Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 1962, updated on 17-Jun-2019

    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; 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
    109.20190607 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

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

    NHGRI GWAS Catalog

    Description
    A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
    NHGRI GWA Catalog
    Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned.
    NHGRI GWA Catalog

    Pathways from BioSystems

    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 NAS
    Non-traceable Author Statement
    more info
    PubMed 
    3-hydroxyacyl-CoA dehydrogenase activity TAS
    Traceable Author Statement
    more info
     
    dodecenoyl-CoA delta-isomerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enoyl-CoA hydratase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enzyme binding IPI
    Inferred from Physical Interaction
    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 NAS
    Non-traceable Author Statement
    more info
    PubMed 
    fatty acid beta-oxidation using acyl-CoA oxidase TAS
    Traceable Author Statement
    more info
     
    internal protein amino acid acetylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 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
    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
      5001..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 Annotation Release 109

    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
    Support Center