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ATP6V1A

Chr 3q13.31

ATPase H+ transporting V1 subunit A

Aliases:
Vma1, VA68
MANE:
ENST00000273398.8
OMIM: 607027 ↗NCBI: 523 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Early onset or syndromic epilepsy

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Ehlers Danlos syndrome with a likely monogenic cause

    BIALLELIC, autosomal or pseudoautosomal

  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • genetic developmental and epileptic encephalopathy

    0.74

  • developmental and epileptic encephalopathy 93

    0.70

  • neurodegenerative disease

    0.57

  • Alzheimer disease

    0.52

  • Parkinson disease

    0.50

  • lysosomal storage disease

    0.50

  • multiple sclerosis

    0.50

  • autosomal recessive cutis laxa type 2

    0.47

  • hereditary disease

    0.38

  • cutis laxa

    0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

V-type proton ATPase catalytic subunit A

Catalytic subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:8463241, PubMed:22053050). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it promotes acidification of the extracellular environment (PubMed:32001091). The V-ATPase complex also acts as an activator for mTORC1 on lysosomal membrane by promoting the guanine nucleotide exchange factor (GEF) of the Ragulator complex, thereby enabling mTORC1 recruitment (PubMed:22053050). In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633). May play a role in neurite development and synaptic connectivity (PubMed:29668857)

Diseases associated with ATP6V1A

Curated MONDO disease pages that list ATP6V1A among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.