2. Gene
  3. DBT - dihydrolipoamide branched chain transacylase E2 Gene

DBT - dihydrolipoamide branched chain transacylase E2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as E2; E2B; BCATE2; BCKADE2; BCKAD-E2; BCKDH-E2; BCOADC-E2

Gene ID: 1629 | Gene type: protein coding

About DBT

Cytogenetic location: 1p21.2 Genomic coordinates (GRCh38): 1:100,186,919-100,249,834 (from NCBI)

This gene has 4 transcripts (splice variants), 221 orthologues, 3 paralogues and is associated with 6 phenotypes. Ubiquitous expression in kidney (RPKM 5.8), thyroid (RPKM 4.4) and 25 other tissues.

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]

DBT Products(3)

mRNA Protein Name
NM_001399969.1 NP_001386898.1 lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 2
NM_001399972.1 NP_001386901.1 lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 2
NM_001918.5 NP_001909.4 lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 1 precursor
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
contributes to branched-chain alpha-keto acid dehydrogenase activity IDA
IDA: Inferred from direct assay
3593587 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
22291014 GOA
enables ubiquitin protein ligase binding IPI
IPI: Inferred from physical interaction
19725078 GOA
Biological Process GO Annotation Evidence Reference Source
involved in branched-chain amino acid catabolic process IDA
IDA: Inferred from direct assay
3593587 GOA
Cellular Component GO Annotation Evidence Reference Source
part of branched-chain alpha-ketoacid dehydrogenase complex IPI
IPI: Inferred from physical interaction
3593587 GOA
located in mitochondrial nucleoid IDA
IDA: Inferred from direct assay
18063578 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DBT Protein Structure

Biotin_lipoyl

Biotin_lipoyl: Biotin-requiring enzyme (66 - 138)

E3_binding

E3_binding: e3 binding domain (170 - 207)

2-oxoacid_dh

2-oxoacid_dh: 2-oxoacid dehydrogenases acyltransferase (catalytic domain) (250 - 479)

  • 0
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  • 400
  • 482 a.a.
Protein Preferred Names Protein Names

lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial

52 kDa mitochondrial autoantigen of primary biliary cirrhosis

Recombinant DBT Proteins

Cat. No. Product Name Accession Purity
HY-P74207 DBT Protein, Human (sf9, His) P11182 (G62-K482) ≥95%

Related Diseases

Diseases Alias
Maple Syrup Urine Disease

MSUD

Bckd Deficiency

Branched-Chain Ketoaciduria

Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency

Keto Acid Decarboxylase Deficiency

Maple Syrup Urine Disease, Type Ii

Branched Chain Ketoaciduria

Classic Maple Syrup Urine Disease

Intermittent Maple Syrup Urine Disease

Maple Syrup Urine Disease, Type Ia

Ketoacidaemia

Bckdh Deficiency

Branched-Chain 2-Ketoacid Dehydrogenase Deficiency

Thiamine-Responsive Maple Syrup Urine Disease

Intermediate Maple Syrup Urine Disease

Maple Syrup Urine Disease Type 1a

Maple Syrup Urine Disease Type 1b

Maple Syrup Urine Disease Type 2

Maple Syrup Urine Disease, Type Ib

Dihydrolipoamide Dehydrogenase Deficiency

Branched-Chain Ketoacid Dehydrogenase Deficiency

Maple Syrup Disease

Ketoacidemia

Classic Bckd Deficiency

Classic Msud

Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

Classic Branched-Chain Ketoaciduria

Thiamine-Responsive Bckd Deficiency

Thiamine-Responsive Msud

Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

Intermittent Bckd Deficiency

Intermittent Msud

Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

Maple Syrup Urine Disease 1a

MSUD1A

Maple Syrup Urine Disease Type Ia

Msud Type Ia

Maple Syrup Urine Disease 1b

MSUD1B

Maple Syrup Urine Disease Type Ib

Msud Type Ib

Maple Syrup Urine Disease 2

MSUD2

Maple Syrup Urine Disease Type Ii

Msud Type Ii

Nadh Cytochrome B5 Reductase Deficiency

Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency

Ketonemia

Maple Syrup Urine Disease, Type 1b

Ketoacid Decarboxylase Deficiency

Oxoacid Decarboxylase Deficiency

Branched Chain Ketoacid Dehydrogenase Deficiency

Msud - [Maple-Syrup-Urine Disease]

Ketoaminoacidaemia

Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency]

Maple-Syrup-Urine Disorder

Maple-Syrup-Urine Syndrome
Intermediate Maple Syrup Urine Disease

Intermediate Bckd Deficiency

Intermediate Msud

Intermediate Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
Autoimmune Cholangitis

Autoimmune Cholangiopathy
Barth Syndrome

3-Methylglutaconic Aciduria Type 2

BTHS

Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria

Mga Type Ii

Mga2

Mgca2

Mga Type 2

3-Methylglutaconic Aciduria Type Ii

3-Methylglutaconic Aciduria, Type Ii

Mga, Type Ii

3-Methylglutaconicaciduria Type 2

3-Methylglutaconicaciduria Type Ii

Taz Defect

3 Methylglutaconic Aciduria, Type Ii

Dnajc19 Defect

Cardioskeletal Myopathy-Neutropenia Syndrome

X-Linked Cardioskeletal Myopathy And Neutropenia

3-Alpha-Methylglutaconic Aciduria Type 2

Agm2

Cardioskeletal Myopathy-Neutropenia

Invm

Left Ventricular Non-Compaction Isolated X-Linked

Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked

Agammaglobulinemia 2, Autosomal Recessive
Shipyard Eye

Epidemic Keratoconjunctivitis

Ekc
Primary Biliary Cholangitis

Primary Biliary Cirrhosis

Biliary Liver Cirrhosis

Chronic Nonsuppurative Destructive Cholangitis

Familial Primary Biliary Cirrhosis

Pbc

Hanot Syndrome

Cholestatic Cirrhosis

Biliary Cirrhosis Primary

Liver Cirrhosis, Biliary

Hanot'S Cirrhosis

Biliary Cirrhosis

Pericholangiolic Biliary Cirrhosis

Tannhauser-Magendantz Syndrome

Hanot-Rossle Syndrome

Hypertrophic Cirrhosis

Todd Cirrhosis

Hanot Cirrhosis

Charcot Cirrhosis

Mahon-Tannhauser Syndrome

Toxic Cirrhosis

Hypertrophic Biliary Cirrhosis

Monolobular Cirrhosis

Unilobar Cirrhosis

Xanthomatous Biliary Cirrhosis
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (4)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-109195 Vebicorvir Inhibitor 99.73% Unkown
HY-B0973 Dibenzothiophene 99.47% Unkown
HY-156746 DBt-10 Degrader / Unkown
HY-RS03554 DBT Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris DBT VGNC VGNC:39787
Bos taurus DBT VGNC VGNC:27896
Mus musculus DBT MGD MGI:105386
Rattus norvegicus DBT RGD RGD:68403
Macaca mulatta DBT VGNC VGNC:71744
Felis catus DBT VGNC VGNC:61351
Others DBT NCBI