ATP6V1H

ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H
Identifiers
Symbols ATP6V1H; MSTP042; NBP1; SFD; SFDalpha; SFDbeta; VMA13
External IDs OMIM608861 MGI1914864 HomoloGene7139 GeneCards: ATP6V1H Gene
EC number 3.6.3.14
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 51606 108664
Ensembl ENSG00000047249 ENSMUSG00000033793
UniProt Q9UI12 Q3U9S9
RefSeq (mRNA) NM_015941.2 NM_133826.4
RefSeq (protein) NP_057025.2 NP_598587.2
Location (UCSC) Chr 8:
54.63 – 54.76 Mb
Chr 1:
5.07 – 5.15 Mb
PubMed search [1] [2]

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

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]

References

Further reading