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 CRISPR/Cas9 KO Plasmid (h) - sc-414220 from Santa Cruz Biotechnology
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USH1G HDR Plasmid (h) - sc-414220-HDR from Santa Cruz Biotechnology
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USH1G Double Nickase Plasmid (h) - sc-414220-NIC from Santa Cruz Biotechnology
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USH1G Double Nickase Plasmid (h2) - sc-414220-NIC-2 from Santa Cruz Biotechnology
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USH1G CRISPR Activation Plasmid (h) - sc-414220-ACT from Santa Cruz Biotechnology
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USH1G CRISPR Activation Plasmid (h2) - sc-414220-ACT-2 from Santa Cruz Biotechnology
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USH1G Lentiviral Activation Particles (h) - sc-414220-LAC from Santa Cruz Biotechnology
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USH1G Lentiviral Activation Particles (h2) - sc-414220-LAC-2 from Santa Cruz Biotechnology
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USH1G siRNA (h) - sc-63189 from Santa Cruz Biotechnology
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USH1G shRNA Plasmid (h) - sc-63189-SH from Santa Cruz Biotechnology
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USH1G shRNA (h) Lentiviral Particles - sc-63189-V from Santa Cruz Biotechnology
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MISSION® esiRNA - EHU150881 from Sigma-Aldrich
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CompoZr® Knockout ZFN Kit - CKOZFN22550 from Sigma-Aldrich
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CompoZr® Knockout ZFN Kit, ZFN plasmid only - CKOZFND22550 from Sigma-Aldrich
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MISSION® 3′UTR Lenti GoClone™ - HUTR12811 from Sigma-Aldrich
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USH1G siRNA (Human) - CRJ4773 from Cohesion Biosciences
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USH1G - MBS8236223 from MyBioSource
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shRNA set against Human USH1G (NM_173477.2) - SHH441129 from Creative biogene
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shRNA set against Human USH1G(NM_173477.2) - SHL116814 from Creative biogene
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USH1G shRNA Plasmid (Human) - CHJ4773 from Cohesion Biosciences
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USH1G miRNA 3'UTR clone - MiUTR1H-11043 from Creative biogene
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