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https://en.wikipedia.org/wiki/CYC1 | Cytochrome c1, heme protein, mitochondrial (CYC1), also known as UQCR4, MC3DN6, Complex III subunit 4, Cytochrome b-c1 complex subunit 4, or Ubiquinol-cytochrome-c reductase complex cytochrome c1 subunit is a protein that in humans is encoded by the CYC1 gene. CYC1 is a respiratory subunit of Ubiquinol Cytochrome c Reductase (complex III), which is located in the inner mitochondrial membrane and is part of the electron transport chain. Mutations in this gene may cause mitochondrial complex III deficiency, nuclear, type 6.
Structure
CYC1 is located on the q arm of chromosome 8 in position 24.3 and has 8 exons. The CYC1 gene produces a 13.5 kDa protein composed of 130 amino acids. CYC1 belongs to the cytochrome c family. CYC1 is a phosphoprotein and subunit of Ubiquinol Cytochrome c Reductase that binds heme groups. It has helix, transit peptide, and transmembrane domains and contains 9 alpha helixes, 5 beta strands, and 3 turns. The transmembrane protein passes through the inner mitochondrial membrane once and the majority of the protein is found on the intermembrane side. CYC1 contains covalent heme bindings sites at positions 121 and 124 and heme axial ligand iron-metal binding sites at positions 125 and 244.
Function
CYC1 encodes a protein that is located in the inner mitochondrial membrane and is part of Ubiquinol Cytochrome c Reductase (complex III). The encoded protein, CYC1, is a respiratory subunit of the cytochrome bc1 complex, which plays an important role in the |
https://en.wikipedia.org/wiki/DLST | Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial is an enzyme that in humans is encoded by the DLST gene.
Interactive pathway map
References
Further reading
Mitochondrial proteins |
https://en.wikipedia.org/wiki/DSC1 | Desmocollin-1 is a protein that in humans is encoded by the DSC1 gene.
The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Alternative splicing results in two transcript variants encoding distinct isoforms.
Interactions
DSC1 has been shown to interact with Desmoglein 2.
References
Further reading |
https://en.wikipedia.org/wiki/EPH%20receptor%20A5 | EPH receptor A5 (ephrin type-A receptor 5) is a protein that in humans is encoded by the EPHA5 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.
References
Further reading |
https://en.wikipedia.org/wiki/ETV1 | ETS translocation variant 1 is a protein that in humans is encoded by the ETV1 gene.
References
Further reading
External links
Transcription factors |
https://en.wikipedia.org/wiki/PQBP1 | Polyglutamine-binding protein 1 (PQBP1) is a protein that in humans is encoded by the PQBP1 gene.
Polyglutamine binding protein-1, which was identified as a binding protein to the polyglutamine tract sequence, is an evolutionally conserved protein expressed in various tissues including developmental and adult brains or mesodermal tissues. In cells, PQBP1 is dominantly located in the nucleus but also in the cytoplasm dependently on the cell type and stress conditions.
It should be of note that PQBP1 has no relationship with QBP1, an artificial synthetic peptide.
Function
PQBP1 is a nuclear polyglutamine-binding protein that contains a WW domain.
The molecular roles of PQBP1 are mainly in mRNA splicing and transcription. PQBP1 interacts with splicing proteins and RNA-binding proteins. PQBP1 deficiency critically affects mRNA splicing of cell cycle and synapse related genes. In addition, recent results indicated implication of PQBP1 in cytoplasmic RNA metabolism and elongation of protein translation from mRNA.
Clinical significance
Mutations in the PQBP1 gene, which encodes for this protein, have been known to cause X-linked intellectual disabilities (XLID), commonly referred to as Renpenning's syndrome. People who suffer from these disabilities share a common set of symptoms including: microcephaly, shortened stature and impaired intellectual development. There are 11 types of mutations that have been identified, but the most common being frameshift mutations. Other |
https://en.wikipedia.org/wiki/TOB1 | Protein Tob1 is a protein that in humans is encoded by the TOB1 gene.
Function
This gene encodes a member of the tob/btg1 family of anti-proliferative proteins that have the potential to regulate cell growth. When exogenously expressed, this protein suppresses cell growth in tissue culture. The protein undergoes phosphorylation by a serine/threonine kinase, 90 kDa ribosomal S6 kinase. Interactions of this protein with the v-erb-b2 erythroblastic leukemia viral oncogene homolog 2 gene product p185 interferes with growth suppression. This protein inhibits T cell proliferation and transcription of cytokines and cyclins. The protein interacts with both mothers against decapentaplegic Drosophila homolog 2 and 4 to enhance their DNA binding activity. This interaction inhibits interleukin 2 transcription in T cells.
Interactions
TOB1 has been shown to interact with:
CNOT7,
MAPK1
MARCKS,
Mitogen-activated protein kinase 9, and
RPS6KA1.
References
Further reading
External links |
https://en.wikipedia.org/wiki/TOPORS | E3 ubiquitin-protein ligase Topors is an enzyme that in humans is encoded by the TOPORS gene.
References
Further reading
External links |
https://en.wikipedia.org/wiki/LILRB2 | Leukocyte immunoglobulin-like receptor subfamily B member 2 is a protein that in humans is encoded by the LILRB2 gene.
This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene.
LILBR2 plays a critical role in the inhibition of axonal regeneration and functional recovery after brain injury. However, recent studies demonstrate that LILRB2 is a β-Amyloid receptor and may contribute to synaptic loss and cognitive impairment in Alzheimer's disease.
Interactions
LILRB2 has been shown to interact with PTPN6.
See also
Cluster of differentiation
References
Further reading
External links
Clusters of differentiation
Immunoglobulin superfamily |
https://en.wikipedia.org/wiki/MERTK | Proto-oncogene tyrosine-protein kinase MER is an enzyme that in humans is encoded by the MERTK gene.
Function
This gene is a member of the TYRO3/AXL/MER (TAM) receptor kinase family and encodes a transmembrane protein with two fibronectin type-III domains, two Ig-like C2-type (immunoglobulin-like) domains, and one tyrosine kinase domain. Mutations in this gene have been associated with disruption of the retinal pigment epithelium (RPE) phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa (RP).
References
Further reading
External links
GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview
Tyrosine kinase receptors |
https://en.wikipedia.org/wiki/TADA3L | Transcriptional adapter 3-like is a protein that in humans is encoded by the TADA3 gene. Cytogenetic location: 3p25.3
Function
Many DNA-binding transcriptional activator proteins enhance the initiation rate of RNA polymerase II-mediated gene transcription by interacting functionally with the general transcription machinery bound at the basal promoter. Adaptor proteins are usually required for this activation, possibly to acetylate and destabilize nucleosomes, thereby relieving chromatin constraints at the promoter. The protein encoded by this gene is a transcriptional activator adaptor and has been found to be part of the PCAF histone acetylase complex. In addition, it associates with the tumor suppressor protein p53 and is required for full activity of p53 and p53-mediated apoptosis. At least four alternatively spliced variants have been found for this gene, but the full-length nature of some variants has not been determined.
Interactions
TADA3L has been shown to interact with:
Retinoic acid receptor alpha,
Retinoid X receptor alpha,
TADA2L,
TAF9,
Transcription initiation protein SPT3 homolog, and
USP5.
References
Further reading |
https://en.wikipedia.org/wiki/HTATIP2 | Oxidoreductase HTATIP2 is an enzyme that in humans is encoded by the HTATIP2 gene. It may be a metastasis suppressor.
References
Further reading |
https://en.wikipedia.org/wiki/EHMT2 | Euchromatic histone-lysine N-methyltransferase 2 (EHMT2), also known as G9a, is a histone methyltransferase enzyme that in humans is encoded by the EHMT2 gene. G9a catalyzes the mono- and di-methylated states of histone H3 at lysine residue 9 (i.e., H3K9me1 and H3K9me2) and lysine residue 27 (H3K27me1 and HeK27me2).
Function
A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. This gene is found near this cluster; it was mapped near the gene for C2 within a 120-kb region that included a HSP70 gene pair. These genes are all within the human major histocompatibility complex class III region. This gene was thought to be two different genes, NG36 and G9a, adjacent to each other but a recent publication shows that there is only a single gene. The protein encoded by this gene is thought to be involved in intracellular protein-protein interaction. There are three alternatively spliced transcript variants of this gene but only two are fully described.
G9a and G9a-like protein, another histone-lysine N-methyltransferase, catalyze the synthesis of H3K9me2, which is a repressive mark. G9a is an important control mechanism for epigenetic regulation within the nucleus accumbens (NAcc); reduced G9a expression in the NAcc plays a central role in mediating the development of an addiction. G9a opposes increases in ΔFosB expression via H3K9me2 and is suppressed by ΔFosB. G9a exerts opposite effects to that of ΔFosB on drug-related beha |
https://en.wikipedia.org/wiki/NUDT21 | Cleavage and polyadenylation specificity factor subunit 5 (CPSF5) is an enzyme that in humans is encoded by the NUDT21 gene. It belongs to the Nudix family of hydrolases.
The protein encoded by this gene is one subunit of the cleavage factor Im complex required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. This gene encodes the 25kD subunit of the protein complex, which is composed of four polypeptides.
References
Further reading
Nudix hydrolases |
https://en.wikipedia.org/wiki/Sly%20Mongoose | Sly Mongoose is the third science fiction novel of Caribbean writer Tobias S. Buckell. The novel is a standalone but is set in the same universe as Buckell's novels Crystal Rain and Ragamuffin. The novels are also linked by a recurring character. The book's title is taken from a Jamaican folk song of the same name.
The book has received several reviews.
References
2008 American novels
2008 science fiction novels
Novels by Tobias S. Buckell
Caribbean in fiction
Tor Books books |
https://en.wikipedia.org/wiki/SUPT16H | FACT complex subunit SPT16 is a protein that in humans is encoded by the SUPT16H gene.
Function
Transcription of protein-coding genes can be reconstituted on naked DNA with only the general transcription factors and RNA polymerase II. However, this minimal system cannot transcribe DNA packaged into chromatin, indicating that accessory factors may facilitate access to DNA. One such factor, FACT (facilitates chromatin transcription), interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT is composed of an 80 kDa subunit and a 140 kDa subunit, the latter of which is the protein encoded by this gene.
Interactions
SUPT16H has been shown to interact with BAZ1B.
References
Further reading
External links |
https://en.wikipedia.org/wiki/COPE%20%28gene%29 | Coatomer subunit epsilon is a protein that in humans is encoded by the COPE gene.
Function
The product of this gene is an epsilon subunit of coatomer protein complex. Coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles. It is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. Coatomer complex consists of at least the alpha, beta, beta', gamma, delta, epsilon and zeta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified.
Interactions
COPE (gene) has been shown to interact with COPA.
References
External links
Further reading |
https://en.wikipedia.org/wiki/Cytoglobin | Cytoglobin is the protein product of CYGB, a human and mammalian gene.
Cytoglobin is a globin molecule ubiquitously expressed in all tissues and most notably utilized in marine mammals. It was discovered in 2001 and named cytoglobin in 2002. It is thought to protect against hypoxia. The predicted function of cytoglobin is the transfer of oxygen from arterial blood to the brain.
Function
Cytoglobin is a ubiquitously expressed hexacoordinate hemoglobin that may facilitate diffusion of oxygen through tissues, scavenge nitric oxide or reactive oxygen species, or serve a protective function during oxidative stress.
Applications
CYGB expression can be used as a specific marker with which hepatic stellate cells can be distinguished from portal myofibroblasts in the damaged human liver.
References
Further reading
External links
Hemoproteins |
https://en.wikipedia.org/wiki/GRIN3A | Glutamate [NMDA] receptor subunit 3A is a protein that in humans is encoded by the GRIN3A gene.
Function
This gene encodes a subunit of the N-methyl-D-aspartate (NMDAR) receptors, which belong to the superfamily of glutamate-regulated ion channels, and function in physiological and pathological processes in the central nervous system. This subunit shows greater than 90% identity to the corresponding subunit in rat. Studies in the knockout mouse deficient in this subunit suggest that this gene may be involved in the development of synaptic elements by modulating NMDA receptor activity.
See also
NMDA receptor
References
Further reading
External links
Ionotropic glutamate receptors |
https://en.wikipedia.org/wiki/PPARGC1B | Peroxisome proliferator-activated receptor gamma coactivator 1-beta is a protein that in humans is encoded by the PPARGC1B gene.
See also
PPARGC1A
Peroxisome proliferator-activated receptor
Peroxisome proliferator-activated receptor alpha
Peroxisome proliferator-activated receptor delta
Peroxisome proliferator-activated receptor gamma
Transcription coregulator
References
Further reading
External links
Gene expression
Transcription coregulators |
https://en.wikipedia.org/wiki/APOBEC3F | DNA dC->dU-editing enzyme APOBEC-3F is a protein that in humans is encoded by the APOBEC3F gene.
This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been identified.
References
Human APOBEC3F is another host factor that blocks human immunodeficiency virus type 1 replication.
Zheng YH, Irwin D, Kurosu T, Tokunaga K, Sata T, Peterlin BM.
J Virol. 2004 Jun;78(11):6073-6. doi: 10.1128/JVI.78.11.6073-6076.2004.
External links
Further reading
EC 3.5.4 |
https://en.wikipedia.org/wiki/GABRB1 | Gamma-aminobutyric acid receptor subunit beta-1 is a protein that in humans is encoded by the GABRB1 gene.
Function
The gamma-aminobutyric acid A receptor (GABAA receptor) is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABAA receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia.
Clinical significance
Mice bearing mutant copies of this gene have been shown to be vulnerable to binge drinking of alcohol.
See also
GABAA receptor
References
Further reading
External links
Ion channels |
https://en.wikipedia.org/wiki/GATM%20%28gene%29 | Glycine amidinotransferase, mitochondrial is an enzyme that in humans is encoded by the GATM gene.
This gene encodes a mitochondrial enzyme that belongs to the Amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by mental retardation, language impairment, and behavioral disorders.
References
Further reading
External links
GeneReviews/NCBI/NIH/UW entry on Creatine Deficiency Syndromes |
https://en.wikipedia.org/wiki/GJA3 | Gap junction alpha-3 protein is a protein that in humans is encoded by the GJA3 gene.
Interactions
GJA3 has been shown to interact with Tight junction protein 1.
References
Further reading
Connexins |
https://en.wikipedia.org/wiki/GPLD1 | Phosphatidylinositol-glycan-specific phospholipase D is an enzyme that in humans is encoded by the GPLD1 gene.
Many proteins are tethered to the extracellular face of eukaryotic plasma membranes by a glycosylphosphatidylinositol (GPI) anchor. The GPI-anchor is a glycolipid found on many blood cells. The protein encoded by the GPLD1 gene is a GPI degrading enzyme that hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans, thereby releasing the attached protein from the plasma membrane.
Plasma concentrations of Gpld1 in mice were found to increase after exercise and to correlate with improved cognitive function, and concentrations of GPLD1 in blood were increased in active elderly humans.
Interactions
GPLD1 has been shown to interact with Apolipoprotein A1 and APOA4.
References
Further reading |
https://en.wikipedia.org/wiki/GRIK1 | Glutamate receptor, ionotropic, kainate 1, also known as GRIK1, is a protein that in humans is encoded by the GRIK1 gene.
Function
This gene encodes one of the many ionotropic glutamate receptor (GluR) subunits that function as a ligand-gated ion channel. The specific GluR subunit encoded by this gene is of the kainate receptor subtype. Receptor assembly and intracellular trafficking of ionotropic glutamate receptors are regulated by RNA editing and alternative splicing. These receptors mediate excitatory neurotransmission and are critical for normal synaptic function. Two alternatively spliced transcript variants that encode different isoforms have been described. Exons of this gene are interspersed with exons from the C21orf41 gene, which is transcribed in the same orientation as this gene but does not seem to encode a protein.
Interactions
GRIK1 has been shown to interact with DLG4, PICK1 and SDCBP.
RNA editing
Type
A to I RNA editing is catalyzed by a family of adenosine deaminases acting on RNA (ADARs) that specifically recognize adenosines within double-stranded regions of pre-mRNAs and deaminate them to inosine. Inosines are recognised as guanosine by the cells translational machinery. There are three members of the ADAR family ADARs 1-3, with ADAR1 and ADAR2 being the only enzymatically active members. ADAR3 is thought to have a regulatory role in the brain. ADAR1 and ADAR2 are widely expressed in tissues, whereas ADAR3 is restricted to the brain. The double-s |
https://en.wikipedia.org/wiki/GRIN2D | Glutamate [NMDA] receptor subunit epsilon-4 is a protein that in humans is encoded by the GRIN2D 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
GRIN2D has been shown to interact with Interleukin 16.
