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DBT (dihydrolipoamide branched chain transacylase E2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1629
Gene nameGene Name - the full gene name approved by the HGNC.
Dihydrolipoamide branched chain transacylase E2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
DBT
SynonymsGene synonyms aliases
BCATE2, BCKAD-E2, BCKADE2, BCKDH-E2, BCOADC-E2, E2, E2B
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p21.2
SummarySummary of gene provided in NCBI Entrez Gene.
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]
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs12021720 T>A,C Pathogenic, benign Missense variant, genic downstream transcript variant, coding sequence variant
rs74103423 C>A Pathogenic Stop gained, non coding transcript variant, coding sequence variant
rs75525811 T>C Uncertain-significance, conflicting-interpretations-of-pathogenicity Missense variant, genic downstream transcript variant, coding sequence variant
rs121964999 A>C Pathogenic-likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity Non coding transcript variant, missense variant, coding sequence variant
rs121965000 C>A Pathogenic Genic downstream transcript variant, terminator codon variant, stop lost
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023019 hsa-miR-124-3p Microarray 18668037
MIRT024650 hsa-miR-215-5p Microarray 19074876
MIRT026763 hsa-miR-192-5p Microarray 19074876
MIRT043092 hsa-miR-324-5p CLASH 23622248
MIRT440848 hsa-miR-374a-5p HITS-CLIP 22473208
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005739 Component Mitochondrion IBA 21873635
GO:0005739 Component Mitochondrion IDA
GO:0005759 Component Mitochondrial matrix TAS
GO:0005829 Component Cytosol IDA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P11182
Protein name Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial (EC 2.3.1.168) (52 kDa mitochondrial autoantigen of primary biliary cirrhosis) (Branched chain 2-oxo-acid dehydrogenase complex component E2) (BCOADC-E2) (Branched-chain alpha-keto acid dehydrogenase complex component E2) (BCKAD-E2) (BCKADE2) (Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex) (Dihydrolipoamide branched chain transacylase) (Dihydrolipoyllysine-residue (2-methylpropanoyl)transferase)
Protein 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.
PDB 1K8M , 1K8O , 1ZWV , 2COO , 3RNM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00364 Biotin_lipoyl
65 138
Biotin-requiring enzyme
Domain
PF02817 E3_binding
171 206
e3 binding domain
Family
PF00198 2-oxoacid_dh
248 479
2-oxoacid dehydrogenases acyltransferase (catalytic domain)
Domain
Sequence
Sequence length 482
Interactions View interactions

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