| Entrez gene ID | | 51606 |
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| Official gene symbol | | ATP6V1H |
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| Full name | | ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H |
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| Aliases | | ,CGI-11,MSTP042,NBP1,SFD,SFDalpha,SFDbeta,VMA13, |
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| Gene summary | | This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes the regulatory H subunit of the V1 domain which is required for catalysis of ATP but not the assembly of V-ATPase. Three alternatively spliced transcript variants encode two isoforms of the H subunit. [provided by RefSeq] |
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| Location | | Chromosome: 8 Locus: 8q11.2 |
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| Gene position | | 54755850 - 54628115 Map Viewer |
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| Gene orientation | | minus |
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| Gene size | | 127736 bp |
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| Gene sequence |
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| OMIM ID | | 608861 |
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