ATP6V1A

Gene

ATPase H+ transporting V1 subunit A

HGNCHGNC:851 EnsemblENSG00000114573 NCBI Gene523

Locus: gene with protein productLocation: 3q13.31

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asVPP2 · ATP6A1 · ATP6V1A1 · Vma1 · VA68

View full nomenclature history (9)

Previous symbolsVPP2, ATP6A1, ATP6V1A1

Alias symbolsVma1, VA68

Previous namesATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1, ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A

Alias namesV-ATPase subunit A, V-type proton ATPase (V-ATPase) catalytic subunit A

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Genetic developmental and epileptic encephalopathy

Neurodegenerative Diseases

Alzheimer's Disease

Parkinson's Disease

Lysosomal Storage Diseases

Multiple Sclerosis

Genetic Diseases, Inborn

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

V-type ATPase subunitsATPase F1/V1 alpha/A and beta/B subunit family

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2024-09-16.

Open TargetsGene–disease associations from the Open Targets Platform.