Terminology Service < Semantic Lookup Platform

All terms in UNIPROT

Label	Id	Description
POC1 centriolar protein homolog B	Q8BHD1	[Function: Plays an important role in centriole assembly and/or stability and ciliogenesis. Involved in early steps of centriole duplication, as well as in the later steps of centriole length control. Acts in concert with POC1A to ensure centriole integrity and proper mitotic spindle formation. Required for primary cilia formation, ciliary length and also cell proliferation. Required for retinal integrity.]
MAP kinase-activating death domain protein	Q80U28	[Function: Plays a significant role in regulating cell proliferation, survival and death through alternative mRNA splicing. Converts GDP-bound inactive form of RAB3A, RAB3C and RAB3D to the GTP-bound active forms. Component of the TNFRSF1A signaling complex: MADD links TNFRSF1A with MAP kinase activation. Plays an important regulatory role in physiological cell death (TNF-alpha-induced, caspase-mediated apoptosis).]
Mesoderm-specific transcript protein	Q07646
Mineralocorticoid receptor	P22199	[Function: Receptor for both mineralocorticoids (MC) such as aldosterone and glucocorticoids (GC) such as corticosterone or cortisol. Binds to mineralocorticoid response elements (MRE) and transactivates target genes. The effect of MC is to increase ion and water transport and thus raise extracellular fluid volume and blood pressure and lower potassium levels.]
Probable hydrolase PNKD	Q69ZP3	[Function: Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa-B signaling pathway.]
Keratin-associated protein 23-1	A1A580	[Function: In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.]
Kelch domain-containing protein 7A	Q5VTJ3
Mucin-17	Q685J3	[Function: Probably plays a role in maintaining homeostasis on mucosal surfaces.]
KH domain-containing, RNA-binding, signal transduction-associated protein 1	Q07666	[Function: Isoform 3, which is expressed in growth-arrested cells only, inhibits S phase.]
Slit homolog 1 protein	Q80TR4	[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 (By similarity). SLIT1 and SLIT2 together seem to be essential for midline guidance in the forebrain by acting as repulsive signal preventing inappropriate midline crossing by axons projecting from the olfactory bulb.]
Rho guanine nucleotide exchange factor 17	Q80U35	[Function: Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPases.]
Polypyrimidine tract-binding protein 3	Q8BHD7	[Function: RNA-binding protein that mediates pre-mRNA alternative splicing regulation. Plays a role in the regulation of cell proliferation, differentiation and migration. Positive regulator of EPO-dependent erythropoiesis. Participates in cell differentiation regulation by repressing tissue-specific exons. Promotes Fas exon 6 skipping. Binds RNA, preferentially to both poly(G) and poly(U) (By similarity).]
WD repeat and FYVE domain-containing protein 3	Q6VNB8	[Function: Required for selective macroautophagy (aggrephagy). Acts as an adapter protein by linking specific proteins destined for degradation to the core autophagic machinery members, such as the ATG5-ATG12-ATG16L E3-like ligase, SQSTM1 and LC3. Involved in the formation and autophagic degradation of cytoplasmic ubiquitin-containing inclusions (p62 bodies, ALIS/aggresome-like induced structures) (By similarity). Important for normal brain development (PubMed:25198012, PubMed:27648578). Essential for the formation of axonal tracts throughout the brain and spinal cord, including the formation of the major forebrain commissures. Involved in the ability of neural cells to respond to guidance cues. Required for cortical neurons to respond to the trophic effects of netrin-1/NTN1 (PubMed:27648578). Regulates Wnt signaling through the removal of DVL3 aggregates, likely in an autophagy-dependent manner. This process may be important for the determination of brain size during embryonic development (By similarity). May regulate osteoclastogenesis by acting on the TNFSF11/RANKL - TRAF6 pathway (PubMed:27330028). After cytokinetic abscission, involved in midbody remnant degradation. In vitro strongly binds to phosphatidylinositol 3-phosphate (PtdIns3P) (By similarity).]
Protein-L-isoaspartate O-methyltransferase domain-containing protein 2	Q8BHD8
Protein CLEC16A	Q80U30	[Function: Regulator of mitophagy through the upstream regulation of the RNF41/NRDP1-PRKN pathway. Mitophagy is a selective form of autophagy necessary for mitochondrial quality control. The RNF41/NRDP1-PRKN pathway regulates autophagosome-lysosome fusion during late mitophagy. May protect RNF41/NRDP1 from proteosomal degradation, RNF41/NRDP1 which regulates proteosomal degradation of PRKN. Plays a key role in beta cells functions by regulating mitophagy/autophagy and mitochondrial health.]
Adhesion G protein-coupled receptor L1	Q80TR1	[Function: Calcium-independent receptor of high affinity for alpha-latrotoxin, an excitatory neurotoxin present in black widow spider venom which triggers massive exocytosis from neurons and neuroendocrine cells. Receptor for TENM2 that mediates heterophilic synaptic cell-cell contact and postsynaptic specialization. Receptor probably implicated in the regulation of exocytosis (By similarity).]
Caytaxin	Q8BHE3	[Function: Functions in the development of neural tissues, particularly the postnatal maturation of the cerebellar cortex. May play a role in neurotransmission through regulation of glutaminase/GLS, an enzyme responsible for the production in neurons of the glutamate neurotransmitter. Alternatively, may regulate the localization of mitochondria within axons and dendrites.]
Transmembrane protein 108	Q8BHE4	[Function: Transmembrane protein required for proper cognitive functions. Involved in the development of dentate gyrus (DG) neuron circuitry, is necessary for AMPA receptors surface expression and proper excitatory postsynaptic currents of DG granule neurons (PubMed:28096412). Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Through the interaction with DST, mediates the docking of the dynein/dynactin motor complex to vesicle cargos for retrograde axonal transport (PubMed:17287360). In hippocampal neurons, required for BDNF-dependent dendrite outgrowth (PubMed:21849472). Cooperates with SH3GL2 and recruits the WAVE1 complex to facilitate actin-dependent BDNF:NTRK2 early endocytic trafficking and mediate signaling from early endosomes (PubMed:21849472, PubMed:27605705).]
Bone morphogenetic protein 3	Q8BHE5	[Function: Negatively regulates bone density. Antagonizes the ability of certain osteogenic BMPs to induce osteoprogenitor differentitation and ossification.]
Proline-rich protein 11	Q8BHE0	[Function: Plays a critical role in cell cycle progression.]