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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
  • 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
  • Enoyl-CoA Delta Isomerase 1, Mitochondrial 3
  • 3,2 Trans-Enoyl-Coenzyme A Isomerase 3
  • 3,2 Trans-Enoyl-CoA Isomerase 2
  • 3,2-Trans-Enoyl-CoA Isomerase 4
  • 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 Mononeuritis Of Upper Limb and Peroneal Neuropathy. Among its related pathways are Mitochondrial Fatty Acid Beta-Oxidation and Fatty acid metabolism. GO annotations related to this gene include dodecenoyl-CoA delta-isomerase activity and intramolecular oxidoreductase activity.

UniProtKB/Swiss-Prot 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.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ECI1 Gene

Genomics for ECI1 Gene

Regulatory Elements for ECI1 Gene

Enhancers for ECI1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G002147 2 FANTOM5 Ensembl ENCODE dbSUPER 12.2 +96.5 96510 17.4 CREB3L1 MLX AGO1 ZFP64 YBX1 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 JPT2 ENSG00000261505 LOC105371055 ENSG00000260051 ENSG00000255513 TRAF7 SNORA64 IFT140 ZNF213-AS1 ENSG00000260954
GH16G002250 1.1 ENCODE 22 +0.6 576 3.4 HDGF HNRNPUL1 MLX ARNT AGO1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ECI1 RNPS1 SNORD60 SNHG19 LOC106660606 ENSG00000261613 SNHG9 ENSG00000261663
GH16G002439 0.5 ENCODE 11.4 -188.1 -188102 0.8 POLR2A ZNF600 ETV6 HNRNPL RBFOX2 TBC1D24 NTN3 ABCA3 ABCA17P RNPS1 ECI1 MIR940 PKD1 GC16P002435 MIR6767
GH16G002003 2 FANTOM5 Ensembl ENCODE dbSUPER 1.6 +245.1 245079 7.8 HDGF PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 ENSG00000261123 ENSG00000260646 LOC105371049 JPT2 IFT140 ENSG00000255513 GFER ZNF598 NPW ECI1
GH16G002427 1.4 FANTOM5 ENCODE 1.2 -176.9 -176949 2.8 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZBTB7B ZNF766 CCNF LOC652276 KCTD5 DNASE1L2 ELOB MLST8 RPS2 FLYWCH2 GFER TRAF7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ECI1 on UCSC Golden Path with GeneCards custom track

Promoters for ECI1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000082463 1100 1201 HDGF HNRNPUL1 MLX ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for ECI1 Gene

Chromosome:
16
Start:
2,239,395 bp from pter
End:
2,252,300 bp from pter
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 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

Suggested Antigen Peptide Sequences for ECI1 Gene

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

No data available for Gene Families for ECI1 Gene

Function for ECI1 Gene

Molecular function for ECI1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
(3Z)-dodec-3-enoyl-CoA = (2E)-dodec-2-enoyl-CoA.
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.

Enzyme Numbers (IUBMB) 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 TAS --
GO:0004300 enoyl-CoA hydratase activity IBA --
GO:0016853 isomerase activity IEA --
GO:0016860 intramolecular oxidoreductase activity TAS --
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

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
extracellular 5
mitochondrion 5
peroxisome 2
nucleus 2
cytosol 1

Gene Ontology (GO) - Cellular Components for ECI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 20833797
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with ECI1: view

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 --
GO:0008152 metabolic process IEA --
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
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
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
  • (3Z,6Z)-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

Unigene Clusters for ECI1 Gene

Enoyl-CoA delta isomerase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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, PaxDb, 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)
  • Muscle(2.2)
  • Nervous system(2.2)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with ECI1: view

Primer Products

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 34 35
  • 98.9 (n)
dog
(Canis familiaris)
Mammalia ECI1 34 35
  • 82.99 (n)
cow
(Bos Taurus)
Mammalia ECI1 34 35
  • 82.67 (n)
rat
(Rattus norvegicus)
Mammalia Eci1 34
  • 79.7 (n)
mouse
(Mus musculus)
Mammalia Eci1 34 16 35
  • 77.97 (n)
oppossum
(Monodelphis domestica)
Mammalia ECI1 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves ECI1 34 35
  • 67.56 (n)
lizard
(Anolis carolinensis)
Reptilia ECI1 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eci1 34
  • 66.41 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6083 34
zebrafish
(Danio rerio)
Actinopterygii eci1 34 35
  • 62.55 (n)
wufi31d10 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010130 34
  • 48.97 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4598 35
  • 37 (a)
OneToMany
CG4594 35
  • 36 (a)
OneToMany
CG4592 35
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for ECI1 Gene

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

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

No data available for Paralogs for ECI1 Gene

Variants for ECI1 Gene

Sequence variations from dbSNP and Humsavar for ECI1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs200076790 Uncertain significance 2,243,208(+) GTTCT(C/T)CAGGG reference, missense
rs1000088254 -- 2,250,045(+) TTGCA(G/T)TTTGT intron-variant, upstream-variant-2KB
rs1000303889 -- 2,241,410(+) CCGGC(C/G)TCAGC intron-variant
rs1000326445 -- 2,252,062(+) GGGGT(-/G)GGGGC intron-variant, upstream-variant-2KB
rs1000359220 -- 2,250,555(+) TGGAA(A/C/G)CAGAA intron-variant, upstream-variant-2KB

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)

Relevant External Links for ECI1 Gene

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

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

Disorders for ECI1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ECI1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
mononeuritis of upper limb
  • mononeuritis of upper limb, unspecified
peroneal neuropathy
  • peroneal neuropathies
mononeuritis of upper limb and mononeuritis multiplex
atrial heart septal defect
  • atrial septal defect
urethral syndrome
  • urethral disease
- elite association - COSMIC cancer census association via MalaCards
Search ECI1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ECI1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 S.T. … Wierenga R.K. (J. Mol. Biol. 2004) 3 4 22 64
  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 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. 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 J.M. … Hiltunen K.J. (Biochem. J. 1994) 3 4 64
  5. 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. (Biochem. J. 1994) 3 4 64

Products for ECI1 Gene

Sources for ECI1 Gene

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