ATP6AP1

Last updated

ATP6AP1
Identifiers
Aliases ATP6AP1 , 16A, ATP6IP1, ATP6S1, Ac45, CF2, VATPS1, XAP-3, XAP3, ATPase H+ transporting accessory protein 1
External IDs OMIM: 300197; MGI: 109629; HomoloGene: 914; GeneCards: ATP6AP1; OMA:ATP6AP1 - orthologs
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 Mb Chr X: 73.34 – 73.35 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

Contents

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:". 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. 1 2 "Entrez Gene: ATP6AP1 ATPase, H+ transporting, lysosomal accessory protein 1".

Further reading