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Gene : ATP6AP1 Homo sapiens

Name  ? ATPase H+ transporting accessory protein 1 Cytological Location  Xq28
Brief Description  ATPase H transporting accessory protein 1
Description  This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised 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 may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. This protein may also play a role in early development. [provided by RefSeq, Aug 2013]
  • synonyms:
  • OTTHUMG00000033291,
  • uc004flf.3,
  • XAP-3,
  • ORF,
  • 16A,
  • XAP3,
  • ATP6IP1,
  • XAP3,
  • ATP6AP1,
  • ATP6S1,
  • ATPase, H+ transporting, lysosomal accessory protein 1,
  • VATPS1,
  • NM_001183,
  • ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1,
  • ATP6IP1,
  • XAP-3,
  • Ac45,
  • CF2,
  • HGNC:868,
  • ATP6S1,
  • Ac45,
  • D16469,
  • VATPS1,
  • CF2,
  • 16A
  • identifiers:
  • 537,
  • ENSG00000071553,
  • ATP6AP1

Genome feature

Region: gene ? Length: 7848  
Location: X:154428669-154436516 Cyto location: Xq28

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Gene Report --> GWAS hit


1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



615 SN Ps

5 Cross References

18 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results