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ATP6V1H
ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H
ATP6V1H is 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.
| Gene Name: | ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H |
| Family/Subfamily: | Transporter , ATPase - V type |
| Synonyms: | ATP6V1H, Nef-binding protein 1, SFD, V-ATPase 50/57 kDa subunits, V-ATPase subunit H, Vacuolar ATPase subunit H, Protein VMA13 homolog, SFDalpha, CGI-11, MSTP042, NBP1, SFDbeta, V-type proton ATPase subunit H, Vacuolar proton pump subunit H, VMA13 |
| Target Sequences: | NM_015941 NP_057025.2 Q9UI12 |
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