InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: DBT

Summary

InnateDB Gene

IDBG-100499.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DBT

Gene Name

dihydrolipoamide branched chain transacylase E2

Synonyms

BCATE2; BCKAD-E2; BCKADE2; E2; E2B

Species

Homo sapiens

Ensembl Gene

ENSG00000137992

Encoded Proteins

IDBP-100501

dihydrolipoamide branched chain transacylase E2

IDBP-100503

dihydrolipoamide branched chain transacylase E2

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 1:100186919-100249834

Strand

Reverse strand

Band

p21.2

Transcripts

ENST00000370132	ENSP00000359151
ENST00000370131	ENSP00000359150

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	14 [view]
Protein-Protein	13 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0016746	transferase activity, transferring acyl groups
GO:0043754	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity

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

Cellular Component

GO:0005739	mitochondrion
GO:0005759	mitochondrial matrix
GO:0005947	mitochondrial alpha-ketoglutarate dehydrogenase complex
GO:0042645	mitochondrial nucleoid

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000000340

View Gene Order

ENSBTAG00000006320

Not yet available

Pathways

NETPATH

NetPath_2

AndrogenReceptor pathway

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

P11182

TrEMBL

Q5VVL7

UniProt Splice Variant

Entrez Gene

1629

UniGene

Hs.709187

RefSeq

NM_001918 XM_005270546

HUGO

HGNC:2698

OMIM

248610

CCDS

CCDS767

HPRD

IMGT

EMBL

AK313191 AL445928 BC016675 BT007372 CH471097 J03208 M19301 M27093 X66785 X68104

GenPept

AAA35589 AAA59200 AAA64512 AAH16675 AAP36036 BAG36008 CAA47285 CAA48225 CAH72257 EAW72963

RNA Seq Atlas

1629