About   Help   FAQ
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
Location & Maps
more
  • Sequence Map
    Chr9:83925145-84124240 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      199096 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 45.67 cM
  • Mapping Data
    1 experiment
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: HGNC, HomoloGene
  • Synonyms
    BCKDE1B, BCKDH E1-beta, E1B
  • Links
    NCBI Gene ID: 594
    neXtProt AC: NX_P21953

  • Chr Location
    6q14.1; chr6:80106627-80346270 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human BCKDHB associations

Human Disease Mouse Models
       Maple Syrup Urine Disease; MSUD   OMIM: 248600
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    4 phenotype references
  • All Mutations and Alleles
    3
  • Chemically induced (other)
    1
  • Gene trapped
    2
  • Genomic Mutations
    1 involving Bckdhb
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000044979 VEGA Gene Model | MGI Sequence Detail 199096 C57BL/6J ±  kb
transcript OTTMUST00000118110 VEGA | MGI Sequence Detail 1477 Not Applicable  
polypeptide OTTMUSP00000065955 VEGA | MGI Sequence Detail 390 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    1710 from dbSNP Build 142
Protein
Information
less
  • 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
    IPR033247 Transketolase family
    IPR005475 Transketolase-like, pyrimidine-binding domain
Molecular
Reagents
less
  • All nucleic 33
    cDNA 32
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-1522
References
more
  • Summaries
    All 28
    Developmental Gene Expression 2
    Gene Ontology 8
    Phenotypes 4
  • 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:151002 Pagliarini DJ, et al., A mitochondrial protein compendium elucidates complex I disease biology. Cell. 2008 Jul 11;134(1):112-23

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/19/2016
MGI 6.04
The Jackson Laboratory