V-type proton ATPase 116 kDa subunit a isoform 4 is an enzyme that in humans is encoded by the ATP6V0A4 gene.[5][6][7]

ATP6V0A4
Identifiers
AliasesATP6V0A4, A4, ATP6N1B, ATP6N2, RDRTA2, RTA1C, RTADR, STV1, VPH1, VPP2, ATPase H+ transporting V0 subunit a4
External IDsMGI: 2153480 HomoloGene: 39904 GeneCards: ATP6V0A4
Gene location (Human)
Chromosome 7 (human)
Chr.Chromosome 7 (human)[1]
Chromosome 7 (human)
Genomic location for ATP6V0A4
Genomic location for ATP6V0A4
Band7q34Start138,706,294 bp[1]
End138,799,560 bp[1]
RNA expression pattern
PBB GE ATP6V0A4 220197 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_020632
NM_130840
NM_130841

NM_080467

RefSeq (protein)

NP_065683
NP_570855
NP_570856

NP_536715

Location (UCSC)Chr 7: 138.71 – 138.8 MbChr 6: 38.05 – 38.12 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Contents

FunctionEdit

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent 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 and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing.[7]

InteractionsEdit

ATP6V0A4 has been shown to interact with PFKM.[8]

ReferencesEdit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000105929 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000038600 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ Karet FE, Finberg KE, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Medina JF, Lifton RP (Jan 2000). "Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34". Am. J. Hum. Genet. 65 (6): 1656–65. doi:10.1086/302679. PMC 1288376. PMID 10577919. Check date values in: |year= / |date= mismatch (help)
  6. ^ Smith AN, Skaug J, Choate KA, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Lifton RP, Scherer SW, Karet FE (Oct 2000). "Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing". Nat. Genet. 26 (1): 71–5. doi:10.1038/79208. PMID 10973252.
  7. ^ a b "Entrez Gene: ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4".
  8. ^ Su Y, Zhou A, Al-Lamki RS, Karet FE (May 2003). "The a-subunit of the V-type H+-ATPase interacts with phosphofructokinase-1 in humans". J. Biol. Chem. 278 (22): 20013–8. doi:10.1074/jbc.M210077200. PMID 12649290.

External linksEdit

Further readingEdit