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

Gene ID: 71911, updated on 26-Mar-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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See Bdh1 in Genome Data Viewer
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

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. 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

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