Terminology Service < Semantic Lookup Platform

All terms in UNIPROT

Label	Id	Description
Dephospho-CoA kinase domain-containing protein	Q8BHC4
Rho family-interacting cell polarization regulator 2	Q80U16	[Function: Acts as an inhibitor of the small GTPase RHOA and plays several roles in the regulation of myoblast and hair cell differentiation, lymphocyte T proliferation and neutrophil polarization (PubMed:25588844, PubMed:27269051). Plays a role in fetal mononuclear myoblast differentiation by promoting filopodia and myotube formation (PubMed:17150207). Maintains naive T lymphocytes in a quiescent state and prevents chemokine-induced T lymphocyte responses, such as cell adhesion, polarization and migration (By similarity). Involved also in the regulation of neutrophil polarization, chemotaxis and adhesion (PubMed:25588844). Required for normal development of inner and outer hair cell stereocilia within the cochlea of the inner ear (PubMed:27269051). Plays a role for maintaining the structural organization of the basal domain of stereocilia (PubMed:27269051). Involved in mechanosensory hair cell function (PubMed:27269051). Required for normal hearing (PubMed:27269051).]
Protein FAM170A	A1A519	[Function: Acts as a nuclear transcription factor that positively regulates the expression of heat shock genes. Binds to heat shock promoter elements (HSE).]
Lymphatic vessel endothelial hyaluronic acid receptor 1	Q8BHC0	[Function: Ligand-specific transporter trafficking between intracellular organelles (TGN) and the plasma membrane. Plays a role in autocrine regulation of cell growth mediated by growth regulators containing cell surface retention sequence binding (CRS). May act as a hyaluronan (HA) transporter, either mediating its uptake for catabolism within lymphatic endothelial cells themselves, or its transport into the lumen of afferent lymphatic vessels for subsequent re-uptake and degradation in lymph nodes.]
Protein myomixer	Q2Q5T5	[Function: Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers (PubMed:28386024, PubMed:28569745, PubMed:28569755, PubMed:30197239). Involved in membrane fusion downstream of the lipid mixing step mediated by MYMK (PubMed:30197239). Acts by generating membrane stresses via its extracellular C-terminus, leading to drive fusion pore formation (PubMed:30197239). Acts independently of MYMK (PubMed:30197239). Involved in skeletal muscle regeneration in response to injury by mediating the fusion of satellite cells, a population of muscle stem cells, with injured myofibers (PubMed:29581287).]
Putative testis-expressed protein 13C	A0A0J9YWL9
Zinc finger CCHC domain-containing protein 10	Q5EB97
Pre-mRNA-splicing factor ISY1 homolog	Q69ZQ2	[Function: Component of the spliceosome C complex required for the selective processing of microRNAs (miRNAs) during embryonic stem cell differentiation (PubMed:26255770, PubMed:29804889). Required for the biogenesis of all miRNAs from the pri-miR-17-92 primary transcript except miR-92a (PubMed:26255770). Only required for the biogenesis of miR-290 and miR-96 from the pri-miR-290-295 and pri-miR-96-183 primary transcripts, respectively (PubMed:29804889). Required during the transition of embryonic stem cells (ESCs) from the naive to primed state (PubMed:29804889). By enhancing miRNA biogenesis, promotes exit of ESCs from the naive state to an intermediate state of poised pluripotency, which precedes the transition to the primed state (PubMed:29804889). Involved in pre-mRNA splicing as component of the spliceosome.]
Alpha-(1,3)-fucosyltransferase 11	Q8BHC9	[Function: Probable fucosyltransferase.]
Trefoil factor 3	Q07654	[Function: Involved in the maintenance and repair of the intestinal mucosa. Promotes the mobility of epithelial cells in healing processes (motogen).]
Ubiquitin carboxyl-terminal hydrolase CYLD	Q80TQ2	[Function: Deubiquitinase that specifically cleaves 'Lys-63'- and linear 'Met-1'-linked polyubiquitin chains and is involved in NF-kappa-B activation and TNF-alpha-induced necroptosis (PubMed:17548520, PubMed:28701375, PubMed:29291351). Plays an important role in the regulation of pathways leading to NF-kappa-B activation (PubMed:16713561). Contributes to the regulation of cell survival, proliferation and differentiation via its effects on NF-kappa-B activation (PubMed:16713561). Negative regulator of Wnt signaling. Inhibits HDAC6 and thereby promotes acetylation of alpha-tubulin and stabilization of microtubules (PubMed:19893491). Plays a role in the regulation of microtubule dynamics, and thereby contributes to the regulation of cell proliferation, cell polarization, cell migration, and angiogenesis (PubMed:16713561, PubMed:20194890, PubMed:19893491). Required for normal cell cycle progress and normal cytokinesis (PubMed:19893491). Inhibits nuclear translocation of NF-kappa-B (By similarity). Plays a role in the regulation of inflammation and the innate immune response, via its effects on NF-kappa-B activation (By similarity). Dispensable for the maturation of intrathymic natural killer cells, but required for the continued survival of immature natural killer cells (PubMed:16501569, PubMed:18643924). Negatively regulates TNFRSF11A signaling and osteoclastogenesis (PubMed:18382763). Involved in the regulation of ciliogenesis, allowing ciliary basal bodies to migrate and dock to the plasma membrane; this process does not depend on NF-kappa-B activation (PubMed:25134987). Ability to remove linear ('Met-1'-linked) polyubiquitin chains regulates innate immunity and TNF-alpha-induced necroptosis: recruited to the LUBAC complex via interaction with SPATA2 and restricts linear polyubiquitin formation on target proteins (PubMed:28701375). Regulates innate immunity by restricting linear polyubiquitin formation on RIPK2 in response to NOD2 stimulation (By similarity). Involved in TNF-alpha-induced necroptosis by removing linear ('Met-1'-linked) polyubiquitin chains from RIPK1, thereby regulating the kinase activity of RIPK1 (PubMed:28701375). Removes 'Lys-63' linked polyubiquitin chain of MAP3K7, which inhibits phosphorylation and blocks downstream activation of the JNK-p38 kinase cascades (PubMed:17548520, PubMed:29291351).]
Iporin	Q80U22
Syntaphilin	Q80U23	[Function: Inhibits SNARE complex formation by absorbing free syntaxin-1.]
Voltage-dependent R-type calcium channel subunit alpha-1E	Q07652	[Function: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1E gives rise to R-type calcium currents. R-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blocked by nickel. They are however insensitive to dihydropyridines (DHP). Calcium channels containing alpha-1E subunit could be involved in the modulation of firing patterns of neurons which is important for information processing.]
Myogenesis-regulating glycosidase	Q69ZQ1	[Function: Putative glycosidase. Promotes myogenesis by activating AKT signaling through the maturation and secretion of IGF2 (PubMed:19706595).]
Rhomboid-related protein 4	Q8BHC7	[Function: Intramembrane-cleaving serine protease that cleaves single transmembrane or multi-pass membrane proteins in the hydrophobic plane of the membrane, luminal loops and juxtamembrane regions. Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors. Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded membrane proteins. Required for the degradation process of some specific misfolded endoplasmic reticulum (ER) luminal proteins. Participates in the transfer of misfolded proteins from the ER to the cytosol, where they are destroyed by the proteasome in a ubiquitin-dependent manner. Functions in BIK, MPZ, PKD1, PTCRA, RHO, STEAP3 and TRAC processing. Involved in the regulation of exosomal secretion; inhibits the TSAP6-mediated secretion pathway. Involved in the regulation of apoptosis; modulates BIK-mediated apoptotic activity. Also plays a role in the regulation of spermatogenesis; inhibits apoptotic activity in spermatogonia.]
FERM domain-containing protein 3	Q8BHD4	[Function: Putative tumor suppressor gene that may be implicated in the origin and progression of lung cancer.]
Pleckstrin homology domain-containing family M member 2	Q80TQ5	[Function: May play a role in the regulation of conventional kinesin activity. Required for maintenance of the Golgi apparatus organization. May play a role in membrane tubulation. May play a role in lysosomes movement and localization at the cell periphery.]
Solute carrier family 2, facilitated glucose transporter member 3	Q07647	[Function: Facilitative glucose transporter that can also mediate the uptake of various other monosaccharides across the cell membrane. Mediates the uptake of glucose, 2-deoxyglucose, galactose, mannose, xylose and fucose, and probably also dehydroascorbate. Does not mediate fructose transport.]
Ras-related protein Rab-39A	Q8BHD0	[Function: Plays a role in the maturation and acidification of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays a role in vesicular trafficking. Plays a role in the fusion of phagosomes with lysosomes. Negatively regulates LPS-induced autophagosome formation in macrophages possibly by implicating PI3K (By similarity). May be involved in multiple neurite formation (PubMed:23624502).]