ATP6AP1

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ATPase, H+ transporting, lysosomal accessory protein 1
Identifiers
Symbols ATP6AP1 ; 16A; ATP6IP1; ATP6S1; Ac45; CF2; VATPS1; XAP-3; XAP3
External IDs OMIM300197 MGI109629 HomoloGene914 ChEMBL: 4790 GeneCards: ATP6AP1 Gene
EC number 3.6.3.14
RNA expression pattern
PBB GE ATP6AP1 207809 s at tn.png
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 HG1497_PATCH:
153.64 – 153.64 Mb
Chr X:
74.3 – 74.3 Mb
PubMed search [1] [2]

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[edit]

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

Further reading[edit]