PDK1 Gene Summary [Human]
Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostasis of carbohydrate fuels in mammals. The enzymatic activity is regulated by a phosphorylation/dephosphorylation cycle. Phosphorylation of PDH by a specific pyruvate dehydrogenase kinase (PDK) results in inactivation. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]
Details
| Type | Protein Coding |
| Official Symbol | PDK1 |
| Official Name | pyruvate dehydrogenase kinase 1 [Source:HGNC Symbol;Acc:HGNC:8809] |
| Ensembl ID | ENSG00000152256 |
| Bio databases IDs | |
| Aliases | pyruvate dehydrogenase kinase 1 |
| Synonyms | B830012B01, D530020C15RIK, PDHK1, Pyruvate dehydrogenase kinase -1, Pyruvate dehydrogenase kinase homolog, pyruvate dehydrogenase kinase, isoenzyme 1 |
| 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 PDK1 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
- protein serine/threonine kinase
- Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase
- protein kinase
- binding protein
- Histidine kinase-like ATPase domain
- [pyruvate dehydrogenase (lipoamide)] kinase
- ATP binding
- protein binding
- Histidine kinase-like ATPases
- identical protein binding
- Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase
Pathways
Biological processes and signaling networks where the PDK1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- Alzheimer disease
- splenomegaly
- Crohn disease
- chordoma
- bone cancer
- lung adenocarcinoma
- lung adenocarcinoma formation
- Huntington disease
- head and neck squamous cell carcinoma
role in cell
- expression in
- survival
- quantity
- activation in
- apoptosis
- invasion by
- phosphorylation in
- proliferation
- migration
- epithelial-mesenchymal transition
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
- Plasma Membrane
- Mitochondria
- mitochondrial matrix
- perikaryon
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PDK1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell proliferation
- regulation of glucose metabolic process
- induction of apoptosis by oxidative stress
- protein phosphorylation
- glucose metabolic process
- regulation of acetyl-CoA biosynthetic process from pyruvate
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- protein kinase activity
- pyruvate dehydrogenase (acetyl-transferring) kinase activity