Terminology Service < Semantic Lookup Platform

All terms in UNIPROT

Label	Id	Description
Inversin	O89019	[Function: Required for normal renal development and establishment of left-right axis. Probably acts as a molecular switch between different Wnt signaling pathways. Inhibits the canonical Wnt pathway by targeting cytoplasmic disheveled (DVL1) for degradation by the ubiquitin-proteasome. This suggests that it is required in renal development to oppose the repression of terminal differentiation of tubular epithelial cells by Wnt signaling (By similarity). Involved in the organization of apical junctions in kidney cells together with NPHP1, NPHP4 and RPGRIP1L/NPHP8. Does not seem to be strictly required for ciliogenesis.]
Leucine-rich repeat transmembrane neuronal protein 1	D4A6D8	[Function: Exhibits strong synaptogenic activity, restricted to excitatory presynaptic differentiation, acting at both pre- and postsynaptic level.]
Tetratricopeptide repeat protein 19, mitochondrial	D4A6D7	[Function: Required for the preservation of the structural and functional integrity of mitochondrial respiratory complex III by allowing the physiological turnover of the Rieske protein UQCRFS1. Involved in the clearance of UQCRFS1 N-terminal fragments, which are produced upon incorporation into the complex III and whose presence is detrimental for its catalytic activity.]
Legumain	O89017	[Function: Has a strict specificity for hydrolysis of asparaginyl bonds. Can also cleave aspartyl bonds slowly, especially under acidic conditions. May be involved in the processing of proteins for MHC class II antigen presentation in the lysosomal/endosomal system. Required for normal lysosomal protein degradation in renal proximal tubules. Required for normal degradation of internalized EGFR. Plays a role in the regulation of cell proliferation via its role in EGFR degradation.]
ATP-binding cassette sub-family D member 4	O89016	[Function: May be involved in intracellular processing of vitamin B12 (cobalamin). Could play a role in the lysosomal release of vitamin B12 into the cytoplasm (By similarity).]
Leptin receptor gene-related protein	O89013	[Function: Negatively regulates leptin receptor (LEPR) cell surface expression, and thus decreases response to leptin. Negatively regulates growth hormone (GH) receptor cell surface expression in liver. May play a role in liver resistance to GH during periods of reduced nutrient availability.]
AP-4 complex accessory subunit Tepsin	Q3U3N6	[Function: Associates with the adapter-like complex 4 (AP-4) and may therefore play a role in vesicular trafficking of proteins at the trans-Golgi network.]
Zinc finger protein 80	P51504	[Function: May be involved in transcriptional regulation.]
Mesoderm induction early response protein 2	Q3U3N0	[Function: Transcriptional repressor.]
Uncharacterized protein C15orf39	Q6ZRI6
Syntaxin-12	G3V7P1	[Function: SNARE that acts to regulate protein transport between endosomes and the trans-Golgi network (By similarity). The SNARE complex containing STX6, STX12, VAMP4 and VTI1A mediates vesicle fusion (in vitro). Through complex formation with GRIP1, GRIA2 and NSG1 controls the intracellular fate of AMPAR and the endosomal sorting of the GRIA2 subunit toward recycling and membrane targeting (PubMed:16037816).]
Putative protein FAM90A5P	A8MXJ8
Matrilin-4	O89029	[Function: Major component of the extracellular matrix of cartilage.]
Zinc finger protein 81	P51508	[Function: May be involved in transcriptional regulation.]
Rho GTPase-activating protein 36	Q6ZRI8	[Function: GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.]
Roundabout homolog 1	O89026	[Function: Receptor for SLIT1 and SLIT2 that mediates cellular responses to molecular guidance cues in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal development (PubMed:10433822, PubMed:24560577). Interaction with the intracellular domain of FLRT3 mediates axon attraction towards cells expressing NTN1 (PubMed:24560577). In axon growth cones, the silencing of the attractive effect of NTN1 by SLIT2 may require the formation of a ROBO1-DCC complex (By similarity). Plays a role in the regulation of cell migration via its interaction with MYO9B; inhibits MYO9B-mediated stimulation of RHOA GTPase activity, and thereby leads to increased levels of active, GTP-bound RHOA (By similarity). May be required for lung development (PubMed:11734623).]
Otogelin	Q6ZRI0	[Function: Glycoprotein specific to acellular membranes of the inner ear. May be required for the anchoring of the otoconial membranes and cupulae to the underlying neuroepithelia in the vestibule. May be involved in the organization and/or stabilization of the fibrillar network that compose the tectorial membrane in the cochlea. May play a role in mechanotransduction processes (By similarity).]
Tripeptidyl-peptidase 1	O89023	[Function: Lysosomal serine protease with tripeptidyl-peptidase I activity (PubMed:28464005). May act as a non-specific lysosomal peptidase which generates tripeptides from the breakdown products produced by lysosomal proteinases (By similarity). Requires substrates with an unsubstituted N-terminus (By similarity).]
Polypeptide N-acetylgalactosaminyltransferase 1	Q10472	[Function: Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has a broad spectrum of substrates for peptides such as EA2, Muc5AC, Muc1a, Muc1b and Muc7.]
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2	O89040	[Function: The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. This protein may be involved in the transduction of bitter taste stimuli.]