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 CRISPR/Cas9 KO Plasmid (h) - sc-411412 from Santa Cruz Biotechnology
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Harmonin HDR Plasmid (h) - sc-411412-HDR from Santa Cruz Biotechnology
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Harmonin Double Nickase Plasmid (h) - sc-411412-NIC from Santa Cruz Biotechnology
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Harmonin Double Nickase Plasmid (h2) - sc-411412-NIC-2 from Santa Cruz Biotechnology
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Harmonin CRISPR Activation Plasmid (h) - sc-411412-ACT from Santa Cruz Biotechnology
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Harmonin CRISPR Activation Plasmid (h2) - sc-411412-ACT-2 from Santa Cruz Biotechnology
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Harmonin Lentiviral Activation Particles (h) - sc-411412-LAC from Santa Cruz Biotechnology
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Harmonin Lentiviral Activation Particles (h2) - sc-411412-LAC-2 from Santa Cruz Biotechnology
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Harmonin siRNA (h) - sc-40648 from Santa Cruz Biotechnology
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Harmonin shRNA Plasmid (h) - sc-40648-SH from Santa Cruz Biotechnology
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Harmonin shRNA (h) Lentiviral Particles - sc-40648-V from Santa Cruz Biotechnology
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USH1C RNAi - H00010083-R01 from Novus Biologicals
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USH1C RNAi - H00010083-R02 from Novus Biologicals
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MISSION® esiRNA - EHU086411 from Sigma-Aldrich
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CompoZr® Knockout ZFN Kit - CKOZFN22549 from Sigma-Aldrich
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CompoZr® Knockout ZFN Kit, ZFN plasmid only - CKOZFND22549 from Sigma-Aldrich
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MISSION® 3′UTR Lenti GoClone™ - HUTR03981 from Sigma-Aldrich
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USH1C siRNA (Human) - CRH6793 from Cohesion Biosciences
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USH1C - MBS8231688 from MyBioSource
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shRNA set against Human USH1C (NM_005709.3) - SHH441116 from Creative biogene
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Human USH1C siRNA - orb267295 from Biorbyt
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USH1C shRNA Plasmid (Human) - CHH6793 from Cohesion Biosciences
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USH1C miRNA 3'UTR clone - MiUTR4H-TG09697 from Creative biogene
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