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Gene : ATP6V1E1 Homo sapiens

Name  ? ATPase H+ transporting V1 subunit E1 Cytological Location  22q11.21
Brief Description  ATPase H transporting V1 subunit E1
Description  This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008]
  • synonyms:
  • ATP6V1E,
  • P31,
  • ATP6E2,
  • HGNC:857,
  • ATP6E2,
  • ATP6E,
  • ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD,
  • ATP6E,
  • NM_001696,
  • ATP6V1E,
  • Vma4,
  • X76228,
  • ATP6V1E1,
  • P31,
  • ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 1,
  • OTTHUMG00000059320,
  • ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1,
  • ARCL2C,
  • Vma4,
  • uc002zmr.3
  • identifiers:
  • 529,
  • ENSG00000131100,
  • ATP6V1E1

Genome feature

Region: gene ? Length: 36687  
Location: 22:17592136-17628822 reverse strand Cyto location: 22q11.21

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1 Diseases

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3740 SN Ps

5 Cross References

18 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results