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

Chr9:83948781-84124240 bp, + strand From NCBI annotation of GRCm38   175460 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 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; chr6:80816344-81055987 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human BCKDHB

Alleles and phenotypes

All alleles(2) : Gene trapped(2)

Gene Ontology (GO) classifications

All GO classifications: (13 annotations)

Process	branched-chain amino acid catabolic process, cellular amino acid catabolic process, ...
Component	mitochondrial alpha-ketoglutarate dehydrogenase complex, mitochondrial inner membrane, ...
Function	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity, alpha-ketoacid dehydrogenase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (2 records)
Data Summary: Results (107)    Tissues (107)    Images (15)
Theiler Stages: 9, 11, 13, 15, 17, 19, 20, 21, 22, 23, 24, 25, 26

Assay Type	Results
RNA in situ	94
RT-PCR	13

cDNA source data(32)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(33) cDNA(32) Primer pair(1)
Microarray probesets(3)

Other database links

Ensembl Gene Model	ENSMUSG00000032263 (Evidence)
Entrez Gene	12040 (Evidence)
UniGene	12819
DFCI	TC1584042, TC1598941
DoTS	DT.101329086, DT.60118322, DT.94285002
EC	1.2.4.4
Consensus CDS Project	CCDS23378.1
International Mouse Knockout Project Status	Bckdhb

Sequences

Length	Strain/Species
genomic	12040	NCBI Gene Model | MGI Sequence Detail	175460	C57BL/6J
transcript	NM_199195	RefSeq | MGI Sequence Detail	1419	C57BL/6
polypeptide	Q6P3A8	UniProt | EBI | MGI Sequence Detail	390	Not Applicable

All sequences(20) RefSeq(2) UniProt(2)

Polymorphisms

SNPs within 2kb(1623 from dbSNP Build 137)    SNPs within 2kb including multiple locations(1625)

Protein-related information

Resource	ID	Description
InterPro	IPR005476	Transketolase, C-terminal
InterPro	IPR009014	Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II
InterPro	IPR015941	Transketolase-like, C-terminal
InterPro	IPR005475	Transketolase-like, pyrimidine-binding domain
Protein Ontology	PR:000004687	2-oxoisovalerate dehydrogenase subunit beta, mitochondrial

Graphical View of Protein Domain Structure

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(30)

Other accession IDs

MGD-MRK-1522