The human gene ATP6AP1 encodes the S1 subunit of the enzyme V-type proton ATPase.[5][6][7]

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)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for ATP6AP1
Genomic location for ATP6AP1
BandXq28Start154,428,645 bp[1]
End154,436,516 bp[1]
RNA expression pattern
PBB GE ATP6AP1 207809 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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

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]

ReferencesEdit

  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:".
  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. ^ a b "Entrez Gene: ATP6AP1 ATPase, H+ transporting, lysosomal accessory protein 1".

External linksEdit

Further readingEdit