LMPD Database

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LMP002817

UniProt Annotations

Entry Information
Gene Namebranched chain ketoacid dehydrogenase kinase
Protein EntryBCKD_MOUSE
UniProt IDO55028
SpeciesMouse
Comments
Comment typeDescription
Catalytic ActivityATP + [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] = ADP + [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] phosphate.
Disruption PhenotypeMutant animals are born at the expected Mendelian ratio, but they exhibit a decreased fertility. They are healthy at birth. At 3 weeks of age, they start showing growth retardation. At 12 weeks, they are 15% smaller than their wild- type littermates. Adults develop neurological abnormalities, such as tremors, epileptic seizures and hindlimb clasping. These neurological deficits can be completely abolished when mice are fed with a diet enriched in branched amino acids. {ECO:0000269|PubMed:16875466, ECO:0000269|PubMed:22956686}.
FunctionCatalyzes 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}.
InductionExpression in female liver is influenced by circadian rhythm.
PtmAutophosphorylated. {ECO:0000250}.
SimilarityBelongs to the PDK/BCKDK protein kinase family. {ECO:0000305}.
SimilarityContains 1 histidine kinase domain. {ECO:0000255|PROSITE-ProRule:PRU00107}.
Subcellular LocationMitochondrion matrix.
SubunitMonomer. {ECO:0000250}.
Tissue SpecificityUbiquitous.