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Bckdhb Gene Detail
Summary
  • Symbol
    Bckdhb
  • Name
    branched chain ketoacid dehydrogenase E1, beta polypeptide
  • Feature Type
    protein coding gene
  • IDs
    MGI:88137
    NCBI Gene: 12040
  • Alliance
    gene page
  • Transcription Start Sites
    14 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:83807198-84006293 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 45.67 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1710 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88137
 protein coding gene Chr9:83807190-84006293 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035090
 protein coding gene Chr9:84625208-84817187 (+)
A/J MGP_AJ_G0035071
 protein coding gene Chr9:81687525-81881415 (+)
AKR/J MGP_AKRJ_G0034999
 protein coding gene Chr9:83603306-83799920 (+)
BALB/cJ MGP_BALBcJ_G0035059
 protein coding gene Chr9:81350035-81548120 (+)
C3H/HeJ MGP_C3HHeJ_G0034771
 protein coding gene Chr9:84134635-84334418 (+)
C57BL/6NJ MGP_C57BL6NJ_G0035582
 protein coding gene Chr9:86938252-87150046 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032490
 protein coding gene Chr9:80600123-80786415 (+)
CAST/EiJ MGP_CASTEiJ_G0034089
 protein coding gene Chr9:84542143-84741022 (+)
CBA/J MGP_CBAJ_G0034744
 protein coding gene Chr9:90058489-90268644 (+)
DBA/2J MGP_DBA2J_G0034902
 protein coding gene Chr9:81280142-81472207 (+)
FVB/NJ MGP_FVBNJ_G0034845
 protein coding gene Chr9:80411143-80602779 (+)
LP/J MGP_LPJ_G0034983
 protein coding gene Chr9:84830655-85030861 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0034887
 protein coding gene Chr9:91466148-91684989 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0035603
 protein coding gene Chr9:83784326-83976637 (+)
PWK/PhJ MGP_PWKPhJ_G0033793
 protein coding gene Chr9:81443931-81635441 (+)
SPRET/EiJ MGP_SPRETEiJ_G0033629
 protein coding gene Chr9:83928457-84128174 (+)
WSB/EiJ MGP_WSBEiJ_G0034206
 protein coding gene Chr9:83775835-83967951 (+)



Homology
more
  • Human Ortholog
    BCKDHB, branched chain keto acid dehydrogenase E1 subunit beta
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BCKDHB, branched chain keto acid dehydrogenase E1 subunit beta
  • Synonyms
    BCKDE1B, BCKDH E1-beta, E1B, MSUD1B, OVD1B
  • Links
    NCBI Gene ID: 594
    neXtProt AC: NX_P21953
    UniProt: P21953

  • Chr Location
    6q14.1; chr6:80106610-80466676 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Bckdhb mouse models; 1 with human BCKDHB associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    9 phenotypes from 1 allele in 2 genetic backgrounds
    9 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 knock-out allele exhibit postnatal growth retardation and complete postnatal lethality with increased plasma levels of branched-chain amino acids and alloisoleucine, mimicking features of severe neonatal maple syrup urine disease.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    29
  • GO References
    9
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
non-membrane-bounded 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
    813
  • Tissues
    107
  • cDNA Data
    33
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000032263 Ensembl Gene Model | MGI Sequence Detail 199096 C57BL/6J ±  kb
    transcript ENSMUST00000190637 Ensembl | MGI Sequence Detail 1477 Not Applicable  
    polypeptide ENSMUSP00000139684 Ensembl | MGI Sequence Detail 390 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000004687 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
      (term hierarchy)
    • EC
      1.2.4.4
    • InterPro Domains
      IPR029061 Thiamin diphosphate-binding fold
      IPR033248 Transketolase, C-terminal domain
      IPR009014 Transketolase C-terminal/Pyruvate-ferredoxin oxidoreductase domain II
      IPR005475 Transketolase-like, pyrimidine-binding domain
    Molecular
    Reagents
    less
    • All nucleic 34
      cDNA 33
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-1522
    References
    more
    • Summaries
      All 37
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 9
      Phenotypes 9
    • Earliest
      J:16228 Chinsky JM, et al., Molecular cloning and analysis of the expression of the E1 beta subunit of branched chain alpha-ketoacid dehydrogenase in mice. Biochim Biophys Acta. 1993 Dec 14;1216(3):499-503
    • Latest
      J:344897 Pontoizeau C, et al., Successful treatment of severe MSUD in Bckdhb(-/-) mice with neonatal AAV gene therapy. J Inherit Metab Dis. 2024 Jan;47(1):41-49
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory