The humangeneATP6AP1 encodes the S1 subunit of theenzymeV-type proton ATPase.[5][6][7]
This gene encodes a component of a multisubunit enzyme (1mDa MW) that mediates acidification ofeukaryotic intracellularorganelles. 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-mediatedendocytosis. The encoded protein of this gene is approximately 45 kD and may assist in the V-ATPase-mediated acidification of neuroendocrinesecretory granules.[7]
^Sedlacek Z, Korn B, Konecki DS, Siebenhaar R, Coy JF, Kioschis P, Poustka A (Feb 1994). "Construction of a transcription map of a 300 kb region around the human G6PD locus by direct cDNA selection".Hum Mol Genet.2 (11):1865–9.doi:10.1093/hmg/2.11.1865.PMID8281148.
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.
