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https://en.wikipedia.org/wiki/RANBP1 | Ran-specific binding protein 1 is an enzyme that in humans is encoded by the RANBP1 gene.
Ran/TC4-binding protein, RanBP1, interacts specifically with GTP-charged RAN. RANBP1 encodes a 23-kD protein that binds to RAN complexed with GTP but not GDP. RANBP1 does not activate GTPase activity of RAN but does markedly increase GTP hydrolysis by the RanGTPase-activating protein (RANGAP1). The RANBP1 cDNA encodes a 201-amino acid protein that is 92% similar to its mouse homolog. In both mammalian cells and in yeast, RANBP1 acts as a negative regulator of RCC1 by inhibiting RCC1-stimulated guanine nucleotide release from RAN.
Interactions
RANBP1 has been shown to interact with XPO1, KPNB1 and Ran.
References
Further reading |
https://en.wikipedia.org/wiki/RGS7 | Regulator of G-protein signaling 7 is a protein that in humans is encoded by the RGS7 gene.
RGS7 is highly enriched in the brain where it acts as a universal inhibitor of Gi/o-coupled GPCR. RGS7 is a GTPase-activating protein (GAP). It accelerates the GTP hydrolysis on G proteins determining their fast inactivation and acting as intracellular antagonists of GPCR signaling.
Interactions
RGS7 has been shown to interact with:
GNB5,
GPR158,
GPR179,
PKD1, and
SNAPAP.
References
Further reading |
https://en.wikipedia.org/wiki/RNH1 | Ribonuclease inhibitor is an enzyme that in humans is encoded by the RNH1 gene.
References
Further reading |
https://en.wikipedia.org/wiki/60S%20ribosomal%20protein%20L29 | 60S ribosomal protein L29 is a protein that in humans is encoded by the RPL29 gene.
Function
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 60S subunit. The protein belongs to the L29E family of ribosomal proteins. The protein is also a peripheral membrane protein expressed on the cell surface that directly binds heparin. Although this gene was previously reported to map to 3q29-qter, it is believed that it is located at 3p21.3-p21.2. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome.
Interactions
RPL29 has been shown to interact with BLMH.
References
Further reading
External links
Ribosomal proteins |
https://en.wikipedia.org/wiki/SEMG2 | Semenogelin-2 is a protein that in humans is encoded by the SEMG2 gene.
The secreted protein encoded by this gene is involved in the formation of a gel matrix that encases ejaculated spermatozoa. Proteolysis by the prostate-specific antigen (PSA) breaks down the gel matrix and allows the spermatozoa to move more freely. The encoded protein is found in lesser abundance than a similar semenogelin protein. The genes encoding these two semenogelin proteins are found in a cluster on chromosome 20.
See also
Semenogelin
References
Further reading |
https://en.wikipedia.org/wiki/SFRP2 | Secreted frizzled-related protein 2 is a protein that in humans is encoded by the SFRP2 gene.
This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. Methylation of this gene is a potential marker for the presence of colorectal cancer.
New cardiomyocytes can be regenerated in the mouse heart via Sfrp2 and this may lead to treatment of heart injury .
Cancer
SFRP2 gene has been detected progressively overexpressed in Human papillomavirus-positive neoplastic keratinocytes derived from uterine cervical preneoplastic lesions at different levels of malignancy. For this reason, this gene is likely to be associated with tumorigenesis and may be a potential prognostic marker for uterine cervical preneoplastic lesions progression.
References
Further reading |
https://en.wikipedia.org/wiki/SFRS4 | Splicing factor, arginine/serine-rich 4 is a protein that in humans is encoded by the SFRS4 gene.
Interactions
SFRS4 has been shown to interact with Pinin.
References
Further reading |
https://en.wikipedia.org/wiki/SGCG | Gamma-sarcoglycan is a protein that in humans is encoded by the SGCG gene. The α to δ-sarcoglycans are expressed predominantly (β) or exclusively (α, γ and δ) in striated muscle. A mutation in any of the sarcoglycan genes may lead to a secondary deficiency of the other sarcoglycan proteins, presumably due to destabilisation of the sarcoglycan complex. The disease-causing mutations in the α to δ genes cause disruptions within the dystrophin-associated protein (DAP) complex in the muscle cell membrane. The transmembrane components of the DAP complex link the cytoskeleton to the extracellular matrix in adult muscle fibres, and are essential for the preservation of the integrity of the muscle cell membrane.
Function
Gamma-sarcoglycan is one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin, probably to provide a link between the membrane associated cytoskeleton and the extracellular matrix. Defects in the protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C).
Structure
Gene
Human SGCG gene maps to chromosome 13 at q12, spans over 100 kb of DNA and includes 8 exons.
Protein
Gamma-sarcoglycan is a type II transmembrane protein and consists of 291 amino acids. It has a 35 amino acid intracellular N-terminal region, a 25 amino acid single transmembrane domain, and a 231 amino acid extra-cellular C-terminus.
Clinical significance
Sarcoglycanopathies are autosomal re |
https://en.wikipedia.org/wiki/SH3GL3 | Endophilin-A3 is a protein that in humans is encoded by the SH3GL3 gene.
Interactions
SH3GL3 has been shown to interact with Huntingtin and SH3KBP1.
References
Further reading |
https://en.wikipedia.org/wiki/SLC20A1 | Sodium-dependent phosphate transporter 1 is a protein that in humans is encoded by the SLC20A1 gene.
Retrovirus receptors allow infection of human and murine cells by various retroviruses. The receptors that have been identified at the molecular level include CD4 (MIM 186940) for human immunodeficiency virus, Rec1 for murine ecotropic virus, and GLVR1 for gibbon ape leukemia virus (see MIM 182090). These 3 proteins show no homology to one another at the DNA or protein level. GLVR1 is a sodium-dependent phosphate symporter.[supplied by OMIM]
Research
It was reported that mutations of the gene may cause epispadias or bladder exstrophy.
See also
Solute carrier family
References
Further reading
Solute carrier family |
https://en.wikipedia.org/wiki/SMARCD1 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1 is a protein that in humans is encoded by the SMARCD1 gene.
The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Two transcript variants encoding different isoforms have been found for this gene.
Interactions
SMARCD1 has been shown to interact with Glucocorticoid receptor.
References
Further reading |
https://en.wikipedia.org/wiki/SNTB1 | Beta-1-syntrophin is a protein that in humans is encoded by the SNTB1 gene.
Function
Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally related genes.
Interactions
SNTB1 has been shown to interact with Dystrophin.
References
Further reading |
https://en.wikipedia.org/wiki/SOX3 | Transcription factor SOX-3 is a protein that in humans is encoded by the SOX3 gene. This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic brain development and in determination of cell fate. The encoded protein acts as a transcriptional activator.
Mutations in this gene have been associated with X-linked hypopituitarism (XH) and X-linked mental retardation. Patients with XH are male, have short stature, exhibit a mild form of mental retardation and present pan-hypopituitarism. A duplication of the SOX3 gene has also been discovered to cause XX male sex reversal.
SRY-box transcription factor 3, SOX3, is a transcription factor that is encoded by the SOX3 gene. This gene is responsible for ensuring proper embryonic development and determining the fate of different cells. Regarding its developmental facet, SOX3, alongside other SOX transcription factors, ensures the proper formation of the hypothalamo-pituitary axis. The proper development of the hypothalamo-pituitary axis is necessary as it serves to ensure proper systemic hormonal function. When SOX3 expression is affected, the development of different structures can be affected as well. Specifically, both the hypothalamus and the pituitary gland can suffer in accomplishing proper growth. Due to this, conditions such as hypopituitarism and mental retardation are found in cases with a lack of SOX3. Also, craniofacial abnormalities can be seen as a re |
https://en.wikipedia.org/wiki/SULT1A2 | Sulfotransferase 1A2 is an enzyme that in humans is encoded by the SULT1A2 gene.
Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities.
The gene structure (number and length of exons) is similar among family members. This gene encodes one of two phenol sulfotransferases with thermostable enzyme activity. Two alternatively spliced variants that encode the same protein have been described.
References
Further reading |
https://en.wikipedia.org/wiki/STX5 | Syntaxin-5 is a protein that in humans is encoded by the STX5 gene.
Interactions
STX5 has been shown to interact with:
BET1L,
GOSR1,
GOSR2,
NAPA, and
USO1.
References
Further reading |
https://en.wikipedia.org/wiki/Transgelin | Transgelin is a protein that in humans is encoded by the TAGLN gene.
The protein encoded by this gene is a transformation and shape-change sensitive actin cross-linking/gelling protein found in fibroblasts and smooth muscle. Its expression is down-regulated in many cell lines, and this down-regulation may be an early and sensitive marker for the onset of transformation. A functional role of this protein is unclear. Two transcript variants encoding the same protein have been found for this gene.
References
Further reading |
https://en.wikipedia.org/wiki/TARBP2 | RISC-loading complex subunit TARBP2 is a protein that in humans is encoded by the TARBP2 gene.
Function
HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene binds between the bulge and the loop of the HIV-1 TAR RNA regulatory element and activates HIV-1 gene expression in synergy with the viral Tat protein. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene also has a pseudogene.
Interactions
TARBP2 has been shown to interact with Protein kinase R and RBM14.
References
Further reading |
https://en.wikipedia.org/wiki/ELOA | Elongin A is a protein that in humans is encoded by the ELOA gene.
Elongin A is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis and is capable of forming a stable complex with elongins B and C. The von Hippel–Lindau tumor suppressor protein binds to elongins B and C and thereby inhibits transcription elongation.
References
Further reading |
https://en.wikipedia.org/wiki/TIMP4 | Metalloproteinase inhibitor 4 is an enzyme that in humans is encoded by the TIMP4 gene.
This gene belongs to the tissue inhibitor of metalloproteinases gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. The secreted, netrin domain-containing protein encoded by this gene is involved in regulation of platelet aggregation and recruitment and may play role in hormonal regulation and endometrial tissue remodeling.
Interactions
TIMP4 has been shown to interact with MMP2.
See also
TIMP1, TIMP2, TIMP3
References
Further reading
External links
The MEROPS online database for peptidases and their inhibitors: I35.004 |
https://en.wikipedia.org/wiki/TYRO3 | Tyrosine-protein kinase receptor TYRO3 is an enzyme that in humans is encoded by the TYRO3 gene.
Interactions
TYRO3 has been shown to interact with:
GAS6, and
PIK3R1
References
Further reading |
https://en.wikipedia.org/wiki/Twinkle%20%28protein%29 | Twinkle protein also known as twinkle mtDNA helicase is a mitochondrial protein that in humans is encoded by the TWNK gene (also known as C10orf2 or PEO1) located in the long arm of chromosome 10 (10q24.31).
Twinkle is a mitochondrial protein with structural similarity to the phage T7 primase/helicase (GP4) and other hexameric ring helicases. The twinkle protein colocalizes with mtDNA in mitochondrial nucleoids, and its name derives from the unusual localization pattern reminiscent of twinkling stars. A homolog () is found in Arabidopsis thaliana chloroplast and mitochondria.
Discovery
In 2001, a team was able to identify the C10orf2 gene and named it twinkle due to its localization pattern that resembles twinkling stars. The presumed main function of twinkle is important for the lifetime regulation of the human mtDNA. The gene is expressed at high levels in skeletal muscles. The gene encodes for a protein that has a full-length of 684 units of amino acids. The twinkle protein consists of 3 functional domains: a 5-primase domain, a linker region, and a helicase region. The linker and helicase regions are involved in most of the pathogenic mutations.
Function
The TWNK gene makes two proteins, Twinkle and Twinky. The proteins Twinkle and Twinky are both found in the mitochondria. Each mitochondrion contains a small amount of DNA which is known as mitochondrial DNA (mtDNA). The Twinkle protein is involved in the production of mtDNA by functioning as an adenine nucleotide d |
https://en.wikipedia.org/wiki/DAZ2 | Deleted in azoospermia protein 2 is a protein that in humans is encoded by the DAZ2 gene.
This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains one copy of the 10.8 kb repeat. Alternative splicing results in multiple transcript variants encoding different isoforms.
References
Further reading |
https://en.wikipedia.org/wiki/XPO5 | Exportin-5 (XPO5) is a protein that, in humans, is encoded by the XPO5 gene. In eukaryotic cells, the primary purpose of XPO5 is to export pre-microRNA (also known as pre-miRNA) out of the nucleus and into the cytoplasm, for further processing by the Dicer enzyme. Once in the cytoplasm, the microRNA (also known as miRNA) can act as a gene silencer by regulating translation of mRNA. Although XPO5 is primarily involved in the transport of pre-miRNA, it has also been reported to transport tRNA.
Much research on XPO5 is ongoing. miRNA is a prominent research topic due to its potential use as a therapeutic, with several miRNA-based drugs already in use.
Mechanism
Binding to pre-miRNA
After RanGTP binds to XPO5, the XPO5-RanGTP complex forms a U-like structure to hold the pre-miRNA. The XPO5-RanGTP complex recognizes pre-miRNA by its two-nucleotide 3’ overhang—a sequence consisting of two bases at the 3’ end of the pre-miRNA that are not paired with other bases. This motif is unique to pre-miRNA, and by recognizing it XPO5 ensures specificity for transporting only pre-miRNA. On its own, pre-miRNA is in a “closed” conformation, with the 3’ overhang flipped up toward the RNA minor groove. However, upon binding to XPO5, the 3’ overhang is flipped downwards away from the rest of the pre-miRNA molecule into an “open” conformation. This helps the backbone phosphates of these two nucleotides form hydrogen bonds with many XPO5 residues, allowing XPO5 to recognize the RNA as pre-miRNA. |
https://en.wikipedia.org/wiki/Carbonic%20anhydrase%20VI | Carbonic anhydrase 6 is an enzyme that in humans is encoded by the CA6 gene. It is also called 'gustin' because of its presence in saliva, and lower-than-normal levels of salivary zinc in individuals with hypogeusia.
Function
The protein encoded by this gene is one of several isozymes of carbonic anhydrase. This protein is abundantly found in salivary glands and saliva and protein may play a role in the reversible hydratation of carbon dioxide, though its function in saliva is unknown.
It has been suggested that CA VI participates in the maintenance of appropriate pH homeostasis on tooth surfaces as well as in the mucosa of the gastrointestinal canal.
References
Further reading |
https://en.wikipedia.org/wiki/Capping%20protein%20%28actin%20filament%29%20muscle%20Z-line%2C%20alpha%201 | F-actin-capping protein subunit alpha-1 is a protein that in humans is encoded by the CAPZA1 gene.
CAPZA1 is a member of the F-actin capping protein alpha subunit family. This gene encodes the alpha subunit of the barbed-end actin binding protein.
