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USH1C | Usher syndrome 1C (autosomal recessive, severe); Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing (By similarity) (899 aa) | |||
CPA1 | carboxypeptidase A1 (pancreatic) (419 aa) | |||
CPB2 | carboxypeptidase B2 (plasma); Cleaves C-terminal arginine or lysine residues from biologically active peptides such as kinins or anaphylatoxins in the circulation thereby regulating their activities. Down- regulates fibrinolysis by removing C-terminal lysine residues from fibrin that has already been partially degraded by plasmin (423 aa) | |||
SGTA | small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha; Co-chaperone that binds directly to HSC70 and HSP70 and regulates their ATPase activity (313 aa) | |||
CPA2 | carboxypeptidase A2 (pancreatic) (419 aa) | |||
CPA4 | carboxypeptidase A4; Metalloprotease that could be involved in the histone hyperacetylation pathway (421 aa) | |||
LNX1 | ligand of numb-protein X 1, E3 ubiquitin protein ligase; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of NUMB. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates ubiquitination of isoform p66 and isoform p72 of NUMB, but not that of isoform p71 or isoform p65 (By similarity) (728 aa) | |||
CPO | carboxypeptidase O; Probable carboxypeptidase which may cleave proteins with C-terminal acidic residues (By similarity) (374 aa) | |||
CRIM1 | cysteine rich transmembrane BMP regulator 1 (chordin-like); May play a role in CNS development by interacting with growth factors implicated in motor neuron differentiation and survival. May play a role in capillary formation and maintenance during angiogenesis. Modulates BMP activity by affecting its processing and delivery to the cell surface (1036 aa) | |||
PDZD2 | PDZ domain containing 2 (2839 aa) | |||
CPB1 | carboxypeptidase B1 (tissue) (417 aa) | |||
GRASP | GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein; Plays a role in intracellular trafficking and contributes to the macromolecular organization of group 1 metabotropic glutamate receptors (mGluRs) at synapses (By similarity) (395 aa) | |||
CPA3 | carboxypeptidase A3 (mast cell) (417 aa) | |||
CPA6 | carboxypeptidase A6; May be involved in the proteolytic inactivation of enkephalins and neurotensin in some brain areas. May convert inactive angiotensin I into the biologically active angiotensin II (437 aa) | |||
IL16 | interleukin 16; Interleukin-16 stimulates a migratory response in CD4+ lymphocytes, monocytes, and eosinophils. Primes CD4+ T-cells for IL-2 and IL-15 responsiveness. Also induces T-lymphocyte expression of interleukin 2 receptor. Ligand for CD4 (1332 aa) | |||
VWCE | von Willebrand factor C and EGF domains; May be a regulatory element in the beta-catenin signaling pathway and a target for chemoprevention of hapatocellular carcinoma (955 aa) | |||
CPA5 | carboxypeptidase A5 (436 aa) | |||
PARD3B | par-3 partitioning defective 3 homolog B (C. elegans); Putative adapter protein involved in asymmetrical cell division and cell polarization processes. May play a role in the formation of epithelial tight junctions (1143 aa) | |||
NEURL | neuralized homolog (Drosophila); May function as an E3 ubiquitin-protein ligase to activate monoubiquitination of JAG1, thereby regulating the Notch pathway (By similarity) (574 aa) | |||
INADL | InaD-like (Drosophila) (1801 aa) | |||
DLG5 | discs, large homolog 5 (Drosophila) (1919 aa) | |||
FRMPD2 | FERM and PDZ domain containing 2; May play a role in the regulation of tight junction formation. Binds phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) (1309 aa) | |||
SGTB | small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta; Co-chaperone that binds directly to HSC70 and HSP70 and regulates their ATPase activity (By similarity) (304 aa) | |||
MPDZ | multiple PDZ domain protein (2041 aa) | |||
GRIP1 | glutamate receptor interacting protein 1; May play a role as a localized scaffold for the assembly of a multiprotein signaling complex and as mediator of the trafficking of its binding partners at specific subcellular location in neurons (1076 aa) | |||
GRID2IP | glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein; Postsynaptic scaffolding protein at the parallel fiber- Purkinje cell synapse, where it may serve to link GRID2 with actin cytoskeleton and various signaling molecules (By similarity) (1211 aa) |