Terminology Service < Semantic Lookup Platform

All terms in UNIPROT

Label	Id	Description
PDZ domain-containing protein GIPC3	Q8R5M0	[Function: Required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion.]
Protein TASOR	Q69ZR9	[Function: Component of the HUSH complex, a multiprotein complex that mediates epigenetic repression. The HUSH complex is recruited to genomic loci rich in H3K9me3 and is required to maintain transcriptional silencing by promoting recruitment of SETDB1, a histone methyltransferase that mediates further deposition of H3K9me3, as well as MORC2. Also represses L1 retrotransposons in collaboration with MORC2 and, probably, SETDB1, the silencing is dependent of repressive epigenetic modifications, such as H3K9me3 mark. Silencing events often occur within introns of transcriptionally active genes, and lead to the down-regulation of host gene expression. The HUSH complex is also involved in the silencing of unintegrated retroviral DNA by being recruited by ZNF638: some part of the retroviral DNA formed immediately after infection remains unintegrated in the host genome and is transcriptionally repressed.]
Lymphocyte antigen 6L	H3BQJ8
THUMP domain-containing protein 3	P97770
Pre-mRNA-splicing factor 38B	Q5VTL8	[Function: May be required for pre-mRNA splicing.]
Fibronectin type III domain-containing protein 7	Q5VTL7
Metabotropic glutamate receptor 1	P97772	[Function: G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling activates a phosphatidylinositol-calcium second messenger system. May participate in the central action of glutamate in the CNS, such as long-term potentiation in the hippocampus and long-term depression in the cerebellum (By. similarity). May function in the light response in the retina (PubMed:26427409).]
Protein BEX6	Q3TZW7
Chloride intracellular channel protein 6	Q8BHB9	[Function: May insert into membranes and form chloride ion channels. May play a critical role in water-secreting cells, possibly through the regulation of chloride ion transport (By similarity).]
Disintegrin and metalloproteinase domain-containing protein 18	P97776	[Function: Sperm surface membrane protein that may be involved in spermatogenesis and fertilization. This is a non catalytic metalloprotease-like protein (By similarity).]
Small G protein signaling modulator 2	Q80U12	[Function: Possesses GTPase activator activity towards RAB32, RAB33B and RAB38. Regulates the trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes by inactivating RAB32 and RAB38. Inhibits RAB32 and RAB38 activation both directly by promoting their GTPase activity and indirectly by disrupting the RAB9A-HPS4 interaction which is required for RAB32/38 activation (PubMed:26620560).]
E3 ubiquitin-protein ligase UBR5	Q80TP3	[Function: E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Ubiquitinates acetylated PCK1. Also acts as a regulator of DNA damage response by acting as a suppressor of RNF168, an E3 ubiquitin-protein ligase that promotes accumulation of 'Lys-63'-linked histone H2A and H2AX at DNA damage sites, thereby acting as a guard against excessive spreading of ubiquitinated chromatin at damaged chromosomes (By similarity). Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. Involved in maturation and/or transcriptional regulation of mRNA by activating CDK9 by polyubiquitination. May play a role in control of cell cycle progression. May have tumor suppressor function. Plays an essential role in extraembryonic development. Regulates DNA topoisomerase II binding protein (TopBP1) for the DNA damage response.]
E3 ubiquitin-protein ligase HECTD1	Q69ZR2	[Function: E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates (PubMed:22431752). Mediates 'Lys-63'-linked polyubiquitination of HSP90AA1 which leads to its intracellular localization and reduced secretion (PubMed:22431752). Negatively regulating HSP90AA1 secretion in cranial mesenchyme cells impairs their emigration and is consequently essential for the correct development of the cranial neural folds and neural tube closure (PubMed:17442300, PubMed:22431752).]
WD repeat-containing protein 3	Q8BHB4
Endothelial cell-specific chemotaxis regulator	Q3TZW0	[Function: Regulates endothelial chemotaxis and tube formation (By similarity). Has a role in angiogenesis and apoptosis via modulation of the actin cytoskeleton and facilitation of proteasomal degradation of the apoptosis inhibitors BIRC3/IAP1 and BIRC2/IAP2.]
Hyaluronan-mediated motility receptor	P97779	[Function: Receptor for hyaluronic acid (HA) (By similarity). Involved in cell motility (By similarity). When hyaluronan binds to HMMR, the phosphorylation of a number of proteins, including the PTK2/FAK1 occurs. May also be involved in cellular transformation and metastasis formation, and in regulating extracellular-regulated kinase (ERK) activity (By similarity). May act as a regulator of adipogenisis (By similarity).]
Sex-determining region Y protein	Q05066	[Function: Transcriptional regulator that controls a genetic switch in male development. It is necessary and sufficient for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (By similarity). In male adult brain involved in the maintenance of motor functions of dopaminergic neurons (By similarity). Involved in different aspects of gene regulation including promoter activation or repression (By similarity). Promotes DNA bending. SRY HMG box recognizes DNA by partial intercalation in the minor groove. Also involved in pre-mRNA splicing. Binds to the DNA consensus sequence 5'-[AT]AACAA[AT]-3'.]
Uncharacterized protein C16orf46 homolog	Q8BHB7
Ras-related protein Rab-39B	Q8BHC1	[Function: Small GTPases Rab involved in autophagy. The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (By similarity). May be involved in vesicular trafficking (PubMed:20159109). Plays a role in synapse formation. May regulate the homeostasis of SNCA/alpha-synuclein (PubMed:25434005). Together with PICK1 proposed to ensure selectively GRIA2 exit from the endoplasmic reticulum to the Golgi and to regulate AMPAR compostion at the post-synapses and thus synaptic transmission (PubMed:25784538).]
Disheveled-associated activator of morphogenesis 2	Q80U19	[Function: Key regulator of the Wnt signaling pathway, which is required for various processes during development, such as dorsal patterning, determination of left/right symmetry or myelination in the central nervous system (PubMed:22227309, PubMed:24091014, PubMed:25754822). Acts downstream of Wnt ligands and upstream of beta-catenin (CTNNB1) (PubMed:22227309, PubMed:25754822). Required for canonical Wnt signaling pathway during patterning in the dorsal spinal cord by promoting the aggregation of Disheveled (Dvl) complexes, thereby clustering and formation of Wnt receptor signalosomes and potentiating Wnt activity (PubMed:22227309). During dorsal patterning of the spinal cord, inhibits oligodendrocytes differentiation via interaction with PIP5K1A (PubMed:25754822). Also regulates non-canonical Wnt signaling pathway (PubMed:24091014). Acts downstream of PITX2 in the developing gut and is required for left/right asymmetry within dorsal mesentery: affects mesenchymal condensation by lengthening cadherin-based junctions through WNT5A and non-canonical Wnt signaling, inducing polarized condensation in the left dorsal mesentery necessary to initiate gut rotation (PubMed:24091014). Together with DAAM1, required for myocardial maturation and sarcomere assembly (PubMed:26526197).]