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

Gene ID: 74147, updated on 28-Dec-2022

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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See Ehhadh in Genome Data Viewer
Location:
16; 16 B1
Exon count:
7
Annotation release Status Assembly Chr Location
109 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 RIKEN cDNA 2510009E07 gene Neighboring gene RIKEN cDNA 1300002E11 gene Neighboring gene mitogen-activated protein kinase kinase kinase 13 Neighboring gene 60S ribosomal protein L12 pseudogene

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

See citations in PubMed for homologs of this gene provided by HomoloGene

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
 PubMed 
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
 PubMed 
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
 PubMed 
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: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

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