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Bdh1 Gene Detail
Summary
  • Symbol
    Bdh1
  • Name
    3-hydroxybutyrate dehydrogenase, type 1
  • Synonyms
    2310032J20Rik, Bdh
  • Feature Type
    protein coding gene
  • IDs
    MGI:1919161
    NCBI Gene: 71911
  • Alliance
    gene page
  • Transcription Start Sites
    14 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:31241115-31277719 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 21.74 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1122 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1919161
 protein coding gene Chr16:31241098-31277719 (+)
129S1/SvImJ MGP_129S1SvImJ_G0022720
 protein coding gene Chr16:29390830-29440436 (+)
A/J MGP_AJ_G0022685
 protein coding gene Chr16:28046056-28083731 (+)
AKR/J MGP_AKRJ_G0022658
 protein coding gene Chr16:29092852-29130536 (+)
BALB/cJ MGP_BALBcJ_G0022687
 protein coding gene Chr16:28200742-28237740 (+)
C3H/HeJ MGP_C3HHeJ_G0022452
 protein coding gene Chr16:29195004-29237055 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023136
 protein coding gene Chr16:30020219-30065485 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020654
 protein coding gene Chr16:28428684-28464598 (+)
CAST/EiJ MGP_CASTEiJ_G0021980
 protein coding gene Chr16:29302433-29338658 (+)
CBA/J MGP_CBAJ_G0022422
 protein coding gene Chr16:31276215-31329467 (+)
DBA/2J MGP_DBA2J_G0022555
 protein coding gene Chr16:27902076-27941155 (+)
FVB/NJ MGP_FVBNJ_G0022530
 protein coding gene Chr16:27877578-27914048 (+)
LP/J MGP_LPJ_G0022622
 protein coding gene Chr16:29192049-29228320 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022549
 protein coding gene Chr16:30759422-30801198 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023148
 protein coding gene Chr16:29037999-29076078 (+)
PWK/PhJ MGP_PWKPhJ_G0021719
 protein coding gene Chr16:28210365-28247615 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021550
 protein coding gene Chr16:28818363-28861484 (+)
WSB/EiJ MGP_WSBEiJ_G0022024
 protein coding gene Chr16:28976964-29018848 (+)



Homology
more
  • Human Ortholog
    BDH1, 3-hydroxybutyrate dehydrogenase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BDH1, 3-hydroxybutyrate dehydrogenase 1
  • Synonyms
    BDH, SDR9C1
  • Links
    NCBI Gene ID: 622
    neXtProt AC: NX_Q02338
    UniProt: Q02338

  • Chr Location
    3q29; chr3:197509783-197573343 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    20 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a conditional allele activated in cardiac cells exhibit partial postnatal lethality and increased heart failure following fasting or TAC/MI.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    15
  • GO References
    11
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    1033
  • Tissues
    126
  • cDNA Data
    106
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 71911 NCBI Gene Model | MGI Sequence Detail 36605 C57BL/6J ±  kb
    transcript NM_001122683 RefSeq | MGI Sequence Detail 3133 C57BL/6  
    polypeptide Q80XN0 UniProt | EBI | MGI Sequence Detail 343 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000004714 D-beta-hydroxybutyrate dehydrogenase, mitochondrial
      (term hierarchy)
    • EC
      1.1.1.30
    • InterPro Domains
      IPR036291 NAD(P)-binding domain superfamily
      IPR020904 Short-chain dehydrogenase/reductase, conserved site
      IPR002347 Short-chain dehydrogenase/reductase SDR
    • GlyGen
      Q80XN0 2 sites, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 108
      cDNA 106
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2146421
    References
    more
    • Summaries
      All 63
      Developmental Gene Expression 9
      Gene Ontology 11
      Phenotypes 20
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:345953 Williams AS, et al., Ketone flux through BDH1 supports metabolic remodeling of skeletal and cardiac muscles in response to intermittent time-restricted feeding. Cell Metab. 2024 Feb 6;36(2):422-437.e8
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory