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MT000767

UniProt Annotations

Entry Information

Gene Name	branched chain ketoacid dehydrogenase kinase
Protein Entry	BCKD_HUMAN
UniProt ID	O14874
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O14874-1; Sequence=Displayed; Name=2; IsoId=O14874-2; Sequence=VSP_054604, VSP_054605; Note=No experimental confirmation available.; Name=3; IsoId=O14874-3; Sequence=VSP_054605; Note=No experimental confirmation available.;
Catalytic Activity	ATP + [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] = ADP + [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] phosphate.
Disease	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:0000269\|PubMed: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.
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}.
Interaction	Q9WMX2:- (xeno); NbExp=2; IntAct=EBI-1046765, EBI-6863741; P40763:STAT3; NbExp=2; IntAct=EBI-1046765, EBI-518675;
Ptm	Autophosphorylated. {ECO:0000250}.
Similarity	Belongs to the PDK/BCKDK protein kinase family. {ECO:0000305}.
Similarity	Contains 1 histidine kinase domain. {ECO:0000255\|PROSITE-ProRule:PRU00107}.
Subcellular Location	Mitochondrion matrix.
Subunit	Monomer. {ECO:0000250}.
Tissue Specificity	Ubiquitous.
Web Resource	Name=Protein Spotlight; Note=The silence within - Issue 147 of March 2013; URL="http://web.expasy.org/spotlight/back_issues/147";