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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ECH1
enoyl-CoA hydratase 1
Chromosome 19 · 19q13.2
NCBI Gene: 1891Ensembl: ENSG00000104823.10HGNC: HGNC:3149UniProt: A0A384MR44
106PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionmembraneextracellular exosomeprotein bindingdecubitus ulcerglioblastoma multiformedementianeurodegenerative disease
✦AI Summary

ECH1 (enoyl-CoA hydratase 1) is a mitochondrial enzyme that catalyzes the isomerization of 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA, a crucial step in the β-oxidation of unsaturated fatty acids with double bonds at odd positions 12. The enzyme functions as a delta(3,5)-delta(2,4)-dienoyl-CoA isomerase, preparing unsaturated fatty acids for mitochondrial β-oxidation 12. ECH1's activity is regulated by TRAF3-mediated K63-linked ubiquitination at Lys214, which impedes its mitochondrial translocation and affects polyunsaturated fatty acid oxidation 2. The enzyme exhibits genetic polymorphism in humans, with two allelic variants differing in amino acid substitution (41 E→A) 3. ECH1 plays protective roles in multiple diseases: it alleviates nonalcoholic steatohepatitis by suppressing hepatic ferroptosis through inhibition of lipid peroxidation 4, reduces aortic valve calcification by suppressing Runx2 via Wnt5a/Ca2+ signaling 5, and acts as a tumor suppressor in hepatocellular carcinoma lymphatic metastasis 6. ECH1 deficiency creates metabolic vulnerabilities in metastatic cancer cells, making it a potential therapeutic target 1. Its expression is altered in various pathological conditions, suggesting roles beyond fatty acid metabolism in cellular stress responses and disease progression.

Sources cited
1
ECH1 (enoyl-CoA hydratase 1) is a mitochondrial enzyme that catalyzes the isomerization of 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA, a crucial step in the β-oxidation of unsaturated fatty acids with double bonds at odd positions .
PMID: 39591965
2
ECH1 (enoyl-CoA hydratase 1) is a mitochondrial enzyme that catalyzes the isomerization of 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA, a crucial step in the β-oxidation of unsaturated fatty acids with double bonds at odd positions .
PMID: 39932808
3
The enzyme exhibits genetic polymorphism in humans, with two allelic variants differing in amino acid substitution (41 E→A) .
PMID: 16615866
4
ECH1 plays protective roles in multiple diseases: it alleviates nonalcoholic steatohepatitis by suppressing hepatic ferroptosis through inhibition of lipid peroxidation , reduces aortic valve calcification by suppressing Runx2 via Wnt5a/Ca2+ signaling , and acts as a tumor suppressor in hepatocellular carcinoma lymphatic metastasis .
PMID: 33813878
5
ECH1 plays protective roles in multiple diseases: it alleviates nonalcoholic steatohepatitis by suppressing hepatic ferroptosis through inhibition of lipid peroxidation , reduces aortic valve calcification by suppressing Runx2 via Wnt5a/Ca2+ signaling , and acts as a tumor suppressor in hepatocellular carcinoma lymphatic metastasis .
PMID: 38946717
6
ECH1 plays protective roles in multiple diseases: it alleviates nonalcoholic steatohepatitis by suppressing hepatic ferroptosis through inhibition of lipid peroxidation , reduces aortic valve calcification by suppressing Runx2 via Wnt5a/Ca2+ signaling , and acts as a tumor suppressor in hepatocellular carcinoma lymphatic metastasis .
PMID: 23809371
Disease Associationsⓘ20
decubitus ulcerOpen Targets
0.08Suggestive
glioblastoma multiformeOpen Targets
0.08Suggestive
dementiaOpen Targets
0.06Suggestive
neurodegenerative diseaseOpen Targets
0.05Suggestive
heart failureOpen Targets
0.03Suggestive
liver dysplastic noduleOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.02Suggestive
aortic valve diseaseOpen Targets
0.02Suggestive
bronchopulmonary dysplasiaOpen Targets
0.02Suggestive
amputationOpen Targets
0.02Suggestive
non-alcoholic steatohepatitisOpen Targets
0.02Suggestive
strokeOpen Targets
0.02Suggestive
laryngotracheoesophageal cleftOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
diabetic nephropathyOpen Targets
0.01Suggestive
gliomaOpen Targets
0.01Suggestive
atherosclerosisOpen Targets
0.01Suggestive
prostate cancerOpen Targets
0.01Suggestive
dilated cardiomyopathyOpen Targets
0.01Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ECI1Shared pathway100%ECHDC1Shared pathway100%ECHDC2Shared pathway100%HSD17B4Protein interaction95%ECI2Protein interaction92%PEX5Protein interaction90%
Tissue Expression6 tissues
Liver
100%
Heart
59%
Lung
25%
Brain
21%
Ovary
18%
Bone Marrow
10%
Gene Interaction Network
Click a node to explore
ECH1ECI1ECHDC1ECHDC2HSD17B4ECI2PEX5
PROTEIN STRUCTURE
Preparing viewer…
PDB2VRE · 1.95 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.08LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.81 [0.61–1.08]
RankingsWhere ECH1 stands among ~20K protein-coding genes
  • #4,473of 20,598
    Most Researched106 · top quartile
  • #11,013of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedECH1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ACSL4 and polyunsaturated lipids support metastatic extravasation and colonization.
PMID: 39591965
Cell · 2025
1.00
2
TRAF3 loss protects glioblastoma cells from lipid peroxidation and immune elimination via dysregulated lipid metabolism.
PMID: 39932808
J Clin Invest · 2025
0.90
3
Enoyl coenzyme A hydratase 1 alleviates nonalcoholic steatohepatitis in mice by suppressing hepatic ferroptosis.
PMID: 33813878
Am J Physiol Endocrinol Metab · 2021
0.80
4
Polymorphism of delta3,5-delta2,4-dienoyl-coenzyme A isomerase (the ECH1 gene product protein) in human striated muscle tissue.
PMID: 16615866
Biochemistry (Mosc) · 2006
0.70
5
Enoyl coenzyme a hydratase 1 attenuates aortic valve calcification by suppressing Runx2 via Wnt5a/Ca
PMID: 38946717
J Cell Commun Signal · 2024
0.60