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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ECI1
enoyl-CoA delta isomerase 1
Chromosome 16 · 16p13.3
NCBI Gene: 1632Ensembl: ENSG00000167969.14HGNC: HGNC:2703UniProt: A0A384NKJ3
49PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondriondelta(3)-delta(2)-enoyl-CoA isomerase activityintramolecular oxidoreductase activity, transposing C=C bondsfatty acid beta-oxidationmetabolic syndromehypertriglyceridemia 2Genetic renal or urinary tract malformationneoplasm
✦AI Summary

ECI1 (enoyl-CoA delta isomerase 1) is a mitochondrial enzyme catalyzing a critical step in the β-oxidation of unsaturated fatty acids 1. The enzyme isomerizes both 3-cis and 3-trans double bonds into the 2-trans form in enoyl-CoA species, with preference for 3Z-enoyl-CoAs, facilitating degradation of mono- and polyunsaturated fatty acids 1. ECI1 exhibits functional redundancy with ECI2; mice deficient in ECI1 alone display mild phenotypes with elevated unsaturated acylcarnitines, whereas dual ECI1/ECI2 knockdown causes pronounced metabolic disruption 2. In cancer biology, ECI1 drives aggressive phenotypes: overexpression increases prostate cancer cell growth, motility, and metastatic potential, with ECI1 expression serving as a strong independent predictor of biochemical recurrence (HR: 3.65) and poor overall survival 3. ECI1 supports metastatic progression by enabling cancer cells to process polyunsaturated fatty acids for β-oxidation, creating targetable metabolic dependencies 4. ECI1 expression is dysregulated in premature ovarian insufficiency and diabetic cardiomyopathy, correlating with impaired mitochondrial function and altered immune responses 56. Additionally, ECI1 has been identified as a novel plasma protein associated with glaucoma risk 7. These findings establish ECI1 as both a fundamental metabolic enzyme and an emerging therapeutic target across multiple disease contexts.

Sources cited
1
ECI1 is a key mitochondrial enzyme that catalyzes transformation of 3-cis and 3-trans enoyl-CoA intermediates to 2-trans forms during unsaturated fatty acid β-oxidation
PMID: 7829074
2
ECI1-deficient mice display mild phenotypes with elevated unsaturated acylcarnitines due to functional redundancy with ECI2; dual knockdown causes pronounced accumulation
PMID: 22782973
3
ECI1 overexpression in prostate cancer increases cell growth, motility, mitochondrial respiration, and tumor metastasis; ECI1 expression predicts biochemical recurrence (HR: 3.65) and poor overall survival
PMID: 35411033
4
ECI1 enables metastatic cancer cells to process polyunsaturated fatty acids for β-oxidation, creating metabolic dependencies targetable with ACSL4/ECH1 co-inhibition
PMID: 39591965
5
ECI1 is dysregulated in premature ovarian insufficiency and correlates with mitochondrial dysfunction and altered immune cell profiles
PMID: 39379953
6
ECI1 expression is aberrantly regulated in diabetic cardiomyopathy, contributing to disorders of branched-chain amino acid and fatty acid metabolism
PMID: 39623870
7
ECI1 is identified as a novel plasma protein causally associated with glaucoma through proteome-wide association and Mendelian randomization analyses
PMID: 39408566
Disease Associationsⓘ20
metabolic syndromeOpen Targets
0.07Suggestive
hypertriglyceridemia 2Open Targets
0.04Suggestive
Genetic renal or urinary tract malformationOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
cystic kidney diseaseOpen Targets
0.02Suggestive
posterior cortical atrophyOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
prostate cancerOpen Targets
0.01Suggestive
psoriasisOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
Duane retraction syndromeOpen Targets
0.01Suggestive
glaucomaOpen Targets
0.01Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.01Suggestive
polycystic ovary syndromeOpen Targets
0.01Suggestive
age-related macular degenerationOpen Targets
0.01Suggestive
prostate neoplasmOpen Targets
0.00Suggestive
juvenile dermatomyositisOpen Targets
0.00Suggestive
atrial fibrillationOpen Targets
0.00Suggestive
dilated cardiomyopathyOpen Targets
0.00Suggestive
systemic sclerodermaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ECHDC1Shared pathway100%ECHDC2Shared pathway100%ECH1Shared pathway100%ACOX1Protein interaction100%ECHS1Protein interaction100%ECI2Protein interaction98%
Tissue Expression6 tissues
Liver
100%
Heart
44%
Lung
23%
Ovary
21%
Brain
19%
Bone Marrow
12%
Gene Interaction Network
Click a node to explore
ECI1ECHDC1ECHDC2ECH1ACOX1ECHS1ECI2
PROTEIN STRUCTURE
Preparing viewer…
PDB1SG4 · 1.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.49LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.11 [0.84–1.49]
RankingsWhere ECI1 stands among ~20K protein-coding genes
  • #8,938of 20,598
    Most Researched49
  • #15,082of 17,882
    Most Constrained (LOEUF)1.49
Genes detectedECI1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ACSL4 and polyunsaturated lipids support metastatic extravasation and colonization.
PMID: 39591965
Cell · 2025
1.00
2
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
PMID: 28600779
Hum Genet · 2017
0.90
3
Integrative bioinformatics analysis for identifying the mitochondrial-related gene signature associated with immune infiltration in premature ovarian insufficiency.
PMID: 39379953
BMC Med · 2024
0.80
4
Multi-omics insights into the pathogenesis of diabetic cardiomyopathy: epigenetic and metabolic profiles.
PMID: 39623870
Epigenomics · 2025
0.70
5
Functional redundancy of mitochondrial enoyl-CoA isomerases in the oxidation of unsaturated fatty acids.
PMID: 22782973
FASEB J · 2012
0.60