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USH1C
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 development and maintenance of cochlear hair cell bundles. As part of the intermicrovillar adhesion complex/IMAC plays a role in brush border differentiation, controlling microvilli organization and length. Probably plays a central regulatory role in the assembly of the complex, recruiting CDHR2, CDHR5 and MYO7B to the microvilli tips. Expressed in small intestine, colon, kidney, eye and weakly in pancreas. Expressed also in vestibule of the inner ear. 5 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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| Protein type: Cytoskeletal |
| Chromosomal Location of mouse Ortholog: 7 B3|7 29.66 cM |
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Cellular Component:
apical part of cell; brush border; cell projection; cilium; cytoplasm; cytoskeleton; cytosol; microvillus; photoreceptor inner segment; photoreceptor outer segment; plasma membrane; stereocilia ankle link complex; stereocilium; stereocilium tip; synapse; upper tip-link density
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Molecular Function:
myosin tail binding; protein binding; spectrin binding
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Biological Process:
actin filament bundle assembly; brush border assembly; cell differentiation; equilibrioception; G2/M transition of mitotic cell cycle; inner ear auditory receptor cell differentiation; inner ear morphogenesis; inner ear receptor cell stereocilium organization; neuromuscular process controlling balance; parallel actin filament bundle assembly; photoreceptor cell maintenance; protein localization to microvillus; protein-containing complex assembly; regulation of microvillus length; retinal cone cell development; sensory perception of light stimulus; sensory perception of sound
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Reference #:
Q9ES64
(UniProtKB)
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Alt. Names/Synonyms: 2010016F01Rik; Harmonin; OTTMUSP00000031809; OTTMUSP00000031812; PDZ domain-containing protein; USH1 protein network component harmonin; Ush1c; Usher syndrome 1C homolog; Usher syndrome 1C homolog (human); Usher syndrome type-1C protein homolog
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Gene Symbols: Ush1c
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Molecular weight:
102,285 Da
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Basal Isoelectric point:
6.65
Predict pI for various phosphorylation states
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