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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) | |||
PXN | paxillin; Cytoskeletal protein involved in actin-membrane attachment at sites of cell adhesion to the extracellular matrix (focal adhesion) (591 aa) | |||
PDLIM4 | PDZ and LIM domain 4 (330 aa) | |||
C19orf57 | chromosome 19 open reading frame 57 (637 aa) | |||
PDLIM3 | PDZ and LIM domain 3; May play a role in the organization of actin filament arrays within muscle cells (By similarity) (364 aa) | |||
JUP | junction plakoglobin; Common junctional plaque protein. The membrane- associated plaques are architectural elements in an important strategic position to influence the arrangement and function of both the cytoskeleton and the cells within the tissue. The presence of plakoglobin in both the desmosomes and in the intermediate junctions suggests that it plays a central role in the structure and function of submembranous plaques. Acts as a substrate for VE-PTP and is required by it to stimulate VE- cadherin function in endothelial cells. Can replace beta-catenin in E-cadherin/catenin adhes [...] (745 aa) | |||
LRFN4 | leucine rich repeat and fibronectin type III domain containing 4; Promotes neurite outgrowth in hippocampal neurons. May play a role in redistributing DLG4 to the cell periphery (By similarity) (635 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) | |||
RNF135 | ring finger protein 135; Acts as an E2-dependent E3 ubiquitin-protein ligase, involved in innate immune defense against viruses. Ubiquitinates DDX58 and is required for full activation of the DDX58 signaling resulting in interferon beta production (432 aa) | |||
CTNNB1 | catenin (cadherin-associated protein), beta 1, 88kDa; Key downstream component of the canonical Wnt signaling pathway. In the absence of Wnt, forms a complex with AXIN1, AXIN2, APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminal Ser and Thr residues and ubiquitination of CTNNB1 via BTRC and its subsequent degradation by the proteasome. In the presence of Wnt ligand, CTNNB1 is not ubiquitinated and accumulates in the nucleus, where it acts as a coactivator for transcription factors of the TCF/LEF family, leading to activate Wnt responsive genes. Involved in the regulation [...] (781 aa) | |||
UBC | ubiquitin C (685 aa) | |||
UCKL1 | uridine-cytidine kinase 1-like 1; May contribute to UTP accumulation needed for blast transformation and proliferation (548 aa) | |||
AKAP13 | A kinase (PRKA) anchor protein 13 (2817 aa) | |||
DMD | dystrophin (3685 aa) | |||
UTRN | utrophin; May play a role in anchoring the cytoskeleton to the plasma membrane (By similarity) (3433 aa) | |||
PDLIM1 | PDZ and LIM domain 1; Cytoskeletal protein that may act as an adapter that brings other proteins (like kinases) to the cytoskeleton (329 aa) | |||
UPRT | uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) (309 aa) | |||
DTNA | dystrobrevin, alpha (743 aa) | |||
KCNU1 | potassium channel, subfamily U, member 1; Testis-specific potassium channel activated by both intracellular pH and membrane voltage that mediates export of K(+). May be involved in sperm capacitation and/or the acrosome reaction, essential steps in fertilization where changes in both intracellular pH and membrane potential are known to occur. In contrast to KCNMA1/SLO1, it is not activated by Ca(2+) or Mg(2+) (By similarity) (1149 aa) | |||
DTNB | dystrobrevin, beta (627 aa) | |||
KCNMA1 | potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (1219 aa) | |||
ENSG00000248235 | Uncharacterized protein (325 aa) | |||
LDB3 | LIM domain binding 3 (732 aa) | |||
NEK1 | NIMA-related kinase 1; Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity. Implicated in the control of meiosis (By similarity). Involved in cilium assembly (1286 aa) |