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Gene : ATP6V1H Homo sapiens

Name  ? ATPase H+ transporting V1 subunit H Cytological Location  8q11.23
Brief Description  ATPase H transporting V1 subunit H
Description  This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
  • synonyms:
  • NM_015941,
  • SFDbeta,
  • SFD,
  • CGI-11,
  • ATP6V1H,
  • SFDalpha,
  • uc003xrm.5,
  • ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H,
  • VMA13,
  • NBP1,
  • SFDbeta,
  • AF132945,
  • vacuolar ATP synthase subunit H,
  • HGNC:18303,
  • SFDalpha,
  • OTTHUMG00000164231,
  • ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H,
  • VMA13,
  • MSTP042,
  • CGI-11,
  • SFD
  • identifiers:
  • 51606,
  • ENSG00000047249,
  • ATP6V1H

Genome feature

Region: gene ? Length: 127703  
Location: 8:53715543-53843245 reverse strand Cyto location: 8q11.23

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0 Diseases

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92 SNPs

5 Cross References

16 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results