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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) | |||
DLL3 | delta-like 3 (Drosophila); Inhibits primary neurogenesis. May be required to divert neurons along a specific differentiation pathway. Plays a role in the formation of somite boundaries during segmentation of the paraxial mesoderm (By similarity) (618 aa) | |||
TAX1BP3 | Tax1 (human T-cell leukemia virus type I) binding protein 3; May regulate a number of protein-protein interactions by competing for PDZ domain binding sites. Binds CTNNB1 and may thereby act as an inhibitor of the Wnt signaling pathway. Competes with LIN7A for KCNJ4 binding, and thereby promotes KCNJ4 internalization. May play a role in the Rho signaling pathway. May play a role in activation of CDC42 by the viral protein HPV16 E6 (124 aa) | |||
DLL4 | delta-like 4 (Drosophila); Plays a role in the Notch signaling pathway. Activates Notch-1 and Notch-4 (By similarity) (685 aa) | |||
USHBP1 | Usher syndrome 1C binding protein 1 (703 aa) | |||
JAG1 | jagged 1; Ligand for multiple Notch receptors and involved in the mediation of Notch signaling. May be involved in cell-fate decisions during hematopoiesis. Seems to be involved in early and late stages of mammalian cardiovascular development. Inhibits myoblast differentiation (By similarity). Enhances fibroblast growth factor-induced angiogenesis (in vitro) (1218 aa) | |||
CFC1 | cripto, FRL-1, cryptic family 1; NODAL coreceptor involved in the correct establishment of the left-right axis. May play a role in mesoderm and/or neural patterning during gastrulation (223 aa) | |||
CDHR2 | cadherin-related family member 2; Role in contact inhibition at the lateral surface of epithelial cells (1310 aa) | |||
FRAS1 | Fraser syndrome 1 (4012 aa) | |||
WDR61 | WD repeat domain 61; Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non- phosphorylated and ’Ser-2’- and ’Ser-5’-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target gene [...] (305 aa) | |||
ANKS4B | ankyrin repeat and sterile alpha motif domain containing 4B (417 aa) | |||
USH1G | Usher syndrome 1G (autosomal recessive); 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 (461 aa) | |||
CTNNAL1 | catenin (cadherin-associated protein), alpha-like 1; May modulate the Rho pathway signaling by providing a scaffold for the Lbc Rho guanine nucleotide exchange factor (ARHGEF1) (734 aa) | |||
CNTN2 | contactin 2 (axonal); May play a role in the initial growth and guidance of axons. May be involved in cell adhesion (1040 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) | |||
UBA1 | ubiquitin-like modifier activating enzyme 1; Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding an ubiquitin- E1 thioester and free AMP (1058 aa) | |||
RAC1 | ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1); Plasma membrane-associated small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate cellular responses such as secretory processes, phagocytosis of apoptotic cells, epithelial cell polarization and growth-factor induced formation of membrane ruffles. Rac1 p21/rho GDI heterodimer is the active component of the cytosolic factor sigma 1, which is involved in stimulation of the NADPH oxidase activity in ma [...] (211 aa) | |||
DLK2 | delta-like 2 homolog (Drosophila); Regulates adipogenesis (By similarity) (383 aa) | |||
CDHR5 | cadherin-related family member 5 (845 aa) | |||
PCDH15 | protocadherin-related 15; Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function (1957 aa) | |||
QKI | QKI, KH domain containing, RNA binding (341 aa) | |||
CDH23 | cadherin-related 23; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing (1114 aa) | |||
MYO7A | myosin VIIA; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. In the retina, plays an important role in the renewal of the outer photoreceptor disks. Plays an important role in the distribution and migration of retinal pigment epithelial (RPE) melanosomes and phagosomes, and in the regulation of opsin transport in retinal photoreceptors. In the inner ear, plays an important role in differentiation, morphoge [...] (2215 aa) | |||
MYO7B | myosin VIIB; Myosins are actin-based motor molecules with ATPase activity. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. May be have a role in the apical membranes of transporting epithelia (By similarity) (2116 aa) | |||
SAAL1 | serum amyloid A-like 1 (474 aa) | |||
LIN7A | lin-7 homolog A (C. elegans); Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may [...] (233 aa) |