ATP6V1E1

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ATP6V1E1
Identifiers
Aliases ATP6V1E1, ATP6E, ATP6E2, ATP6V1E, P31, Vma4, ATPase H+ transporting V1 subunit E1, ARCL2C
External IDs MGI: 894326 HomoloGene: 1282 GeneCards: ATP6V1E1
Gene location (Human)
Chromosome 22 (human)
Chr. Chromosome 22 (human)[1]
Chromosome 22 (human)
Genomic location for ATP6V1E1
Genomic location for ATP6V1E1
Band 22q11.21 Start 17,592,136 bp[1]
End 17,628,818 bp[1]
RNA expression pattern
PBB GE ATP6V1E1 208678 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001696
NM_001039366
NM_001039367

NM_007510

RefSeq (protein)

NP_001034455
NP_001034456
NP_001687
NP_001687.1

NP_031536

Location (UCSC) Chr 22: 17.59 – 17.63 Mb Chr 22: 120.79 – 120.82 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

V-type proton ATPase subunit E 1 is an enzyme that in humans is encoded by the ATP6V1E1 gene.[5][6][7]

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.[7]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000131100 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000019210 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ 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. 
  6. ^ 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. 
  7. ^ a b "Entrez Gene: ATP6V1E1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1". 

External links[edit]

Further reading[edit]