ATP6V1E1

Chr 22

ATPase H+ transporting V1 subunit E1

Also known as: ARCL2C, ATP6E, ATP6E2, ATP6V1E, P31, Vma4

NCBI Gene: 529 ENSG00000131100 UniProt: P36543

This gene encodes the E subunit of the V1 complex of vacuolar ATPase, a multisubunit enzyme that acidifies intracellular compartments by hydrolyzing ATP to translocate protons across membranes. Mutations cause autosomal recessive cutis laxa type IIC, a connective tissue disorder. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.514), suggesting some intolerance to complete protein loss.

ResearchSummary from RefSeq, OMIM, UniProt

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, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCutis laxa, autosomal recessive, 2C

Clinical highlights

Gene-disease validity (ClinGen)

autosomal recessive cutis laxa type 2C · ARLimitednot for standalone diagnostic reporting

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.51

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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