BCKDK Gene Summary [Human]
The branched-chain alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and isoleucine catabolic pathways. The protein encoded by this gene is found in the mitochondrion, where it phosphorylates and inactivates BCKD. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Details
| Type | Protein Coding |
| Official Symbol | BCKDK |
| Official Name | branched chain keto acid dehydrogenase kinase [Source:HGNC Symbol;Acc:HGNC:16902] |
| Ensembl ID | ENSG00000103507 |
| Bio databases IDs | |
| Aliases | branched chain keto acid dehydrogenase kinase |
| Synonyms | 3-Methyl-2-Oxobutanoate Dehydrogenase Kinase, BCKDHKIN, BCKDKD, BDK, branched chain keto acid dehydrogenase kinase |
| 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 BCKDK often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- kinase
- [3-methyl-2-oxobutanoate dehydrogenase (lipoamide)] kinase
- Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase
- protein serine/threonine kinase
- protein kinase
- Histidine kinase-like ATPase domain
- ATP binding
- protein binding
- Histidine kinase-like ATPases
- Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- Alzheimer disease
- branched-chain ketoacid dehydrogenase kinase deficiency
- organismal death
- Parkinson disease
- metastasis
- mental retardation
- breast cancer
role in cell
- formation in
- proliferation
- apoptosis
- phosphorylation in
- cell death
- formation
- expression in
- production in
- quantity
- survival
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
- Mitochondria
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BCKDK gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular amino acid catabolic process
- branched chain family amino acid catabolic process
- regulation of glucose metabolic process
- lipid biosynthetic process
- negative regulation of cellular amino acid metabolic process
- phosphorylation
- protein phosphorylation
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- oxoglutarate dehydrogenase complex
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- protein serine/threonine phosphatase activity
- ATP binding
- protein binding
- [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity
- pyruvate dehydrogenase (acetyl-transferring) kinase activity
- protein serine/threonine kinase activity
- kinase activity