ATP6V0A4

Last updated
ATP6V0A4
Identifiers
Aliases ATP6V0A4 , A4, ATP6N1B, ATP6N2, RDRTA2, RTA1C, RTADR, STV1, VPH1, VPP2, ATPase H+ transporting V0 subunit a4, DRTA3
External IDs OMIM: 605239 MGI: 2153480 HomoloGene: 39904 GeneCards: ATP6V0A4
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 Mb Chr 6: 38.03 – 38.1 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]

Contents

Function

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]

Interactions

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

Related Research Articles

<span class="mw-page-title-main">V-ATPase</span> Family of transport protein complexes

Vacuolar-type ATPase (V-ATPase) is a highly conserved evolutionarily ancient enzyme with remarkably diverse functions in eukaryotic organisms. V-ATPases acidify a wide array of intracellular organelles and pumps protons across the plasma membranes of numerous cell types. V-ATPases couple the energy of ATP hydrolysis to proton transport across intracellular and plasma membranes of eukaryotic cells. It is generally seen as the polar opposite of ATP synthase because ATP synthase is a proton channel that uses the energy from a proton gradient to produce ATP. V-ATPase however, is a proton pump that uses the energy from ATP hydrolysis to produce a proton gradient.

<span class="mw-page-title-main">ATP6V1B1</span>

V-type proton ATPase subunit B, kidney isoform is an enzyme that in humans is encoded by the ATP6V1B1 gene.

<span class="mw-page-title-main">ATP6V1E1</span>

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

<span class="mw-page-title-main">ATP6V0C</span>

V-type proton ATPase 16 kDa proteolipid subunit is an enzyme that in humans is encoded by the ATP6V0C gene.

<span class="mw-page-title-main">ATP6V1B2</span>

V-type proton ATPase subunit B, brain isoform is an enzyme that in humans is encoded by the ATP6V1B2 gene.

<span class="mw-page-title-main">ATP6AP1</span> Protein-coding gene in the species Homo sapiens

The human gene ATP6AP1 encodes the S1 subunit of the enzyme V-type proton ATPase.

<span class="mw-page-title-main">ATP6V1C1</span>

V-type proton ATPase subunit C 1 is an enzyme that in humans is encoded by the ATP6V1C1 gene.

<span class="mw-page-title-main">ATPase, H+ transporting, lysosomal V0 subunit a1</span> Protein-coding gene in the species Homo sapiens

V-type proton ATPase 116 kDa subunit a isoform 1 is an enzyme that in humans is encoded by the ATP6V0A1 gene.

<span class="mw-page-title-main">ATP6V1A</span> Protein-coding gene in the species Homo sapiens

V-type proton ATPase catalytic subunit A is an enzyme that in humans is encoded by the ATP6V1A gene.

<span class="mw-page-title-main">ATP6V0D1</span>

V-type proton ATPase subunit d 1 is an enzyme that in humans is encoded by the ATP6V0D1 gene.

<span class="mw-page-title-main">ATP6V1G2</span> Protein-coding gene in Homo sapiens

V-type proton ATPase subunit G 2 is an enzyme that in humans is encoded by the ATP6V1G2 gene.

<span class="mw-page-title-main">ATP6V1H</span>

V-type proton ATPase subunit H is an enzyme that in humans is encoded by the ATP6V1H gene.

<span class="mw-page-title-main">ATP6V1G1</span> Protein-coding gene in the species Homo sapiens

V-type proton ATPase subunit G 1 is an enzyme that in humans is encoded by the ATP6V1G1 gene.

<span class="mw-page-title-main">ATP6V1D</span> Protein-coding gene in the species Homo sapiens

V-type proton ATPase subunit D is an enzyme that in humans is encoded by the ATP6V1D gene.

<span class="mw-page-title-main">ATP6V1F</span> Protein-coding gene in the species Homo sapiens

V-type proton ATPase subunit F is an enzyme that in humans is encoded by the ATP6V1F gene.

<span class="mw-page-title-main">ATP6V1G3</span> Protein-coding gene in the species Homo sapiens

V-type proton ATPase subunit G 3 is an enzyme that in humans is encoded by the ATP6V1G3 gene.

<span class="mw-page-title-main">ATP6V0B</span> Protein-coding gene in Homo sapiens

V-type proton ATPase 21 kDa proteolipid subunit is an enzyme that in humans is encoded by the ATP6V0B gene.

<span class="mw-page-title-main">ATP6V0E1</span> Protein-coding gene in the species Homo sapiens

V-type proton ATPase subunit e 1 is an enzyme that in humans is encoded by the ATP6V0E1 gene.

<span class="mw-page-title-main">ATP6V0A2</span> Protein-coding gene in the species Homo sapiens

V-type proton ATPase 116 kDa subunit a isoform 2 also known as V-ATPase 116 kDa isoform a2 is an enzyme that in humans is encoded by the ATP6V0A2 gene.

<span class="mw-page-title-main">ATP6V1C2</span>

V-type proton ATPase subunit C 2 is an enzyme that in humans is encoded by the ATP6V1C2 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000105929 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000038600 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  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.
  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. S2CID   19880326.
  7. 1 2 "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.

Further reading