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

Gene ID: 1962, updated on 12-Nov-2024

Summary

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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; AllianceGenome:HGNC:3247
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
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Genomic context

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See EHHADH in Genome Data Viewer
Location:
3q27.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (185190624..185254049, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (188006637..188069581, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (184908412..184971837, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14970 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20916 Neighboring gene VPS8 subunit of CORVET complex Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:184624367-184625028 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:184625029-184625689 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:184629832-184630395 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:184787208-184787708 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:184788784-184788991 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:184792904-184793404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:184797955-184798456 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:184798457-184798956 Neighboring gene Sharpr-MPRA regulatory region 10617 Neighboring gene chromosome 3 open reading frame 70 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14972 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20917 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr3:184892998-184893522 and GRCh37_chr3:184893523-184894047 Neighboring gene EHHADH antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20918 Neighboring gene uncharacterized LOC124900548 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14973 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:184999880-185001079 Neighboring gene eukaryotic translation initiation factor 2 subunit 2 beta pseudogene 2 Neighboring gene microRNA 5588 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20921 Neighboring gene mitogen-activated protein kinase kinase kinase 13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20922 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20924 Neighboring gene ribosomal protein L4 pseudogene 4

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 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. [EHHADH is a key gene in fatty acid metabolism pathways in hepatocellular carcinoma: a transcriptomic analysis]. Xie S, et al. Nan Fang Yi Ke Da Xue Xue Bao, 2023 May 20. PMID 37313808, Free PMC Article
  2. cDNA cloning of the human peroxisomal enoyl-CoA hydratase: 3-hydroxyacyl-CoA dehydrogenase bifunctional enzyme and localization to chromosome 3q26.3-3q28: a free left Alu Arm is inserted in the 3' noncoding region. Hoefler G, et al. Genomics, 1994 Jan 1. PMID 8188243
  3. Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. Klootwijk ED, et al. N Engl J Med, 2014 Jan 9. PMID 24401050
  4. EHHADH contributes to cisplatin resistance through regulation by tumor-suppressive microRNAs in bladder cancer. Okamura S, et al. BMC Cancer, 2021 Jan 11. PMID 33430801, Free PMC Article
  5. Import of human bifunctional enzyme into peroxisomes of human hepatoma cells in vitro. Chen GL, et al. Biochem Biophys Res Commun, 1991 Aug 15. PMID 1651711

See all (47) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Positive regulation of cell proliferation by the miR-1290-EHHADH axis in hepatocellular carcinoma.
    Title: Positive regulation of cell proliferation by the miR-1290-EHHADH axis in hepatocellular carcinoma.
  2. [EHHADH is a key gene in fatty acid metabolism pathways in hepatocellular carcinoma: a transcriptomic analysis].
    Title: [EHHADH is a key gene in fatty acid metabolism pathways in hepatocellular carcinoma: a transcriptomic analysis].
  3. EHHADH contributes to cisplatin resistance through regulation by tumor-suppressive microRNAs in bladder cancer.
    Title: EHHADH contributes to cisplatin resistance through regulation by tumor-suppressive microRNAs in bladder cancer.
  4. Mistargeting of peroxisomal EHHADH disrupts mitochondrial metabolism and leads to renal Fanconi's syndrome; this indicates a central role of mitochondria in proximal tubular function.
    Title: Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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

Associated conditions

Description Tests
Fanconi renotubular syndrome 3
MedGen: C3810100 OMIM: 615605 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
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EBI GWAS Catalog
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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)

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

  • MGC120586

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 3-hydroxyacyl-CoA dehydratase activity TAS
Traceable Author Statement
more info
  
enables 3-hydroxyacyl-CoA dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables 3-hydroxyacyl-CoA dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables 3-hydroxyacyl-CoA dehydrogenase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables 3-hydroxyacyl-CoA dehydrogenase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables 3-hydroxyacyl-CoA dehydrogenase activity TAS
Traceable Author Statement
more info
  
enables NAD+ binding IEA
Inferred from Electronic Annotation
more info
  
enables delta(3)-delta(2)-enoyl-CoA isomerase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables enoyl-CoA hydratase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables enoyl-CoA hydratase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables enoyl-CoA hydratase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables enzyme binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables intramolecular oxidoreductase activity, transposing C=C bonds ISS
Inferred from Sequence or Structural Similarity
more info
  
enables long-chain-3-hydroxyacyl-CoA dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in fatty acid beta-oxidation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in fatty acid beta-oxidation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in fatty acid beta-oxidation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in fatty acid beta-oxidation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in fatty acid beta-oxidation using acyl-CoA oxidase TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
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
 PubMed 
located_in peroxisome ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in peroxisome NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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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_047303596.1
XP_047303597.1
XP_054201541.1
XP_054201542.1

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.

Genomic

  1. NG_015999.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001166415.2 → NP_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:1 → 92
    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:199 → 493
    FadB; 3-hydroxyacyl-CoA dehydrogenase [Lipid transport and metabolism]
    pfam00725
    Location:382 → 486
    3HCDH; 3-hydroxyacyl-CoA dehydrogenase, C-terminal domain
    pfam02737
    Location:203 → 380
    3HCDH_N; 3-hydroxyacyl-CoA dehydrogenase, NAD binding domain

  2. NM_001966.4 → NP_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
    A8K6Y3, B4DWG3, D3DNU0, Q08426, Q58EZ5
    Related
    ENSP00000231887.3, ENST00000231887.8
    Conserved Domains (1) summary
    cl28491
    Location:20 → 705
    fadJ; multifunctional fatty acid oxidation complex subunit alpha; Reviewed

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047447641.1 → XP_047303597.1  peroxisomal bifunctional enzyme isoform X1

  2. XM_047447640.1 → XP_047303596.1  peroxisomal bifunctional enzyme isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    188006637..188069581 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054345567.1 → XP_054201542.1  peroxisomal bifunctional enzyme isoform X1

  2. XM_054345566.1 → XP_054201541.1  peroxisomal bifunctional enzyme isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q08426.3 GenPept UniProtKB/Swiss-Prot:Q08426

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