Version 5.4
Homo sapiens Gene: BCKDHB
Summary
InnateDB Gene IDBG-93562.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BCKDHB
Gene Name branched chain keto acid dehydrogenase E1, beta polypeptide
Synonyms dJ279A18.1; E1B
Species Homo sapiens
Ensembl Gene ENSG00000083123
Encoded Proteins
IDBP-93564
branched chain keto acid dehydrogenase E1, beta polypeptide
IDBP-93566
branched chain keto acid dehydrogenase E1, beta polypeptide
IDBP-93568
branched chain keto acid dehydrogenase E1, beta polypeptide
IDBP-590063
branched chain keto acid dehydrogenase E1, beta polypeptide
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation, and feeding problems. Alternative splicing at this locus results in transcript variants with different 3' non-coding regions, but encoding the same isoform. [provided by RefSeq, Jul 2008]
Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation, and feeding problems. Alternative splicing at this locus results in transcript variants with different 3\' non-coding regions, but encoding the same isoform. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:80106647-80346270
Strand Forward strand
Band q14.1
Transcripts
ENST00000320393 ENSP00000318351
ENST00000356489 ENSP00000348880
ENST00000369760 ENSP00000358775
ENST00000486968
ENST00000468520
ENST00000491328
ENST00000545529 ENSP00000443564
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 2 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0003826 alpha-ketoacid dehydrogenase activity
GO:0003863 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity
GO:0005515 protein binding
GO:0016831 carboxy-lyase activity
GO:0032403 protein complex binding
Biological Process
GO:0007584 response to nutrient
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:0051384 response to glucocorticoid
GO:0051591 response to cAMP
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005947 mitochondrial alpha-ketoglutarate dehydrogenase complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000032263
View Gene Order
ENSBTAG00000012096
Not yet available
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 Q5T2J3
UniProt Splice Variant
Entrez Gene 594
UniGene Hs.654441
RefSeq NM_000056 NM_183050 XM_006715542
HUGO HGNC:987
OMIM 248611
CCDS CCDS4994
HPRD 02011
IMGT
EMBL AL049696 AL391595 BC034481 CH471051
GenPept AAH34481 EAW48698
RNA Seq Atlas 594

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