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ECI2 enoyl-CoA delta isomerase 2 [ Homo sapiens (human) ]

Gene ID: 10455, updated on 5-Mar-2024

Summary

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Official Symbol
ECI2provided by HGNC
Official Full Name
enoyl-CoA delta isomerase 2provided by HGNC
Primary source
HGNC:HGNC:14601
See related
Ensembl:ENSG00000198721 MIM:608024; AllianceGenome:HGNC:14601
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DRS1; PECI; ACBD2; DRS-1; HCA88; dJ1013A10.3
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 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, Aug 2011]
Expression
Ubiquitous expression in liver (RPKM 93.4), kidney (RPKM 88.4) and 25 other tissues See more
Orthologs
all
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Genomic context

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Location:
6p25.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (4115706..4135575, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (3984995..4004863, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (4115940..4135809, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23896 Neighboring gene pre-mRNA processing factor kinase PRP4K Neighboring gene Sharpr-MPRA regulatory region 2502 Neighboring gene uncharacterized LOC124901553 Neighboring gene family with sequence similarity 217 member A Neighboring gene testis expressed 56, pseudogene Neighboring gene Sharpr-MPRA regulatory region 9692 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16859 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16860 Neighboring gene uncharacterized LOC107986559 Neighboring gene uncharacterized LOC124901246 Neighboring gene ECI2 divergent transcript Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:4168819-4169425 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:4169426-4170031 Neighboring gene CRISPRi-validated cis-regulatory element chr6.285

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Lipid degradation promotes prostate cancer cell survival. Itkonen HM, et al. Oncotarget, 2017 Jun 13. PMID 28415728, Free PMC Article
  2. ACBD2/ECI2-Mediated Peroxisome-Mitochondria Interactions in Leydig Cell Steroid Biosynthesis. Fan J, et al. Mol Endocrinol, 2016 Jul. PMID 27167610, Free PMC Article
  3. Diazepam-binding inhibitor-related protein 1: a candidate autoantigen in acquired aplastic anemia patients harboring a minor population of paroxysmal nocturnal hemoglobinuria-type cells. Feng X, et al. Blood, 2004 Oct 15. PMID 15217832
  4. Molecular cloning and expression of a novel human cDNA related to the diazepam binding inhibitor. Suk K, et al. Biochim Biophys Acta, 1999 May 31. PMID 10354522
  5. Human Δ³,Δ²-enoyl-CoA isomerase, type 2: a structural enzymology study on the catalytic role of its ACBP domain and helix-10. Onwukwe GU, et al. FEBS J, 2015 Feb. PMID 25515061

See all (75) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Enoyl-CoA delta isomerase 2 (ECI2) is a novel AR-target that promotes prostate cancer cell survival
    Title: Lipid degradation promotes prostate cancer cell survival.
  2. Ectopic expression of the ACBD2/ECI2 isoform A in MA-10 cells led to increased basal and hormone-stimulated steroid formation, indicating that ACBD2/ECI2-mediated peroxisomes-mitochondria interactions favor in the exchange of metabolites and/or macromolecules between these 2 organelles in support of steroid biosynthesis. Considering the widespread occurrence of the ACBD2/ECI2 protein, we propose that this protein might se
    Title: ACBD2/ECI2-Mediated Peroxisome-Mitochondria Interactions in Leydig Cell Steroid Biosynthesis.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  4. DRS-1 may serve as an autoantigen eliciting immune attack against hematopoietic stem cells in a subset of acquired aplastic anemia patients characterized by increased paroxysmal nocturnal hemoglobinuria-type cells
    Title: Diazepam-binding inhibitor-related protein 1: a candidate autoantigen in acquired aplastic anemia patients harboring a minor population of paroxysmal nocturnal hemoglobinuria-type cells.
  5. Disruption of mitochondrial beta -oxidation of unsaturated fatty acids in the 3,2-trans-enoyl-CoA isomerase-deficient mouse
    Title: Disruption of mitochondrial beta -oxidation of unsaturated fatty acids in the 3,2-trans-enoyl-CoA isomerase-deficient mouse.
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

