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Immunogen sequence: PQVLAVAAHD VGEYVRHYPR GKRVIEQLGG KQLVMNHMHH EDQQVRYNAL LAVQKLMVHN WEYLGKQLQS E
Highest antigen sequence identity to the following orthologs: Mouse - 100%, Rat - 100%.
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
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Protein Aliases: ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H; NBP1; Nef-binding protein 1; Protein VMA13 homolog; V-ATPase 50/57 kDa subunits; V-ATPase subunit H; V-type proton ATPase subunit H; vacuolar ATP synthase subunit H; vacuolar ATPase subunit H; Vacuolar proton pump subunit H; Vacuolar proton pump subunit SFD
Gene Aliases: ATP6V1H; CGI-11; MSTP042; NBP1; SFD; SFDalpha; SFDbeta; VMA13
UniProt ID: (Human) Q9UI12
Entrez Gene ID: (Human) 51606