Gene/Proteome Database (LMPD)

LMPD ID
LMP001763
Gene ID
1629
Species
Homo sapiens (Human)
Gene Name
dihydrolipoamide branched chain transacylase E2
Gene Symbol
DBT
Synonyms
BCATE2; BCKAD-E2; BCKADE2; E2; E2B
Alternate Names
lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial; BCKAD E2 subunit; dihydrolipoyl transacylase; branched chain acyltransferase, E2 component; dihydrolipoyllysine-residue (2-methylpropanoyl)transferase; branched-chain alpha-keto acid dehydrogenase complex component E2; E2 component of branched chain alpha-keto acid dehydrogenase complex; mitochondrial branched chain alpha-keto acid dehydrogenase transacylase subunit (E2b); dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex; lipoamide acyltransferase component of mitochondrial branched-chain alpha-keto acid dehydrogenase complex
Chromosome
1
Map Location
1p31
EC Number
2.3.1.168
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]
Orthologs
View 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 REVIEWED
MAAVRMLRTWSRNAGKLICVRYFQTCGNVHVLKPNYVCFFGYPSFKYSHPHHFLKTTAALRGQVVQFKLSDIGEGIREVTVKEWYVKEGDTVSQFDSICEVQSDKASVTITSRYDGVIKKLYYNLDDIAYVGKPLVDIETEALKDSEEDVVETPAVSHDEHTHQEIKGRKTLATPAVRRLAMENNIKLSEVVGSGKDGRILKEDILNYLEKQTGAILPPSPKVEIMPPPPKPKDMTVPILVSKPPVFTGKDKTEPIKGFQKAMVKTMSAALKIPHFGYCDEIDLTELVKLREELKPIAFARGIKLSFMPFFLKAASLGLLQFPILNASVDENCQNITYKASHNIGIAMDTEQGLIVPNVKNVQICSIFDIATELNRLQKLGSVGQLSTTDLTGGTFTLSNIGSIGGTFAKPVIMPPEVAIGALGSIKAIPRFNQKGEVYKAQIMNVSWSADHRVIDGATMSRFSNLWKSYLENPAFMLLDLK
transit_peptide: 1..61 inference: non-experimental evidence, no additional details recorded note: Mitochondrion (Potential); 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: GQVVQFKLSDIGEGIREVTVKEWYVKEGDTVSQFDSICEVQSDKASVTITSRYDGVIKKLYYNLDDIAYVGKPLVDIETEALKDSEEDVVETPAVSHDEHTHQEIKGRKTLATPAVRRLAMENNIKLSEVVGSGKDGRILKEDILNYLEKQTGAILPPSPKVEIMPPPPKPKDMTVPILVSKPPVFTGKDKTEPIKGFQKAMVKTMSAALKIPHFGYCDEIDLTELVKLREELKPIAFARGIKLSFMPFFLKAASLGLLQFPILNASVDENCQNITYKASHNIGIAMDTEQGLIVPNVKNVQICSIFDIATELNRLQKLGSVGQLSTTDLTGGTFTLSNIGSIGGTFAKPVIMPPEVAIGALGSIKAIPRFNQKGEVYKAQIMNVSWSADHRVIDGATMSRFSNLWKSYLENPAFMLLDLK

Gene Information

Entrez Gene ID
1629
Gene Name
dihydrolipoamide branched chain transacylase E2
Gene Symbol
DBT
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005947 TAS:ProtInc C mitochondrial alpha-ketoglutarate dehydrogenase complex
GO:0005759 TAS:Reactome C mitochondrial matrix
GO:0042645 IDA:BHF-UCL C mitochondrial nucleoid
GO:0005739 IDA:HPA C mitochondrion
GO:0043754 IEA:UniProtKB-EC F dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity
GO:0009083 TAS:Reactome P branched-chain amino acid catabolic process
GO:0034641 TAS:Reactome P cellular nitrogen compound metabolic process
GO:0044281 TAS:Reactome P small molecule metabolic process

BIOCYC Pathway Links

BIOCYC Pathway ID Description
PWY-5046 2-oxoisovalerate decarboxylation to isobutanoyl-CoA
ILEUDEG-PWY isoleucine degradation I
PYRUVDEHYD-PWY pyruvate decarboxylation to acetyl CoA

Domain Information

InterPro Annotations

Accession Description
IPR003016 2-oxo acid dehydrogenase, lipoyl-binding site
IPR001078 2-oxoacid dehydrogenase acyltransferase, catalytic domain
IPR000089 Biotin/lipoyl attachment
IPR023213 Chloramphenicol acetyltransferase-like domain
IPR004167 E3-binding domain
IPR015761 Lipoamide Acyltransferase
IPR011053 Single hybrid motif

UniProt Annotations

Entry Information

Gene Name
dihydrolipoamide branched chain transacylase E2
Protein Entry
ODB2_HUMAN
UniProt ID
P11182
Species
Human

Comments

Comment Type Description
Catalytic Activity 2-methylpropanoyl-CoA + enzyme N(6)- (dihydrolipoyl)lysine = CoA + enzyme N(6)-(S-(2- methylpropanoyl)dihydrolipoyl)lysine.
Cofactor Name=(R)-lipoate; Xref=ChEBI
Disease Maple syrup urine disease 2 (MSUD2) [MIM
Function The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). Within this complex, the catalytic function of this enzyme is to accept, and to transfer to coenzyme A, acyl groups that are generated by the branched-chain alpha-keto acid decarboxylase component.
Sequence Caution Sequence=AAA35589.1; Type=Erroneous initiation; Evidence= ; Sequence=AAA64512.1; Type=Erroneous initiation; Evidence= ;
Similarity Belongs to the 2-oxoacid dehydrogenase family.
Similarity Contains 1 lipoyl-binding domain.
Subcellular Location Mitochondrion matrix.
Subunit Forms a 24-polypeptide structural core with octahedral symmetry.

Identical and Related Proteins

Unique RefSeq proteins for LMP001763 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
392494079 RefSeq NP_001909 482 lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial precursor

Identical Sequences to LMP001763 proteins

Reference Database Accession Length Protein Name
GI:392494079 DBBJ BAG36008.1 482 unnamed protein product [Homo sapiens]
GI:392494079 GenBank AAP36036.1 482 dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease) [Homo sapiens]
GI:392494079 GenBank AAV20645.1 482 Sequence 905 from patent US 6753314
GI:392494079 GenBank AAX41783.1 482 dihydrolipoamide branched chain transacylase [synthetic construct]
GI:392494079 GenBank AAX41784.1 482 dihydrolipoamide branched chain transacylase [synthetic construct]
GI:392494079 GenBank EAW72963.1 482 dihydrolipoamide branched chain transacylase E2 [Homo sapiens]

Related Sequences to LMP001763 proteins

Reference Database Accession Length Protein Name
GI:392494079 GenBank JAA15415.1 482 dihydrolipoamide branched chain transacylase E2 [Pan troglodytes]
GI:392494079 GenBank JAA15416.1 482 dihydrolipoamide branched chain transacylase E2 [Pan troglodytes]
GI:392494079 GenBank JAA15417.1 482 dihydrolipoamide branched chain transacylase E2 [Pan troglodytes]
GI:392494079 GenBank JAA25599.1 482 dihydrolipoamide branched chain transacylase E2 [Pan troglodytes]
GI:392494079 GenBank JAA25600.1 482 dihydrolipoamide branched chain transacylase E2 [Pan troglodytes]
GI:392494079 RefSeq XP_004026244.1 482 PREDICTED: lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial [Gorilla gorilla gorilla]