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atp6v1h

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Official Full Name
ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H
Background
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.
Synonyms
ATP6V1H; ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H; ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H; V-type proton ATPase subunit H; CGI 11; SFD; SFDalpha; SFDbeta; vacuolar ATP synthase subunit H; VMA13; CGI11; EC 3.6.3.14; MSTP042; NBP1; Nef binding protein 1; Nef-binding protein 1; Protein VMA13 homolog; V ATPase subunit H; V-ATPase 50/57 kDa subunits; V-ATPase subunit H; Vacuolar proton pump subunit H; Vacuolar proton pump subunit SFD; VATH_HUMAN; OTTHUMP00000226227; OTTHUMP00000226228; OTTHUMP00000226253; OTTHUMP00000226254; V-ATPase H subunit; vacuolar ATPase subunit H; vacuolar proton pump H subunit; CGI-11; ATPase, H+ transporting, lysosomal V1 subunit H; chunp6890; unm hi923; un-named hi923

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