ATP6V1E1

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ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1
Identifiers
Symbols ATP6V1E1 ; ATP6E; ATP6E2; ATP6V1E; P31; Vma4
External IDs OMIM108746 MGI894326 HomoloGene1282 GeneCards: ATP6V1E1 Gene
EC number 3.6.3.14
RNA expression pattern
PBB GE ATP6V1E1 208678 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 529 11973
Ensembl ENSG00000131100 ENSMUSG00000019210
UniProt P36543 P50518
RefSeq (mRNA) NM_001039366 NM_007510
RefSeq (protein) NP_001034455 NP_031536
Location (UCSC) Chr 22:
18.07 – 18.11 Mb
Chr 6:
120.8 – 120.82 Mb
PubMed search [1] [2]

V-type proton ATPase subunit E 1 is an enzyme that in humans is encoded by the ATP6V1E1 gene.[1][2][3]

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.[3]

References[edit]

  1. ^ Baud V, Mears AJ, Lamour V, Scamps C, Duncan AM, McDermid HE, Lipinski M (Jul 1994). "The E subunit of vacuolar H(+)-ATPase localizes close to the centromere on human chromosome 22". Hum Mol Genet 3 (2): 335–9. doi:10.1093/hmg/3.2.335. PMID 8004105. 
  2. ^ van Hille B, Vanek M, Richener H, Green JR, Bilbe G (Jan 1994). "Cloning and tissue distribution of subunits C, D, and E of the human vacuolar H(+)-ATPase". Biochem Biophys Res Commun 197 (1): 15–21. doi:10.1006/bbrc.1993.2434. PMID 8250920. 
  3. ^ a b "Entrez Gene: ATP6V1E1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1". 

Further reading[edit]