ATP6V1E1

Chr 22q11.21

ATPase H+ transporting V1 subunit E1

Aliases:: P31, Vma4, ATP6E2
MANE:: ENST00000253413.10

OMIM: 108746 ↗NCBI: 529 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ATP6V1E1 · P36543

v62025-08-01

Predicted Aligned Error matrix for ATP6V1E1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

94.9/ 100

Very high

226 residues

Confidence breakdown

Very high(≥ 90)94%
Confident(70–90)4%
Low(50–70)1%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegenerative disease
0.48
cutis laxa
0.46
autosomal recessive cutis laxa type 2
0.38
autosomal recessive cutis laxa type 2, classic type
0.37
eye disorder
0.28
placenta praevia
0.25
chronic obstructive pulmonary disease
0.07
hepatocellular carcinoma
0.05
sign or symptom
0.04
alcohol drinking
0.04

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

Protein function (UniProt)

V-type proton ATPase subunit E 1

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:32001091, PubMed:33065002). 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, PubMed:39695235)