Version 5.4
Homo sapiens Gene: BCKDHA
Summary
InnateDB Gene IDBG-409016.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BCKDHA
Gene Name branched chain keto acid dehydrogenase E1, alpha polypeptide
Synonyms BCKDE1A; MSU; MSUD1; OVD1A
Species Homo sapiens
Ensembl Gene ENSG00000248098
Encoded Proteins
IDBP-52888
branched chain keto acid dehydrogenase E1, alpha polypeptide
IDBP-380656
branched chain keto acid dehydrogenase E1, alpha polypeptide
IDBP-584461
branched chain keto acid dehydrogenase E1, alpha polypeptide
IDBP-591446
branched chain keto acid dehydrogenase E1, alpha polypeptide
IDBP-601649
branched chain keto acid dehydrogenase E1, alpha polypeptide
IDBP-759745
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:41397460-41431345
Strand Forward strand
Band q13.2
Transcripts
ENST00000269980 ENSP00000269980
ENST00000457836 ENSP00000416000
ENST00000538423
ENST00000542943 ENSP00000440345
ENST00000541315 ENSP00000445809
ENST00000535632
ENST00000545787
ENST00000544905 ENSP00000445727
ENST00000595085 ENSP00000471150
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 4 [view]
Protein-DNA 4 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003826 alpha-ketoacid dehydrogenase activity
GO:0003863 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity
GO:0005515 protein binding
GO:0016624 oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor
GO:0016831 carboxy-lyase activity
GO:0046872 metal ion binding
Biological Process
GO:0008152 metabolic process
GO:0009083 branched-chain amino acid catabolic process
GO:0034641 cellular nitrogen compound metabolic process
GO:0044281 small molecule metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005947 mitochondrial alpha-ketoglutarate dehydrogenase complex
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
REACT_197
Branched-chain amino acid catabolism pathway
REACT_13
Metabolism of amino acids and derivatives pathway
REACT_111217
Metabolism pathway
KEGG
hsa00280
Valine, leucine and isoleucine degradation pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_000709 NM_001164783
HUGO
OMIM
CCDS CCDS12581
HPRD 02009
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca