Terminology Service for NFDI4Health
All terms in UNIPROT
| Label | Id | Description |
|---|---|---|
| Phosphoinositide 3-kinase regulatory subunit 4 | Q8VD65 | [Function: Regulatory subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and cytokinesis, probably in the context of PI3KC3-C2 (By similarity).] |
| Three prime repair exonuclease 2 | Q9R1A9 | [Function: Exonuclease with a preference for double-stranded DNA with mismatched 3' termini. May play a role in DNA repair.] |
| (Lyso)-N-acylphosphatidylethanolamine lipase | Q8VD66 | [Function: Lysophospholipase selective for N-acyl phosphatidylethanolamine (NAPE). Contributes to the biosynthesis of N-acyl ethanolamines, including the endocannabinoid anandamide by hydrolyzing the sn-1 and sn-2 acyl chains from N-acyl phosphatidylethanolamine (NAPE) generating glycerophospho-N-acyl ethanolamine (GP-NAE), an intermediate for N-acyl ethanolamine biosynthesis (PubMed:16818490, PubMed:25853435). Hydrolyzes substrates bearing saturated, monounsaturated, polyunsaturated N-acyl chains (PubMed:16818490, PubMed:25853435). Shows no significant activity towards other lysophospholipids, including lysophosphatidylcholine, lysophosphatidylethanolamine and lysophosphatidylserine (PubMed:16818490).] |
| Carboxylesterase 3B | Q8VCU1 | [Function: Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs.] |
| Protein angel homolog 1 | Q8VCU0 | |
| Testis-specific Y-encoded-like protein 4 | Q8VD63 | |
| UPF0696 protein C11orf68 homolog | Q8VD62 | |
| Polyprenol reductase | Q5RJM1 | [Function: Plays a key role in early steps of protein N-linked glycosylation by being required for the conversion of polyprenol into dolichol. Dolichols are required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-glycosylation. Acts as a polyprenol reductase that promotes the reduction of the alpha-isoprene unit of polyprenols into dolichols in a NADP-dependent mechanism. Also able to convert testosterone (T) into 5-alpha-dihydrotestosterone (DHT).] |
| MKI67 FHA domain-interacting nucleolar phosphoprotein | Q5RJM0 | |
| Scavenger receptor class B member 1 | P97943 | [Function: Receptor for different ligands such as phospholipids, cholesterol ester, lipoproteins, phosphatidylserine and apoptotic cells. Receptor for HDL, mediating selective uptake of cholesteryl ether and HDL-dependent cholesterol efflux. Also facilitates the flux of free and esterified cholesterol between the cell surface and apoB-containing lipoproteins and modified lipoproteins, although less efficiently than HDL. May be involved in the phagocytosis of apoptotic cells, via its phosphatidylserine binding activity.] |
| Vascular endothelial growth factor D | P97946 | [Function: Growth factor active in angiogenesis, lymphangiogenesis and endothelial cell growth, stimulating their proliferation and migration and also has effects on the permeability of blood vessels. May function in the formation of the venous and lymphatic vascular systems during embryogenesis, and also in the maintenance of differentiated lymphatic endothelium in adults. Binds and activates VEGFR-3 (Flt4) receptor.] |
| Nuclear receptor subfamily 0 group B member 2 | P97947 | [Function: Transcriptional regulator that acts as a negative regulator of receptor-dependent signaling pathways (By similarity). Specifically inhibits transactivation of the nuclear receptor with which it interacts (By similarity). Inhibits transcriptional activity of NEUROD1 on E-box-containing promoter by interfering with the coactivation function of the p300/CBP-mediated transcription complex for NEUROD1 (By similarity). Essential component of the liver circadian clock which via its interaction with NR1D1 and RORG regulates NPAS2-mediated hepatic lipid metabolism (By similarity). Regulates the circadian expression of cytochrome P450 (CYP) enzymes (By similarity). Represses: NR5A2 and HNF4A to down-regulate CYP2C38, NFLI3 to up-regulate CYP2A5, BHLHE41/HNF1A axis to up-regulate CYP1A2, CYP2E1 and CYP3A11, and NR1D1 to up-regulate CYP2B10, CYP4A10 and CYP4A14 (By similarity).] |
| Mitochondrial import inner membrane translocase subunit Tim10 B | Q9R1B1 | [Function: Component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. The TIM22 complex forms a twin-pore translocase that uses the membrane potential as the external driving force. In the TIM22 complex, it may act as a docking point for the soluble 70 kDa complex that guides the target proteins in transit through the aqueous mitochondrial intermembrane space.] |
| GRB10-interacting GYF protein 2 | Q6Y7W6 | [Function: Key component of the 4EHP-GYF2 complex, a multiprotein complex that acts as a repressor of translation initiation (PubMed:22751931). In 4EHP-GYF2 the complex, acts as a factor that bridges EIF4E2 to ZFP36/TTP, linking translation repression with mRNA decay (By similarity). May act cooperatively with GRB10 to regulate tyrosine kinase receptor signaling, including IGF1 and insulin receptors (PubMed:12771153).] |
| Rho guanine nucleotide exchange factor 38 | Q80VK6 | [Function: May act as a guanine-nucleotide releasing factor.] |
| Slit homolog 2 protein | Q9R1B9 | [Function: Thought to act as molecular guidance cue in cellular migration, and function appears to be mediated by interaction with roundabout homolog receptors. During neural development involved in axonal navigation at the ventral midline of the neural tube and projection of axons to different regions. SLIT1 and SLIT2 seem to be essential for midline guidance in the forebrain by acting as repulsive signal preventing inappropriate midline crossing by axons projecting from the olfactory bulb. In spinal chord development, may play a role in guiding commissural axons once they reached the floor plate by modulating the response to netrin. In vitro, silences the attractive effect of NTN1 but not its growth-stimulatory effect and silencing requires the formation of a ROBO1-DCC complex. May be implicated in spinal chord midline post-crossing axon repulsion. In vitro, only commissural axons that crossed the midline responded to SLIT2. In the developing visual system, appears to function as repellent for retinal ganglion axons by providing a repulsion that directs these axons along their appropriate paths prior to, and after passage through, the optic chiasm. In vitro, collapses and repels retinal ganglion cell growth cones. Seems to play a role in branching and arborization of CNS sensory axons, and in neuronal cell migration. In vitro, Slit homolog 2 protein N-product, but not Slit homolog 2 protein C-product, repels olfactory bulb (OB) but not dorsal root ganglia (DRG) axons, induces OB growth cones collapse and induces branching of DRG axons. Seems to be involved in regulating leukocyte migration (By similarity).] |
| GRB10-interacting GYF protein 2 | Q6Y7W8 | [Function: Key component of the 4EHP-GYF2 complex, a multiprotein complex that acts as a repressor of translation initiation (PubMed:26763119). In 4EHP-GYF2 the complex, acts as a factor that bridges EIF4E2 to ZFP36/TTP, linking translation repression with mRNA decay (PubMed:26763119). May act cooperatively with GRB10 to regulate tyrosine kinase receptor signaling, including IGF1 and insulin receptors (PubMed:12771153).] |
| General transcription factor IIH subunit 3 | Q8VD76 | [Function: Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription.] |
| Huntingtin-interacting protein 1 | Q8VD75 | [Function: Plays a role in clathrin-mediated endocytosis and trafficking (PubMed:11577110). Involved in regulating AMPA receptor trafficking in the central nervous system in an NMDA-dependent manner (PubMed:12839988, PubMed:17329427). Regulates presynaptic nerve terminal activity (PubMed:17928447). Enhances androgen receptor (AR)-mediated transcription (By similarity). May act as a proapoptotic protein that induces cell death by acting through the intrinsic apoptosis pathway (By similarity). Binds 3-phosphoinositides (via ENTH domain) (By similarity). May act through the ENTH domain to promote cell survival by stabilizing receptor tyrosine kinases following ligand-induced endocytosis (By similarity). May play a functional role in the cell filament networks (By similarity). May be required for differentiation, proliferation, and/or survival of somatic and germline progenitors (PubMed:11604514, PubMed:14998932, PubMed:16967501, PubMed:17928447).] |
| Beta-soluble NSF attachment protein | P85969 | [Function: Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus.] |