ATP6V1H

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]

Description

ATPase H+ transporting V1 subunit H

Tissue specificity

Low tissue specificity

Subcell location

Plasma membrane, Actin filaments, Cytosol

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

8 (53715543 - 53843558)

Ensembl ID

ENSG00000047249  (ver. 103.38)

Orthologs

Mouse Atp6v1h: ENSMUSG00000033793

UniProt

Q9UI12

neXtProt

NX_Q9UI12

Human splice variants
Mouse splice variants

Protein structure