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EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase [ Homo sapiens (human) ]

Gene ID: 1962, updated on 24-Nov-2020

Summary

Official Symbol
EHHADHprovided by HGNC
Official Full Name
enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenaseprovided by HGNC
Primary source
HGNC:HGNC:3247
See related
Ensembl:ENSG00000113790 MIM:607037
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
LBP; ECHD; LBFP; MFE1; PBFE; FRTS3; L-PBE
Summary
The protein encoded by this gene is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. The N-terminal region of the encoded protein contains enoyl-CoA hydratase activity while the C-terminal region contains 3-hydroxyacyl-CoA dehydrogenase activity. Defects in this gene are a cause of peroxisomal disorders such as Zellweger syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Expression
Biased expression in liver (RPKM 75.1), kidney (RPKM 65.6) and 8 other tissues See more
Orthologs

Genomic context

See EHHADH in Genome Data Viewer
Location:
3q27.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (185190624..185254049, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (184908412..184971886, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene VPS8 subunit of CORVET complex Neighboring gene chromosome 3 open reading frame 70 Neighboring gene EHHADH antisense RNA 1 Neighboring gene eukaryotic translation initiation factor 2 subunit 2 beta pseudogene 2 Neighboring gene microRNA 5588 Neighboring gene mitogen-activated protein kinase kinase kinase 13 Neighboring gene uncharacterized LOC101929018 Neighboring gene ribosomal protein L4 pseudogene 4

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

Phenotypes

Associated conditions

Description Tests
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
GeneReviews: Not available
Fanconi renotubular syndrome 3
MedGen: C3810100 OMIM: 615605 GeneReviews: Not available
Compare labs
Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC120586

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3-hydroxyacyl-CoA dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
3-hydroxyacyl-CoA dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
3-hydroxyacyl-CoA dehydrogenase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
3-hydroxyacyl-CoA dehydrogenase activity NAS
Non-traceable Author Statement
more info
PubMed 
3-hydroxyacyl-CoA dehydrogenase activity TAS
Traceable Author Statement
more info
 
dodecenoyl-CoA delta-isomerase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enoyl-CoA hydratase activity IDA
Inferred from Direct Assay
more info
PubMed 
enoyl-CoA hydratase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enoyl-CoA hydratase activity NAS
Non-traceable Author Statement
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
intramolecular oxidoreductase activity, transposing C=C bonds ISS
Inferred from Sequence or Structural Similarity
more info
 
long-chain-3-hydroxyacyl-CoA dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
long-chain-enoyl-CoA hydratase activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
fatty acid beta-oxidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty acid beta-oxidation IDA
Inferred from Direct Assay
more info
PubMed 
fatty acid beta-oxidation ISS
Inferred from Sequence or Structural Similarity
more info
 
fatty acid beta-oxidation NAS
Non-traceable Author Statement
more info
PubMed 
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
 
peroxisomal matrix TAS
Traceable Author Statement
more info
 
peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxisome IDA
Inferred from Direct Assay
more info
PubMed 
peroxisome ISS
Inferred from Sequence or Structural Similarity
more info
 
peroxisome NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
peroxisomal bifunctional enzyme
Names
3,2-trans-enoyl-CoA isomerase
L-3-hydroxyacyl-CoA dehydrogenase
L-bifunctional protein, peroxisomal
PBE
enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase
multifunctional enzyme 1
peroxisomal enoyl-CoA hydratase
NP_001159887.1
NP_001957.2
XP_006713588.1

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.

Genomic

  1. NG_015999.1 RefSeqGene

    Range
    5050..68475
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166415.2NP_001159887.1  peroxisomal bifunctional enzyme isoform 2

    See identical proteins and their annotated locations for NP_001159887.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AK301521, BC038948, DC418722
    Consensus CDS
    CCDS54694.1
    UniProtKB/Swiss-Prot
    Q08426
    Related
    ENSP00000387746.1, ENST00000456310.5
    Conserved Domains (4) summary
    cd06558
    Location:192
    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. ...
    COG1250
    Location:199493
    FadB; 3-hydroxyacyl-CoA dehydrogenase [Lipid transport and metabolism]
    pfam00725
    Location:382486
    3HCDH; 3-hydroxyacyl-CoA dehydrogenase, C-terminal domain
    pfam02737
    Location:203380
    3HCDH_N; 3-hydroxyacyl-CoA dehydrogenase, NAD binding domain
  2. NM_001966.4NP_001957.2  peroxisomal bifunctional enzyme isoform 1

    See identical proteins and their annotated locations for NP_001957.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    BC038948, DC418722
    Consensus CDS
    CCDS33901.1
    UniProtKB/Swiss-Prot
    Q08426
    Related
    ENSP00000231887.3, ENST00000231887.8
    Conserved Domains (1) summary
    cl28491
    Location:20705
    fadJ; multifunctional fatty acid oxidation complex subunit alpha; Reviewed

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    185190624..185254049 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713525.1XP_006713588.1  peroxisomal bifunctional enzyme isoform X1

    Conserved Domains (3) summary
    COG1250
    Location:87381
    FadB; 3-hydroxyacyl-CoA dehydrogenase [Lipid transport and metabolism]
    pfam00725
    Location:270374
    3HCDH; 3-hydroxyacyl-CoA dehydrogenase, C-terminal domain
    pfam02737
    Location:91268
    3HCDH_N; 3-hydroxyacyl-CoA dehydrogenase, NAD binding domain
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