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.
Protein type: Cytoskeletal
Chromosomal Location of Human Ortholog: 7 B3|7 29.66 cM
Cellular Component:  apical part of cell; brush border; cell projection; cytoplasm; cytoskeleton; cytosol; microvillus; photoreceptor inner segment; photoreceptor outer segment; plasma membrane; stereocilia ankle link; stereocilia ankle link complex; stereocilium; stereocilium tip; synapse
Molecular Function:  actin filament binding; myosin tail binding; protein binding; spectrin binding
Biological Process:  actin filament bundle assembly; brush border assembly; cell differentiation; cellular protein-containing complex assembly; 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; regulation of microvillus length; retinal cone cell development; sensory perception of light stimulus; sensory perception of sound
Reference #:  Q9ES64 (UniProtKB)
Alt. Names/Synonyms: 2010016F01Rik; Harmonin; OTTMUSP00000031809; OTTMUSP00000031812; PDZ domain-containing protein; Ush1c; Usher syndrome 1C homolog (human); Usher syndrome type-1C protein homolog
Gene Symbols: Ush1c
Molecular weight: 102,285 Da
Basal Isoelectric point: 6.65  Predict pI for various phosphorylation states
Select Structure to View Below

USH1C

Protein Structure Not Found.


Cross-references to other databases:  STRING  |  BioGPS  |  Pfam  |  RCSB PDB  |  Phospho3D  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene