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MGP000792

Record overview

MGPD IDMGP000792
Gene ID1629
SpeciesHomo sapiens (Human)
Gene Namedihydrolipoamide branched chain transacylase E2
Gene Symbol DBT
SynonymsE2; E2B; BCATE2; BCKADE2; BCKAD-E2; BCOADC-E2;
Alternate nameslipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial; 52 kDa mitochondrial autoantigen of primary biliary cirrhosis; BCKAD E2 subunit; E2 component of branched chain alpha-keto acid dehydrogenase complex; branched chain 2-oxo-acid dehydrogenase complex component E2; branched chain acyltransferase, E2 component; branched-chain alpha-keto acid dehydrogenase complex component E2; dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex; dihydrolipoyl transacylase; dihydrolipoyllysine-residue (2-methylpropanoyl)transferase; lipoamide acyltransferase component of mitochondrial branched-chain alpha-keto acid dehydrogenase complex; mitochondrial branched chain alpha-keto acid dehydrogenase transacylase subunit (E2b);
Chromosome1
Map Location1p31
EC Number2.3.1.168
SummaryThe 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]
OrthologsView orthologs and multiple alignments for DBT

Proteins

lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial precursor
Refseq ID:NP_001909
Protein GI:392494079
UniProt ID:P11182
mRNA ID:NM_001918
Length:482
RefSeq Status:
MAAVRMLRTWSRNAGKLICVRYFQTCGNVHVLKPNYVCFFGYPSFKYSHPHHFLKTTAALRGQVVQFKLSDIGEGIREVTVKEWYVKEGDTVSQFDSICE
VQSDKASVTITSRYDGVIKKLYYNLDDIAYVGKPLVDIETEALKDSEEDVVETPAVSHDEHTHQEIKGRKTLATPAVRRLAMENNIKLSEVVGSGKDGRI
LKEDILNYLEKQTGAILPPSPKVEIMPPPPKPKDMTVPILVSKPPVFTGKDKTEPIKGFQKAMVKTMSAALKIPHFGYCDEIDLTELVKLREELKPIAFA
RGIKLSFMPFFLKAASLGLLQFPILNASVDENCQNITYKASHNIGIAMDTEQGLIVPNVKNVQICSIFDIATELNRLQKLGSVGQLSTTDLTGGTFTLSN
IGSIGGTFAKPVIMPPEVAIGALGSIKAIPRFNQKGEVYKAQIMNVSWSADHRVIDGATMSRFSNLWKSYLENPAFMLLDLK
 
transit_peptide: 1..61
experiment: experimental evidence, no additional details recorded
note: Mitochondrion. {ECO:0000255}; propagated from UniProtKB/Swiss-Prot (P11182.3)
calculated_mol_wt: 7135
peptide sequence: 
MAAVRMLRTWSRNAGKLICVRYFQTCGNVHVLKPNYVCFFGYPSFKYSHPHHFLKTTAALR

mat_peptide: 62..482
product: Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial
experiment: experimental evidence, no additional details recorded
note: propagated from UniProtKB/Swiss-Prot (P11182.3)
calculated_mol_wt: 46370
peptide sequence: 
GQVVQFKLSDIGEGIREVTVKEWYVKEGDTVSQFDSICEVQSDKASVTITSRYDGVIKKLYYNLDDIAYVGKPLVDIETEALKDSEEDVVETPAVSHDEH
THQEIKGRKTLATPAVRRLAMENNIKLSEVVGSGKDGRILKEDILNYLEKQTGAILPPSPKVEIMPPPPKPKDMTVPILVSKPPVFTGKDKTEPIKGFQK
AMVKTMSAALKIPHFGYCDEIDLTELVKLREELKPIAFARGIKLSFMPFFLKAASLGLLQFPILNASVDENCQNITYKASHNIGIAMDTEQGLIVPNVKN
VQICSIFDIATELNRLQKLGSVGQLSTTDLTGGTFTLSNIGSIGGTFAKPVIMPPEVAIGALGSIKAIPRFNQKGEVYKAQIMNVSWSADHRVIDGATMS
RFSNLWKSYLENPAFMLLDLK
 
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