ATP6AP1

ATPase, H+ transporting, lysosomal accessory protein 1
Identifiers
Symbols	ATP6AP1 ; 16A; ATP6IP1; ATP6S1; Ac45; CF2; VATPS1; XAP-3; XAP3
External IDs	OMIM: 300197 MGI: 109629 HomoloGene: 914 ChEMBL: 4790 GeneCards: ATP6AP1 Gene
EC number	3.6.3.14
Gene ontology Molecular function • transporter activity • ATP binding • Rab GTPase binding • proton-transporting ATP synthase activity, rotational mechanism • proton-transporting ATPase activity, rotational mechanism Cellular component • vacuolar membrane • endosome membrane • integral component of membrane • proton-transporting two-sector ATPase complex • proton-transporting V-type ATPase, V1 domain • extracellular exosome Biological process • cellular iron ion homeostasis • insulin receptor signaling pathway • ATP hydrolysis coupled proton transport • proton transport • transferrin transport • ion transmembrane transport • positive regulation of osteoblast differentiation • positive regulation of bone resorption • pH reduction • positive regulation of exocytosis • establishment of organelle localization • transmembrane transport • positive regulation of ERK1 and ERK2 cascade • positive regulation of osteoclast development Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	537	54411
Ensembl	ENSG00000071553	ENSMUSG00000019087
UniProt	Q15904	Q9R1Q9
RefSeq (mRNA)	NM_001183	NM_018794
RefSeq (protein)	NP_001174	NP_061264
Location (UCSC)	Chr X: 154.43 – 154.44 Mb	Chr X: 74.3 – 74.3 Mb
PubMed search

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]

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 (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.
2. 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.
3. "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. 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. 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.