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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) | |||
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) | |||
PDZD2 | PDZ domain containing 2 (2839 aa) | |||
LRGUK | leucine-rich repeats and guanylate kinase domain containing (825 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) | |||
RFNG | RFNG 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. May be involved in limb formation and in neurogenesis (By similarity) (331 aa) | |||
FBLN7 | fibulin 7; An adhesion molecule that interacts with extracellular matrix molecules in developing teeth and may play important roles in differentiation and maintenance of odontoblasts as well as in dentin formation (By similarity) (439 aa) | |||
MPP7 | membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7); Acts as an important adapter that promotes epithelial cell polarity and tight junction formation via its interaction with DLG1. Involved in the assembly of protein complexes at sites of cell-cell contact (576 aa) | |||
MFNG | MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase; Glycosyltransferase involved in the elongation of O- linked ligands to activate Notch signaling. Possesses fucose- specific beta-1,3-N-acetylglucosaminyltransferase activity (321 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) | |||
MPP1 | membrane protein, palmitoylated 1, 55kDa; Essential regulator of neutrophil polarity. Regulates neutrophil polarization by regulating AKT1 phosphorylation through a mechanism that is independent of PIK3CG activity (By similarity) (466 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) | |||
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) | |||
MPP3 | membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) (585 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) |