ATP6AP1 explained

The human gene ATP6AP1 encodes the S1 subunit of the enzyme V-type proton ATPase.^{[1] [2] [3]}

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.^[3]

Further reading

• Finbow ME, Harrison MA . The vacuolar H+-ATPase: a universal proton pump of eukaryotes . Biochem. J. . 324 . 3. 697–712 . 1997 . 9210392 . 10.1042/bj3240697. 1218484 .
• Stevens TH, Forgac M . Structure, function and regulation of the vacuolar (H+)-ATPase . Annu. Rev. Cell Dev. Biol. . 13 . 779–808 . 1998 . 9442887 . 10.1146/annurev.cellbio.13.1.779 .
• Nelson N, Harvey WR . Vacuolar and plasma membrane proton-adenosinetriphosphatases . Physiol. Rev. . 79 . 2 . 361–85 . 1999 . 10221984 . 10.1152/physrev.1999.79.2.361. 1477911 .
• Forgac M . Structure and properties of the vacuolar (H+)-ATPases . J. Biol. Chem. . 274 . 19 . 12951–4 . 1999 . 10224039 . 10.1074/jbc.274.19.12951 . free .
• Kane PM . Introduction: V-ATPases 1992-1998 . J. Bioenerg. Biomembr. . 31 . 1 . 3–5 . 1999 . 10340843 . 10.1023/A:1001884227654 .
• Wieczorek H, Brown D, Grinstein S . Animal plasma membrane energization by proton-motive V-ATPases . BioEssays . 21 . 8 . 637–48 . 1999 . 10440860 . 10.1002/(SICI)1521-1878(199908)21:8<637::AID-BIES3>3.0.CO;2-W . 23505139 . etal.
• Yokoi H, Hadano S, Kogi M . Isolation of expressed sequences encoded by the human Xq terminal portion using microclone probes generated by laser microdissection . Genomics . 20 . 3 . 404–11 . 1994 . 8034313 . 10.1006/geno.1994.1194 . etal.
• Holthuis JC, Jansen EJ, Schoonderwoert VT . Biosynthesis of the vacuolar H+-ATPase accessory subunit Ac45 in Xenopus pituitary . Eur. J. Biochem. . 262 . 2 . 484–91 . 1999 . 10336633 . 10.1046/j.1432-1327.1999.00396.x . etal.
• Hartley JL, Temple GF, Brasch MA . DNA cloning using in vitro site-specific recombination . Genome Res. . 10 . 11 . 1788–95 . 2001 . 11076863 . 10.1101/gr.143000 . 310948 .
• Bagai S, Rubio E, Cheng JF . Fibroblast growth factor-10 is a mitogen for urothelial cells . J. Biol. Chem. . 277 . 26 . 23828–37 . 2002 . 11923311 . 10.1074/jbc.M201658200 . etal. free.
• Hodi FS, Schmollinger JC, Soiffer RJ . ATP6S1 elicits potent humoral responses associated with immune-mediated tumor destruction . Proc. Natl. Acad. Sci. U.S.A. . 99 . 10 . 6919–24 . 2002 . 11983866 . 10.1073/pnas.102025999 . 124504 . 2002PNAS...99.6919H . etal. free .
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .

Notes and References

1. Chen EY, Zollo M, Mazzarella R, Ciccodicola A, Chen CN, Zuo L, Heiner C, Burough F, Repetto M, Schlessinger D, D'Urso M . Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci . Hum Mol Genet . 5 . 5 . 659–68 . Jun 1997 . 8733135 . 10.1093/hmg/5.5.659 . free .
2. Sedlacek Z, Korn B, Konecki DS, Siebenhaar R, Coy JF, Kioschis P, Poustka A . 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 . Feb 1994 . 8281148 . 10.1093/hmg/2.11.1865 .
3. Web site: Entrez Gene: ATP6AP1 ATPase, H+ transporting, lysosomal accessory protein 1.