ATP6V1H explained

V-type proton ATPase subunit H is an enzyme that in humans is encoded by the ATP6V1H gene.^{[1] [2] [3]}

Function

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 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. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes the regulatory H subunit of the V1 domain which is required for catalysis of ATP but not the assembly of V-ATPase. Three alternatively spliced transcript variants encode two isoforms of the H subunit.^[3]

Further reading

• Stevens TH, Forgac M . Structure, function and regulation of the vacuolar (H+)-ATPase . Annual Review of Cell and Developmental Biology . 13 . 779–808 . 1998 . 9442887 . 10.1146/annurev.cellbio.13.1.779 .
• Geyer M, Fackler OT, Peterlin BM . Structure--function relationships in HIV-1 Nef . EMBO Reports . 2 . 7 . 580–5 . Jul 2001 . 11463741 . 1083955 . 10.1093/embo-reports/kve141 .
• Nishi T, Forgac M . The vacuolar (H+)-ATPases--nature's most versatile proton pumps . Nature Reviews Molecular Cell Biology . 3 . 2 . 94–103 . Feb 2002 . 11836511 . 10.1038/nrm729 . 21122465 .
• Pedersen PL . Transport ATPases in biological systems and relationship to human disease: a brief overview . Journal of Bioenergetics and Biomembranes . 34 . 5 . 327–32 . Oct 2002 . 12539959 . 10.1023/A:1021249701287 . 38318926 .
• Kawasaki-Nishi S, Nishi T, Forgac M . Proton translocation driven by ATP hydrolysis in V-ATPases . FEBS Letters . 545 . 1 . 76–85 . Jun 2003 . 12788495 . 10.1016/S0014-5793(03)00396-X . 10507213 .
• Morel N . Neurotransmitter release: the dark side of the vacuolar-H+ATPase . Biology of the Cell . 95 . 7 . 453–7 . Oct 2003 . 14597263 . 10.1016/S0248-4900(03)00075-3 . 17519696 . free .
• Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH, Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM, Huang GY, Chen Z, Chen MD, Chen JL . Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning . Proceedings of the National Academy of Sciences of the United States of America . 97 . 17 . 9543–8 . Aug 2000 . 10931946 . 16901 . 10.1073/pnas.160270997 . 2000PNAS...97.9543H . free .
• Mandic R, Fackler OT, Geyer M, Linnemann T, Zheng YH, Peterlin BM . Negative factor from SIV binds to the catalytic subunit of the V-ATPase to internalize CD4 and to increase viral infectivity . Molecular Biology of the Cell . 12 . 2 . 463–73 . Feb 2001 . 11179428 . 30956 . 10.1091/mbc.12.2.463 .
• Geyer M, Yu H, Mandic R, Linnemann T, Zheng YH, Fackler OT, Peterlin BM . Subunit H of the V-ATPase binds to the medium chain of adaptor protein complex 2 and connects Nef to the endocytic machinery . The Journal of Biological Chemistry . 277 . 32 . 28521–9 . Aug 2002 . 12032142 . 10.1074/jbc.M200522200 . free .
• Geyer M, Fackler OT, Peterlin BM . Subunit H of the V-ATPase involved in endocytosis shows homology to beta-adaptins . Molecular Biology of the Cell . 13 . 6 . 2045–56 . Jun 2002 . 12058068 . 117623 . 10.1091/mbc.02-02-0026 .
• Lu M, Vergara S, Zhang L, Holliday LS, Aris J, Gluck SL . The amino-terminal domain of the E subunit of vacuolar H(+)-ATPase (V-ATPase) interacts with the H subunit and is required for V-ATPase function . The Journal of Biological Chemistry . 277 . 41 . 38409–15 . Oct 2002 . 12163484 . 10.1074/jbc.M203521200 . free .
• Smith AN, Lovering RC, Futai M, Takeda J, Brown D, Karet FE . Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes . Molecular Cell . 12 . 4 . 801–3 . Oct 2003 . 14580332 . 10.1016/S1097-2765(03)00397-6 . free .

Notes and References

1. Lu X, Yu H, Liu SH, Brodsky FM, Peterlin BM . Interactions between HIV1 Nef and vacuolar ATPase facilitate the internalization of CD4 . Immunity . 8 . 5 . 647–56 . May 1998 . 9620685 . 10.1016/S1074-7613(00)80569-5 . free .
2. Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W . Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics . Genome Research . 10 . 5 . 703–13 . May 2000 . 10810093 . 310876 . 10.1101/gr.10.5.703 .
3. Web site: Entrez Gene: ATP6V1H ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H.