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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) | |||
HGF | hepatocyte growth factor (hepapoietin A; scatter factor) (728 aa) | |||
LFNG | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase; Glycosyltransferase that initiates the elongation of O- linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Decreases the binding of JAGGED1 to NOTCH2 but not that of DELTA1. Essential mediator of somite segmentation and patterning (By similarity) (379 aa) | |||
DCLK1 | doublecortin-like kinase 1; Probable kinase that may be involved in a calcium- signaling pathway controlling neuronal migration in the developing brain. May also participate in functions of the mature nervous system (729 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) | |||
KLKB1 | kallikrein B, plasma (Fletcher factor) 1; The enzyme cleaves Lys-Arg and Arg-Ser bonds. It activates, in a reciprocal reaction, factor XII after its binding to a negatively charged surface. It also releases bradykinin from HMW kininogen and may also play a role in the renin-angiotensin system by converting prorenin into renin (638 aa) | |||
PDZD2 | PDZ domain containing 2 (2839 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) | |||
SPINT2 | serine peptidase inhibitor, Kunitz type, 2; Inhibitor of HGF activator. Also inhibits plasmin, plasma and tissue kallikrein, and factor XIa (252 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) | |||
F2 | coagulation factor II (thrombin); Thrombin, which cleaves bonds after Arg and Lys, converts fibrinogen to fibrin and activates factors V, VII, VIII, XIII, and, in complex with thrombomodulin, protein C. Functions in blood homeostasis, inflammation and wound healing (622 aa) | |||
MET | met proto-oncogene (hepatocyte growth factor receptor); Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to hepatocyte growth factor/HGF ligand. Regulates many physiological processes including proliferation, scattering, morphogenesis and survival. Ligand binding at the cell surface induces autophosphorylation of MET on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with the PI3-kinase subunit PIK3R1, PLCG1, SRC, GRB2, STAT3 or the adapter GAB1 [...] (1408 aa) | |||
SPINT1 | serine peptidase inhibitor, Kunitz type 1; Inhibitor of HGF activator. Also acts as an inhibitor of matriptase (ST14) (529 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) | |||
DLL1 | delta-like 1 (Drosophila); Acts as a ligand for Notch receptors. Blocks the differentiation of progenitor cells into the B-cell lineage while promoting the emergence of a population of cells with the characteristics of a T-cell/NK-cell precursor (723 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) | |||
NEURL1B | neuralized homolog 1B (Drosophila); E3 ubiquitin-protein ligase involved in regulation of the Notch pathway through influencing the stability and activity of several Notch ligands (555 aa) | |||
INADL | InaD-like (Drosophila) (1801 aa) | |||
RAE1 | RAE1 RNA export 1 homolog (S. pombe); Binds mRNA. May function in nucleocytoplasmic transport and in directly or indirectly attaching cytoplasmic mRNPs to the cytoskeleton (368 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) | |||
CASK | calcium/calmodulin-dependent serine protein kinase (MAGUK family) (921 aa) | |||
MPDZ | multiple PDZ domain protein (2041 aa) | |||
HGFAC | HGF activator; Activates hepatocyte growth factor (HGF) by converting it from a single chain to a heterodimeric form (655 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) |