V-type proton ATPase subunit H is an enzyme that in humans is encoded by the ATP6V1Hgene.
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.
^Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W (Aug 2000). "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics". Genome Res10 (5): 703–13. doi:10.1101/gr.10.5.703. PMC310876. PMID10810093.
Hu RM, Han ZG, Song HD, et al. (2000). "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning.". Proc. Natl. Acad. Sci. U.S.A.97 (17): 9543–8. doi:10.1073/pnas.160270997. PMC16901. PMID10931946.
Mandic R, Fackler OT, Geyer M, et al. (2001). "Negative factor from SIV binds to the catalytic subunit of the V-ATPase to internalize CD4 and to increase viral infectivity.". Mol. Biol. Cell12 (2): 463–73. PMC30956. PMID11179428.
Geyer M, Yu H, Mandic R, et al. (2002). "Subunit H of the V-ATPase binds to the medium chain of adaptor protein complex 2 and connects Nef to the endocytic machinery.". J. Biol. Chem.277 (32): 28521–9. doi:10.1074/jbc.M200522200. PMID12032142.
Geyer M, Fackler OT, Peterlin BM (2002). "Subunit H of the V-ATPase involved in endocytosis shows homology to beta-adaptins.". Mol. Biol. Cell13 (6): 2045–56. PMC117623. PMID12058068.
Lu M, Vergara S, Zhang L, et al. (2002). "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.". J. Biol. Chem.277 (41): 38409–15. doi:10.1074/jbc.M203521200. PMID12163484.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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): 16899–903. doi:10.1073/pnas.242603899. PMC139241. PMID12477932.