Gene
bckdk
- ID
- ZDB-GENE-021204-1
- Name
- branched chain ketoacid dehydrogenase kinase
- Symbol
- bckdk Nomenclature History
- Previous Names
-
- cb233 (1)
- wu:fa04g07
- wu:fb80b08
- zgc:55984
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to have protein serine/threonine kinase activity. Predicted to be involved in glucose homeostasis and negative regulation of pyruvate dehydrogenase activity. Predicted to localize to mitochondrion. Human ortholog(s) of this gene implicated in branched-chain keto acid dehydrogenase kinase deficiency. Is expressed in several structures, including midbrain neural keel; midbrain neural rod; neural plate; pancreatic system; and primary neurons. Orthologous to human BCKDK (branched chain keto acid dehydrogenase kinase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 12 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb233 (13 images)
- IMAGE:7148750 (7 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| branched-chain keto acid dehydrogenase kinase deficiency | Alliance | Branched-chain keto acid dehydrogenase kinase deficiency | 614923 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR003594 | Histidine kinase/HSP90-like ATPase domain |
| Domain | IPR004358 | Signal transduction histidine kinase-related protein, C-terminal |
| Domain | IPR005467 | Histidine kinase domain |
| Domain | IPR018955 | Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal |
| Family | IPR039028 | PDK/BCKDK protein kinase |
| Homologous_superfamily | IPR036784 | Alpha-ketoacid/pyruvate dehydrogenase kinase, N-terminal domain superfamily |
| Homologous_superfamily | IPR036890 | Histidine kinase/HSP90-like ATPase superfamily |
Domain Details Per Protein
| Protein | Length | Alpha-ketoacid/pyruvate dehydrogenase kinase, N-terminal domain superfamily | Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal | Histidine kinase domain | Histidine kinase/HSP90-like ATPase domain | Histidine kinase/HSP90-like ATPase superfamily | PDK/BCKDK protein kinase | Signal transduction histidine kinase-related protein, C-terminal |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:B0R159
|
428 |
Interactions and Pathways
No data available
Plasmids
No data available