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}. |
Human USH1C full length protein - ab117205 from Abcam
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Human USH1C peptide - ab45568 from Abcam
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Human USH1C protein fragment - ab86697 from Abcam
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Harmonin / USH1C Antibody Blocking Peptide - LS-E25686 from LifeSpan Bioscience
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Harmonin / USH1C Antibody Blocking Peptide - LS-E6714 from LifeSpan Bioscience
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Recombinant Human USH1C Protein - NBC1-28773 from Novus Biologicals
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USH1C Partial Recombinant Protein - H00010083-Q01 from Novus Biologicals
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USH1C Recombinant Protein - H00010083-P01 from Novus Biologicals
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USH1C-AntibodyN-term-Blocking-peptide - BP19566a from Abgent, a WuXi AppTec company
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USH1C/Harmonin blocking peptide - GTX89712-PEP from GeneTex
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USH1C Protein (OPPA01814) - OPPA01814 from Aviva Systems Biology
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Human USH1C His tag protein - orb84500 from Biorbyt
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Human USH1C protein - orb245007 from Biorbyt
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Human Usher Syndrome 1C protein - orb81458 from Biorbyt
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Harmonin protein (His tag) - 80R-1160 from Fitzgerald
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USH1C Peptide - AC21-0516-P from Abcore
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USH1C / Harmonin (1-533, His-tag) - AR09218PU-L from Acris Antibodies
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USH1C / Harmonin (1-533, His-tag) - AR09218PU-N from Acris Antibodies
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USH1C / Harmonin - H00010083-P01 from Acris Antibodies
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USH1C / Harmonin - H00010083-Q01-10 from Acris Antibodies
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USH1C / Harmonin - H00010083-Q01-25 from Acris Antibodies
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Usher Syndrome 1C, Human Recombinant - 228-11603-1 from RayBiotech
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Recombinant Human USH1C - 228-11603-2 from RayBiotech
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Recombinant Human USH1C - 228-11603-3 from RayBiotech
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Harmonin, 1-533aa, Human, His-tagged, Recombinant, E.coli - 01-2094 from ARP American Research Products
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