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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
  • Gene Overview
    MyGene.info: BCKDHB
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:83925145-84124240 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • 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 Chr9:83925111-84124240 (.)
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
    9
  • Human Ortholog
    BCKDHB, branched chain keto acid dehydrogenase E1 subunit beta
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BCKDE1B, BCKDH E1-beta, E1B
  • Links
    NCBI Gene ID: 594
    neXtProt AC: NX_P21953
    UniProt: P21953

  • Chr Location
    6q14.1; chr6:80106610-80469088 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human BCKDHB associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotype references
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000004687 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
  • EC
  • 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 34
    Developmental Gene Expression 2
    Gene Ontology 10
    Phenotypes 5
  • 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:265628 Gaudet P, et al., Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief Bioinform. 2011 Sep;12(5):449-62

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
11/13/2018
MGI 6.13
The Jackson Laboratory