HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ATP6V0E1
ATPase H+ transporting V0 subunit e1
Chromosome 5 · 5q35.1
NCBI Gene: 8992Ensembl: ENSG00000113732.10HGNC: HGNC:863UniProt: O15342
28PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingproton-transporting ATPase activity, rotational mechanismproton transmembrane transportvacuolar proton-transporting V-type ATPase, V0 domainmultiple myelomacolorectal carcinomadiabetes mellitusparoxysmal tachycardia
✦AI Summary

ATP6V0E1 encodes a critical subunit of the V0 complex of vacuolar H+-ATPase (V-ATPase), which is responsible for lysosomal acidification and maintaining pH homeostasis in intracellular compartments 1. The protein functions as part of the membrane integral V0 complex that translocates protons, working in conjunction with the V1 complex that hydrolyzes ATP. ATP6V0E1 plays essential roles in autophagy-lysosomal pathway function, with its expression regulated by transcription factors including FOXA2 and PPARA 21. The gene's expression can be enhanced through ac4C mRNA modifications by NAT10, which increases translation efficiency and promotes lysosomal acidification 3. ATP6V0E1 has significant disease relevance, particularly in cancer where it acts as a tumor suppressor target - knockdown of ATP6V0E1 mimics tumor suppressive effects in pancreatic ductal adenocarcinoma cells 4. The protein is also implicated in esophageal cancer metastasis through enhanced lysosomal degradation of E-cadherin 3. Additionally, ATP6V0E1 serves as a biomarker component in rheumatoid arthritis scoring systems and is associated with photoreceptor dysfunction in inherited retinal diseases 56. These findings establish ATP6V0E1 as a crucial regulator of cellular pH homeostasis with broad implications for disease pathogenesis and potential therapeutic targeting.

Sources cited
1
ATP6V0E1 is a V-ATPase subunit involved in lysosomal acidification, regulated by PPARA in Alzheimer's disease context
PMID: 40719096
2
FOXA2-mediated ATP6V0E1 transcription is crucial for V-ATPase activity and autophagy function in colitis-associated carcinogenesis
PMID: 40205686
3
NAT10 promotes ATP6V0E1 mRNA translation through ac4C modifications, enhancing lysosomal acidification in esophageal cancer metastasis
PMID: 40729677
4
ATP6V0E1 knockdown mimics tumor suppressive effects in pancreatic ductal adenocarcinoma cells
PMID: 35182679
5
ATP6V0E1 is part of a 13-gene biomarker panel for rheumatoid arthritis diagnosis and disease activity monitoring
PMID: 34177888
6
ATP6V0E1 is implicated in photoreceptor dysfunction and inherited retinal diseases
PMID: 38961727
Disease Associationsⓘ20
multiple myelomaOpen Targets
0.18Weak
colorectal carcinomaOpen Targets
0.15Weak
diabetes mellitusOpen Targets
0.13Weak
paroxysmal tachycardiaOpen Targets
0.05Suggestive
esophageal squamous cell carcinomaOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
cancerOpen Targets
0.02Suggestive
head and neck squamous cell carcinomaOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
insulinomaOpen Targets
0.01Suggestive
rheumatoid arthritisOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.00Suggestive
glioblastoma multiformeOpen Targets
0.00Suggestive
immune system diseaseOpen Targets
0.00Suggestive
infectious diseaseOpen Targets
0.00Suggestive
non-small cell lung carcinomaOpen Targets
0.00Suggestive
ulcerative colitisOpen Targets
0.00Suggestive
astrocytomaOpen Targets
0.00Suggestive
relapsing-remitting multiple sclerosisOpen Targets
0.00Suggestive
Townes-Brocks syndromeOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ATP6V1HProtein interaction100%ATP6V1FProtein interaction100%ATP6V0D1Protein interaction100%ATP6V1G1Protein interaction100%ATP5MC2Protein interaction100%ATP6V1AProtein interaction100%
Tissue Expression6 tissues
Lung
100%
Heart
71%
Liver
60%
Ovary
52%
Brain
42%
Bone Marrow
19%
Gene Interaction Network
Click a node to explore
ATP6V0E1ATP6V1HATP6V1FATP6V0D1ATP6V1G1ATP5MC2ATP6V1A
PROTEIN STRUCTURE
Preparing viewer…
PDB6WLW · 3.00 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.86LoF Tolerant
pLIⓘ
0.42Tolerant
Observed/Expected LoF0.38 [0.18–0.86]
RankingsWhere ATP6V0E1 stands among ~20K protein-coding genes
  • #12,308of 20,598
    Most Researched28
  • #7,522of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedATP6V0E1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Capsaicin Alleviates Autophagy-Lysosomal Dysfunction via PPARA-Mediated V-ATPase Subunit ATP6V0E1 Signaling in 3xTg-AD Mice.
PMID: 40719096
Adv Sci (Weinh) · 2025
1.00
2
Neutrophil-derived serine proteases induce FOXA2-mediated autophagy dysfunction and exacerbate colitis-associated carcinogenesis via protease activated receptor 2.
PMID: 40205686
Autophagy · 2025
0.90
3
NAT10 Increases Lysosomal Acidification to Promote Esophageal Cancer Metastasis via ac4C Acetylation of ATP6V0E1 mRNA.
PMID: 40729677
Adv Sci (Weinh) · 2025
0.80
4
Transcriptomic and functional studies reveal miR-431-5p as a tumour suppressor in pancreatic ductal adenocarcinoma cells.
PMID: 35182679
Gene · 2022
0.70
5
Targeting Relevant HDACs to Support the Survival of Cone Photoreceptors in Inherited Retinal Diseases: Identification of a Potent Pharmacological Tool with In Vitro and In Vivo Efficacy.
PMID: 38961727
J Med Chem · 2024
0.60