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

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; 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

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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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.
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.

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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 EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH70427 (e-PCR)
- UniSTS:67683

D10S16 (e-PCR)
- UniSTS:155756

G35510 (e-PCR)
- UniSTS:44150

RH99317 (e-PCR)
- UniSTS:85884

D6S1142E (e-PCR)
- UniSTS:72640

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 more info	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

EC 5.3.3.8

NP_006108.2

EC 5.3.3.8

NP_996667.2

EC 5.3.3.8

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)

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
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
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

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