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ECI1 enoyl-CoA delta isomerase 1 [ Homo sapiens (human) ]

Gene ID: 1632, updated on 10-Dec-2024

Summary

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Official Symbol
ECI1provided by HGNC
Official Full Name
enoyl-CoA delta isomerase 1provided by HGNC
Primary source
HGNC:HGNC:2703
See related
Ensembl:ENSG00000167969 MIM:600305; AllianceGenome:HGNC:2703
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DCI
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 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]
Expression
Ubiquitous expression in kidney (RPKM 39.8), colon (RPKM 22.9) and 25 other tissues See more
Orthologs
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Genomic context

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See ECI1 in Genome Data Viewer
Location:
16p13.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (2239402..2251587, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (2261850..2274034, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (2289403..2301588, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10259 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7038 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2275282-2275782 Neighboring gene E4F transcription factor 1 Neighboring gene deoxyribonuclease 1 like 2 Neighboring gene ECI1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10261 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7039 Neighboring gene uncharacterized LOC107984839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10262 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2303743-2304516 Neighboring gene RNA binding protein with serine rich domain 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10263 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7040 Neighboring gene MIR3677 and MIR940 host gene Neighboring gene microRNA 3677

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. Delta 3, delta 2-enoyl-CoA isomerase is the protein that copurifies with human glutathione S-transferases from S-hexylglutathione affinity matrices. Takahashi Y, et al. Biochem J, 1994 Dec 15. PMID 7818490, Free PMC Article
  2. Systems virology identifies a mitochondrial fatty acid oxidation enzyme, dodecenoyl coenzyme A delta isomerase, required for hepatitis C virus replication and likely pathogenesis. Rasmussen AL, et al. J Virol, 2011 Nov. PMID 21917952, Free PMC Article
  3. 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. Partanen ST, et al. J Mol Biol, 2004 Sep 24. PMID 15351645
  4. Fatty acid oxidation enzyme Δ3, Δ2-enoyl-CoA isomerase 1 (ECI1) drives aggressive tumor phenotype and predicts poor clinical outcome in prostate cancer patients. Bramhecha YM, et al. Oncogene, 2022 May. PMID 35411033
  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. Kilponen JM, et al. Biochem J, 1994 May 15. PMID 8198519, Free PMC Article

See all (45) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Fatty acid oxidation enzyme Delta3, Delta2-enoyl-CoA isomerase 1 (ECI1) drives aggressive tumor phenotype and predicts poor clinical outcome in prostate cancer patients.
    Title: Fatty acid oxidation enzyme Δ3, Δ2-enoyl-CoA isomerase 1 (ECI1) drives aggressive tumor phenotype and predicts poor clinical outcome in prostate cancer patients.
  2. Hepatitis C virus growth and RNA replication in hepatoma cell lines stably expressing coenzyme A delta isomerase (DCI)-targeting short hairpin RNA (shRNA) were abrogated, indicating that DCI is required for productive infection.
    Title: Systems virology identifies a mitochondrial fatty acid oxidation enzyme, dodecenoyl coenzyme A delta isomerase, required for hepatitis C virus replication and likely pathogenesis.
  3. determination of structure and mode of binding for fatty acyl group
    Title: 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.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of enoyl-CoA delta isomerase 1 (ECI1) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables delta(3)-delta(2)-enoyl-CoA isomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables delta(3)-delta(2)-enoyl-CoA isomerase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables delta(3)-delta(2)-enoyl-CoA isomerase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables intramolecular oxidoreductase activity, transposing C=C bonds ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in fatty acid beta-oxidation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in fatty acid beta-oxidation IEA
Inferred from Electronic Annotation
more info
  
involved_in fatty acid beta-oxidation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in fatty acid beta-oxidation NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in mitochondrial matrix NAS
Non-traceable Author Statement
more info
 PubMed 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrion HDA PubMed 
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
enoyl-CoA delta isomerase 1, mitochondrial
Names
3,2 trans-enoyl-Coenzyme A isomerase
3,2-trans-enoyl-CoA isomerase, mitochondrial
D3,D2-enoyl-CoA isomerase
acetylene-allene isomerase
delta(3),Delta(2)-enoyl-CoA isomerase
dodecenoyl-CoA delta isomerase (3,2 trans-enoyl-CoA isomerase)
dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase)
epididymis secretory sperm binding protein
NP_001171500.1
NP_001910.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_047046.1 RefSeqGene

    Range
    5015..17200
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001178029.2 → NP_001171500.1  enoyl-CoA delta isomerase 1, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_001171500.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame segment in the CDS, as compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC009065, AK291127, BC002746, BQ773923
    Consensus CDS
    CCDS58410.1
    UniProtKB/Swiss-Prot
    P42126
    Related
    ENSP00000456319.1, ENST00000562238.5
    Conserved Domains (1) summary
    pfam00378
    Location:52 → 283
    ECH_1; Enoyl-CoA hydratase/isomerase

  2. NM_001919.4 → NP_001910.2  enoyl-CoA delta isomerase 1, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_001910.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC009065, AK291127, BQ773923
    Consensus CDS
    CCDS10464.1
    UniProtKB/Swiss-Prot
    A8K512, P42126, Q13290, Q7Z2L6, Q7Z2L7, Q9BUB8, Q9BW05, Q9UDG6
    UniProtKB/TrEMBL
    A0A384NKJ3, Q96DC0
    Related
    ENSP00000301729.4, ENST00000301729.9
    Conserved Domains (1) summary
    pfam00378
    Location:52 → 298
    ECH_1; Enoyl-CoA hydratase/isomerase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    2239402..2251587 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    2261850..2274034 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P42126.1 GenPept UniProtKB/Swiss-Prot:P42126

Gene LinkOut

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