| Gene Symbol |
USH1C
|
| Entrez Gene |
10083
|
| Alt Symbol |
AIE-75, DFNB18, DFNB18A, NY-CO-37, NY-CO-38, PDZ-45, PDZ-73, PDZ-73/NY-CO-38, PDZ73, PDZD7C, ush1cpst
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
Usher syndrome 1C (autosomal recessive, severe)
|
| Other Description |
antigen NY-CO-38/NY-CO-37|autoimmune enteropathy-related antigen AIE-75|harmonin|renal carcinoma antigen NY-REN-3|usher syndrome type-1C protein
|
| Swissprots |
Q9UPC3 Q96B29 A8K423 Q9UM04 Q9Y6N9 Q7RTU8 Q9UM17
|
| Accessions |
EAW68431 EAW68432 EAW68433 EAW68434 Q9Y6N9 AB006955 BAA81739 AB018687 BAA81740 AF039699 AAC18048 AF039700 AAC18049 AK024943 BAB15040 AK225614 AK290788 BAF83477 AK300936 BAG62565 AL711953 BC016057 AAH16057 BK000147 DAA00086 BX641129 JF432227 ADZ15444 XM_011519831 XP_011518133 XM_011519832 XP_011518134 XM_011519833 XP_011518135 XM_011519834 XP_011518136 XR_930841 XR_930842 NM_001297764 NP_001284693 NM_005709 NP_005700 NM_153676 NP_710142 NR_123738
|
| 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}.
|
| Subcellular Location |
Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Note=Colocalizes with F-actin (By similarity). Detected at the tip of cochlear hair cell stereocilia. {ECO:0000250}.
|
| Tissue Specificity |
Expressed in small intestine, colon, kidney, eye and weakly in pancreas. Expressed also in vestibule of the inner ear. {ECO:0000269|PubMed:12588794}.
|
![Western Blot: USH1C Overexpression Lysate (Adult Normal) [NBP2-05243] Left-Empty vector transfected control cell lysate (HEK293 cell lysate); Right -Over-expression Lysate for USH1C.](http://www.bioprodhub.com/system/product_images/cel_products/5/sub_1/17262_USH1C%2520Overexpression%2520Lysate%2520%2528Adult%2520Normal%2529-Western%2520Blot-NBP2-05243-img0001.jpg)