DBT Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | DBT |
| Official Name | dihydrolipoamide branched chain transacylase E2 [Source:HGNC Symbol;Acc:HGNC:2698] |
| Ensembl ID | ENSG00000137992 |
| Bio databases IDs | |
| Aliases | dihydrolipoamide branched chain transacylase E2, dihydrolipoyllysine-residue (2-methylpropanoyl)transferase, lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial, branched chain 2-oxo-acid dehydrogenase complex component E2 |
| Synonyms | alpha-KGDH E2, BCATE2, BCDH-E2, BCKAD-E2, BCKD E2, BCKDH-E2, BCOADC-E2, D3Wsu60e, dihydrolipoamide branched chain transacylase E2, E2, E2B, E2 transacylase, Nuclear-encoded mitochondrial acyltransferase, α-KGDH E2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DBT often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ubiquitin protein ligase binding
- pyruvate dehydrogenase binding domain
- pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form
- enzyme
- protein binding
- dihydrolipoyllysine-residue (2-methylpropanoyl)transferase
- e3 binding domain
- Biotinyl_lipoyl_domains
- lipoyl domain
- dihydrolipoamide S-acetyltransferase
- sucB
- 2-oxoisovalerate dehydrogenase (acylating)
- hinge domain
- 2-oxoacid dehydrogenases acyltransferase (catalytic domain)
- Biotin-requiring enzyme
- 3-methyl-2-oxobutanoate dehydrogenase (lipoamide)
- subunit-binding domain
- Non-amino-acyl group acyltransferase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- liver cancer
- epithelial cancer
- maple syrup urine disease type 2
- maple syrup urine disease
- maple syrup urine disease type 1A
- hepatocellular carcinoma
- aminoaciduria
- dyspnea
role in cell
- activation in
- replication in
- killing
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- detergent resistant lipid raft fraction
- microtubule cytoskeleton
- Mitochondria
- cytosol
- mitochondrial matrix
- mitochondrial nucleoids
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DBT gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- branched chain family amino acid catabolic process
Cellular Component
Where in the cell the gene product is active
- microtubule cytoskeleton
- mitochondrial matrix
- cytoplasm
- oxoglutarate dehydrogenase complex
- mitochondrion
- cytosol
- mitochondrial nucleoid
Molecular Function
What the gene product does at the molecular level
- protein binding
- lipoic acid binding
- ubiquitin protein ligase binding
- acetyltransferase activity
- 2-oxoisovalerate dehydrogenase (acylating) activity
- dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity