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USH1C 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. Defects in USH1C are the cause of Usher syndrome type 1C (USH1C); also known as Usher syndrome type I Acadian variety. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. Defects in USH1C are the cause of deafness autosomal recessive type 18 (DFNB18). DFNB18 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. 5 isoforms of the human protein are produced by alternative splicing. 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 formation; auditory receptor cell differentiation; cellular protein complex assembly; equilibrioception; G2/M transition of mitotic cell cycle; inner ear morphogenesis; inner ear receptor stereocilium organization and biogenesis; parallel actin filament bundle assembly; photoreceptor cell maintenance; 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 (UniProtKB)
Alt. Names/Synonyms: AIE-75; AIE75; Antigen NY-CO-38/NY-CO-37; Autoimmune enteropathy-related antigen AIE-75; DFNB18; Harmonin; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; Protein PDZ-73; Renal carcinoma antigen NY-REN-3; USH1C; ush1cpst; Usher syndrome 1C (autosomal recessive, severe); Usher syndrome type-1C protein
Gene Symbols: USH1C
Molecular weight: 62,211 Da
Basal Isoelectric point: 5.36  Predict pI for various phosphorylation states
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