ECI1 (enoyl-CoA delta isomerase 1)

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Gene Gene information from NCBI Gene database.
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Entrez ID 1632
Gene name Enoyl-CoA delta isomerase 1
Gene symbol ECI1
Synonyms (NCBI Gene)
DCI
Chromosome 16
Chromosome location 16p13.3
Summary This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising durin
miRNA miRNA information provided by mirtarbase database.
2
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miRTarBase ID miRNA Experiments Reference
MIRT020571 hsa-miR-155-5p Proteomics 18668040
MIRT050587 hsa-miR-20a-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0004165 Function Delta(3)-delta(2)-enoyl-CoA isomerase activity IBA
GO:0004165 Function Delta(3)-delta(2)-enoyl-CoA isomerase activity IEA
GO:0004165 Function Delta(3)-delta(2)-enoyl-CoA isomerase activity ISS
GO:0004165 Function Delta(3)-delta(2)-enoyl-CoA isomerase activity NAS 7818490, 7829074
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
600305 2703 ENSG00000167969
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P42126
Protein name Enoyl-CoA delta isomerase 1, mitochondrial (EC 5.3.3.8) (3,2-trans-enoyl-CoA isomerase) (Delta(3),Delta(2)-enoyl-CoA isomerase) (D3,D2-enoyl-CoA isomerase) (Dodecenoyl-CoA isomerase)
Protein function Key enzyme of fatty acid beta-oxidation (Probable). Able to isomerize both 3-cis (3Z) and 3-trans (3E) double bonds into the 2-trans (2E) form in a range of enoyl-CoA species, with a preference for (3Z)-enoyl-CoAs over (3E)-enoyl-CoAs (By simila
PDB 1SG4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00378 ECH_1 52 → 301 Enoyl-CoA hydratase/isomerase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in liver (at protein level). {ECO:0000269|PubMed:7818490}.
Sequence 
MALVASVRVPARVLLRAGARLPGAALGRTERAAGGGDGARRFGSQRVLVEPDAGAGVAVM
KFKNPPVNSLSLEFLTELVISLEKLENDKSFRGVILTSDRPGVFSAGLDLTEMCGRSPAH
YAGYWKAVQELWLRLYQSNLVLVSAINGACPAGGCLVALTCDYRILADNPRYCIGLNETQ
LGIIAPFWLKDTLENTIGHRAAERALQLGLLFPPAEALQVGIVDQVVPEEQVQSTALSAI
AQWMAIPDHARQLTKAMMRKATASRLVTQRDADVQNFVSFISKDSIQKSLQMYLERLKEE
KG
Sequence length 302
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway Reactome Pathway
Fatty acid degradation mitochondrial fatty acid beta-oxidation of unsaturated fatty acids
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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.
Phenotype Name Clinical Significance Source Reference Evidence Score
Complex I deficiency Benign ClinVar —
★★★★★
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Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (13)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 21917952, 37957550 Associate
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Found in Text Mining only
Cardiomyopathy, Familial Idiopathic Cardiomyopathy BEFREE 22252965
★★★★★
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Found in Text Mining only
Deglutition Disorders Dysphagia BEFREE 27753176
★★★★★
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Found in Text Mining only
Esophageal Achalasia Achalasia BEFREE 30805798
★★★★★
★☆☆☆☆
Found in Text Mining only
Gastroesophageal reflux disease Gastroesophageal Reflux Disease BEFREE 30225739, 31844179
★★★★★
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Found in Text Mining only
Hepatitis C Hepatitis c Pubtator 21917952 Associate
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Found in Text Mining only
Hiatal Hernia Hiatal Hernia BEFREE 31844179
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Found in Text Mining only
Hydrocephalus Hydrocephalus BEFREE 31432283
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Found in Text Mining only
Noninfiltrating Intraductal Carcinoma Ductal carcinoma BEFREE 22252965
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Found in Text Mining only
Peptic Esophagitis Peptic Esophagitis BEFREE 30225739
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Found in Text Mining only
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ACADL 2 shared pathwaysFatty acid degradation, mitochondrial fatty acid beta-oxidation of unsaturated fatty acids Related via 2 shared pathways including Fatty acid degradation, mitochondrial fatty acid beta-oxidation of unsaturated fatty acids. ACADM 2 shared pathwaysFatty acid degradation, mitochondrial fatty acid beta-oxidation of unsaturated fatty acids Related via 2 shared pathways including Fatty acid degradation, mitochondrial fatty acid beta-oxidation of unsaturated fatty acids. HADHB 2 shared pathwaysFatty acid degradation, mitochondrial fatty acid beta-oxidation of unsaturated fatty acids Related via 2 shared pathways including Fatty acid degradation, mitochondrial fatty acid beta-oxidation of unsaturated fatty acids. HADHA 2 shared pathwaysFatty acid degradation, mitochondrial fatty acid beta-oxidation of unsaturated fatty acids Related via 2 shared pathways including Fatty acid degradation, mitochondrial fatty acid beta-oxidation of unsaturated fatty acids.
Fatty liver Linked via 2 of 4 related genesHADHB, HADHA Fatty liver, alcoholic Linked via 2 of 4 related genesHADHB, HADHA Trifunctional protein deficiency Linked via 2 of 4 related genesHADHB, HADHA Basal cell carcinoma Linked via 1 of 4 related genesACADL Insomnia Linked via 1 of 4 related genesACADL