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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) | |||
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) | |||
SNAI1 | snail homolog 1 (Drosophila); Involved in induction of the epithelial to mesenchymal transition (EMT), formation and maintenance of embryonic mesoderm, growth arrest, survival and cell migration. Binds to 3 E-boxes of the E-cadherin/CDH1 gene promoter and to the promoters of CLDN7 and KRT8 and, in association with histone demethylase KDM1A which it recruits to the promoters, causes a decrease in dimethylated H3K4 levels and represses transcription. Associates with EGR1 and SP1 to mediate tetradecanoyl phorbol acetate (TPA)-induced up- regulation of CDKN2B, possibly by binding to the CD [...] (264 aa) | |||
SCRT2 | scratch homolog 2, zinc finger protein (Drosophila); May be involved in transcriptional regulation (307 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) | |||
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) | |||
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) | |||
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) | |||
SNAI3 | snail homolog 3 (Drosophila); Seems to inhibit myoblast differentiation. Transcriptional repressor of E-box-dependent transactivation of downstream myogenic bHLHs genes. Binds preferentially to the canonical E-box sequences 5’-CAGGTG-3’ and 5’-CACCTG-3’ (By similarity) (292 aa) | |||
SCRT1 | scratch homolog 1, zinc finger protein (Drosophila); Transcriptional repressor that binds E-box motif CAGGTG. Can modulate the action of basic helix-loop-helix (bHLH) transcription factors, critical for neuronal differentiation (348 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) | |||
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) | |||
GOPC | golgi-associated PDZ and coiled-coil motif containing; Plays a role in intracellular protein trafficking and degradation. May regulate CFTR chloride currents and acid-induced ASIC3 currents by modulating cell surface expression of both channels. May also regulate the intracellular trafficking of the ADR1B receptor. May play a role in autophagy. Overexpression results in CFTR intracellular retention and degradation in the lysosomes (462 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) | |||
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) | |||
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) |