ATP6AP1

Protein-coding gene in humans
ATP6AP1
Identifiers
AliasesATP6AP1, 16A, ATP6IP1, ATP6S1, Ac45, CF2, VATPS1, XAP-3, XAP3, ATPase H+ transporting accessory protein 1
External IDsOMIM: 300197; MGI: 109629; HomoloGene: 914; GeneCards: ATP6AP1; OMA:ATP6AP1 - orthologs
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for ATP6AP1
Genomic location for ATP6AP1
BandXq28Start154,428,633 bp[1]
End154,436,516 bp[1]
Gene location (Mouse)
X chromosome (mouse)
Chr.X chromosome (mouse)[2]
X chromosome (mouse)
Genomic location for ATP6AP1
Genomic location for ATP6AP1
BandX A7.3|X 37.96 cMStart73,340,703 bp[2]
End73,348,327 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • Brodmann area 10

  • islet of Langerhans

  • stromal cell of endometrium

  • anterior pituitary

  • frontal pole

  • middle frontal gyrus

  • cingulate gyrus

  • Brodmann area 9

  • right lung

  • cerebellar vermis
Top expressed in
  • superior frontal gyrus

  • calvaria

  • epithelium of stomach

  • cerebellar cortex

  • anterior horn of spinal cord

  • hippocampus proper

  • temporal lobe

  • body of femur

  • amygdala

  • cingulate gyrus
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • nucleotide binding
  • proton-transporting ATP synthase activity, rotational mechanism
  • transporter activity
  • proton-transporting ATPase activity, rotational mechanism
  • ATP binding
Cellular component
  • integral component of membrane
  • proton-transporting V-type ATPase, V1 domain
  • membrane
  • proton-transporting two-sector ATPase complex
  • endosome membrane
  • extracellular exosome
  • endoplasmic reticulum
  • endoplasmic reticulum membrane
  • endoplasmic reticulum-Golgi intermediate compartment membrane
  • plasma membrane proton-transporting V-type ATPase complex
Biological process
  • insulin receptor signaling pathway
  • transferrin transport
  • pH reduction
  • ion transport
  • positive regulation of bone resorption
  • positive regulation of osteoclast development
  • establishment of organelle localization
  • ion transmembrane transport
  • positive regulation of osteoblast differentiation
  • positive regulation of ERK1 and ERK2 cascade
  • positive regulation of exocytosis
  • cellular iron ion homeostasis
  • cellular response to increased oxygen levels
  • transport
  • regulation of cellular pH
  • proton transmembrane transport
Sources:Amigo / QuickGO
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: 73.34 – 73.35 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. ^ a b c GRCh38: Ensembl release 89: ENSG00000071553 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000019087 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  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. ^ a b "Entrez Gene: ATP6AP1 ATPase, H+ transporting, lysosomal accessory protein 1".

External links

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. S2CID 1477911.
  • 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. S2CID 23505139.
  • 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. Bibcode:2002PNAS...99.6919H. 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.


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