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 sort
miRNAmiRNA information provided by mirtarbase database.
Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
V-type proton ATPase subunit e 1 (V-ATPase subunit e 1) (V-ATPase 9.2 kDa membrane accessory protein) (V-ATPase M9.2 subunit) (Vacuolar proton pump subunit e 1)
Protein function
Subunit of the V0 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:33065002). V-ATPase is responsibl
Evidence Score:★☆☆☆☆ Gene-disease association found in Text Mining only★★☆☆☆ Found in Text Mining and Unknown/Other Associations★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations
ClinVar entries with uncertain/conflicting evidence, and associations from other databases
(OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
["Oxidative phosphorylation","Phagosome","Synaptic vesicle cycle","Collecting duct acid secretion","Vibrio cholerae infection","Epithelial cell signaling in Helicobacter pylori infection","Rheumatoid arthritis","ROS and RNS production in phagocytes","Insulin receptor recycling","Transferrin endocytosis and recycling","Amino acids regulate mTORC1","Ion channel transport"]
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Diseases Linked via Similar GenesDiseases curated for genes most similar to ATP6V0E1 (see Related Genes above), that are NOT already directly curated for ATP6V0E1 itself -- a lead worth checking, not a confirmed association.