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    Ehhadh enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase [ Mus musculus (house mouse) ]

    Gene ID: 74147, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Ehhadhprovided by MGI
    Official Full Name
    enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenaseprovided by MGI
    Primary source
    MGI:MGI:1277964
    See related
    Ensembl:ENSMUSG00000022853 AllianceGenome:MGI:1277964
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    HD; LBP; MFP; LBFP; MFE1; MFP1; PBFE; L-PBE; MFP-1; 1300002P22Rik
    Summary
    Predicted to enable several functions, including dodecenoyl-CoA delta-isomerase activity; enoyl-CoA hydratase activity; and long-chain-3-hydroxyacyl-CoA dehydrogenase activity. Acts upstream of or within fatty acid beta-oxidation. Located in mitochondrion. Is expressed in several structures, including alimentary system; brown fat; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in Fanconi renotubular syndrome 3. Orthologous to human EHHADH (enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in liver E18 (RPKM 121.5), kidney adult (RPKM 92.4) and 8 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    16 B1; 16 12.86 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (21580035..21606589, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (21761285..21787834, complement)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene VPS8 CORVET complex subunit Neighboring gene predicted gene, 50612 Neighboring gene STARR-positive B cell enhancer ABC_E10895 Neighboring gene STARR-positive B cell enhancer mm9_chr16:21630703-21631004 Neighboring gene STARR-positive B cell enhancer mm9_chr16:21631987-21632288 Neighboring gene RIKEN cDNA 2510009E07 gene Neighboring gene STARR-seq mESC enhancer starr_40369 Neighboring gene STARR-positive B cell enhancer ABC_E11607 Neighboring gene RIKEN cDNA 1300002E11 gene Neighboring gene STARR-positive B cell enhancer ABC_E8908 Neighboring gene STARR-seq mESC enhancer starr_40372 Neighboring gene CapStarr-seq enhancer MGSCv37_chr16:21835806-21835989 Neighboring gene mitogen-activated protein kinase kinase kinase 13 Neighboring gene predicted gene, 49607

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Peroxisomal L-bifunctional protein (EHHADH) deficiency causes male-specific kidney hypertrophy and proximal tubular injury in mice. Ranea-Robles P, et al. Kidney360, 2021 Sep. PMID 34651140, Free PMC Article
    2. Murine deficiency of peroxisomal L-bifunctional protein (EHHADH) causes medium-chain 3-hydroxydicarboxylic aciduria and perturbs hepatic cholesterol homeostasis. Ranea-Robles P, et al. Cell Mol Life Sci, 2021 Jul. PMID 34110423, Free PMC Article
    3. Acquired deficiency of peroxisomal dicarboxylic acid catabolism is a metabolic vulnerability in hepatoblastoma. Wang H, et al. J Biol Chem, 2021 Jan-Jun. PMID 33450224, Free PMC Article
    4. The peroxisomal enzyme L-PBE is required to prevent the dietary toxicity of medium-chain fatty acids. Ding J, et al. Cell Rep, 2013 Oct 17. PMID 24075987
    5. Peroxisomal L-bifunctional enzyme (Ehhadh) is essential for the production of medium-chain dicarboxylic acids. Houten SM, et al. J Lipid Res, 2012 Jul. PMID 22534643, Free PMC Article

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Acquired deficiency of peroxisomal dicarboxylic acid catabolism is a metabolic vulnerability in hepatoblastoma.
      Title: Acquired deficiency of peroxisomal dicarboxylic acid catabolism is a metabolic vulnerability in hepatoblastoma.
    2. Murine deficiency of peroxisomal L-bifunctional protein (EHHADH) causes medium-chain 3-hydroxydicarboxylic aciduria and perturbs hepatic cholesterol homeostasis.
      Title: Murine deficiency of peroxisomal L-bifunctional protein (EHHADH) causes medium-chain 3-hydroxydicarboxylic aciduria and perturbs hepatic cholesterol homeostasis.
    3. The Ehhadh is indispensable for the production of medium-chain dicarboxylic acids, providing an explanation for the coordinated induction of mitochondrial and peroxisomal oxidative pathways during fasting.
      Title: Peroxisomal L-bifunctional enzyme (Ehhadh) is essential for the production of medium-chain dicarboxylic acids.
    4. bile acid biosynthesis, estimated by the ratio of C27/C24-bile acids, is more severely affected in double knock-out mice as compared with DBP-/- mice but was normal in LBP-/- mice
      Title: Developmental changes of bile acid composition and conjugation in L- and D-bifunctional protein single and double knockout mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    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

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 3-hydroxyacyl-CoA dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 3-hydroxyacyl-CoA dehydrogenase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables 3-hydroxyacyl-CoA dehydrogenase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables NAD+ binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables catalytic activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables delta(3)-delta(2)-enoyl-CoA isomerase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables enoyl-CoA hydratase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables intramolecular oxidoreductase activity, transposing C=C bonds ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables isomerase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables long-chain-3-hydroxyacyl-CoA dehydrogenase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables lyase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within acyl-CoA metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in fatty acid beta-oxidation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within fatty acid beta-oxidation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in fatty acid beta-oxidation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within fatty acid beta-oxidation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion HDA PubMed 
    is_active_in peroxisome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in peroxisome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in peroxisome TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    peroxisomal bifunctional enzyme
    Names
    L-bifunctional enzyme
    L-peroxisomal bifunctional enzyme
    L-specific multifunctional beta-oxdiation protein
    PBE
    multifunctional enzyme 1
    multifunctional protein 1
    NP_076226.2
    XP_006522721.1

    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.

    mRNA and Protein(s)

    1. NM_023737.3 → NP_076226.2  peroxisomal bifunctional enzyme

      See identical proteins and their annotated locations for NP_076226.2

      Status: VALIDATED

      Source sequence(s)
      AC130214, AK004867, BB841865
      Consensus CDS
      CCDS28063.1
      UniProtKB/Swiss-Prot
      Q91W49, Q9DBM2
      Related
      ENSMUSP00000023559.6, ENSMUST00000023559.7
      Conserved Domains (4) summary
      cd06558
      Location:12 → 186
      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. ...
      PRK11154
      Location:20 → 702
      fadJ; multifunctional fatty acid oxidation complex subunit alpha; Reviewed
      pfam00725
      Location:473 → 577
      3HCDH; 3-hydroxyacyl-CoA dehydrogenase, C-terminal domain
      pfam02737
      Location:297 → 471
      3HCDH_N; 3-hydroxyacyl-CoA dehydrogenase, NAD binding domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000082.7 Reference GRCm39 C57BL/6J

      Range
      21580035..21606589 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006522658.5 → XP_006522721.1  peroxisomal bifunctional enzyme isoform X1

      Conserved Domains (1) summary
      PRK11154
      Location:21 → 646
      fadJ; fatty acid oxidation complex subunit alpha FadJ
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9DBM2.4 GenPept UniProtKB/Swiss-Prot:Q9DBM2

    Gene LinkOut

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

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