The human geneATP6AP1 encodes the S1 subunit of the enzymeV-type proton ATPase.[5][6][7]
This gene encodes a component of a multisubunit enzyme (1 mDa MW) that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is composed of a cytosolic, V1, (site of the ATP catalytic site) and a transmembrane, V0, domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene is approximately 45 kD and may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules.[7]
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Stevens TH, Forgac M (1998). "Structure, function and regulation of the vacuolar (H+)-ATPase". Annu. Rev. Cell Dev. Biol. 13: 779–808. doi:10.1146/annurev.cellbio.13.1.779. PMID9442887.
Yokoi H, Hadano S, Kogi M, et al. (1994). "Isolation of expressed sequences encoded by the human Xq terminal portion using microclone probes generated by laser microdissection". Genomics. 20 (3): 404–11. doi:10.1006/geno.1994.1194. PMID8034313.
Holthuis JC, Jansen EJ, Schoonderwoert VT, et al. (1999). "Biosynthesis of the vacuolar H+-ATPase accessory subunit Ac45 in Xenopus pituitary". Eur. J. Biochem. 262 (2): 484–91. doi:10.1046/j.1432-1327.1999.00396.x. PMID10336633.