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 during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternativ... See more...

Aliases for ECI1 Gene

Aliases for ECI1 Gene

  • Enoyl-CoA Delta Isomerase 1 2 3 5
  • Dodecenoyl-Coenzyme A Delta Isomerase (3,2 Trans-Enoyl-Coenzyme A Isomerase) 2 3
  • Enoyl-CoA Delta Isomerase 1, Mitochondrial 3 4
  • Delta(3),Delta(2)-Enoyl-CoA Isomerase 3 4
  • D3,D2-Enoyl-CoA Isomerase 3 4
  • Dodecenoyl-CoA Isomerase 2 4
  • DCI 3 4
  • Dodecenoyl-CoA Delta Isomerase (3,2 Trans-Enoyl-CoA Isomerase) 3
  • 3,2-Trans-Enoyl-CoA Isomerase, Mitochondrial 3
  • Epididymis Secretory Sperm Binding Protein 3
  • 3,2 Trans-Enoyl-Coenzyme A Isomerase 3
  • 3,2-Trans-Enoyl-CoA Isomerase 4
  • 3,2 Trans-Enoyl-CoA Isomerase 2
  • Acetylene-Allene Isomerase 3
  • EC 5.3.3.8 4

External Ids for ECI1 Gene

Previous HGNC Symbols for ECI1 Gene

  • DCI

Previous GeneCards Identifiers for ECI1 Gene

  • GC16M002291
  • GC16M002292
  • GC16M002293
  • GC16M002295
  • GC16M002297
  • GC16M002299
  • GC16M002301

Summaries for ECI1 Gene

Entrez Gene Summary for ECI1 Gene

  • 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 during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010]

GeneCards Summary for ECI1 Gene

ECI1 (Enoyl-CoA Delta Isomerase 1) is a Protein Coding gene. Diseases associated with ECI1 include Dysbaric Osteonecrosis and Peroneal Neuropathy. Among its related pathways are Mitochondrial Fatty Acid Beta-Oxidation and fatty acid beta-oxidation (peroxisome). Gene Ontology (GO) annotations related to this gene include dodecenoyl-CoA delta-isomerase activity and intramolecular oxidoreductase activity. An important paralog of this gene is AUH.

UniProtKB/Swiss-Prot Summary for ECI1 Gene

  • Able to isomerize both 3-cis and 3-trans double bonds into the 2-trans form in a range of enoyl-CoA species.

Additional gene information for ECI1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ECI1 Gene

Genomics for ECI1 Gene

GeneHancer (GH) Regulatory Elements for ECI1 Gene

Promoters and enhancers for ECI1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ECI1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ECI1 Gene

Genomic Locations for ECI1 Gene
chr16:2,239,402-2,252,300
(GRCh38/hg38)
Size:
12,899 bases
Orientation:
Minus strand
chr16:2,289,396-2,302,301
(GRCh37/hg19)
Size:
12,906 bases
Orientation:
Minus strand

Genomic View for ECI1 Gene

Genes around ECI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ECI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ECI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ECI1 Gene

Proteins for ECI1 Gene

  • Protein details for ECI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P42126-ECI1_HUMAN
    Recommended name:
    Enoyl-CoA delta isomerase 1, mitochondrial
    Protein Accession:
    P42126
    Secondary Accessions:
    • A8K512
    • Q13290
    • Q7Z2L6
    • Q7Z2L7
    • Q9BUB8
    • Q9BW05
    • Q9UDG6

    Protein attributes for ECI1 Gene

    Size:
    302 amino acids
    Molecular mass:
    32816 Da
    Quaternary structure:
    • Homotrimer.

    Three dimensional structures from OCA and Proteopedia for ECI1 Gene

    Alternative splice isoforms for ECI1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ECI1 Gene

Post-translational modifications for ECI1 Gene

  • Ubiquitination at Lys283 and Lys288
  • Modification sites at PhosphoSitePlus

Other Protein References for ECI1 Gene

No data available for DME Specific Peptides for ECI1 Gene

Domains & Families for ECI1 Gene

Gene Families for ECI1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ECI1 Gene

GenScript: Design optimal peptide antigens:
  • Dodecenoyl-CoA isomerase (ECI1_HUMAN)
  • Dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase), isoform CRA_a (Q96DC0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P42126

UniProtKB/Swiss-Prot:

ECI1_HUMAN :
  • Belongs to the enoyl-CoA hydratase/isomerase family.
Family:
  • Belongs to the enoyl-CoA hydratase/isomerase family.
genes like me logo Genes that share domains with ECI1: view

Function for ECI1 Gene

Molecular function for ECI1 Gene

UniProtKB/Swiss-Prot Function:
Able to isomerize both 3-cis and 3-trans double bonds into the 2-trans form in a range of enoyl-CoA species.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a (3Z)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA; Xref=Rhea:RHEA:45900, ChEBI:CHEBI:85097, ChEBI:CHEBI:85489; EC=5.3.3.8; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a (3E)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA; Xref=Rhea:RHEA:45228, ChEBI:CHEBI:58521, ChEBI:CHEBI:85097; EC=5.3.3.8; Evidence=. ;.

