Gene Symbol | USH1G |
---|---|
Entrez Gene | 124590 |
Alt Symbol | ANKS4A, SANS |
Species | Human |
Gene Type | protein-coding |
Description | Usher syndrome 1G (autosomal recessive) |
Other Description | Usher syndrome type-1G protein|scaffold protein containing ankyrin repeats and SAM domain |
Swissprots | Q8N251 Q495M9 |
Accessions | EAW89212 Q495M9 AK091243 BAC03619 AK289804 BAF82493 AK296899 BAG59457 BC101096 AAI01097 BC101097 AAI01098 BC101098 AAI01099 BC101099 AAI01100 DC403891 XM_011524296 XP_011522598 NM_001282489 NP_001269418 NM_173477 NP_775748 |
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. {ECO:0000269|PubMed:21709241}. |
Subcellular Location | Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=Detected at the tip of cochlear hair cell stereocilia. Recruited to the cell membrane via interaction with CDH23 or PCDH15 (By similarity). {ECO:0000250}. |
Tissue Specificity | Expressed in vestibule of the inner ear, eye and small intestine. {ECO:0000269|PubMed:12588794}. |