Bckdha
Gene Detail

Symbol Name ID

Bckdha branched chain ketoacid dehydrogenase E1, alpha polypeptide MGI:107701

Synonyms

BCKAD E1[a]

Feature Type

protein coding gene

Genetic Map

Chromosome 7

13.94 cM, cytoband A3
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr7:25629852-25658761 bp, - strand From NCBI annotation of GRCm38   28910 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:569  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

Protein SuperFamily: pyruvate dehydrogenase (lipoamide) alpha chain
Gene Tree: Bckdha

Human homologs

Human Homolog		BCKDHA, branched chain keto acid dehydrogenase E1, alpha polypeptide
NCBI Gene ID		593
neXtProt AC		NX_P12694
Human Synonyms		BCKDE1A, MSU, MSUD1, OVD1A
Human Chr (Location)		19q13.1-q13.2; chr19:41903694-41930910 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human BCKDHA

Alleles and phenotypes

All alleles(26) : Targeted(2) Gene trapped(24)

Gene Ontology (GO) classifications

All GO classifications: (10 annotations)

Process	branched-chain amino acid catabolic process, metabolic process
Component	mitochondrial alpha-ketoglutarate dehydrogenase complex, mitochondrion
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 (10)
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(186)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(187) cDNA(186) Primer pair(1)
Microarray probesets(3)

Other database links

Ensembl Gene Model	ENSMUSG00000060376 (Evidence)
Entrez Gene	12039 (Evidence)
UniGene	25848
DFCI	TC1572780
DoTS	DT.495479
NIA Mouse Gene Index	U237680
EC	1.2.4.4
Consensus CDS Project	CCDS52154.1
International Mouse Knockout Project Status	Bckdha

Sequences

Length	Strain/Species
genomic	12039	NCBI Gene Model | MGI Sequence Detail	28910	C57BL/6J
transcript	NM_007533	RefSeq | MGI Sequence Detail	1773	Not Specified
polypeptide	P50136	UniProt | EBI | MGI Sequence Detail	442	Not Applicable

All sequences(17) RefSeq(2) UniProt(3)

Polymorphisms

SNPs(91 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR001017	Dehydrogenase, E1 component
Protein Ontology	PR:000004686	2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial

Graphical View of Protein Domain Structure

References

(Earliest) J:160670 Frerman FE, et al., Leucine catabolism during the differentiation of 3T3-L1 cells. Expression of a mitochondrial enzyme system. J Biol Chem. 1983 Jun 10;258(11):7087-93
(Latest) J:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582
All references(41)

Other accession IDs

MGD-MRK-36277