Enzyme Numbers (IUBMB) for ECI1 Gene

Phenotypes From GWAS Catalog for ECI1 Gene

Gene Ontology (GO) - Molecular Function for ECI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004165 dodecenoyl-CoA delta-isomerase activity NAS 7818490
GO:0004300 enoyl-CoA hydratase activity IBA 21873635
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with ECI1: view
genes like me logo Genes that share phenotypes with ECI1: view

Animal Models for ECI1 Gene

MGI Knock Outs for ECI1:

Animal Model Products

  • Taconic Biosciences Mouse Models for ECI1

CRISPR Products

miRNA for ECI1 Gene

miRTarBase miRNAs that target ECI1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ECI1

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ECI1 Gene

Localization for ECI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ECI1 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ECI1 gene
Compartment Confidence
mitochondrion 5
peroxisome 2
nucleus 2
extracellular 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ECI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA 21873635
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ECI1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ECI1 Gene

Pathways & Interactions for ECI1 Gene

genes like me logo Genes that share pathways with ECI1: view

UniProtKB/Swiss-Prot P42126-ECI1_HUMAN

  • Pathway: Lipid metabolism; fatty acid beta-oxidation.

Gene Ontology (GO) - Biological Process for ECI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006635 fatty acid beta-oxidation TAS --
genes like me logo Genes that share ontologies with ECI1: view

No data available for SIGNOR curated interactions for ECI1 Gene

Drugs & Compounds for ECI1 Gene

(2) Drugs for ECI1 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
benzamidine Experimental Pharma Target 0
Octanoyl-Coenzyme A Experimental Pharma Target 0

(5) Additional Compounds for ECI1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Dodecenoyl-CoA
1066-12-2
3-trans,5-cis-Octadienoyl-CoA
  • S-[(3E,5Z)-3,5-Octadienoate
  • S-[(3E,5Z)-3,5-Octadienoate CoA
  • S-[(3E,5Z)-3,5-Octadienoate coenzyme A
  • S-[(3E,5Z)-3,5-Octadienoic acid
214769-63-8
3Z-dodecenoyl-CoA
  • (3Z)-Dodec-3-enoyl-CoA
  • (3Z)-Dodec-3-enoyl-coenzyme A
  • S-[2-[3-[[(2R)-4-[[[(2R,3R,5R)-5-(6-Aminopurin-9-yl)-4-hydroxy-3-phosphonooxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-hydroxyphosphoryl]oxy-2-hydroxy-3,3-dimethylbutanoyl]amino]propanoylamino]ethyl] (Z)-dodec-3-enethioate
  • S-[2-[3-[[(2R)-4-[[[(2R,3R,5R)-5-(6-Aminopurin-9-yl)-4-hydroxy-3-phosphonooxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-hydroxyphosphoryl]oxy-2-hydroxy-3,3-dimethylbutanoyl]amino]propanoylamino]ethyl] (Z)-dodec-3-enethioic acid
2152-91-2
cis,cis-3,6-Dodecadienoyl-CoA
  • cis,cis-3,6-Dodecadienoyl-coenzyme A
  • cis,cis-Dodeca-3,6-dienoyl-CoA
  • cis,cis-Dodeca-3,6-dienoyl-coenzyme A
trans,cis-Lauro-2,6-dienoyl-CoA
genes like me logo Genes that share compounds with ECI1: view

Transcripts for ECI1 Gene

mRNA/cDNA for ECI1 Gene

(2) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(14) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ECI1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ECI1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6
SP1:
SP2: -
SP3: -

Relevant External Links for ECI1 Gene

GeneLoc Exon Structure for
ECI1
ECgene alternative splicing isoforms for
ECI1

Expression for ECI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ECI1 Gene

Protein differential expression in normal tissues from HIPED for ECI1 Gene

This gene is overexpressed in Liver, secretome (13.3) and Salivary gland (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ECI1 Gene



Protein tissue co-expression partners for ECI1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ECI1 Gene:

ECI1

SOURCE GeneReport for Unigene cluster for ECI1 Gene:

Hs.403436

Evidence on tissue expression from TISSUES for ECI1 Gene

  • Liver(4.5)
  • Lung(4.5)
  • Pancreas(2.9)
  • Heart(2.3)
  • Blood(2.2)
  • Muscle(2.2)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with ECI1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ECI1 Gene

Orthologs for ECI1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ECI1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ECI1 33 32
  • 98.9 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ECI1 33 32
  • 82.99 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ECI1 33 32
  • 82.67 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eci1 32
  • 79.7 (n)
mouse
(Mus musculus)
Mammalia Eci1 17 33 32
  • 77.97 (n)
oppossum
(Monodelphis domestica)
Mammalia ECI1 33
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves ECI1 33 32
  • 67.56 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ECI1 33
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eci1 32
  • 66.41 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6083 32
zebrafish
(Danio rerio)
Actinopterygii eci1 33 32
  • 62.55 (n)
OneToOne
wufi31d10 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010130 32
  • 48.97 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4598 33
  • 37 (a)
OneToMany
CG4594 33
  • 36 (a)
OneToMany
CG4592 33
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 40 (a)
OneToOne
Species where no ortholog for ECI1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ECI1 Gene

ENSEMBL:
Gene Tree for ECI1 (if available)
TreeFam:
Gene Tree for ECI1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ECI1: view image

Paralogs for ECI1 Gene

(1) SIMAP similar genes for ECI1 Gene using alignment to 2 proteins:

  • ECI1_HUMAN
  • H3BS70_HUMAN
genes like me logo Genes that share paralogs with ECI1: view

Variants for ECI1 Gene

Sequence variations from dbSNP and Humsavar for ECI1 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs144920416 uncertain-significance, not provided 2,240,103(-) G/A coding_sequence_variant, missense_variant
rs200076790 uncertain-significance, not specified 2,243,208(-) C/T coding_sequence_variant, missense_variant
rs1000088254 -- 2,250,045(-) T/G intron_variant
rs1000303889 -- 2,241,410(-) C/G intron_variant
rs1000326445 -- 2,252,062(-) GGGGG/GGGG upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ECI1 Gene

Variant ID Type Subtype PubMed ID
dgv4859n54 CNV loss 21841781
dgv4861n54 CNV loss 21841781
dgv4863n54 CNV loss 21841781
esv2422427 CNV duplication 17116639
esv2673834 CNV deletion 23128226
esv3553008 CNV deletion 23714750
esv3637631 CNV loss 21293372
nsv1052260 CNV gain 25217958
nsv457351 CNV loss 19166990
nsv471072 CNV loss 18288195
nsv571200 CNV loss 21841781
nsv952902 CNV deletion 24416366

Variation tolerance for ECI1 Gene

Residual Variation Intolerance Score: 61.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.45; 43.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ECI1 Gene

Human Gene Mutation Database (HGMD)
ECI1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ECI1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ECI1 Gene

Disorders for ECI1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for ECI1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
dysbaric osteonecrosis
  • caisson disease of bone
peroneal neuropathy
  • peroneal neuropathies
anosognosia
dyskinesia of esophagus
  • dyskinesia of oesophagus
cavernous sinus meningioma
  • meningioma of the cavernous sinus
- elite association - COSMIC cancer census association via MalaCards
Search ECI1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ECI1

genes like me logo Genes that share disorders with ECI1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ECI1 Gene

Publications for ECI1 Gene

  1. The 1.3 A crystal structure of human mitochondrial Delta3-Delta2-enoyl-CoA isomerase shows a novel mode of binding for the fatty acyl group. (PMID: 15351645) Partanen ST … Wierenga RK (Journal of molecular biology 2004) 3 4 23 56
  2. Human mitochondrial 3,2-trans-enoyl-CoA isomerase (DCI): gene structure and localization to chromosome 16p13.3. (PMID: 7829074) Janssen U … Stoffel W (Genomics 1994) 2 3 4 56
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  4. Delta 3, delta 2-enoyl-CoA isomerase is the protein that copurifies with human glutathione S-transferases from S-hexylglutathione affinity matrices. (PMID: 7818490) Takahashi Y … Listowsky I (The Biochemical journal 1994) 3 4 56
  5. cDNA cloning and amino acid sequence of human mitochondrial delta 3 delta 2-enoyl-CoA isomerase: comparison of the human enzyme with its rat counterpart, mitochondrial short-chain isomerase. (PMID: 8198519) Kilponen JM … Hiltunen JK (The Biochemical journal 1994) 3 4 56

Products for ECI1 Gene

Sources for ECI1 Gene