Gene Symbol | USH1G |
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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}. |
USH1G (D-10) - sc-514418 from Santa Cruz Biotechnology
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USH1G (H-217) - sc-367644 from Santa Cruz Biotechnology
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USH1G (N-15) - sc-69070 from Santa Cruz Biotechnology
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Anti-USH1G antibody - ab150820 from Abcam
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Anti-USH1G antibody - ab101329 from Abcam
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Anti-USH1G antibody - ab196350 from Abcam
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USH1G Antibody - NBP1-89076 from Novus Biologicals
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USH1G Antibody - NBP2-20823 from Novus Biologicals
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Anti-USH1G antibody produced in rabbit - HPA024360 from Sigma-Aldrich
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USH1G antibody - 21936-1-AP from Proteintech Group
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USH1G - MBS274144 from MyBioSource
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Anti-USH1G (aa 90-163) polyclonal antibody - DPABH-02966 from Creative Diagnostics
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USH1G Polyclonal Antibody - PA5-29069 from Thermo Fisher Scientific
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USH1G antibody - pab0982-P from Covalab
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USH1G antibody - 21936-1-AP from Acris Antibodies
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Anti-USH1G antibody produced in rabbit - SAB2700424 from Sigma-Aldrich
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USH1G Antibody,Biotin conjugated - CSB-PA676572LD01HU from Cusabio
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USH1G Antibody,FITC conjugated - CSB-PA676572LC01HU from Cusabio
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USH1G Antibody,HRP conjugated - CSB-PA676572LB01HU from Cusabio
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USH1G Antibody - CSB-PA676572LA01HU from Cusabio
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USH1G antibody (Biotin) - orb30272 from Biorbyt
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anti-USH1G antibody - A009299 from Biobool
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Anti-USH1G Antibody - LS-C395112 from LifeSpan Bioscience
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Anti-USH1G Antibody (Biotin) - LS-C395126 from LifeSpan Bioscience
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Anti-USH1G Antibody (HRP) - LS-C395114 from LifeSpan Bioscience
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