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

Clone Names

  • KIAA0536

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 fatty-acyl-CoA binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
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
  
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in membrane HDA PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in peroxisomal matrix TAS
Traceable Author Statement
more info
  
is_active_in peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in peroxisome IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
enoyl-CoA delta isomerase 2
Names
D3,D2-enoyl-CoA isomerase
DBI-related protein 1
acyl-Coenzyme A binding domain containing 2
delta(3),delta(2)-enoyl-CoA isomerase
diazepam-binding inhibitor-related protein 1
dodecenoyl-CoA isomerase
enoyl-CoA delta isomerase 2, mitochondrial
hepatocellular carcinoma-associated antigen 88
peroxisomal 3,2-trans-enoyl-CoA isomerase
peroxisomal D3,D2-enoyl-CoA isomerase
renal carcinoma antigen NY-REN-1
testicular secretory protein Li 33
NP_001159482.1
NP_006108.2
NP_996667.2

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.

mRNA and Protein(s)

  1. NM_001166010.2 → NP_001159482.1  enoyl-CoA delta isomerase 2 isoform 1

    See identical proteins and their annotated locations for NP_001159482.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Both variants 1 and 3 encode the same isoform (1).
    Source sequence(s)
    BC034702
    Consensus CDS
    CCDS4490.1
    UniProtKB/TrEMBL
    A0A0C4DGA2, Q53GC8, Q53HG3
    Related
    ENSP00000369468.2, ENST00000380125.6
    Conserved Domains (2) summary
    cd06558
    Location:112 → 305
    crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...
    pfam00887
    Location:10 → 83
    ACBP; Acyl CoA binding protein

  2. NM_006117.3 → NP_006108.2  enoyl-CoA delta isomerase 2 isoform 1

    See identical proteins and their annotated locations for NP_006108.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the shorter isoform (1). Both variants 1 and 3 encode the same isoform.
    Source sequence(s)
    AU100345, BC033841
    Consensus CDS
    CCDS4490.1
    UniProtKB/TrEMBL
    A0A0C4DGA2, Q53GC8, Q53HG3
    Related
    ENSP00000354737.2, ENST00000361538.6
    Conserved Domains (2) summary
    cd06558
    Location:112 → 305
    crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...
    pfam00887
    Location:10 → 83
    ACBP; Acyl CoA binding protein

  3. NM_206836.3 → NP_996667.2  enoyl-CoA delta isomerase 2 isoform 2

    See identical proteins and their annotated locations for NP_996667.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate upstream translational start codon and includes an alternate splice site in its 5' coding region, compared to variant 1. The encoded isoform (2) has a longer and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AU100345, BC002668
    Consensus CDS
    CCDS43420.2
    UniProtKB/Swiss-Prot
    O75521, Q5JYK5, Q5JYK7, Q7L124, Q8N0X0, Q9BUE9, Q9H0T9, Q9NQH1, Q9NYH7, Q9UN55
    UniProtKB/TrEMBL
    Q53GC8, Q53HG3
    Related
    ENSP00000369461.3, ENST00000380118.8
    Conserved Domains (2) summary
    cd06558
    Location:142 → 335
    crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...
    pfam00887
    Location:40 → 113
    ACBP; Acyl CoA binding protein

RNA

  1. NR_028588.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) includes an alternate internal exon, compared to variant 1. This variant is represented as non-coding due to the presence of multiple upstream ORFs that are predicted to interfere with the translation of the longest ORF.
    Source sequence(s)
    AU100345, BC016781, BC025287, BM671011
    Related
    ENST00000496241.6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    4115706..4135575 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    3984995..4004863 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75521.4 GenPept UniProtKB/Swiss-Prot:O75521

Gene LinkOut

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