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GeneE
7 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ATP5ME
ATP synthase membrane subunit e
Chromosome 4 · 4p16.3
NCBI Gene: 521Ensembl: ENSG00000169020.11HGNC: HGNC:846UniProt: P56385
82PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
proton-transporting ATP synthase complexproton motive force-driven mitochondrial ATP synthesisproton-transporting ATP synthase activity, rotational mechanismprotein bindingretinitis pigmentosaAbnormality of the skeletal systempyogenic granulomaneoplasm
✦AI Summary

ATP5ME encodes the membrane subunit e of mitochondrial ATP synthase (Complex V), a key component of the F₀ domain that couples proton translocation across the inner mitochondrial membrane to ATP synthesis 1. The protein functions as part of the proton-transporting ATP synthase complex, which generates ATP from ADP using the proton gradient established by the electron transport chain 1. ATP5ME is part of the membrane domain that links to the soluble catalytic F₁ head via rotating central and stationary peripheral stalks 1. Clinically, ATP5ME expression is dysregulated in multiple disease contexts. It is significantly upregulated in multiple myeloma plasma cells compared to healthy plasma cells, suggesting a role in cancer cell metabolism 2. ATP5ME was identified as a core gene in atherosclerosis and venous thrombosis pathology, where it participates in oxidative phosphorylation and mitochondrial function 3. In cardiac hypertrophy, restoring ATP5ME expression through miRNA inhibition contributes to cardioprotective effects by improving mitochondrial membrane potential and oxidative phosphorylation 4. Additionally, ATP5ME was identified in a genomic deletion associated with recessive retinal degeneration 5, and its downregulation correlates with multidrug resistance in chr4 myeloid leukemia through epigenetic mechanisms 6. ATP5ME overexpression in hepatocellular carcinoma promotes cell proliferation via MAP kinase signaling, making it a potential therapeutic target 7.

Sources cited
1
ATP5ME is subunit e of mitochondrial ATP synthase complex, part of F₀ membrane domain, involved in coupling proton translocation to ATP synthesis via rotary mechanism
PMID: 37244256
2
ATP5ME is highly expressed in multiple myeloma malignant plasma cells compared to healthy plasma cells
PMID: 35276027
3
ATP5ME identified as core gene in atherosclerosis and venous thrombosis, involved in oxidative phosphorylation and mitochondrial inner membrane function
PMID: 37986300
4
ATP5ME expression restoration improves mitochondrial membrane potential and oxidative phosphorylation in cardiac hypertrophy treatment
PMID: 40551059
5
ATP5ME identified in novel 7.5-kb genomic deletion associated with recessive retinal degeneration
PMID: 36376065
6
ATP5ME downregulation through promoter hypermethylation associates with multidrug resistance in chronic myeloid leukemia
PMID: 20038517
7
ATP synthase subunit e is overexpressed in hepatocellular carcinoma and promotes cell proliferation through MAP kinase pathway
PMID: 11939412
Disease Associationsⓘ20
retinitis pigmentosaOpen Targets
0.33Weak
Abnormality of the skeletal systemOpen Targets
0.04Suggestive
pyogenic granulomaOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.02Suggestive
chronic kidney diseaseOpen Targets
0.02Suggestive
sarcomaOpen Targets
0.01Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
atherosclerosisOpen Targets
0.00Suggestive
experimental autoimmune encephalomyelitisOpen Targets
0.00Suggestive
leukemiaOpen Targets
0.00Suggestive
myocarditisOpen Targets
0.00Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.00Suggestive
preeclampsiaOpen Targets
0.00Suggestive
schizoaffective disorderOpen Targets
0.00Suggestive
schizophreniaOpen Targets
0.00Suggestive
type 2 diabetes mellitusOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NDUFB5Protein interaction100%NDUFA13Protein interaction100%NDUFB3Protein interaction100%NDUFA5Protein interaction100%NDUFB11Protein interaction100%NDUFA6Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Liver
87%
Brain
78%
Ovary
43%
Lung
42%
Bone Marrow
26%
Gene Interaction Network
Click a node to explore
ATP5MENDUFB5NDUFA13NDUFB3NDUFA5NDUFB11NDUFA6
PROTEIN STRUCTURE
Preparing viewer…
PDB8H9S · 2.53 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.61LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.96 [0.59–1.61]
RankingsWhere ATP5ME stands among ~20K protein-coding genes
  • #5,775of 20,598
    Most Researched82
  • #15,700of 17,882
    Most Constrained (LOEUF)1.61
Genes detectedATP5ME
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Highly expressed genes in multiple myeloma cells - what can they tell us about the disease?
PMID: 35276027
Eur J Haematol · 2022
1.00
2
NDUFB11 and NDUFS3 regulate arterial atherosclerosis and venous thrombosis: Potential markers of atherosclerosis and venous thrombosis.
PMID: 37986300
Medicine (Baltimore) · 2023
0.86
3
Identification of a novel large multigene deletion and a frameshift indel in
PMID: 36376065
Cold Spring Harb Mol Case Stud · 2022
0.71
4
Investigating the Therapeutic Potential of miRNA-137-3p/383-5p/PGC-1α Signalling Nexus Against Cardiac Hypertrophy.
PMID: 40551059
J Cardiovasc Transl Res · 2025
0.57
5
Age-related changes in the mitochondria of human mural granulosa cells.
PMID: 29045673
Hum Reprod · 2017
0.43