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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; chr19:41397789-41425005 (+)  GRCh38
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: (12 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 TypeResults
RNA in situ 94
RT-PCR 13
cDNA source data(187)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(188) cDNA(187) Primer pair(1)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000060376 (Evidence)
Entrez Gene12039 (Evidence)
UniGene25848
DFCITC1572780
DoTSDT.495479
NIA Mouse Gene IndexU237680
EC1.2.4.4
Consensus CDS ProjectCCDS52154.1
International Mouse Knockout Project StatusBckdha
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 12039 NCBI Gene Model | MGI Sequence Detail 28910 C57BL/6J ±  kb
transcript NM_007533 RefSeq | MGI Sequence Detail 1773 Not Specified 
polypeptide P50136 UniProt | EBI | MGI Sequence Detail 442 Not Applicable 

For the selected sequences
All sequences(19) RefSeq(4) UniProt(3)
Polymorphisms SNPs within 2kb(151 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory