ATP6V1H, Official Symbol ATP6V1Hprovided by HGNC Official Full Name ATPase H+ transporting V1 subunit Hprovided by HGNC Primary source HGNC:HGNC:18303 See related Ensembl:ENSG00000047249 MIM:608861; AllianceGenome:HGNC:18303 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SFD; NBP1; VMA13; CGI-11; MSTP042; SFDbeta; SFDalpha Summary This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] Expression Ubiquitous expression in brain (RPKM 40.0), kidney (RPKM 25.7) and 25 other tissues See more Orthologs mouse all