See also
Glutamate receptor
NMDA receptor
References
Further reading
External links
Ionotropic glutamate receptors |
https://en.wikipedia.org/wiki/GSTM2 | Glutathione S-transferase Mu 2 is an enzyme that in humans is encoded by the GSTM2 gene.
Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta.
This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs.
References
Further reading |
https://en.wikipedia.org/wiki/GSTM3 | Glutathione S-transferase M3 (brain), also known as GSTM2, is an enzyme which in humans is encoded by the GSTM99 gene.
Function
Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta, and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including some carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Mutations of this class mu gene have been linked with a slight increase in a number of cancers, likely due to exposure with environmental toxins.
References
Further reading
External links |
https://en.wikipedia.org/wiki/Hepatoma-derived%20growth%20factor | Hepatoma-derived growth factor (HDGF) also known as high mobility group protein 1-like 2 (HMG-1L2) is a protein that in humans is encoded by the HDGF gene.
References
Further reading
External links
PDBe-KB provides an overview of all the structure information available in the PDB for Human Hepatoma-derived growth factor |
https://en.wikipedia.org/wiki/HIC1 | Hypermethylated in cancer 1 protein is a protein that in humans is encoded by the HIC1 gene.
References
Further reading
External links
Transcription factors |
https://en.wikipedia.org/wiki/HLF%20%28gene%29 | Hepatic leukemia factor is a protein that in humans is encoded by the HLF gene.
Function
This gene encodes a member of the proline and acidic-rich (PAR) protein family, a subset of the bZIP transcription factors. The encoded protein forms homodimers or heterodimers with other PAR family members and binds sequence-specific promoter elements to activate transcription. Chromosomal translocations fusing portions of this gene with the E2A gene cause a subset of childhood B-lineage acute lymphoid leukemias. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.
References
Further reading
External links
Transcription factors |
https://en.wikipedia.org/wiki/TPX2 | Targeting protein for Xklp2 is a protein that in humans is encoded by the TPX2 gene. It is one of the many spindle assembly factors that play a key role in inducing microtubule assembly and growth during M phase.
Key domains of TPX2
TPX2 has been reported to have two NLS-containing domains that mediate its localization to microtubules; one in the amino-terminal domain, and the other in the carboxy-terminal domain. In addition to an NLS, the carboxy-terminal domain of TPX2 consists of tandem repeats that cover over two-thirds of the protein and are computationally predicted to consist of predominantly alpha-helical content. This region can be further divided into five clusters of conserved residues separated by unstructured regions: α3-7. α3-6 all contain a central α-helical region that is followed by a characteristic "FKARP" motif. α7 is longer and exhibits a long α-helical stretch that is computationally predicted to form a coiled coil. Lastly, the final 35 amino acids of the carboxy-terminus of TPX2 are responsible for interacting with tetrameric kinesin Eg5.
TPX2 contains one KEN box (K-E-N) motif at amino acid 87 and three D-box (R-X-X-L) motifs at amino acids 119, 341, and 708. Both motif types have been suspected to be important in regulation and degradation of TPX2 by the APC/C (see "Regulation of TPX2 in the Cell Cycle"), as typically mutations in these motifs render substrates resistant to ubiquitination by the APC/C. However, in vitro ubiquitination assays have s |
https://en.wikipedia.org/wiki/RCOR1 | REST corepressor 1 also known as CoREST is a protein that in humans is encoded by the RCOR1 gene.
Function
This gene encodes a protein that is well-conserved, downregulated at birth, and with a specific role in determining neural cell differentiation. The encoded protein binds to the C-terminal domain of REST (repressor element-1 silencing transcription factor).
Interactions
RCOR1 has been shown to interact with
HDAC1,
HDAC2,
HMG20B,
REST and
PHF21A.
References
Further reading |
https://en.wikipedia.org/wiki/CRTC1 | CREB-regulated transcription coactivator 1 (CRTC1), previously referred to as TORC1 (), is a protein that in humans is encoded by the CRTC1 gene. It is expressed in a limited number of tissues that include fetal brain and liver and adult heart, skeletal muscles, liver and salivary glands and various regions of the adult central nervous system.
Clinical significance
Production of CRTC1 is blocked in Alzheimer's disease.
See also
Transcription coregulator
References
Further reading
External links
Gene expression
Transcription coregulators
Immunology
Alzheimer's disease research |
https://en.wikipedia.org/wiki/TAR%20DNA-binding%20protein%2043 | TAR DNA-binding protein 43 (TDP-43, transactive response DNA binding protein 43 kDa) is a protein that in humans is encoded by the TARDBP gene.
Structure
TDP-43 is 414 amino acid residues long. It consists of 4 domains: an N-terminal domain spanning residues 1-76 (NTD) with a well-defined fold that has been shown to form a dimer or oligomer; 2 highly conserved folded RNA recognition motifs spanning residues 106-176 (RRM1) and 191-259 (RRM2), respectively, required to bind target RNA and DNA; an unstructured C-terminal domain encompassing residues 274-414 (CTD), which contains a glycine-rich region, is involved in protein-protein interactions, and harbors most of the mutations associated with familial amyotrophic lateral sclerosis.
The entire protein devoid of large solubilising tags has been purified. The full-length protein is a dimer. The dimer is formed due to a self-interaction between two NTD domains, where the dimerisation can be propagated to form higher-order oligomers.
The protein sequence also has a nuclear localization signal (NLS, residues 82–98), a former nuclear export signal (NES residues 239–250) and 3 putative caspase-3 cleavage sites (residues 13, 89, 219).
In December 2021 the structure of TDP-43 was resolved with cryo-EM but shortly after it was argued that in the context of FTLD-TDP the protein involved could be TMEM106B (which has been also resolved with cryo-EM), rather than of TDP-43.
N-Terminal domain (NTD)
The NTD located between residues 1 a |
https://en.wikipedia.org/wiki/MACF1 | Microtubule-actin cross-linking factor 1, isoforms 1/2/3/5 is a protein that in humans is encoded by the MACF1 gene.
MACF1 encodes a large protein containing numerous spectrin and leucine-rich repeat (LRR) domains. MACF1 is a member of a family of proteins that form bridges between different cytoskeletal elements. This protein facilitates actin-microtubule interactions at the cell periphery and couples the microtubule network to cellular junctions.
MACF1 belongs to a subset of +TIPs or proteins which bind to growing microtubule ends called spectraplakins. Spectraplakins characteristically have distinctive microtubule and actin binding domains, which allow MACF1 to bind to both cytoskeletal elements. MACF1 goes by many names and is also called ACF7 or actin cross-linking factor 7, MACF, macrophin, trabeculin α, and ABP620. Alternatively spliced transcript variants encoding distinct isoforms of MACF1 have been described. MACF1 is also an important protein for cell migration in processes such as wound healing.
Structure
MACF1 is an enormous protein of 5380 amino acid residues. The N-terminal segment has an actin binding domain and the C-terminal segment has a +TIP binding site as well as microtubule interacting domains. This allows MACF1 to crosslink both actin and microtubules. The C-terminal region contains both a Gas2-related domain and a GSR-repeat domain, which both are involved with interacting with microtubules. The C-terminus of MACF1 is thought to associate to the m |
https://en.wikipedia.org/wiki/SUZ12 | Polycomb protein SUZ12 is a protein that in humans is encoded by the SUZ12 gene.
Function
This zinc finger gene has been identified at the breakpoints of a recurrent chromosomal translocation reported in endometrial stromal sarcoma. Recombination of these breakpoints results in the fusion of this gene and JAZF1. The protein encoded by this gene contains a zinc finger domain in the C terminus of the coding region. The specific function of this gene has not yet been determined.
SUZ12, as part of Polycomb Repressive Complex 2 (PRC2), may be involved with chromatin silencing in conjunction with HOTAIR ncRNA, using its zinc-finger domain to bind the RNA molecule.
References
Further reading
External links |
https://en.wikipedia.org/wiki/Cofactor%20of%20BRCA1 | Cofactor of BRCA1, also known as COBRA1, is a human gene that encodes NELF-B.
Function
NELF-B is a subunit of negative elongation factor (NELF), which also includes NELF-A (WHSC2; MIM 606026), either NELF-C or NELF-D (TH1L; MIM 605297), and NELF-E (RDBP; MIM 154040). NELF acts with DRB sensitivity-inducing factor (DSIF), a heterodimer of SPT4 (SUPT4H1; MIM 603555) and SPT5 (SUPT5H; MIM 602102), to cause transcriptional pausing of RNA polymerase II (see MIM 180660). COBRA1 was initially identified in a yeast two-hybrid screen using the BRCT1 domain of BRCA1 as bait.
Interactions
Cofactor of BRCA1 has been shown to interact with:
BRCA1
C-Fos,
C-jun,
Estrogen receptor alpha,
RDBP, and
TH1L.
References
Further reading |
https://en.wikipedia.org/wiki/Protein%20AATF | Protein AATF, also known as apoptosis-antagonizing transcription factor is a protein that in humans is encoded by the AATF gene.
Function
The protein encoded by this gene was identified on the basis of its interaction with MAP3K12/DLK, a protein kinase known to be involved in the induction of cell apoptosis. This gene product contains a leucine zipper, which is a characteristic motif of transcription factors, and was shown to exhibit strong transactivation activity when fused to Gal4 DNA binding domain. Overexpression of this gene interfered with MAP3K12 induced apoptosis.
Interactions
Protein AATF has been shown to interact with:
PAWR,
POLR2J,
Retinoblastoma protein, and
Transcription factor Sp1.
References
Further reading
External links
Transcription factors |
https://en.wikipedia.org/wiki/HBP1 | HMG-box transcription factor 1, also known as HBP1, is a human protein.
Interactions
HBP1 has been shown to interact with SIN3A and Retinoblastoma protein.
References
Further reading
External links
Transcription factors |
https://en.wikipedia.org/wiki/CYFIP2 | Cytoplasmic FMR1-interacting protein 2 is a protein that in humans is encoded by the CYFIP2 gene. Cytoplasmic FMR1 interacting protein is a 1253 amino acid long protein and is highly conserved sharing 99% sequence identity to the mouse protein. It is expressed mainly in brain tissues, white blood cells and the kidney.
Interactions
CYFIP2 has been shown to interact with FMR1. CYFIP2 is a p-53 inducible protein and also interacts with the Fragile=X mental retardation protein.
RNA editing
The pre-mRNA of this protein is subject to RNA editing. The editing site was previously recorded as a single nucleotide polymorphism (rs3207362) in the dbSNP.
Type
A to I RNA editing is catalyzed by a family of adenosine deaminases acting on RNA (ADARs) that specifically recognize adenosines within double-stranded regions of pre-mRNAs and deaminate them to inosine. Inosines are recognised as guanosine by the cells translational machinery. There are three members of the ADAR family ADARs 1-3 with ADAR1 and ADAR2 being the only enzymatically active members. ADAR3 is thought to have a regulatory role in the brain. ADAR1 and ADAR 2 are widely expressed in tissues while ADAR3 is restricted to the brain. The double stranded regions of RNA are formed by base-pairing between residues in the close to region of the editing site with residues usually in a neighboring intron but can be an exonic sequence. The region that base pairs with the editing region is known as an Editing Complementa |
https://en.wikipedia.org/wiki/DKK3 | Dickkopf-related protein 3 is a protein in the Dickkopf family that in humans is encoded by the DKK3 gene.
This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. The expression of this gene is decreased in a variety of cancer cell lines and it may function as a tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding the same protein.
References
Further reading |
https://en.wikipedia.org/wiki/ARHGDIB | Rho GDP-dissociation inhibitor 2 is a protein that in humans is encoded by the ARHGDIB gene. Aliases of this gene include RhoGDI2, GDID4, Rho GDI 2, and others.
Interactions
ARHGDIB has been shown to interact with VAV1 and Src.
Gene family
RhoGDI2 (ARHGDIB) is part of a family of three members: RhoGDI1, RhoGDI2 (also known as RhoGDIB, D4-GDI or Ly-GDI) and RhoGDI3. RhoGDI1 is expressed in many organs and is the best studied member of the family. RhoGDI2 was initially believed to be expressed specifically in blood forming cells, but has subsequently been found to be highly expressed in a variety of other cell types as well. RhoGDI3 is predominantly expressed in brain, lung, kidney, testis and pancreas, and is targeted to specific parts of the cell such as the Golgi where it may play a role in transport or proteins in cells.
Disease involvement
Despite a high degree of sequence similarity, RhoGDI1 and RhoGDI2 are very different in their binding affinities for specific GTPases, and more importantly, in their roles in tumor formation and spread of tumor to other organs (the process of metastasis). For example, RhoGDI2 functions as a suppressor of metastasis but not a tumor suppressor in bladder cancer cells, while RhoGDI1 is a ubiquitous suppressor of tumor growth in all sites so far examined in bladder cancer models), suggesting that their cellular functions must diverge to cause these differential effects.
While there are clear links between the alteration of RhoGDI2 p |
https://en.wikipedia.org/wiki/ASAH1 | The ASAH1 gene encodes in humans the acid ceramidase enzyme.
Function
This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease and, recently, with a rare neurodegenerative condition known as spinal muscular atrophy with progressive myoclonic epilepsy. Two transcript variants encoding distinct isoforms have been identified for this gene. In melanocytic cells ASAH1 gene expression may be regulated by MITF.
As a glioblastoma drug target
ASAH1 expression is upregulated following radiation, suggesting it plays a role in conferring radioresistance to glioblastoma and in the development of recurrent glioblastoma. Inhibiting the activity of ASAH1 with carmofur, a drug that has been approved for clinical treatment of colorectal cancers in several countries, leads to substantial cell deaths and as a result has been proposed as a drug target in the treatment of glioblastoma. It has also been suggested to be a novel drug target against pediatric brain tumors as well.
References
External links
Further reading |
https://en.wikipedia.org/wiki/ATOX1 | ATOX1 is a copper metallochaperone protein that is encoded by the ATOX1 gene in humans. In mammals, ATOX1 plays a key role in copper homeostasis as it delivers copper from the cytosol to transporters ATP7A and ATP7B. Homologous proteins are found in a wide variety of eukaryotes, including Saccharomyces cerevisiae as ATX1, and all contain a conserved metal binding domain.
Function
ATOX1 is an abbreviation of the full name Antioxidant Protein 1. The nomenclature stems from initial characterization that showed that ATOX1 protected cells from reactive oxygen species. Since then, the primary role of ATOX1 has been established as a copper metallochaperone protein found in the cytoplasm of eukaryotes. A metallochaperone is an important protein that has metal trafficking and sequestration roles. As a metal sequestration protein, ATOX1 is capable of binding free metals in vivo, in order to protect cells from generation of reactive oxygen species and mismetallation of metalloproteins. As a metal trafficking protein, ATOX1 is responsible for shuttling copper from the cytosol to ATPase transporters ATP7A and ATP7B that move copper to the trans-Golgi network or secretory vesicles. In Saccharomyces cerevisiae, Atx1 delivers Cu(I) to a homologous transporter, Ccc2. The delivery of copper to ATPase transporters is vital for the subsequent insertion of copper into ceruloplasmin, a ferroxidase required for iron metabolism, within the golgi apparatus.
In addition to the metallochaperone func |
https://en.wikipedia.org/wiki/HOXA7 | Homeobox protein Hox-A7 is a protein that in humans is encoded by the HOXA7 gene.
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. For example, the encoded protein represses the transcription of differentiation-specific genes during keratinocyte proliferation, but this repression is then overcome by differentiation signals. This gene is highly similar to the antennapedia (Antp) gene of Drosophila.
See also
Homeobox
References
Further reading
External links
Transcription factors |
https://en.wikipedia.org/wiki/HOXA13 | Homeobox protein Hox-A13 is a protein that in humans is encoded by the HOXA13 gene.
Function
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation.
Clinical significance
Expansion of a polyalanine tract in the encoded protein can cause hand-foot-genital syndrome, also known as hand-foot-uterus syndrome. Aberrant expression of HoxA13 gene products in the esophagus, provokes Barrett’s esophagus, a form of metaplasia that is a direct precursor to esophageal cancer.
See also
Homeobox
References
Further reading
External links
GeneReviews/NCBI/NIH/UW entry on Hand-Foot-Genital Syndrome
Transcription factors |
https://en.wikipedia.org/wiki/HSPA2 | Heat shock-related 70 kDa protein 2 is a protein that in humans is encoded by the HSPA2 gene.
References
Further reading
External links
Heat shock proteins |
https://en.wikipedia.org/wiki/Histatin%203 | Histatin 3, also known as HTN3, is a protein which in humans is encoded by the HTN3 gene.
Function
The primary protein encoded by HTN3 is histatin 3. Histatins are a family of small, histidine-rich, salivary proteins, encoded by at least two loci (HTN3 and HTN1). Post-translational proteolytic processing results in many histatins: e.g., histatins 4-6 are derived from histatin 3 by proteolysis. Histatins 1 and 3 are primary products of HIS1(1) and HIS2(1) alleles, respectively. Histatins are believed to have important non-immunological, anti-microbial function in the oral cavity. Histatin 1 and histatin 2 are major wound-closing factors in human saliva.
References
Further reading
Antimicrobial peptides |
https://en.wikipedia.org/wiki/Interleukin%2012%20receptor%2C%20beta%202%20subunit | Interleukin 12 receptor, beta 2 subunit is a subunit of the interleukin 12 receptor. IL12RB2 is its human gene. IL12RB2 orthologs have been identified in all mammals for which complete genome data are available.
The protein encoded by this gene is a type I transmembrane protein identified as a subunit of the interleukin 12 receptor complex. The co-expression of this and IL12Rβ1 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. While the IL12Rβ1 subunit is constitutively expressed, the expression of the IL12RB2 gene is up-regulated by interferon gamma. In Th1 cells, IL-12 signaling through the IL12 receptor leads to the phosphorylation of STAT4 and continued Th1 differentiation. The IL12Rβ2 subunit plays an important role in Th1 cell differentiation, since its absence leads to an abortive Th1 differentiation that has dysfunctional production of Th1 effector molecules. The up-regulation of this gene is found to be associated with a number of infectious diseases, such as Crohn's disease and leprosy, which is thought to contribute to the inflammatory response and host defense.
Interactions
Interleukin 12 receptor, beta 2 subunit has been shown to interact with Janus kinase 2.
RNA editing
The mRNA of this protein is subject to RNA editing.
References
Further reading |
https://en.wikipedia.org/wiki/Interleukin%2013%20receptor%2C%20alpha%201 | Interleukin 13 receptor, alpha 1, also known as IL13RA1 and CD213A1 (cluster of differentiation 213A1), is a human gene.
The protein encoded by this gene is a subunit of the interleukin 13 receptor. This subunit forms a receptor complex with IL4 receptor alpha, a subunit shared by IL13 and IL4 receptors. This subunit serves as a primary IL13-binding subunit of the IL13 receptor, and may also be a component of IL4 receptors. This protein has been shown to bind tyrosine kinase TYK2, and thus may mediate the signaling processes that lead to the activation of JAK1, STAT3 and STAT6 induced by IL13 and IL4.
See also
Interleukin-13 receptor
References
Further reading
External links
Clusters of differentiation |
https://en.wikipedia.org/wiki/KCNB1 | Potassium voltage-gated channel, Shab-related subfamily, member 1, also known as KCNB1 or Kv2.1, is a protein that, in humans, is encoded by the KCNB1 gene.
Potassium voltage-gated channel subfamily B member one, or simply known as KCNB1, is a delayed rectifier and voltage-gated potassium channel found throughout the body. The channel has a diverse number of functions. However, its main function, as a delayed rectifier, is to propagate current in its respective location. It is commonly expressed in the central nervous system, but may also be found in pulmonary arteries, auditory outer hair cells, stem cells, the retina, and organs such as the heart and pancreas. Modulation of K+ channel activity and expression has been found to be at the crux of many profound pathophysiological disorders in several cell types.
Potassium channels are among the most diverse of all ion channels in eukaryotes. With over 100 genes coding numerous functions, many isoforms of potassium channels are present in the body, but most are divided up into two main groups: inactivating transient channels and non-inactivating delayed rectifiers. Due to the multiple varied forms, potassium delayed rectifier channels open or close in response to a myriad of signals. These include: cell depolarization or hyperpolarization, increases in intracellular calcium concentrations, neurotransmitter binding, or second messenger activity such as G-proteins or kinases.
Structure
The general structure of all potassium ch |
https://en.wikipedia.org/wiki/KCNJ5 | G protein-activated inward rectifier potassium channel 4 (GIRK-4) is a protein that in humans is encoded by the KCNJ5 gene and is a type of G protein-gated ion channel.
Function
Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. It may associate with other G-protein-activated potassium channel subunits to form a heterotetrameric pore-forming complex.
In humans KCNJ5 is mainly expressed in adrenal gland and pituitary, although it is also detected at low levels in pancreas, spleen, lung, heart and brain. Consistent with this expression pattern, mutations in KCNJ5/Kir3.4 can cause familial hyperaldosteronism type III and a type of long QT syndrome.
Interactions
KCNJ5 has been shown to interact with KCNJ3.
See also
G protein-coupled inwardly-rectifying potassium channel
Inward-rectifier potassium ion channel
References
Further reading
External links
GTEX portal: KCNJ5 expression in human tissue
Ion channels |
https://en.wikipedia.org/wiki/LPP%20%28gene%29 | Lipoma-preferred partner is a protein that in humans is encoded by the LPP gene.
Function
Lipoma-preferred partner is a subfamily of LIM domain proteins that are characterized by an N-terminal proline rich region and three C-terminal LIM domains. The encoded protein localizes to the cell periphery in focal adhesions and may be involved in cell-cell adhesion and cell motility. This protein also shuttles through the nucleus and may function as a transcriptional co-activator. This gene is located at the junction of certain disease related chromosomal translocations which result in the expression of fusion proteins that may promote tumor growth.
References
Further reading |
https://en.wikipedia.org/wiki/MEP1A | Meprin A subunit alpha also known as endopeptidase-2 or PABA peptide hydrolase is the alpha subunit of the meprin A enzyme that in humans is encoded by the MEP1A gene. The MEP1A locus is on chromosome 6p in humans and on chromosome 17 in mice.
Function
The meprin alpha subunit product of the MEP1A gene is processed in the endoplasmic reticulum during intracellular transport, and is secreted as homomeric meprin A. Meprin alpha subunits may self-associate, and once secreted, form very large multimers, with a molecular mass of over 1 million daltons. In cells concurrently expressing MEP1B, the meprin alpha and meprin beta subunits form disulfide dimers that interact to form membrane bound heterotetrameric meprin A.
References
Further reading |
https://en.wikipedia.org/wiki/MMP16 | Matrix metalloproteinase-16 is an enzyme that in humans is encoded by the MMP16 gene.
Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. This gene produces at least two transcripts, one which encodes a membrane-bound form and another a soluble form of the protein. Both forms of the protein activate MMP2 by cleavage. This gene was once referred to as MT-MMP2, but was renamed as MT-MMP3 or MMP16.
References
Further reading
External links
The MEROPS online database for peptidases and their inhibitors: M10.016
Matrix metalloproteinases
EC 3.4.24 |
https://en.wikipedia.org/wiki/Myosin-11 | Myosin-11 is a protein that in humans is encoded by the MYH11 gene.
Function
Myosin-11 is a smooth muscle myosin belonging to the myosin heavy chain family. Myosin-11 is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits.
It is a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP.
Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation.
Clinical significance
Thoracic aortic aneurysms leading to acute aortic dissections (TAAD) can be inherited in isolation or in association with genetic syndromes, such as Marfan syndrome and Loeys-Dietz syndrome. When TAAD occurs in the absence of syndromic features, it is inherited in an autosomal dominant manner with decreased penetrance and variable expression, the disease is referred to as familial TAAD. Familial TAAD exhibits significant clinical and genetic heterogeneity. Mutations in MYH11 have been described in individuals with TAAD with patent ductus arteriosus (PDA). Of individuals with TAAD, approximately 4% have mutations in TGFBR2, and approximately 1-2% have mutations in either TGFBR1 or MYH11. In addition, FBN1 mutations have also been reported in individuals with TAAD. Mutations within the SMAD3 gene have recently been reported in patients with a syndromic form of aortic aneurysms and dissections with early onset ost |
https://en.wikipedia.org/wiki/MYO9B | MYO9B is a gene that encodes the Myosin-IXb protein.
References
Further reading
External links |
https://en.wikipedia.org/wiki/NAGA%20%28gene%29 | Alpha-N-acetylgalactosaminidase is an enzyme that in humans is encoded by the NAGA gene.
NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Kanzaki disease).
References
Further reading
External links
Human proteins |
https://en.wikipedia.org/wiki/NDUFS4 | NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial (NDUFS4) also known as NADH-ubiquinone oxidoreductase 18 kDa subunit is an enzyme that in humans is encoded by the NDUFS4 gene. This gene encodes a nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome.
Structure
NDUFS4 is located on the q arm of chromosome 5 in position 11.2 and has 8 exons. The NDUFS4 gene produces a 20.1 kDa protein composed of 175 amino acids. NDUFS4, the protein encoded by this gene, is a member of the complex I NDUFS4 subunit family. It is a peripheral membrane protein located on the matrix side of the inner mitochondrial membrane. NDUFS4 is a component of the iron-sulfur (IP) fragment of the enzyme and contains a transit peptide domain, 4 turns, 6 beta strands, and 4 alpha helixes. Alternative splicing results in multiple transcript variants.
Function
Complex I, or NADH:ubiquinone oxidoreductase, the first multisubunit enzyme complex of the mitochondrial respiratory chain, plays a vital role in cellular ATP production, the primary source of energy for many crucial processes in living cells. It removes electrons from NADH and passes them by a series of different protein-coupled redox centers to the electro |
https://en.wikipedia.org/wiki/NEFM | Neurofilament medium polypeptide (NF-M) is a protein that in humans is encoded by the NEFM gene.
Function
Neurofilaments are type IV intermediate filament heteropolymers composed of light (NEFL), medium (this protein), and heavy (NEFH) chains. Neurofilaments comprise the exoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the medium neurofilament protein. This protein is commonly used as a biomarker of neuronal damage.
References
Further reading
Human proteins |
https://en.wikipedia.org/wiki/NAD%28P%29H%20dehydrogenase%2C%20quinone%202 | NAD(P)H dehydrogenase, quinone 2, also known as QR2, is a protein that in humans is encoded by the NQO2 gene. It is a phase II detoxification enzyme which can carry out two or four electron reductions of quinones. Its mechanism of reduction is through a ping-pong mechanism involving its FAD cofactor. Initially in a reductive phase NQO2 binds to reduced dihydronicotinamide riboside (NRH) electron donor, and mediates a hydride transfer from NRH to FAD. Then, in an oxidative phase, NQO2 binds to its quinone substrate and reduces the quinone to a dihydroquinone. Besides the two catalytic FAD, NQO2 also has two zinc ions. It is not clear whether the metal has a catalytic role. NQO2 is a paralog of NQO1.
NQO2 is a homodimer. NQO2 can be inhibited by resveratrol. One of QR2's binding sites responds to 2-iodomelatonin, and has been referred to as MT3.
References
Further reading
External links |
https://en.wikipedia.org/wiki/PCK1 | Phosphoenolpyruvate carboxykinase 1 (soluble), also known as PCK1, is an enzyme which in humans is encoded by the PCK1 gene.
Function
This enzyme is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expression of this gene can be regulated by insulin, glucocorticoids, glucagon, cAMP, and diet. A mitochondrial isozyme of the encoded protein also has been characterized.
Interactive pathway map
See also
PEPCK
References
Further reading |
https://en.wikipedia.org/wiki/Phosducin | Phosducin, also known as PDC, is a human protein and gene. It belongs to the phosducin family of proteins.
This gene encodes a phosphoprotein, which is located in the outer and inner segments of the rod cells in the retina. This protein may participate in the regulation of visual phototransduction or in the integration of photoreceptor metabolism. It modulates the phototransduction cascade by interacting with the beta and gamma subunits of the retinal G-protein transducin. By associating with these subunits only, the transducin alpha subunit will remain active for longer. This will increase the amount of time of visual excitation.
This gene is a potential candidate gene for retinitis pigmentosa and Usher syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified.
See also
Phosducin family
References
Further reading |
https://en.wikipedia.org/wiki/COPS4 | COP9 signalosome complex subunit 4 is a protein that in humans is encoded by the COPS4 gene.
This gene encodes one of eight subunits composing COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases.
References
External links
Further reading |
https://en.wikipedia.org/wiki/Ninein | Ninein is a protein that in humans is encoded by the NIN gene.
Function
Ninein, together with its paralog Ninein-like protein is one of the proteins important for centrosomal function. Localization of this protein to the centrosome requires three leucine zippers in the central coiled-coil domain. Multiple alternatively spliced transcript variants that encode different isoforms have been reported.
This protein is important for positioning and anchoring the microtubules minus-ends in epithelial cells.
References
Further reading
EF-hand-containing proteins |
https://en.wikipedia.org/wiki/PEX14 | Peroxisomal membrane protein PEX14 is a protein that in humans is encoded by the PEX14 gene.
Function
This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome.
Interactions
PEX14 has been shown to interact with
PEX5,
PEX7, and
PEX13.
References
Further reading
External links
GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
OMIM entries on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum |
https://en.wikipedia.org/wiki/PFN2 | Profilin-2 is a protein that in humans is encoded by the PFN2 gene.
The protein encoded by this gene is a ubiquitous actin monomer-binding protein belonging to the profilin family. It is thought to regulate actin polymerization in response to extracellular signals. There are two alternatively spliced transcript variants encoding different isoforms described for this gene.
Interactions
PFN2 has been shown to interact with ROCK1, Vasodilator-stimulated phosphoprotein, CCDC113 and FMNL1.
References
Further reading
External links |
https://en.wikipedia.org/wiki/PI4KA | Phosphatidylinositol 4-kinase alpha is an enzyme that in humans is encoded by the PI4KA gene.
Function
This gene encodes a 1-phosphatidylinositol 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. Two transcript variants encoding different isoforms have been described for this gene.
Clinical significance
The alpha isoform of PI4KIII plays a role in replication of hepatitis C virus (HCV). Furthermore, the PI4KA lipid kinase affects HCV replication by altering phosphorylation of the HCV NS5A protein.
References
Further reading
EC 2.7.1 |
https://en.wikipedia.org/wiki/PON3 | Paraoxonase 3, also known as PON3, is a protein which in humans is encoded by the PON3 gene.
Function
This gene is a member of the paraoxonase family and lies in a cluster on chromosome 7 with the other two family members. The encoded protein is secreted into the bloodstream and associates with high-density lipoprotein (HDL). The protein also rapidly hydrolyzes lactones and can inhibit the oxidation of low-density lipoprotein (LDL), a function that is believed to slow the initiation and progression of atherosclerosis. Alternatively spliced variants which encode different protein isoforms have been described; however, only one has been fully characterized.
References
Further reading |
https://en.wikipedia.org/wiki/PPP2R2C | Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B gamma isoform is an enzyme that in humans is encoded by the PPP2R2C gene.
Function
The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma isoform of the regulatory subunit B55 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified.
References
Further reading |
https://en.wikipedia.org/wiki/PPP3CB | Serine/threonine-protein phosphatase 2B catalytic subunit beta isoform (PP2BB) is an enzyme that in humans is encoded by the PPP3CB gene.
References
Further reading |
https://en.wikipedia.org/wiki/PPP3R1 | Calcineurin subunit B type 1 also known as protein phosphatase 2B regulatory subunit 1 is a protein that in humans is encoded by the PPP3R1 gene.
Clinical significance
The presence of a single nucleotide polymorphism rs1868402 in the PPP3R1 gene is strongly correlated with rapid progress of Alzheimer's disease.
References
Further reading
EF-hand-containing proteins |
https://en.wikipedia.org/wiki/PRKAG1 | 5'-AMP-activated protein kinase subunit gamma-1 is an enzyme that in humans is encoded by the PRKAG1 gene.
Function
The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit is one of the gamma regulatory subunits of AMPK. Alternatively spliced transcript variants encoding distinct isoforms have been observed.
Interactions
PRKAG1 has been shown to interact with PRKAB2 and PRKAB1.
References
Further reading
External links
PDBe-KB provides an overview of all the structure information available in the PDB for Human 5'-AMP-activated protein kinase subunit gamma-1 (PRKAG1)
EC 2.7.11 |
https://en.wikipedia.org/wiki/Proline%20oxidase | Proline dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the PRODH gene.
The protein encoded by this gene is a mitochondrial proline dehydrogenase which catalyzes the first step in proline catabolism. Deletion of this gene has been associated with type I hyperprolinemia. The gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes: DiGeorge syndrome and CATCH22 syndrome.
Function
Proline oxidase, or proline dehydrogenase, functions as the initiator of the proline cycle. Proline metabolism is especially important in nutrient stress because proline is readily available from the breakdown of extracellular matrix (ECM), and the degradation of proline through the proline cycle initiated by proline oxidase (PRODH), a mitochondrial inner membrane enzyme, can generate ATP. This degradative pathway generates glutamate and alpha-ketoglutarate, products that can play an anaplerotic role for the TCA cycle. The proline cycle is also in a metabolic interlock with the pentose phosphate pathway providing another bioenergetic mechanism. The induction of stress either by glucose withdrawal or by treatment with rapamycin, stimulated degradation of proline and increased PRODH catalytic activity. Under these conditions PRODH was responsible, at least in part, for maintenance of ATP levels. Activation of AMP-activated protein kinase (AMPK), the cellular energy sensor, by 5-aminoimidazole-4-carboxamide ribo |
https://en.wikipedia.org/wiki/PTPRM | Receptor-type tyrosine-protein phosphatase mu is an enzyme that in humans is encoded by the PTPRM gene.
Function
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. Protein tyrosine phosphatases are protein enzymes that remove phosphate moieties from tyrosine residues on other proteins. Tyrosine kinases are enzymes that add phosphates to tyrosine residues, and are the opposing enzymes to PTPs. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. PTPs can be both cytosolic and transmembrane.
Structure
Transmembrane PTPs are known as receptor protein tyrosine phosphatases (RPTPs). RPTPs are single pass transmembrane proteins usually with one or two catalytic domains in their intracellular domain (the part of the protein that is inside the cell) and diverse extracellular structures (the part of the protein that is outside the cell).
PTPmu possesses an extracellular region, a single transmembrane region, a 158 amino acid long juxtamembrane domain and two tandem tyrosine phosphatase domains (referred to as D1 and D2) in its intracellular domain, and thus represents an RPTP. Only the membrane proximal phosphatase domain, D1, is catalytically active. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. There are other RPTPs that res |
https://en.wikipedia.org/wiki/RAD51L3 | DNA repair protein RAD51 homolog 4 is a protein that in humans is encoded by the RAD51L3 gene.
Function
The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, which are known to be involved in the homologous recombination and repair of DNA. This protein forms a complex with several other members of the RAD51 family, including RAD51L1, RAD51L2, and XRCC2. The protein complex formed with this protein has been shown to catalyze homologous pairing between single- and double-stranded DNA, and is thought to play a role in the early stage of recombinational repair of DNA. Several alternatively spliced transcript variants of this gene have been described, but the biological validity of some of them has not been determined.
Interactions
RAD51L3 has been shown to interact with:
Bloom syndrome protein,
RAD51C, and
XRCC2.
References
Further reading |
https://en.wikipedia.org/wiki/RFX5 | DNA-binding protein RFX5 is a protein that in humans is encoded by the RFX5 gene.
Function
A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the Xbox of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined.
Interactions
RFX5 has been shown to interact with CIITA.
References
Further reading
External links
Transcription factors |
https://en.wikipedia.org/wiki/RGS3 | Regulator of G-protein signaling 3 is a protein that in humans is encoded by the RGS3 gene.
This gene encodes a member of the regulator of G-protein signaling (RGS) family. This protein is a GTP-ase activating protein which inhibits G-protein mediated signal transduction. The protein is largely cytosolic, but G-protein activation leads to translocation of this protein to the plasma membrane. A nuclear form of this protein has also been described, but its sequence has not been identified. Multiple alternatively spliced transcript variants have been described for this gene but the full-length nature of some transcripts is not yet known.
References
Further reading |
https://en.wikipedia.org/wiki/60S%20ribosomal%20protein%20L6 | 60S ribosomal protein L6 is a protein that in humans is encoded by the RPL6 gene.
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 ribosomal protein that is a component of the 60S subunit. The protein belongs to the L6E family of ribosomal proteins. It is located in the cytoplasm. The protein can bind specifically to domain C of the tax-responsive enhancer element of human T-cell leukemia virus type 1, and it has been suggested that the protein may participate in tax-mediated transactivation of transcription. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Two alternatively spliced transcript variants encoding the same protein have been found for this gene.
Interactions
RPL6 has been shown to interact with Basic fibroblast growth factor.
References
Further reading
Ribosomal proteins |
https://en.wikipedia.org/wiki/CCL3L1 | Chemokine (C-C motif) ligand 3-like 1, also known as CCL3L1, is a protein which in humans is encoded by the CCL3L1 gene.
Function
This gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. Specifically, chemokines attract lymphocytes to sites of infection or damage. This protein binds to several chemokine receptors including chemokine binding protein 2 (CCBP2 or D6) and chemokine (C-C motif) receptor 5 (CCR5).
CCR5 is a co-receptor for HIV, and binding of CCL3L1 to CCR5 inhibits HIV entry. Furthermore, the binding causes the receptor to be taken inside the cell by endocytosis, to eventually be reprocessed and re-expressed.
Gene organization
The human genome reference assembly contains two full copies of the gene (CCL3L1 and CCL3L3) and an additional partial duplication, which is thought to result in a pseudogene, designated CCL3L2. This record represents the more telomeric full-length gene.
Clinical significance
The copy number of this gene varies among individuals. This is hypothesized to be due to segmental duplication of the region containing CCL3. Most individuals have 1-6 copies in the diploid genome, although rare individuals have zero or more than six copies. With increased copy number, there is more CCL3L1 expressed, and so competition for the CCR5 binding site is increased. This leads to slower advancement of disease in HIV-infec |
https://en.wikipedia.org/wiki/SFRS5 | Splicing factor, arginine/serine-rich 5 is a protein that in humans is encoded by the SFRS5 gene.
References
Further reading |
https://en.wikipedia.org/wiki/GABA%20transporter%20type%201 | GABA transporter 1 (GAT1) also known as sodium- and chloride-dependent GABA transporter 1 is a protein that in humans is encoded by the SLC6A1 gene and belongs to the solute carrier 6 (SLC6) family of transporters. It mediates gamma-aminobutyric acid's translocation from the extracellular to intracellular spaces within brain tissue and the central nervous system as a whole.
Structure
GAT1 is a 599 amino acid protein that consists of 12 transmembrane domains with an intracellular N-terminus and C-terminus.
Function
GAT1 is a gamma-aminobutyric acid (GABA) transporter, which removes GABA from the synaptic cleft by shuttling it to presynaptic neurons (where GABA can be recycled) and astrocytes (where GABA can be broken down). GABA Transporter 1 uses energy from the dissipation of a Na+ gradient, aided by the presence of a Cl− gradient, to translocate GABA across CNS neuronal membranes. The stoichiometry for GABA Transporter 1 is 2 Na+: 1 Cl−: 1 GABA. The presence of a Cl−/Cl− exchange is also proposed because the Cl− transported across the membrane does not affect the net charge. GABA is also the primary inhibitory neurotransmitter in the cerebral cortex and has the highest level of expression within it. The GABA affinity (Km) of the mouse isoform of GAT1 is 8 μM.
In the brain of a mature mammal, glutamate is converted to GABA by the enzyme glutamate decarboxylase (GAD) along with the addition of vitamin B6. GABA is then packed and released into the post-synaptic terminals |
https://en.wikipedia.org/wiki/Small%20nuclear%20ribonucleoprotein%20polypeptide%20F | Small nuclear ribonucleoprotein F is a protein that in humans is encoded by the SNRPF gene.
Interactions
Small nuclear ribonucleoprotein polypeptide F has been shown to interact with DDX20, Small nuclear ribonucleoprotein D2 and Small nuclear ribonucleoprotein polypeptide E.
References
Further reading |
https://en.wikipedia.org/wiki/SNTB2 | Beta-2-syntrophin is a protein that in humans is encoded by the SNTB2 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
SNTB2 has been shown to interact with ABCA1.
References
Further reading |
https://en.wikipedia.org/wiki/ZAK | Sterile alpha motif and leucine zipper containing kinase AZK, also known as ZAK, is a human gene.
This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
Interactions
ZAK has been shown to interact with ZNF33A.
References
Further reading
EC 2.7.11 |
https://en.wikipedia.org/wiki/Dual%20oxidase%201 | Dual oxidase 1, also known as DUOX1 or ThOX1 (for thyroid oxidase), is an enzyme which in humans is encoded by the DUOX1 gene. DUOX1 was first identified in the mammalian thyroid gland. In humans, two isoforms are found; hDUOX1 and hDUOX2. Human DUOX protein localization is not exclusive to thyroid tissue; hDUOX1 is prominent in airway epithelial cells and hDUOX2 in the salivary glands and gastrointestinal tract.
Function
Investigations into reactive oxygen species (ROS) in biological systems have, until recently, focused on characterization of phagocytic cell processes. It is now well accepted that production of such species is not restricted to phagocytic cells and can occur in eukaryotic, non-phagocytic cell types via NADPH oxidase (NOX) or dual oxidase (DUOX). This new family of proteins, termed the NOX/DUOX family or NOX family of NADPH oxidases, consists of homologs to the catalytic moiety of phagocytic NADPH-oxidase, gp91phox. Members of the NOX/DUOX family have been found throughout eukaryotic species, including invertebrates, insects, nematodes, fungi, amoeba, alga, and plants (not found in prokaryotes). These enzymes clearly demonstrate regulated production of ROS as their sole function. Genetic analyses have implicated NOX/DUOX derived ROS in biological roles and pathological conditions including hypertension (NOX1), innate immunity (NOX2/DUOX), otoconia formation in the inner ear (NOX3), and thyroid hormone biosynthesis (DUOX1/2). The family currently has |
https://en.wikipedia.org/wiki/EXOC4 | Exocyst complex component 4 is a protein that in humans is encoded by the EXOC4 gene.
Function
The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
Interactions
EXOC4 has been shown to interact with:
DLG3,
DLG4,
EXOC3,
EXOC7, and
GRIN2B.
References
Further reading |
https://en.wikipedia.org/wiki/LMBR1 | Limb region 1 protein homolog is a protein that in humans is encoded by the LMBR1 gene.
This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog (protein) gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but if this gene functions directly in limb development is unknown. Mutations and chromosomal deletions and rearrangements in this genic region are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic hedgehog expression.
References
Further reading |
https://en.wikipedia.org/wiki/Golgi%20reassembly-stacking%20protein%201 | Golgi reassembly-stacking protein 1 (GORASP1) also known as Golgi reassembly-stacking protein of 65 kDa (GRASP65) is a protein that in humans is encoded by the GORASP1 gene.
Function
The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The GORASP1 protein is a peripheral membrane protein anchored to the lipid bilayer through myristoylation of a glycine residue near the protein's amino terminus. It is involved in establishing the stacked structure of the Golgi apparatus and linking the stacks into larger ribbons in vertebrate cells. It is a caspase-3 substrate, and cleavage of this encoded protein contributes to Golgi fragmentation in apoptosis. GORASP1 can form a complex with the Golgi matrix protein GM130, and this complex binds to the vesicle docking protein p115. Several alternatively spliced transcript variants of this gene have been identified, but their full-length natures have not been determined.
Structure
GORASP1 contains two PDZ domains in the amino-terminal GRASP domain (amino acid residues 2–210), that comprises approximately half of the protein. The GRASP region interacts with the Golgi matrix protein GM130 as well as an intrinsically disordered region in the C-terminus.
Interactions
GORASP1 has been shown to interact with TGF alpha, TMED2 and GOLGA2.
Notes
References
Further reading
External links
Molecular models of GRASP65/GM130/P115-mediated cis-cisternae membrane stacking and |
https://en.wikipedia.org/wiki/Carbonic%20anhydrase%2012 | Carbonic anhydrase 12 is an enzyme that in humans is encoded by the CA12 gene.
Function
Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Two transcript variants encoding different isoforms have been identified for this gene.
Pathology
Loss of function mutations in the CAXII gene result in defects in fluids and carbonate secretions in the following diseases:
1) Cystic fibrosis-like syndrome with normal cystic fibrosis transmembrane conductance regulator (CFTR) protein levels
2) Pancreatitis
3) Sjögren's syndrome
4) Xerostomia or dry mouth syndrome
Molecular Basis of Cystic Fibrosis-like Syndrome
CAXII, with either the His121Gln or Glu143Lys mutation, localizes to basolateral membranes of polarized MDCK cells similar to the wild type enzyme, indicating no deleterious effect on subcellular location.
The Glu143Lys (E143K) loss-of-function variant of the CAXII gene is associated with a rare autosomal recessive condition named isolated hyperchlorhidrosis (carbonic anhydrase XII defic |
https://en.wikipedia.org/wiki/CACNB2 | Voltage-dependent L-type calcium channel subunit beta-2 is a protein that in humans is encoded by the CACNB2 gene.
Clinical significance
Mutation in the CACNB2 gene are associated with Brugada syndrome, autism, attention deficit-hyperactivity disorder (ADHD), bipolar disorder, major depressive disorder, and schizophrenia.
See also
Voltage-dependent calcium channel
References
Further reading
External links
GeneReviews/NIH/NCBI/UW entry on Brugada syndrome
Ion channels |
https://en.wikipedia.org/wiki/SPRR3 | Small proline-rich protein 3 is a protein that in humans is encoded by the SPRR3 gene, which is found within the epidermal differentiation complex (EDC).
References
Further reading |
https://en.wikipedia.org/wiki/STAU1 | Double-stranded RNA-binding protein Staufen homolog 1 is a protein that in humans is encoded by the STAU1 gene.
Staufen is a member of the family of double-stranded RNA (dsRNA)-binding proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or organelles. These proteins are characterized by the presence of multiple dsRNA-binding domains which are required to bind RNAs having double-stranded secondary structures. The human homologue of staufen encoded by STAU, in addition contains a microtubule-binding domain similar to that of microtubule-associated protein 1B, and binds tubulin. The STAU gene product has been shown to be present in the cytoplasm in association with the rough endoplasmic reticulum (RER), implicating this protein in the transport of mRNA via the microtubule network to the RER, the site of translation. Five transcript variants resulting from alternative splicing of STAU gene and encoding three isoforms have been described. Three of these variants encode the same isoform, however, differ in their 5'UTR.
STAU1 is associated with stress granules.
Structure
Two orthologues of Staufen, Staufen1 (STAU1) and Staufen2 (STAU2) have distinct cellular functions. STAU1 is expressed in many cell types and tissues and STAU2 is expressed in the brain and heart. The expression of STAU1 has been associated with the disruption of cellular functions and the pathophysiology of neurodegenerative and neuromuscular disorders and c |
https://en.wikipedia.org/wiki/SUPT4H1 | Transcription elongation factor SPT4 is a protein that in humans is encoded by the SUPT4H1 gene.
References
Further reading |
https://en.wikipedia.org/wiki/TAF11 | Transcription initiation factor TFIID subunit 11 also known as TAFII28, is a protein that in humans is encoded by the TAF11 gene.
Function
Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a small subunit of TFIID that is present in all TFIID complexes and interacts with TBP. This subunit also interacts with another small subunit, TAF13, to form a heterodimer with a structure similar to the histone core structure.
In molecular biology, TAFII28 refers to the TATA box binding protein associated factor. Together with the TATA-binding protein and other TAFs it forms the general transcription factor, TFIID. They together participate in the assembly of the transcription preinitiation complex. The conserved region is found at the C terminus of most member proteins.
Structure
The cryst |
https://en.wikipedia.org/wiki/TRG%20%28gene%29 | T cell receptor gamma locus is a protein that in humans is encoded by the TRG gene, also known as TCRG or TRG@. It contributes the gamma (γ) chain to the larger TCR protein (T-cell receptor).
Function
T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC) (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor gamma locus. The gamma locus includes V (variable), J (joining), and C (constant) segments. During T cell development, the gamma chain is synthesized by a recombination event at the DNA level joining a V segment with a J segment; the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random addition of nucleotides by terminal deoxynucleotidyl transferase. Several V segments of the gamma locus are known to be incapable of encodin |
https://en.wikipedia.org/wiki/Trophinin | Trophinin is a protein that in humans is encoded by the TRO gene.
This gene encodes a membrane protein that mediates apical cell adhesion between trophoblastic cells and luminal epithelial cells of the endometrium and is implicated in the initial attachment during the process of embryo implantation. This gene is related to the MAGED gene family by sequence similarity and chromosome location. Multiple alternatively spliced transcript variants have been found for this gene; however, the full-length nature of some variants has not been defined.
References
Further reading |
https://en.wikipedia.org/wiki/WHSC1 | Probable histone-lysine N-methyltransferase NSD2 is an enzyme that in humans is encoded by the NSD2 gene.
This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development.
Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas.
Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences.
References
Further reading |
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