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

Gene ID: 10455, updated on 6-Jan-2019

Summary

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
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

Genomic context

See ECI2 in Genome Data Viewer
Location:
6p25.2
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (4115693..4135597, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (4115927..4135831, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene glutaredoxin 3 pseudogene 2 Neighboring gene pre-mRNA processing factor 4B Neighboring gene family with sequence similarity 217 member A Neighboring gene chromosome 6 open reading frame 201 Neighboring gene uncharacterized LOC100507506 Neighboring gene uncharacterized LOC107986559 Neighboring gene uncharacterized LOC102724096 Neighboring gene N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae) pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Fatty acid degradation, organism-specific biosystem (from KEGG)
    Fatty acid degradation, organism-specific biosystem
    Fatty acid degradation
  • Fatty acid degradation, conserved biosystem (from KEGG)
    Fatty acid degradation, conserved biosystem
    Fatty acid degradation
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Peroxisomal lipid metabolism, organism-specific biosystem (from REACTOME)
    Peroxisomal lipid metabolism, organism-specific biosystemIn humans, the catabolism of phytanate, pristanate, and very long chain fatty acids as well as the first four steps of the biosynthesis of plasmalogens are catalyzed by peroxisomal enzymes. Defects i...
  • Peroxisome, organism-specific biosystem (from KEGG)
    Peroxisome, organism-specific biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
  • Peroxisome, conserved biosystem (from KEGG)
    Peroxisome, conserved biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0536

Gene Ontology Provided by GOA

Function Evidence Code Pubs
dodecenoyl-CoA delta-isomerase activity EXP
Inferred from Experiment
more info
PubMed 
fatty-acyl-CoA binding IEA
Inferred from Electronic Annotation
more info
 
signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
fatty acid beta-oxidation using acyl-CoA oxidase TAS
Traceable Author Statement
more info
 
protein targeting to peroxisome TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
membrane HDA PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
peroxisomal matrix TAS
Traceable Author Statement
more info
 
peroxisome IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
enoyl-CoA delta isomerase 2, mitochondrial
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
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
XP_006715020.1
XP_016865659.1

NCBI Reference Sequences (RefSeq)

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_001166010.1NP_001159482.1  enoyl-CoA delta isomerase 2, mitochondrial 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, BM671011
    Consensus CDS
    CCDS4490.1
    UniProtKB/Swiss-Prot
    O75521
    UniProtKB/TrEMBL
    A0A0C4DGA2
    Related
    ENSP00000369468.2, ENST00000380125.6
    Conserved Domains (2) summary
    cd06558
    Location:112305
    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:1083
    ACBP; Acyl CoA binding protein
  2. NM_006117.2NP_006108.2  enoyl-CoA delta isomerase 2, mitochondrial 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, BQ653836
    Consensus CDS
    CCDS4490.1
    UniProtKB/Swiss-Prot
    O75521
    UniProtKB/TrEMBL
    A0A0C4DGA2
    Related
    ENSP00000354737.2, ENST00000361538.6
    Conserved Domains (2) summary
    cd06558
    Location:112305
    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:1083
    ACBP; Acyl CoA binding protein
  3. NM_206836.2NP_996667.2  enoyl-CoA delta isomerase 2, mitochondrial 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, BM671011
    Consensus CDS
    CCDS43420.2
    UniProtKB/Swiss-Prot
    O75521
    Related
    ENSP00000369461.3, ENST00000380118.7
    Conserved Domains (2) summary
    cd06558
    Location:142335
    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:40113
    ACBP; Acyl CoA binding protein

RNA

  1. NR_028588.1 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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    4115693..4135597 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010170.1XP_016865659.1  enoyl-CoA delta isomerase 2, mitochondrial isoform X2

  2. XM_006714957.2XP_006715020.1  enoyl-CoA delta isomerase 2, mitochondrial isoform X1

    Conserved Domains (2) summary
    cd06558
    Location:142305
    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:40113
    ACBP; Acyl CoA binding protein
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