USH1C iso5 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: 11p15.1
Cellular Component:  apical part of cell; brush border; cytoplasm; cytoskeleton; cytosol; microvillus; photoreceptor inner segment; photoreceptor outer segment; plasma membrane; stereocilium; synapse
Molecular Function:  actin filament binding; protein binding; spectrin binding
Biological Process:  actin filament bundle assembly; brush border assembly; 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; parallel actin filament bundle assembly; photoreceptor cell maintenance; protein localization to microvillus; regulation of microvillus length; sensory perception of light stimulus; sensory perception of sound
Disease: Deafness, Autosomal Recessive 18a; Usher Syndrome, Type I; Usher Syndrome, Type Ic
Reference #:  Q9Y6N9-5 (UniProtKB)
Alt. Names/Synonyms: AIE-75; AIE75; antigen NY-CO-38/NY-CO-37; autoimmune enteropathy-related antigen AIE-75; DFNB18; DFNB18A; Harmonin; Harmonin isoform b3; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; PDZD7C; Protein PDZ-73; renal carcinoma antigen NY-REN-3; USH1 protein network component harmonin; USH1C; USH1C iso5; ush1cpst; Usher syndrome 1C (autosomal recessive, severe); Usher syndrome 1C (Autosomal recessive, severe), isoform CRA_b; usher syndrome type-1C protein
Gene Symbols: USH1C
Molecular weight: 101,344 Da
Basal Isoelectric point: 7.11  Predict pI for various phosphorylation states
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USH1C iso5

Protein Structure Not Found.

Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene