ATP6AP1

ATP6AP1
Identifiers
AliasesATP6AP1, 16A, ATP6IP1, ATP6S1, Ac45, CF2, VATPS1, XAP-3, XAP3, ATPase H+ transporting accessory protein 1
External IDsMGI: 109629 HomoloGene: 914 GeneCards: ATP6AP1
Gene location (Human)
Chr.X chromosome (human)[1]
BandXq28Start154,428,632 bp[1]
End154,436,516 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

537

54411

Ensembl

ENSG00000071553

ENSMUSG00000019087

UniProt

Q15904

Q9R1Q9

RefSeq (mRNA)

NM_001183

NM_018794
NM_001358375
NM_001358380

RefSeq (protein)

NP_001174

NP_061264
NP_001345304
NP_001345309

Location (UCSC)Chr X: 154.43 – 154.44 MbChr X: 74.3 – 74.3 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

The human gene ATP6AP1 encodes the S1 subunit of the enzyme V-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]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000071553 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000019087 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ Chen EY, Zollo M, Mazzarella R, Ciccodicola A, Chen CN, Zuo L, Heiner C, Burough F, Repetto M, Schlessinger D, D'Urso M (Jun 1997). "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. doi:10.1093/hmg/5.5.659. PMID 8733135.
  6. ↑ 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. PMID 8281148.
  7. 1 2 "Entrez Gene: ATP6AP1 ATPase, H+ transporting, lysosomal accessory protein 1".

Further reading

  • Finbow ME, Harrison MA (1997). "The vacuolar H+-ATPase: a universal proton pump of eukaryotes". Biochem. J. 324 (3): 697–712. doi:10.1042/bj3240697. PMC 1218484. PMID 9210392.
  • 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. PMID 9442887.
  • Nelson N, Harvey WR (1999). "Vacuolar and plasma membrane proton-adenosinetriphosphatases". Physiol. Rev. 79 (2): 361–85. doi:10.1152/physrev.1999.79.2.361. PMID 10221984.
  • Forgac M (1999). "Structure and properties of the vacuolar (H+)-ATPases". J. Biol. Chem. 274 (19): 12951–4. doi:10.1074/jbc.274.19.12951. PMID 10224039.
  • Kane PM (1999). "Introduction: V-ATPases 1992-1998". J. Bioenerg. Biomembr. 31 (1): 3–5. doi:10.1023/A:1001884227654. PMID 10340843.
  • Wieczorek H, Brown D, Grinstein S, et al. (1999). "Animal plasma membrane energization by proton-motive V-ATPases". BioEssays. 21 (8): 637–48. doi:10.1002/(SICI)1521-1878(199908)21:8<637::AID-BIES3>3.0.CO;2-W. PMID 10440860.
  • 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. PMID 8034313.
  • 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. PMID 10336633.
  • Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
  • Bagai S, Rubio E, Cheng JF, et al. (2002). "Fibroblast growth factor-10 is a mitogen for urothelial cells". J. Biol. Chem. 277 (26): 23828–37. doi:10.1074/jbc.M201658200. PMID 11923311.
  • Hodi FS, Schmollinger JC, Soiffer RJ, et al. (2002). "ATP6S1 elicits potent humoral responses associated with immune-mediated tumor destruction". Proc. Natl. Acad. Sci. U.S.A. 99 (10): 6919–24. doi:10.1073/pnas.102025999. PMC 124504. PMID 11983866.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.


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