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    Bdh1 3-hydroxybutyrate dehydrogenase, type 1 [ Mus musculus (house mouse) ]

    Gene ID: 71911, updated on 12-May-2024

    Summary

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    Official Symbol
    Bdh1provided by MGI
    Official Full Name
    3-hydroxybutyrate dehydrogenase, type 1provided by MGI
    Primary source
    MGI:MGI:1919161
    See related
    Ensembl:ENSMUSG00000046598 AllianceGenome:MGI:1919161
    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
    Bdh; 2310032J20Rik
    Summary
    Predicted to enable 3-hydroxybutyrate dehydrogenase activity and phospholipid binding activity. Located in mitochondrial inner membrane. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Orthologous to human BDH1 (3-hydroxybutyrate dehydrogenase 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in liver adult (RPKM 77.8), liver E18 (RPKM 72.6) and 21 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    16 B2; 16 21.74 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (31241115..31277719)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (31422297..31458901)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 41443 Neighboring gene STARR-seq mESC enhancer starr_40618 Neighboring gene RIKEN cDNA 1700007E05 gene Neighboring gene STARR-seq mESC enhancer starr_40619 Neighboring gene STARR-seq mESC enhancer starr_40620 Neighboring gene STARR-positive B cell enhancer mm9_chr16:31429812-31430112 Neighboring gene predicted gene 15743 Neighboring gene predicted gene, 53947 Neighboring gene predicted gene, 34032 Neighboring gene predicted gene, 52238 Neighboring gene predicted gene, 46560

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Deficiency of 3-hydroxybutyrate dehydrogenase (BDH1) in mice causes low ketone body levels and fatty liver during fasting. Otsuka H, et al. J Inherit Metab Dis, 2020 Sep. PMID 32279332
    2. Cardiac-Specific Bdh1 Overexpression Ameliorates Oxidative Stress and Cardiac Remodeling in Pressure Overload-Induced Heart Failure. Uchihashi M, et al. Circ Heart Fail, 2017 Dec. PMID 29242353
    3. E2F6 Impairs Glycolysis and Activates BDH1 Expression Prior to Dilated Cardiomyopathy. Major JL, et al. PLoS One, 2017. PMID 28085920, Free PMC Article
    4. Diminished ketone interconversion, hepatic TCA cycle flux, and glucose production in D-β-hydroxybutyrate dehydrogenase hepatocyte-deficient mice. Stagg DB, et al. Mol Metab, 2021 Nov. PMID 34116232, Free PMC Article
    5. The failing heart utilizes 3-hydroxybutyrate as a metabolic stress defense. Horton JL, et al. JCI Insight, 2019 Feb 21. PMID 30668551, Free PMC Article

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. BDH1-mediated betaOHB metabolism ameliorates diabetic kidney disease by activation of NRF2-mediated antioxidative pathway.
      Title: BDH1-mediated βOHB metabolism ameliorates diabetic kidney disease by activation of NRF2-mediated antioxidative pathway.
    2. D-beta-Hydroxybutyrate Dehydrogenase Mitigates Diabetes-Induced Atherosclerosis through the Activation of Nrf2.
      Title: D-β-Hydroxybutyrate Dehydrogenase Mitigates Diabetes-Induced Atherosclerosis through the Activation of Nrf2.
    3. Diminished ketone interconversion, hepatic TCA cycle flux, and glucose production in D-beta-hydroxybutyrate dehydrogenase hepatocyte-deficient mice.
      Title: Diminished ketone interconversion, hepatic TCA cycle flux, and glucose production in D-β-hydroxybutyrate dehydrogenase hepatocyte-deficient mice.
    4. Deficiency of 3-hydroxybutyrate dehydrogenase (BDH1) in mice causes low ketone body levels and fatty liver during fasting.
      Title: Deficiency of 3-hydroxybutyrate dehydrogenase (BDH1) in mice causes low ketone body levels and fatty liver during fasting.
    5. hydrogen peroxide-induced apoptosis was attenuated by Bdh1 overexpression.
      Title: Cardiac-Specific Bdh1 Overexpression Ameliorates Oxidative Stress and Cardiac Remodeling in Pressure Overload-Induced Heart Failure.
    6. High BDH1 expression is Associated with Dilated Cardiomyopathy.
      Title: E2F6 Impairs Glycolysis and Activates BDH1 Expression Prior to Dilated Cardiomyopathy.
    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-hydroxybutyrate dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 3-hydroxybutyrate dehydrogenase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables catalytic activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phospholipid binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    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
    		  
    involved_in steroid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial inner membrane HDA PubMed 
    located_in mitochondrial inner membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    D-beta-hydroxybutyrate dehydrogenase, mitochondrial
    Names
    3-hydroxybutyrate dehydrogenase (heart, mitochondrial)
    b-hydroxybutyrate dehydrogenase
    NP_001116155.1
    NP_780386.3
    XP_036016023.1

    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_001122683.1 → NP_001116155.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_001116155.1

      Status: VALIDATED

      Source sequence(s)
      AA789526, AK145711, AK146962, BE979314
      Consensus CDS
      CCDS28106.1
      UniProtKB/Swiss-Prot
      Q3UJS9, Q3UL45, Q80XN0, Q8BK53, Q8R0C8
      Related
      ENSMUSP00000110882.4, ENSMUST00000115227.10
      Conserved Domains (1) summary
      cd09805
      Location:56 → 341
      type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs

    2. NM_175177.4 → NP_780386.3  D-beta-hydroxybutyrate dehydrogenase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_780386.3

      Status: VALIDATED

      Source sequence(s)
      AA789526, AK145711, AK146962, BE979314, BY148101
      Consensus CDS
      CCDS28106.1
      UniProtKB/Swiss-Prot
      Q3UJS9, Q3UL45, Q80XN0, Q8BK53, Q8R0C8
      Related
      ENSMUSP00000087192.3, ENSMUST00000089759.9
      Conserved Domains (1) summary
      cd09805
      Location:56 → 341
      type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs

    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
      31241115..31277719
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036160130.1 → XP_036016023.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q3UJS9, Q3UL45, Q80XN0, Q8BK53, Q8R0C8
      Related
      ENSMUSP00000110881.2, ENSMUST00000115226.8
      Conserved Domains (1) summary
      cd09805
      Location:56 → 341
      type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80XN0.2 GenPept UniProtKB/Swiss-Prot:Q80XN0

    Gene LinkOut

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

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