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ECH1 enoyl-CoA hydratase 1 [ Homo sapiens (human) ]

Gene ID: 1891, updated on 14-Sep-2019

Summary

Official Symbol
ECH1provided by HGNC
Official Full Name
enoyl-CoA hydratase 1provided by HGNC
Primary source
HGNC:HGNC:3149
See related
Ensembl:ENSG00000104823 MIM:600696
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
HPXEL
Summary
This gene encodes a member of the hydratase/isomerase superfamily. The gene product shows high sequence similarity to enoyl-coenzyme A (CoA) hydratases of several species, particularly within a conserved domain characteristic of these proteins. The encoded protein, which contains a C-terminal peroxisomal targeting sequence, localizes to the peroxisome. The rat ortholog, which localizes to the matrix of both the peroxisome and mitochondria, can isomerize 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA, indicating that it is a delta3,5-delta2,4-dienoyl-CoA isomerase. This enzyme functions in the auxiliary step of the fatty acid beta-oxidation pathway. Expression of the rat gene is induced by peroxisome proliferators. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in liver (RPKM 139.0), fat (RPKM 120.0) and 25 other tissues See more
Orthologs

Genomic context

See ECH1 in Genome Data Viewer
Location:
19q13.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (38815422..38831794, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (39306062..39322497, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 140, pseudogene Neighboring gene galectin 4 Neighboring gene heterogeneous nuclear ribonucleoprotein L Neighboring gene Ras and Rab interactor like

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 Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of enoyl Coenzyme A hydratase 1 in umbilical cord blood mononuclear cells and T-cell lines PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Fatty Acid Biosynthesis, organism-specific biosystem (from WikiPathways)
    Fatty Acid Biosynthesis, organism-specific biosystem
    Fatty Acid Biosynthesis
  • 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
delta3,5-delta2,4-dienoyl-CoA isomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
fatty acid beta-oxidation IEA
Inferred from Electronic Annotation
more info
 
protein targeting to peroxisome TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
membrane HDA PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxisomal matrix TAS
Traceable Author Statement
more info
 
peroxisome NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial
Names
delta3,5-delta2,4-dienoyl-CoA isomerase
delta3,5-delta2,4-dienoyl-coenzyme A isomerase
dienoyl-CoA isomerase
enoyl Coenzyme A hydratase 1, peroxisomal
enoyl-CoA hydratase 1, peroxisomal
epididymis secretory sperm binding protein
peroxisomal enoyl-CoA hydratase 1
NP_001389.2
XP_016881937.1
XP_024307176.1
XP_024307177.1

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_001398.3NP_001389.2  delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001389.2

    Status: REVIEWED

    Source sequence(s)
    AV738478, BC011792, BC017408
    Consensus CDS
    CCDS33014.1
    UniProtKB/Swiss-Prot
    Q13011
    Related
    ENSP00000221418.3, ENST00000221418.9
    Conserved Domains (1) summary
    cl23717
    Location:54316
    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. ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    38815422..38831794 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451408.1XP_024307176.1  delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial isoform X1

    Conserved Domains (1) summary
    cl23717
    Location:54378
    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. ...
  2. XM_017026448.1XP_016881937.1  delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial isoform X3

  3. XM_024451409.1XP_024307177.1  delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial isoform X2

    Conserved Domains (1) summary
    cl23717
    Location:1298
    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. ...

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_014040929.1 Reference GRCh38.p13 PATCHES

    Range
    225094..241466 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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