InnateDB Protein
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IDBP-34083.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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USH1C
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Protein Name
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Usher syndrome 1C (autosomal recessive, severe)
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Synonyms
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AIE-75; DFNB18; DFNB18A; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; PDZD7C; ush1cpst;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000005226
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InnateDB Gene
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IDBG-34081 (USH1C)
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Protein Structure
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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). {ECO:0000250}.
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Subcellular Localization |
Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Note=Colocalizes with F-actin (By similarity). Detected at the tip of cochlear hair cell stereocilia. {ECO:0000250}.
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Disease Associations |
Usher syndrome 1C (USH1C) [MIM:276904]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with 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. {ECO:0000269PubMed:10973247}. Note=The disease is caused by mutations affecting the gene represented in this entry.Deafness, autosomal recessive, 18A (DFNB18A) [MIM:602092]: A form of non-syndromic 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. {ECO:0000269PubMed:12107438}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Expressed in small intestine, colon, kidney, eye and weakly in pancreas. Expressed also in vestibule of the inner ear. {ECO:0000269PubMed:12588794}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated |
Total |
14
[view]
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Protein-Protein |
14
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
6 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001478
PDZ domain
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PFAM |
PF00595
PF13180
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PRINTS |
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PIRSF |
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SMART |
SM00228
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TIGRFAMs |
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Modification |
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SwissProt |
Q9Y6N9
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PhosphoSite |
PhosphoSite-Q9Y6N9
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
10083
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UniGene |
Hs.502072
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RefSeq |
NP_710142
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HUGO |
HGNC:12597
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OMIM |
605242
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CCDS |
CCDS7825
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HPRD |
09241
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IMGT |
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EMBL |
AB006955
AB018687
AC124799
AF039699
AF039700
AK290788
BC016057
BK000147
CH471064
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GenPept |
AAC18048
AAC18049
AAH16057
BAA81739
BAA81740
BAF83477
DAA00086
EAW68432
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