Version 5.4
Mus musculus Gene: Bckdhb
Summary
InnateDB Gene IDBG-188832.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Bckdhb
Gene Name branched chain ketoacid dehydrogenase E1, beta polypeptide
Synonyms
Species Mus musculus
Ensembl Gene ENSMUSG00000032263
Encoded Proteins
IDBP-188834
branched chain ketoacid dehydrogenase E1, beta polypeptide
IDBP-788592
branched chain ketoacid dehydrogenase E1, beta polypeptide
IDBP-788593
branched chain ketoacid dehydrogenase E1, beta polypeptide
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000083123:
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 9:83925145-84124240
Strand Forward strand
Band E2
Transcripts
ENSMUST00000034801 ENSMUSP00000034801
ENSMUST00000190637 ENSMUSP00000139684
ENSMUST00000190166 ENSMUSP00000140598
ENSMUST00000189819
ENSMUST00000188200
ENSMUST00000186136
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 0
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
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:0032403 protein complex binding
Biological Process
GO:0007584 response to nutrient
GO:0008152 metabolic process
GO:0009063 cellular amino acid catabolic process
GO:0009083 branched-chain amino acid catabolic process
GO:0051384 response to glucocorticoid
GO:0051591 response to cAMP
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005947 mitochondrial alpha-ketoglutarate dehydrogenase complex
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000083123
View Gene Order
ENSBTAG00000012096
Not yet available
Pathways
NETPATH
REACTOME
REACT_188937
Metabolism pathway
REACT_232845
Metabolism of amino acids and derivatives pathway
REACT_254568
Branched-chain amino acid catabolism pathway
KEGG
mmu00280
Valine, leucine and isoleucine degradation pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
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 Q6P3A8
TrEMBL
UniProt Splice Variant
Entrez Gene 12040
UniGene Mm.12819
RefSeq NM_199195 XM_006510785 XM_006510787
OMIM
CCDS CCDS23378
HPRD
IMGT
MGI ID MGI:88137
MGI Symbol Bckdhb
EMBL BC064099 L16992
GenPept AAH64099
RNA Seq Atlas 12040

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