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

    Gene ID: 1962, updated on 4-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
    mouse all
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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
    A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
    EBI GWAS Catalog
    Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned.
    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)

    Genotypes

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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