InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BCKDK

Summary

InnateDB Protein

IDBP-240523.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

BCKDK

Protein Name

branched chain ketoacid dehydrogenase kinase

Synonyms

BCKDKD; BDK;

Species

Homo sapiens

Ensembl Protein

ENSP00000378405

InnateDB Gene

IDBG-27748 (BCKDK)

Protein Structure

UniProt Annotation

Function

Catalyzes the phosphorylation and inactivation of the branched-chain alpha-ketoacid dehydrogenase complex, the key regulatory enzyme of the valine, leucine and isoleucine catabolic pathways. Key enzyme that regulate the activity state of the BCKD complex (By similarity). {ECO:0000250}.

Subcellular Localization

Mitochondrion matrix.

Disease Associations

Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD) [MIM:614923]: A metabolic disorder characterized by autism, epilepsy, intellectual disability, and reduced branched- chain amino acids. {ECO:0000269PubMed:22956686}. Note=The disease is caused by mutations affecting the gene represented in this entry. A diet enriched in branched amino acids (BCAAs) allows to normalize plasma BCAA levels. This suggests that it may be possible to treat patients with mutations in BCKDK with BCAA supplementation.

Tissue Specificity

Ubiquitous.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 20 experimentally validated interaction(s) in this database.

Experimentally validated
Total	20 [view]
Protein-Protein	18 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004672	protein kinase activity
GO:0004674	protein serine/threonine kinase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0016301	kinase activity
GO:0047323	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity

Biological Process

GO:0009063	cellular amino acid catabolic process
GO:0009083	branched-chain amino acid catabolic process
GO:0016310	phosphorylation

Cellular Component

GO:0005739	mitochondrion
GO:0005947	mitochondrial alpha-ketoglutarate dehydrogenase complex

Protein Structure and Domains

PDB ID

InterPro

IPR003594 Histidine kinase-like ATPase, C-terminal domain
IPR004358 Signal transduction histidine kinase-related protein, C-terminal
IPR005467 Signal transduction histidine kinase, core
IPR018955 Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal

PFAM

PF02518
PF13581
PF10436

PRINTS

PR00344

PIRSF

SMART

SM00387

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt