ATP6V0A4

From Wikipedia, the free encyclopedia
Jump to: navigation, search
ATPase, H+ transporting, lysosomal V0 subunit a4
Identifiers
Symbols ATP6V0A4 ; A4; ATP6N1B; ATP6N2; RDRTA2; RTA1C; RTADR; STV1; VPH1; VPP2
External IDs OMIM605239 MGI2153480 HomoloGene39904 GeneCards: ATP6V0A4 Gene
EC number 3.6.3.14
RNA expression pattern
PBB GE ATP6V0A4 220197 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 50617 140494
Ensembl ENSG00000105929 ENSMUSG00000038600
UniProt Q9HBG4 Q920R6
RefSeq (mRNA) NM_020632 NM_080467
RefSeq (protein) NP_065683 NP_536715
Location (UCSC) Chr 7:
138.39 – 138.48 Mb
Chr 6:
38.05 – 38.12 Mb
PubMed search [1] [2]

V-type proton ATPase 116 kDa subunit a isoform 4 is an enzyme that in humans is encoded by the ATP6V0A4 gene.[1][2][3]

Function[edit]

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.[3]

Interactions[edit]

ATP6V0A4 has been shown to interact with PFKM.[4]

References[edit]

  1. ^ Karet FE, Finberg KE, Nayir A, Bakkaloglu A, Ozen S, Hulton SA et al. (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. 
  2. ^ Smith AN, Skaug J, Choate KA, Nayir A, Bakkaloglu A, Ozen S et al. (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. 
  3. ^ a b "Entrez Gene: ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4". 
  4. ^ 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. 

Further reading[edit]