ATP6V0A2 explained

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.^{[1] [2] [3]}

Function

V-ATPase 116 kDa isoform a2 is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase consists of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain.^[3]

Clinical significance

Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome.^[3]

Further reading

• Nishi T, Forgac M . The vacuolar (H+)-ATPases--nature's most versatile proton pumps . Nat. Rev. Mol. Cell Biol. . 3 . 2 . 94–103 . 2002 . 11836511 . 10.1038/nrm729 . 21122465 . free .
• Kawasaki-Nishi S, Nishi T, Forgac M . Proton translocation driven by ATP hydrolysis in V-ATPases . FEBS Lett. . 545 . 1 . 76–85 . 2003 . 12788495 . 10.1016/S0014-5793(03)00396-X . 10507213 .
• Morel N . Neurotransmitter release: the dark side of the vacuolar-H+ATPase . Biol. Cell . 95 . 7 . 453–457 . 2004 . 14597263 . 10.1016/S0248-4900(03)00075-3 . 17519696 . free .
• Strausberg RL . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–16903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . Feingold EA . Grouse LH . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Smith AN . Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes . Mol. Cell . 12 . 4 . 801–803 . 2003 . 14580332 . 10.1016/S1097-2765(03)00397-6 . Lovering RC . Futai M . Takeda . Jun . Brown . Dennis . Karet . Fiona E . free .
• Ota T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–45 . 2004 . 14702039 . 10.1038/ng1285 . Suzuki Y . Nishikawa T . Otsuki . Tetsuji . Sugiyama . Tomoyasu . Irie . Ryotaro . Wakamatsu . Ai . Hayashi . Koji . Sato . Hiroyuki . free .
• Derks R, Beaman K . Regeneration and tolerance factor modulates the effect of adenosine triphosphate-induced interleukin 1 beta secretion in human macrophages . Hum. Immunol. . 65 . 7 . 676–682 . 2005 . 15301855 . 10.1016/j.humimm.2004.04.006 .
• Derks RA, Beaman KD . Regeneration and tolerance factor prevents bystander T-cell death associated with human immunodeficiency virus infection . Clin. Diagn. Lab. Immunol. . 11 . 5 . 835–840 . 2005 . 15358640 . 10.1128/CDLI.11.5.835-840.2004 . 515283 .
• Lattuada D . The placental immunomodulatory cytokine regeneration and tolerance factor is also expressed by both human cycling and early pregnant endometrium . Am. J. Reprod. Immunol. . 52 . 3 . 224–231 . 2005 . 15373763 . 10.1111/j.1600-0897.2004.00210.x . Mangioni S . Viganò P . Ntrivalas . Evangelos I. . Rossi . Margherita . Palotti . Francesco . Carinelli . Silvestro . Beaman . Kenneth D. . Di Blasio . Anna M. . 31733518 .
• Hurtado-Lorenzo A . V-ATPase interacts with ARNO and Arf6 in early endosomes and regulates the protein degradative pathway . Nat. Cell Biol. . 8 . 2 . 124–136 . 2006 . 16415858 . 10.1038/ncb1348 . Skinner M . El Annan J . Futai . Masamitsu . Sun-Wada . Ge-Hong . Bourgoin . Sylvain . Casanova . James . Wildeman . Alan . Bechoua . Shaliha . 23246611 .
• Olsen JV . Global, in vivo, and site-specific phosphorylation dynamics in signaling networks . Cell . 127 . 3 . 635–648 . 2006 . 17081983 . 10.1016/j.cell.2006.09.026 . Blagoev B . Gnad F . Macek . Boris . Kumar . Chanchal . Mortensen . Peter . Mann . Matthias . 7827573 . free.
• Ntrivalas E, Gilman-Sachs A, Kwak-Kim J, Beaman K . The N-terminus domain of the a2 isoform of vacuolar ATPase can regulate interleukin-1beta production from mononuclear cells in co-culture with JEG-3 choriocarcinoma cells . Am. J. Reprod. Immunol. . 57 . 3 . 201–209 . 2007 . 17295899 . 10.1111/j.1600-0897.2006.00463.x . 37937722 .

External links

• GeneReviews/NCBI/NIH/UW entry on ATP6V0A2-Related Autosomal Recessive Cutis Laxa
• OMIM entries on ATP6V0A2-Related Autosomal Recessive Cutis Laxa

Notes and References

1. Lee C, Ghoshal K, Beaman KD . Cloning of a cDNA for a T cell produced molecule with a putative immune regulatory role . Mol Immunol . 27 . 11 . 1137–1144 . Jan 1991 . 2247090 . 10.1016/0161-5890(90)90102-6 .
2. Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nurnberg P, Foulquier F, Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S . Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 . Nat Genet . 40 . 1 . 32–34 . Dec 2007 . 18157129 . 10.1038/ng.2007.45 . 23318808 .
3. Web site: Entrez Gene: ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2.