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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 Ensembl 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

HCOP human homology predictions: BCKDHA
Protein SuperFamily: pyruvate dehydrogenase (lipoamide) alpha chain
Gene Tree: Bckdha

Human
homologs
BCKDHA, branched chain keto acid dehydrogenase E1, alpha polypeptide
Orthology source: HGNC, HomoloGene

IDs:
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.p2

Disease Associations: (1) Diseases Associated with Human BCKDHA

Mutations,
alleles, and
phenotypes
All mutations/alleles(26) : Gene trapped(24) Targeted(2)
Incidental mutations (data from Mutagenetix , APF , CvDC )
Interactions
Bckdha interacts with 51 markers (Mir10a, Mir10b, Mir34a, ...)
Expression
Literature Summary: (2 records)
Data Summary: Results (107)    Tissues (107)    Images (10)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
RT-PCR 13
cDNA source data(187)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase bckdha ; ZFIN bckdha    NEW 
Molecular
reagents
All nucleic(188) cDNA(187) 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 Phenotyping Consortium Status Bckdha
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000060376 Ensembl Gene Model | MGI Sequence Detail 28910 C57BL/6J ±  kb
transcript ENSMUST00000071329 Ensembl | MGI Sequence Detail 1773 Not Applicable 
polypeptide ENSMUSP00000071292 Ensembl | MGI Sequence Detail 446 Not Applicable 

For the selected sequences
All sequences(20) RefSeq(5) UniProt(3)
Polymorphisms
SNPs within 2kb(151 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001017 Dehydrogenase, E1 component
InterPro IPR029061 Thiamin diphosphate-binding fold
Protein Ontology PR:000004686 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial
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(40)
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
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory