Human Gene USH1C (ENST00000005226.12) from GENCODE V44
Description: Homo sapiens USH1 protein network component harmonin (USH1C), transcript variant b3, mRNA. (from RefSeq NM_153676) RefSeq Summary (NM_153676): This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]. Gencode Transcript: ENST00000005226.12 Gencode Gene: ENSG00000006611.17 Transcript (Including UTRs) Position: hg38 chr11:17,493,900-17,544,416 Size: 50,517 Total Exon Count: 27 Strand: - Coding Region Position: hg38 chr11:17,494,332-17,544,307 Size: 49,976 Coding Exon Count: 27
ID:USH1C_HUMAN DESCRIPTION: RecName: Full=Harmonin; AltName: Full=Antigen NY-CO-38/NY-CO-37; AltName: Full=Autoimmune enteropathy-related antigen AIE-75; AltName: Full=Protein PDZ-73; AltName: Full=Renal carcinoma antigen NY-REN-3; AltName: Full=Usher syndrome type-1C protein; FUNCTION: 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). SUBUNIT: Interacts with F-actin. Interacts with HARP (By similarity). Interacts with USH1G/SANS, USH2A and SLC4A7. Interacts (via the first PDZ domain) with the C-terminus of USHBP1. Interacts (via N-terminus and second PDZ domain) with CDH23. Part of a complex composed of USH1C, USH1G and MYO7A. SUBCELLULAR LOCATION: Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Note=Colocalizes with F-actin (By similarity). Detected at the tip of cochlear hair cell stereocilia. TISSUE SPECIFICITY: Expressed in small intestine, colon, kidney, eye and weakly in pancreas. Expressed also in vestibule of the inner ear. DOMAIN: The PDZ domain 1 mediates interactions with USH1G/SANS and SLC4A7. DISEASE: Defects in USH1C are the cause of Usher syndrome type 1C (USH1C) [MIM:276904]; 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. DISEASE: Defects in USH1C are the cause of deafness autosomal recessive type 18 (DFNB18) [MIM:602092]. 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. SIMILARITY: Contains 3 PDZ (DHR) domains. SEQUENCE CAUTION: Sequence=AAC18049.1; Type=Frameshift; Positions=552; WEB RESOURCE: Name=Mutations of the USH1C gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/ush1cmut.htm"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/USH1C";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9Y6N9
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