Function
The protein regulates growth of the actin filament by capping the barbed end (plus-end) of growing actin filaments, preventing any further assembly from occurring. This protein can be bound to the lipid PIP2 preventing it from binding to actin filaments.
References
Further reading |
https://en.wikipedia.org/wiki/UBE2D3 | Ubiquitin-conjugating enzyme E2 D3 is a protein that in humans is encoded by the UBE2D3 gene.
Function
The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme functions in the ubiquitination of the tumor-suppressor protein p53, which is induced by an E3 ubiquitin-protein ligase. Multiple spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been determined.
Interactions
UBE2D3 has been shown to interact with NEDD4.
References
Further reading |
https://en.wikipedia.org/wiki/Collagen%2C%20type%20XIV%2C%20alpha%201 | Collagen alpha-1(XIV) chain is a protein that in humans is encoded by the COL14A1 gene.
It likely plays a role in collagen binding and cell-cell adhesion.
References
Further reading
Collagens |
https://en.wikipedia.org/wiki/ST7 | Suppressor of tumorigenicity protein 7 is a protein that in humans is encoded by the ST7 gene. ST7 orthologs have been identified in all mammals for which complete genome data are available.
Function
The gene for this product maps to a region on human chromosome 7 identified as an autism-susceptibility locus. Mutation screening of the entire coding region in autistic individuals failed to identify phenotype-specific variants, suggesting that coding mutations for this gene are unlikely to be involved in the etiology of autism. The function of this gene product has not been determined. Transcript variants encoding different isoforms of this protein have been described.
Interactions
ST7 has been shown to interact with ITGB1BP3 and GNB2L1.
References
Further reading |
https://en.wikipedia.org/wiki/PTP4A2 | Protein tyrosine phosphatase type IVA 2 is an enzyme that in humans is encoded by the PTP4A2 gene.
The protein encoded by this gene belongs to a small class of the protein tyrosine phosphatase (PTP) family. PTPs are cell signaling molecules that play regulatory roles in a variety of cellular processes. PTPs in this class contain a protein tyrosine phosphatase catalytic domain and a characteristic C-terminal prenylation motif.
This PTP has been shown to primarily associate with plasmic and endosomal membrane through its C-terminal prenylation. This PTP was found to interact with the beta-subunit of Rab geranylgeranyltransferase II (beta GGT II), and thus may function as a regulator of GGT II activity.
Overexpression of this gene in mammalian cells conferred a transformed phenotype, which suggested its role in tumorigenesis. Alternatively spliced transcript variants that encode two distinct isoforms have been described.
References
Further reading |
https://en.wikipedia.org/wiki/AKAP1 | A kinase anchor protein 1, mitochondrial is an enzyme that in humans is encoded by the AKAP1 gene.
Function
The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins that have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to type I and type II regulatory subunits of PKA and anchors them to the mitochondrion. This protein is speculated to be involved in the cAMP-dependent signal transduction pathway and in directing RNA to a specific cellular compartment.
Interactions
AKAP1 has been shown to interact with:
C3orf15,
MYCBP,
PRKAR1A,
PRKAR1B, and
PRKAR2A.
References
External links
Further reading
A-kinase-anchoring proteins |
https://en.wikipedia.org/wiki/DGKZ | Diacylglycerol kinase zeta is an enzyme that in humans is encoded by the DGKZ gene.
The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It may attenuate protein kinase C activity by regulating diacylglycerol levels in intracellular signaling cascade and signal transduction. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified.
Interactions
DGKZ has been shown to interact with P110α.
References
Further reading |
https://en.wikipedia.org/wiki/EIF4G3 | Eukaryotic translation initiation factor 4 gamma 3 is a protein that in humans is encoded by the EIF4G3 gene. The gene encodes a protein that functions in translation by aiding the assembly of the ribosome onto the messenger RNA template. Confusingly, this protein is usually referred to as eIF4GII, as although EIF4G3 is the third gene that is similar to eukaryotic translation initiation factor 4 gamma, the second isoform EIF4G2 is not an active translation initiation factor.
Interactions
EIF4G3 has been shown to interact with PABPC1.
References
Further reading |
https://en.wikipedia.org/wiki/CDC16 | Cell division cycle protein 16 homolog is a protein that in humans is encoded by the CDC16 gene.
Function
This gene encodes a component protein of the APC complex, which is composed of eight proteins and functions as a protein ubiquitin ligase. The APC complex is a cyclin degradation system that governs exit from mitosis. Each component protein of the APC complex is highly conserved among eukaryotic organisms. This protein and two other APC complex proteins, CDC23 and CDC27, contain a tetratricopeptide repeat (TPR), a protein domain that may be involved in protein-protein interaction. Multiple alternatively spliced variants, encoding the same protein, have been identified.
Interactions
CDC16 has been shown to interact with CDC27 and CDC20.
References
External links
Further reading |
https://en.wikipedia.org/wiki/MAGI1 | Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 is an enzyme that in humans is encoded by the MAGI1 gene.
Function
The protein encoded by this gene is a member of the membrane-associated guanylate kinase homologue (MAGUK) family. MAGUK proteins participate in the assembly of multiprotein complexes on the inner surface of the plasma membrane at regions of cell–cell contact. The product of this gene may play a role as scaffolding protein at cell–cell junctions. Alternatively spliced transcript variants encoding different isoforms have been identified.
Interactions
MAGI1 has been shown to interact with:
ACCN3,
ATN1,
Actinin alpha 4,
Beta-catenin,
Brain-specific angiogenesis inhibitor 1,
Calcium-activated potassium channel subunit alpha-1,
FCHSD2,
LRP2, and
SYNPO.
References
Further reading |
https://en.wikipedia.org/wiki/COPB2 | Coatomer subunit beta is a protein that is encoded by the COPB2 gene in humans.
Function
The Golgi coatomer complex (see MIM 601924) constitutes the coat of nonclathrin-coated vesicles and is essential for Golgi budding and vesicular trafficking. It consists of 7 protein subunits, including COPB2.[supplied by OMIM]
Interactions
COPB2 has been shown to interact with:
COPB1,
PRKCE, and
RGS4.
References
External links
Further reading |
https://en.wikipedia.org/wiki/NCR1 | Natural cytotoxicity triggering receptor 1 is a protein that in humans is encoded by the NCR1 gene. NCR1 has also been designated as CD335 (cluster of differentiation, NKP46, NKp46, NK-p46, and LY94.
References
Further reading
External links
Clusters of differentiation
Human proteins |
https://en.wikipedia.org/wiki/MAP4K4 | Mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4) – also known as hepatocyte progenitor kinase-like/germinal center kinase-like kinase (HGK) and Nck-interacting kinase (NIK) – is an enzyme, specifically a serine/threonine (S/T) kinase encoded by the MAP4K4 gene in humans.
MAP4K4 is involved in a wide array of physiological processes including cell migration, proliferation and adhesion; its activity has been implicated in systemic inflammation, metabolic disorders, cardiovascular disease and cancer.
While MAP4K4 has been found to be upregulated in a wide array of cancers, there is currently limited information regarding its specific involvement. However, there is increasing evidence that suggests MAP4K4 has an important role in the development and progression of cancer, and may serve as a novel target for cancer therapeutics.
Discovery and classification
MAP4K4 is categorized under the mammalian sterile 20 protein (Ste20p) kinase family due to its shared homology with the Ste20p kinase found in budding yeast and is a member of the GCK-IV subfamily. Mammalian MAP4K4 was initially identified in mice as a kinase activator for a protein called Nck followed shortly by identification and cloning of the human orthologue encoded by the MAP4K4 gene.
Structure and expression
In humans, MAP4K4 is encoded by the MAP4K4 gene located on chromosome 2, position q11.2 and consists of 33 exons responsible for its synthesis. It contains approximately 1200 amino acids, has a |
https://en.wikipedia.org/wiki/VPS4B | Vacuolar protein sorting-associated protein 4B is a protein that in humans is encoded by the VPS4B gene.
The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein.
In humans, two paralogs of the yeast protein have been identified. They share a high degree of amino acid sequence similarity with each other and also with yeast Vps4 and mouse proteins. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 18; the gene for the other (VPS4A) resides on chromosome 16.
References
Further reading |
https://en.wikipedia.org/wiki/TRAF4 | TNF receptor-associated factor 4 (TRAF4) also known as RING finger protein 83 (RNF83) is a protein that in humans is encoded by the TRAF4 gene.
TRAF4 is a member of the TNF receptor associated factor (TRAF) family, a family of scaffold proteins. TRAF proteins connect IL-1R/Toll and TNF receptors with signaling factors that lead to the activation of NF-κB and mitogen-activated protein kinases. However, TRAF4 is not known to interact with TNF receptors and its cellular functions are not well understood.
Protein interactions
TRAF4 has been shown to interact with neurotrophin receptor, p75 (NTR/NTSR1), and negatively regulate NTR induced cell death and NF-kappa B activation. This protein has been found to bind to p47phox, a cytosolic regulatory factor included in a multi-protein complex known as NAD(P)H oxidase. This protein thus, is thought to be involved in the oxidative activation of MAPK8/JNK. Alternatively spliced transcript variants have been observed but the full-length nature of only one has been determined.
A recent report indicates that TRAF4 binds to NOD-Like Receptors NOD1 and NOD2, and specifically inhibits activation of NF-κB by the activated NOD2-RIP2 complex
References
Further reading |
https://en.wikipedia.org/wiki/HERPUD1 | Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein is a protein that in humans is encoded by the HERPUD1 gene.
The accumulation of unfolded proteins in the endoplasmic reticulum (ER) triggers the ER stress response. This response includes the inhibition of translation to prevent further accumulation of unfolded proteins, the increased expression of proteins involved in polypeptide folding, known as the unfolded protein response (UPR), and the destruction of misfolded proteins by the ER-associated protein degradation (ERAD) system. This gene may play a role in both UPR and ERAD. Its expression is induced by UPR and it has an ER stress response element in its promoter region while the encoded protein has an N-terminal ubiquitin-like domain which may interact with the ERAD system. This protein has been shown to interact with presenilin proteins and to increase the level of amyloid-beta protein following its overexpression. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms. The full-length nature of all transcript variants has not been determined.
Interactions
HERPUD1 has been shown to interact with UBQLN1 and UBQLN2.
References
Further reading |
https://en.wikipedia.org/wiki/SAE1 | SUMO-activating enzyme subunit 1 is a protein that in humans is encoded by the SAE1 gene.
Interactions
SAE1 has been shown to interact with SAE2, the protein product of the gene UBA2.
References
Further reading
External links |
https://en.wikipedia.org/wiki/SF3B4 | Splicing factor 3B subunit 4 is a protein that in humans is encoded by the SF3B4 gene.
Function
This gene encodes one of four subunits of the splicing factor 3B. The protein encoded by this gene cross-links to a region in the pre-mRNA immediately upstream of the branchpoint sequence in pre-mRNA in the prespliceosomal complex A. It also may be involved in the assembly of the B, C and E spliceosomal complexes. In addition to RNA-binding activity, this protein interacts directly and highly specifically with subunit 2 of the splicing factor 3B. This protein contains two N-terminal RNA-recognition motifs (RRMs), consistent with the observation that it binds directly to pre-mRNA.
Disease associations
In 2012, Canadian researchers belonging to the FORGE (Finding of Rare disease GEnes) consortium identified new dominant mutations in SF3B4 as the cause of Nager syndrome, a rare type of mandibulofacial dysostosis with associated limb malformations.
Interactions
SF3B4 has been shown to interact with CDC5L, BMPR1A and SF3B2.
References
Further reading
External links |
https://en.wikipedia.org/wiki/MCRS1 | Microspherule protein 1 is a protein that in humans is encoded by the MCRS1 gene.
Interactions
MCRS1 has been shown to interact with PHC2, Death associated protein 6, NOL1, PINX1 and Telomerase reverse transcriptase.
References
Further reading |
https://en.wikipedia.org/wiki/MYBBP1A | Myb-binding protein 1A is a protein that in humans is encoded by the MYBBP1A gene.
References
Further reading |
https://en.wikipedia.org/wiki/MAP3K2 | Mitogen-Activated Protein Kinase Kinase Kinase 2 also known as MEKK2 (MEK/ERK Kinase 2) is an enzyme that in humans is encoded by the MAP3K2 gene.
Function
The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase preferentially activates other kinases involved in the MAP kinase signaling pathway. This kinase has been shown to directly phosphorylate and activate IkappaB kinases, and thus plays a role in NF-kappa B signaling pathway. This kinase has also been found to bind and activate protein kinase C-related kinase 2, which suggests its involvement in a regulated signaling process.
Activation
MEKK2 is activated through homodimerization and subsequent trans-autophosphorylation at MEKK2-S519.
MEKK2 is regulated by 14-3-3 proteins which bind to MEKK2-phosphoT283.
MEKK2 is regulated by SMYD3 which binds and methylates MEKK2-K260.
Interactions
MAP3K2 has been shown to interact with:
MAPK8,
MAP2K4,
MAP2K5,
MAP2K7,
14-3-3 protein,
SMYD3,
SH2D2A, and
XIAP
References
Further reading
EC 2.7.11 |
https://en.wikipedia.org/wiki/CEP290 | Centrosomal protein of 290 kDa is a protein that in humans is encoded by the CEP290 gene. CEP290 is located on the Q arm of chromosome 12.
Function
The gene CEP290 is a centrosomal protein that plays an important role in centrosome and cilia development. This gene is vital in the formation of the primary cilium, a small antenna-like projections of the cell membrane that plays an important role in the photoreceptors at the back of the retina (which detect light and color) and in the kidney, brain, and many other organs of the body. Knocking down levels of the CEP290 gene transcript resulted in dramatic suppression of ciliogenesis in retinal pigment epithelial cells in culture, proving just how important CEP290 is to cilia formation.
On a molecular level, CEP290 has been shown to play a critical regulatory and structural role in primary cilium formation. Recent studies have implicated CEP290 as a microtubule and membrane binding protein that might serve as a structural link between the microtubule core of the cilium and the overlying ciliary membrane. Disruption of CEP290's microtubule binding domain in the rd16 mouse model of CEP290 disease has been shown to result in rapid and dramatic retinal degeneration, demonstrating the importance of CEP290 microtubule binding in disease. The role of CEP290 in promoting ciliogenesis is inhibited both by auto-regulatory domains found at either end of the CEP290 protein and through CEP290's interaction with the inhibitory protein CP |
https://en.wikipedia.org/wiki/PARP4 | Poly [ADP-ribose] polymerase 4 is an enzyme that in humans is encoded by the PARP4 gene.
This gene encodes poly(ADP-ribosyl)transferase-like 1 protein, which is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. Since this protein is not capable of binding DNA directly, its transferase activity may be activated by other factors such as protein-protein interaction mediated by the extensive carboxyl terminus.
Interactions
PARP4 has been shown to interact with Major vault protein.
References
Further reading |
https://en.wikipedia.org/wiki/CLK2 | Dual specificity protein kinase CLK2 is an enzyme that in humans is encoded by the CLK2 gene.
Function
This gene encodes a member of the CLK family of dual specificity protein kinases. CLK family members have shown to interact with, and phosphorylate, serine/arginine-rich (SR) proteins of the spliceosomal complex, which is a part of the regulatory mechanism that enables the SR proteins to control RNA splicing. This protein kinase is involved in the regulation of several cellular processes and may serve as a link between cell cycle progression, apoptosis, and telomere length regulation.
References
External links
Further reading |
https://en.wikipedia.org/wiki/Collagen%2C%20type%20IX%2C%20alpha%202 | Collagen alpha-2(IX) chain is a protein that in humans is encoded by the COL9A2 gene.
This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia.
References
External links
GeneReviews/NCBI/NIH/UW entry on Multiple Epiphyseal Dysplasia, Dominant
Further reading
Collagens |
https://en.wikipedia.org/wiki/CRHBP | Corticotropin-releasing factor-binding protein is a protein that in humans is encoded by the CRHBP gene. It belongs to corticotropin-releasing hormone binding protein family.
Corticotropin-releasing hormone is a potent stimulator of synthesis and secretion of preopiomelanocortin-derived peptides. Although CRH concentrations in the human peripheral circulation are normally low, they increase throughout pregnancy and fall rapidly after parturition. Maternal plasma CRH probably originates from the placenta. Human plasma contains a CRH-binding protein which inactivates CRH and which may prevent inappropriate pituitary-adrenal stimulation in pregnancy.
References
External links
Further reading |
https://en.wikipedia.org/wiki/CSN2 | Beta-casein is a protein that in humans is encoded by the CSN2 gene. It is in the class of phosphoproteins and generally occurs in mammalian milk.
References
External links
Further reading |
https://en.wikipedia.org/wiki/CST1 | Cystatin-SN is a protein that in humans is encoded by the CST1 gene.
The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a cysteine proteinase inhibitor found in saliva, tears, urine, and seminal fluid.
References
External links
The MEROPS online database for peptidases and their inhibitors: I25.010
Further reading |
https://en.wikipedia.org/wiki/CYP4A11 | Cytochrome P450 4A11 is a protein that in humans is codified by the CYP4A11 gene.
Function
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates medium-chain fatty acids such as laurate and myristate.
CYP4A11 is highly expressed in the liver and kidney.
CYP4A11 along with CYP4A22, CYP4F2, and CYP4F3 metabolize arachidonic acid to 20-Hydroxyeicosatetraenoic acid (20-HETE) by an Omega oxidation reaction with the predominant 20-HETE-synthesizing enzymes in humans being CYP4F2 followed by CYP4A11; 20-HETE regulates blood flow, vascularization, blood pressure, and kidney tubule absorption of ions in rodents and possibly humans.
Gene polymorphism variants of CYP4A11 are associated with the development of hypertension and cerebral infarction (i.e. ischemic stroke) in humans (see 20-Hydroxyeicosatetraenoic acid). In its capacity to form hydroxyl fatty acid, CYP4A11 is classified as a CYP monooxygease. Sesamin, the major lignan found in sesame, inhibits CYP4A11, which leads to decrease of plasma and urinary levels of 20-HETE. A study have found that sesamin inhibits human renal and liver microsome 20-HETE synthesis.
CYP4A11 also has epoxygenase activity in that it metabolizes docosahexaenoic acid to epoxydocosapentaenoic acid |
https://en.wikipedia.org/wiki/CYP26A1 | Cytochrome P450 26A1 is a protein that in humans is encoded by the CYP26A1 gene.
Function
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein acts on retinoids, including all-trans-retinoic acid (RA), with both 4-hydroxylation and 18-hydroxylation activities. This enzyme regulates the cellular level of retinoic acid which is involved in regulation of gene expression in both embryonic and adult tissues. Two alternatively spliced transcript variants of this gene, which encode the distinct isoforms, have been reported.
CYP26A1 is over-expressed in colorectal cancer cells compared to normal colonic epithelium but is of no independent prognostic value in patients with colorectal cancer.
References
External links
Further reading |
https://en.wikipedia.org/wiki/DACH1 | Dachshund homolog 1, also known as DACH1, is a protein which in humans is encoded by the DACH1 gene. DACH1 has been shown to interact with Ubc9, Smad4, and NCoR.
Structure
Gene structure . This protein coding gene has 760 amino acid protein, and an observed molecular weight of 52 kDa. Dachshund Family transcription factor 1 is encoded by DACH gene, who spans 400kDa and is encoded by 12 exons. This gene is located, in humans, in chromosome 13 (13q22). It encodes a chromatin-associated protein that associates with other DNA-binding transcription factors to regulate gene expression, mRNA translation, coactivator binding, and cell fate determination during development.
Multiple transcript variants encoding different isoforms have been found for this gene. Four alternatively spliced transcripts encoding different isoforms have been described for this gene.DACH1 mRNA was detected in multiple human tissues, including kidney and heart. Dach1 is located in nuclear and cytoplasmic pools and is considered a cell fate determination factor. Dachshund domain 1 (DD1, also known as Box-N) has a predicted helix–turn–helix family structure. The X-ray crystal structure of the human DACH1 Box-N illustrates that the DACH1 protein contains a domain that is conserved with the pro-oncogenes ski/sno oncogenes, which form an α/β structure similar to that found in the winged helix/forkhead subgroup of DNA binding proteins. This protein is widely expressed including bone marrow, brain, colon, eye, h |
https://en.wikipedia.org/wiki/DHPS | Deoxyhypusine synthase is an enzyme that in humans is encoded by the DHPS gene.
The unusual amino acid hypusine is formed posttranslationally and is only found in a single cellular protein, eukaryotic translation initiation factor 5A (EIF5A, EIF5A2). In the first step of hypusine biosynthesis, deoxyhypusine synthase catalyzes the NAD-dependent transfer of the butylamine moiety of spermidine to the epsilon-amino group of a specific lysine residue of the EIF5A precursor protein to form the intermediate deoxyhypusine residue. This gene consists of nine exons spanning 6.6 kb. Three transcript variants have been isolated. However, only transcript variant 1 encodes an active protein. The shorter variants may act as modulating factors of DHPS activity.
References
Further reading |
https://en.wikipedia.org/wiki/DLX4 | Homeobox protein DLX-4 is a protein that in humans is encoded by the DLX4 gene.
Function
Many vertebrate homeobox-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. Three transcript variants have been described for this gene, however, the full length nature of one variant has not been described. Studies of the two splice variants revealed that one encoded isoform (BP1) functions as a repressor of the beta-globin gene while the other isoform lacks that function.
References
Further reading
External links
Transcription factors |
https://en.wikipedia.org/wiki/EBF1 | Transcription factor COE1 is a protein that in humans is encoded by the EBF1 gene.
EBF1 stands for Early B-Cell Factor 1.
EBF1 controls the expression of key proteins required for B cell differentiation, signal transduction and function. The crucial role of this factor is shown in the regulation of expression of SLAM family co-receptors in B-cells. In addition, EBF1 is also noted for its role in chondrogenic differentiation in limb bud mesenchymal progenitor cells.
Interactions
EBF1 has been shown to interact with ZNF423 and CREB binding protein.
References
Further reading
External links |
https://en.wikipedia.org/wiki/Ephrin%20A2 | Ephrin-A2 is a protein that in humans is encoded by the EFNA2 gene.
This gene encodes a member of the ephrin family. The protein is composed of a signal sequence, a receptor-binding region, a spacer region, and a hydrophobic region. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. Posttranslational modifications determine whether this protein localizes to the nucleus or the cytoplasm.
References
Further reading |
https://en.wikipedia.org/wiki/Ephrin%20A3 | Ephrin A3 is a protein that in humans is encoded by the EFNA3 gene.
This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin.
References
Further reading |
https://en.wikipedia.org/wiki/Ephrin%20B3 | Ephrin-B3 is a protein that in humans is encoded by the EFNB3 gene.
EFNB3, a member of the ephrin gene family, is important in brain development as well as in its maintenance. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases. EPH receptors typically have a single kinase domain and an extracellular region containing a Cysteine-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997) based on their structures and sequence relationships. Ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. Ephrin-B ligands also contain an intracellular tail with highly conserved tyrosine residues and a PDZ-binding motif at the C-terminus. This tail functions as a mechanism for reverse signaling, where signaling occurs into the ligand-containing cell, as opposed to the cell with the receptor. Upon receptor-ligand interaction the tyrosine residues become phosphorylated and there is recruitment of PDZ domain-containing proteins. The Eph family of receptors are similarly divided into two groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands.
EphrinB3 has been implicated in mediating various developmental events, particularly in the nervous system. |
https://en.wikipedia.org/wiki/BRD8 | Bromodomain-containing protein 8 is a protein that in humans is encoded by the BRD8 gene.
The protein encoded by this gene interacts with thyroid hormone receptor in a ligand-dependent manner and enhances thyroid hormone-dependent activation from thyroid response elements. This protein contains a bromodomain and is thought to be a nuclear receptor coactivator. Three alternatively spliced transcript variants that encode distinct isoforms have been identified.
Interactions
BRD8 has been shown to interact with Thyroid hormone receptor beta and Retinoid X receptor alpha.
References
External links
Further reading |
https://en.wikipedia.org/wiki/DBF4 | Protein DBF4 homolog A is a protein that is encoded by the DBF4 gene in humans.
Interactions
DBF4 has been shown to interact with:
Cell division cycle 7-related protein kinase,
MCM3,
MCM7,
ORC2L, and
ORC6L.
References
Further reading
Zinc finger proteins |
https://en.wikipedia.org/wiki/SEC61B | Protein transport protein Sec61 subunit beta is a protein that in humans is encoded by the SEC61B gene.
The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The Sec61 complex forms a transmembrane channel where proteins are translocated across and integrated into the ER membrane. This complex consists of three membrane proteins- alpha, beta, and gamma. This gene encodes the beta-subunit protein. The Sec61 subunits are also observed in the post-ER compartment, suggesting that these proteins can escape the ER and recycle back. There is evidence for multiple polyadenylated sites for this transcript.
References
Further reading |
https://en.wikipedia.org/wiki/IMMT | Mitochondrial inner membrane protein is a protein that in humans is encoded by the IMMT gene.)
IMMT encodes an inner mitochondrial membrane (IMM) protein in the nucleus. It is posttranslational transported to the IMM. Mic60/Mitofilin (encoded by the IMMT gene) is a core subunit of the MICOS-complex, directly located next to cristae junctions (CJ). Human Mic60 exists in two isoforms of different size, anchored to the IMM via its N-terminus, while most of the protein is located to the inner mitochondrial space (IMS).
Function
Mic60 is evolutionary one of the oldest MICOS subunits as homologous were found in anaerobic prokaryotes. It is mainly present in two isoforms (ca. 88 and 90 kDa). In the brain, four isoforms are known, which differ in their isoelectric point due to different post-translational modifications. The amino terminus of Mic60 is anchored in the IM, while most of the protein is extended to the IMS. C-terminal Mic60 has a conserved mitofilin domain which is crucial for building the MICOS-complex. A central coiled-coil domain is required to enable protein-protein interactions.
Interactions
Mic60 indirectly interacts with all known MICOS-complex and SAM complex components. It directly interacts with Mic25, Mic19 and SAM50. Together with Mic25 and Mic19, Mic60 forms the Mic60-Mic19-Mic25 subcomplex. This subcomplex, especially Mic60, is crucial for the physical contact between the IMM and the outer mitochondrial membrane (OMM) via its interaction with SAM50. Mic |
https://en.wikipedia.org/wiki/KIF2C | Kinesin-like protein KIF2C is a protein that in humans is encoded by the KIF2C gene.
The protein encoded by this gene is a member of kinesin-like protein family. Most proteins of this family are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. This protein acts to regulate microtubule dynamics in cells and is important for anaphase chromosome segregation and may be required to coordinate the onset of sister centromere separation.
References
Further reading
External links
Human proteins |
https://en.wikipedia.org/wiki/KIF3A | Kinesin-like protein KIF3A is a protein that in humans is encoded by the KIF3A gene.
Function
KIF3A is one subunit of the heterotrimeric motor protein, kinesin-2, that was initially isolated from sea urchin egg/embryo cytosol using microtubule affinity purification. This motor consists of two kinesin-related subunits (called KIF3A and KIF3B or 3C in vertebrates) and an associated protein (KAP3), and it transports protein complexes, nucleic acids and organelles towards the "plus" ends of microtubule tracks within cells. Work done in a broad range of eukaryotic cells has revealed that heterotrimeric kinesin-2 is the primary motor protein driving the intraflagellar transport of tubulins and other axonemal building blocks from the base of the ciliary/flagellar axoneme to their site of assembly at the distal tips. This process is required for cilium assembly/maintenance and cilium-based signalling which play key roles in various cell and developmental processes. For example, in vertebrate embryos, kinesin-2 function is required for cilia-dependent nodal flow and the development of left-right asymmetry.
Interactions
KIF3A has been shown to interact with MAP3K10.
References
Further reading |
https://en.wikipedia.org/wiki/KAT7%20%28gene%29 | Histone acetyltransferase KAT7 is an enzyme that in humans is encoded by the KAT7 gene. It specifically acetylates H4 histones at the lysine12 residue (H4K12) and is necessary for origin licensing and DNA replication. KAT7 associates with origins of replication during G1 phase of the cell cycle through complexing with CDT1. Geminin is thought to inhibit the acetyltransferase activity of KAT7 when KAT7 and CDT1 are complexed together.
Interactions
KAT7 has been shown to interact with:
AR,
CDT1,
MCM2
ORC1L and
VIM,
References
Further reading |
https://en.wikipedia.org/wiki/TREX2 | Three prime repair exonuclease 2 is an enzyme that in humans is encoded by the TREX2 gene.
This gene encodes a protein with 3' exonuclease activity. Enzymes with this activity are involved in DNA replication, repair, and recombination. Similarity to an E. coli protein suggests that this enzyme may be a subunit of DNA polymerase III, which does not have intrinsic exonuclease activity.
Mutations in this gene may lead to Aicardi-Goutieres syndrome
References
Further reading
External links |
https://en.wikipedia.org/wiki/ANTXR2 | Anthrax toxin receptor 2 (also known as Capillary Morphogenesis Gene 2 or CMG2) is a protein that in humans is encoded by the ANTXR2 gene.
See also
Anthrax toxin
References
External links
Further reading |
https://en.wikipedia.org/wiki/DCP2 | mRNA-decapping enzyme 2 is a protein that in humans is encoded by the DCP2 gene.
