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Bckdhb
Gene Detail
Symbol

Name
ID
Bckdhb
branched chain ketoacid dehydrogenase E1, beta polypeptide
MGI:88137
Feature Type
protein coding gene
Genetic Map
Chromosome 9
45.67 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr9:83925145-84124240 bp, + strand
From VEGA annotation of GRCm38

  199096 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:39  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Bckdhb

Human
homologs
Human Homolog BCKDHB, branched chain keto acid dehydrogenase E1, beta polypeptide
NCBI Gene ID 594
neXtProt AC  NX_P21953
Human Synonyms  dJ279A18.1, E1B
Human Chr (Location)  6q14.1; chr6:80106627-80346270 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human BCKDHB
Mutations,
alleles, and
phenotypes
All mutations/alleles(2) : Gene trapped(2)
Incidental mutations (data from Mutagenetix , APF )
Interactions
Bckdhb interacts with 54 markers (Mir16-2, Mir132, Mir133b, ...)
Expression
Literature Summary: (2 records)
Data Summary: Results (107)    Tissues (107)    Images (15)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
RT-PCR 13
cDNA source data(32)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(33) cDNA(32) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000044979 (Evidence)
Ensembl Gene ModelENSMUSG00000032263 (Evidence)
Entrez Gene12040 (Evidence)
UniGene12819
DFCITC1584042, TC1598941
DoTSDT.101329086, DT.60118322, DT.94285002
EC1.2.4.4
Consensus CDS ProjectCCDS23378.1
International Mouse Knockout Project StatusBckdhb
Sequences
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 sequences
All sequences(37) RefSeq(10) UniProt(3)
Polymorphisms
SNPs within 2kb(1731 from dbSNP Build 137)    SNPs within 2kb including multiple locations(1733)
Protein-related
information
ResourceIDDescription
InterPro IPR005476 Transketolase, C-terminal
InterPro IPR009014 Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II
InterPro IPR005475 Transketolase-like, pyrimidine-binding domain
Protein Ontology PR:000004687 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
References
(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
All references(31)
Other
accession IDs
MGD-MRK-1522

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/09/2014
MGI 5.20
The Jackson Laboratory