Gene Symbol | USH1C |
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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}. |
Harmonin (C-18) - sc-26287 from Santa Cruz Biotechnology
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Harmonin (D-18) - sc-26286 from Santa Cruz Biotechnology
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Harmonin (N-17) - sc-26285 from Santa Cruz Biotechnology
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Harmonin (H-159) - sc-366364 from Santa Cruz Biotechnology
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Anti-USH1C antibody - ab172544 from Abcam
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Anti-USH1C antibody - ab19045 from Abcam
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Anti-USH1C antibody - ab56812 from Abcam
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Anti-USH1C antibody [EPR8131] - ab133763 from Abcam
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Anti-Harmonin / USH1C Antibody (aa1-30, AP) - LS-C273139 from LifeSpan Bioscience
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Anti-Harmonin / USH1C Antibody (aa1-30, APC) - LS-C273140 from LifeSpan Bioscience
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Anti-Harmonin / USH1C Antibody (clone 2B3) - LS-C139365 from LifeSpan Bioscience
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Anti-Harmonin / USH1C Antibody (aa1-30, Biotin) - LS-C273141 from LifeSpan Bioscience
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Anti-Harmonin / USH1C Antibody (aa1-30, Azide-free, HRP) - LS-C273143 from LifeSpan Bioscience
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Anti-Harmonin / USH1C Antibody (aa1-30, PE) - LS-C273144 from LifeSpan Bioscience
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Anti-Harmonin / USH1C Antibody (aa1-30, FITC) - LS-C273142 from LifeSpan Bioscience
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Anti-Harmonin / USH1C Antibody (aa1-30) - LS-C326221 from LifeSpan Bioscience
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Anti-Harmonin / USH1C Antibody (Internal, clone EPR8131) - LS-C154511 from LifeSpan Bioscience
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Anti-Harmonin / USH1C Antibody (aa2-14) - LS-C55649 from LifeSpan Bioscience
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Anti-Harmonin / USH1C Antibody (aa1-30) - LS-C157025 from LifeSpan Bioscience
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USH1C Antibody - 20900002 from Novus Biologicals
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USH1C Antibody - NB100-1405 from Novus Biologicals
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USH1C Antibody - NBP1-89190 from Novus Biologicals
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USH1C Antibody - NBP1-89189 from Novus Biologicals
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USH1C Antibody - 20920002 from Novus Biologicals
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USH1C Antibody (2B9) - H00010083-M04 from Novus Biologicals
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