DCP2 is a key component of an mRNA-decapping complex required for removal of the 5-prime cap from mRNA prior to its degradation from the 5-prime end (Fenger-Gron et al., 2005).[supplied by OMIM]
Interactions
DCP2 has been shown to interact with DCP1A and UPF1.
References
Further reading
Nudix hydrolases |
https://en.wikipedia.org/wiki/EIF2S3 | Eukaryotic translation initiation factor 2 subunit 3 (eIF2γ) is a protein that in humans is encoded by the EIF2S3 gene.
Function
Eukaryotic translation initiation factor 2 (eIF2) functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA and binding to a 40S ribosomal subunit. eIF2 is composed of three subunits, alpha (α), beta (β), and gamma (γ, this article), with the protein encoded by this gene representing the gamma subunit.
See also
eIF2
References
Further reading |
https://en.wikipedia.org/wiki/EIF4A1 | Eukaryotic initiation factor 4A-I (also known as eIF4A1 or DDX2A) is a 46 kDa cytosolic protein that, in humans, is encoded by the EIF4A1 gene, which is located on chromosome 17. It is the most prevalent member of the eIF4A family of ATP-dependant RNA helicases, and plays a critical role in the initiation of cap-dependent eukaryotic protein translation as a component of the eIF4F translation initiation complex. eIF4A1 unwinds the secondary structure of RNA within the 5'-UTR of mRNA, a critical step necessary for the recruitment of the 43S preinitiation complex, and thus the translation of protein in eukaryotes. It was first characterized in 1982 by Grifo, et al., who purified it from rabbit reticulocyte lysate.
Background
The regulation of the translation of mRNA transcripts into protein is one of the best ways that a cell can alter its response to its environment, as changes to the transcription of genes often takes considerably more time to be enacted. Protein translation can be broken into four phases: activation, initiation, elongation, and termination. Of these steps, initiation is the one for which cells have the most control. It is the rate limiting step of protein synthesis, controlled by a myriad of proteins known as the eukaryotic initiation factors, or eIFs. Relative abundance of these factors or their relative individual activities afford eukaryotic cells broad control over the rate of initiation and thus protein synthesis. eIFs are regulated under well known i |
https://en.wikipedia.org/wiki/EIF4B | Eukaryotic translation initiation factor 4B is a protein that in humans is encoded by the EIF4B gene.
Interactions
eIF4B has been shown to interact with and stimulate the activity of eIF4A and bind to the eIF3 complex through the eIF3A subunit. This interaction results in the recruitment of the eukaryotic small ribosomal subunit (40S) to the mRNA which will in turn set the stage for the later steps leading to elongation.
See also
Eukaryotic translation
eIF4F
References
Further reading |
https://en.wikipedia.org/wiki/EPH%20receptor%20A1 | EPH receptor A1 (ephrin type-A receptor 1) is a protein that in humans is encoded by the EPHA1 gene.
This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene is expressed in some human cancer cell lines and has been implicated in carcinogenesis.
References
Further reading
Tyrosine kinase receptors |
https://en.wikipedia.org/wiki/EPHB3 | Ephrin type-B receptor 3 is a protein that in humans is encoded by the EPHB3 gene.
Function
Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members.
Interactions
EPHB3 has been shown to interact with MLLT4 and RAS p21 protein activator 1.
References
Further reading
External links
Tyrosine kinase receptors |
https://en.wikipedia.org/wiki/STX2 | Syntaxin-2, also known as epimorphin, is a protein that in humans is encoded by the STX2 gene.
The product of this gene belongs to the syntaxin/epimorphin family of proteins. The syntaxins are a large protein family implicated in the targeting and fusion of intracellular transport vesicles. The product of this gene regulates epithelial-mesenchymal interactions and epithelial cell morphogenesis and activation. Alternatively spliced transcript variants encoding different isoforms have been identified. When the N terminus is on the cytosolic face it acts as a t-SNARE involved in intracellular vesicle docking and is called Syntaxin-2. When flipped inside out, i.e. N terminus hangs out on the extracellular surface (by some nonclassical secretion pathway) it acts as a versatile morphogen and is called epimorphin. This membrane protein enjoys the double choice of another form of topological alternatives of being targeted to either apical or basolateral surface of an epithelial cell in a regulated way depending on various contexts. When expressed by mesenchymal cells it can instruct epithelial morphogenesis at epithelial mesenchymal interfaces.
Interactions
STX2 has been shown to interact with SNAP-25, SNAP23, STXBP1 and Syntaxin binding protein 3.
References
Further reading |
https://en.wikipedia.org/wiki/FANCE | Fanconi anemia, complementation group E protein is a protein that in humans is encoded by the FANCE gene. The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, and FANCL. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA cross-linking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation groufcrp E.
A nuclear complex containing FANCE protein (as well as FANCC, FANCF and FANCG) is essential for the activation of the FANCD2 protein to the mono-ubiquitinated isoform. In normal, non-mutant cells, FANCD2 is mono-ubiquinated in response to DNA damage. FANCE together with FANCC acts as the substrate adapter for this reaction Activated FANCD2 protein co-localizes with BRCA1 (breast cancer susceptibility protein) at ionizing radiation-induced foci and in synaptonemal complexes of meiotic chromosomes. Activated FANCD2 protein may function prior to the initiation of meiotic recombination, perhaps to prepare chromosomes for synapses, or to regulate subsequent recombination events.
Gene Expression
FANCE is stated to have been expressed in 151 organs with the highest level in female gonads.
C |
https://en.wikipedia.org/wiki/FCN2 | Ficolin-2, which was initially identified as L-ficolin, is a protein that in humans is encoded by the FCN2 gene.
The product of this gene belongs to the ficolin family of proteins. This family is characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. This gene is predominantly expressed in the liver, and has been shown to have carbohydrate binding and opsonic activities. Alternatively spliced transcript variants encoding different isoforms have been identified.
References
Further reading
Ficolins |
https://en.wikipedia.org/wiki/FLOT2 | Flotillin-2 is a protein that in humans is encoded by the FLOT2 gene.
Flotillin 2 (flot-2) is a highly conserved protein isolated from caveolae/lipid raft domains that tether growth factor receptors linked to signal transduction pathways. Flot-2 binds to PAR-1, a known upstream mediator of major signal transduction pathways implicated in cell growth and metastasis, and may influence tumour progression.
Caveolae are small domains on the inner cell membrane involved in vesicular trafficking and signal transduction. This gene encodes a caveolae-associated, integral membrane protein, which is thought to function in neuronal signaling.
References
Further reading |
https://en.wikipedia.org/wiki/FUT1 | Galactoside 2-alpha-L-fucosyltransferase 1 is an enzyme that in humans is encoded by the FUT1 gene.
The enzyme is involved in the synthesis of the H antigen.
References
Further reading |
https://en.wikipedia.org/wiki/GABRR1 | Gamma-aminobutyric acid receptor subunit rho-1 is a protein that in humans is encoded by the GABRR1 gene.
GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. GABRR1 is a member of the rho subunit family.
See also
GABAA-ρ receptor
References
Further reading
External links
Ion channels |
https://en.wikipedia.org/wiki/AAK1 | Adaptor-associated protein kinase 1 also known as AP2-associated protein kinase 1 is an enzyme that in humans is encoded by the AAK1 gene and is involved in clathrin mediated endocytosis. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.
Function
Adaptor-related protein complex 2 (AP-2 complexes) functions during receptor-mediated endocytosis to trigger clathrin assembly, interact with membrane-bound receptors, and recruit endocytic accessory factors. This gene encodes a member of the SNF1 subfamily of Ser/Thr protein kinases. The protein interacts with and phosphorylates a subunit of the AP-2 complex, which promotes binding of AP-2 to sorting signals found in membrane-bound receptors and subsequent receptor endocytosis. Its kinase activity is stimulated by clathrin.
References
Further reading
External links |
https://en.wikipedia.org/wiki/RIMS1 | Regulating synaptic membrane exocytosis protein 1 is a protein that in humans is encoded by the RIMS1 gene.
Function
RAB3A (MIM 179490), a member of the Ras superfamily of genes, is a synaptic vesicle protein that regulates synaptic vesicle exocytosis. MUNC13 (UNC13; MIM 605836) and its isoforms are required for priming synaptic vesicles for exocytosis. The RIM family of active zone proteins likely function as protein scaffolds that help regulate vesicle exocytosis during short-term plasticity.[supplied by OMIM]
Clinical significance
Mutations of the gene cause cone-rod dystrophy 7.
Interactions
RIMS1 has been shown to interact with:
ERC2,
RAB3A,
UNC13A,
UNC13B, and
YWHAH.
References
Further reading |
https://en.wikipedia.org/wiki/SMG1 | Serine/threonine-protein kinase SMG1 is an enzyme that in humans is encoded by the SMG1 gene. SMG1 belongs to the phosphatidylinositol 3-kinase-related kinase protein family.
Function
This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylating the regulator of nonsense transcripts 1 protein. Alternative spliced transcript variants have been described, but their full-length natures have not been determined.
Interactions
SMG1 (gene) has been shown to interact with PRKCI and UPF1.
References
Further reading
EC 2.7.11
Genes on human chromosome 16 |
https://en.wikipedia.org/wiki/SIN3B | Paired amphipathic helix protein Sin3b is a protein that in humans is encoded by the SIN3B gene.
Interactions
SIN3B has been shown to interact with HDAC1, Zinc finger and BTB domain-containing protein 16, SUDS3 and IKZF1.
See also
Transcription coregulator
References
Further reading
External links
Gene expression
Transcription coregulators |
https://en.wikipedia.org/wiki/SF3B3 | Splicing factor 3B subunit 3 is a protein that in humans is encoded by the SF3B3 gene.
This gene encodes subunit 3 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 3 has also been identified as a component of the STAGA (SPT3-TAF(II)31-GCN5L acetylase) transcription coactivator-HAT (histone acetyltransferase) complex, and the TFTC (TATA-binding-protein-free TAF(II)-containing complex). These complexes may function in chromatin modification, transcription, splicing, and DNA repair.
Interactions
SF3B3 has been shown to interact with SF3B1, Transcription initiation protein SPT3 homolog and TAF9.
References
Further reading |
https://en.wikipedia.org/wiki/PES1 | Pescadillo homolog is a protein that in humans is encoded by the PES1 gene.
This gene encodes a protein that is abnormally elevated in malignant tumors of astrocytic origin. It is a strongly conserved gene containing a BRCT domain that is essential for the activity of this gene product. The gene plays a crucial role in cell proliferation and may be necessary for oncogenic transformation and tumor progression.
References
Further reading |
https://en.wikipedia.org/wiki/SRRM2 | Serine/arginine repetitive matrix protein 2 is a protein that in humans is encoded by the SRRM2 gene.
Interactions
SRRM2 has been shown to interact with Pinin.
References
Further reading |
https://en.wikipedia.org/wiki/HSPBP1 | Hsp70-binding protein 1 is a protein that in humans is encoded by the HSPBP1 gene.
Interactions
HSPBP1 has been shown to interact with HSPA8 and HSPA4.
References
Further reading
Armadillo-repeat-containing proteins |
https://en.wikipedia.org/wiki/PRPF6 | Pre-mRNA-processing factor 6 is a protein that in humans is encoded by the PRPF6 gene.
The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also can bind androgen receptor, providing a link between transcriptional activation and splicing.
Interactions
PRPF6 has been shown to interact with TXNL4B, ARAF and Androgen receptor.
References
Further reading
External links
GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview
Spliceosome |
https://en.wikipedia.org/wiki/SERBP1 | Plasminogen activator inhibitor 1 RNA-binding protein (serbp1) is a protein that in humans is encoded by the SERBP1 gene.
Interactions
SERBP1 has been shown to interact with CHD3.
References
Further reading
External links |
https://en.wikipedia.org/wiki/NUPR1 | Nuclear protein 1 is a protein that in humans is encoded by the NUPR1 gene.
References
Further reading |
https://en.wikipedia.org/wiki/NEIL2 | Endonuclease VIII-like 2 is an enzyme that in humans is encoded by the NEIL2 gene.
NEIL2 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by cleaving bases damaged by reactive oxygen species and introducing a DNA strand break via the associated lyase reaction (Bandaru et al., 2002)[supplied by OMIM]
References
Further reading
Human proteins |
https://en.wikipedia.org/wiki/GCNT1 | Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase is an enzyme that in humans is encoded by the GCNT1 gene.
This gene is a member of the beta-1,6-N-acetylglucosaminyltransferase gene family. It is essential to the formation of Gal beta 1-3(GlcNAc beta 1-6)GalNAc structures and the core 2 O-glycan branch. The gene coding this enzyme was originally mapped to 9q21, but was later localized to 9q13. Multiple alternatively spliced variants, encoding the same protein, have been identified.
References
Further reading |
https://en.wikipedia.org/wiki/GDI2 | Rab GDP dissociation inhibitor beta is a protein that in humans is encoded by the GDI2 gene.
GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI2 is ubiquitously expressed. The GDI2 gene contains many repetitive elements indicating that it may be prone to inversion/deletion rearrangements.
References
Further reading |
https://en.wikipedia.org/wiki/GRIN2C | Glutamate [NMDA] receptor subunit epsilon-3 is a protein that in humans is encoded by the GRIN2C gene.
Function
N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed of the key receptor subunit NMDAR1 (GRIN1) and 1 or more of the 4 NMDAR2 subunits: NMDAR2A (GRIN2A), NMDAR2B (GRIN2B), NMDAR2C (GRIN2C), and NMDAR2D (GRIN2D).
Interactions
GRIN2C has been shown to interact with DLG4 and DLG3.
See also
Glutamate receptor
NMDA receptor
References
Further reading
External links
Ionotropic glutamate receptors |
https://en.wikipedia.org/wiki/GSTT2 | Glutathione S-transferase theta-2 is an enzyme that in humans is encoded by the GSTT2 gene.
Glutathione S-transferase (GSTs) theta 2 (GSTT2) is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: Alpha, Mu, Pi, Theta, and Zeta. The theta class members GSTT1 and GSTT2 share 55% amino acid sequence identity and both are thought to have an important role in human carcinogenesis. The theta genes have a similar structure, being composed of five exons with identical exon/intron boundaries.
References
Further reading |
https://en.wikipedia.org/wiki/GUCA1A | Guanylyl cyclase-activating protein 1 is an enzyme that in humans is encoded by the GUCA1A gene.
References
Further reading
EF-hand-containing proteins |
https://en.wikipedia.org/wiki/HIST1H2BB | Histone H2B type 1-B is a protein that in humans is encoded by the HIST1H2BB gene.
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4).
The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3.
References
Further reading |
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