Entity Details

Primary name BCKD_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO14874
EntryNameBCKD_HUMAN
FullName[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length412
SequenceStatuscomplete
DateCreated1998-07-15
DateModified2021-06-02

Ontological Relatives

GenesBCKDK

GO terms

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GOName
GO:0004674 protein serine/threonine kinase activity
GO:0004740 pyruvate dehydrogenase (acetyl-transferring) kinase activity
GO:0005524 ATP binding
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005947 mitochondrial alpha-ketoglutarate dehydrogenase complex
GO:0006468 protein phosphorylation
GO:0006550 isoleucine catabolic process
GO:0006552 leucine catabolic process
GO:0006574 valine catabolic process
GO:0007283 spermatogenesis
GO:0009063 cellular amino acid catabolic process
GO:0009083 branched-chain amino acid catabolic process
GO:0010906 regulation of glucose metabolic process
GO:0016301 kinase activity
GO:0016310 phosphorylation
GO:0045763 negative regulation of cellular amino acid metabolic process
GO:0047323 [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity

Subcellular Location

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Subcellular Location
Mitochondrion
Mitochondrion matrix

Domains

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DomainNameCategoryType
IPR003594 Histidine kinase/HSP90-like ATPaseDomainDomain
IPR004358 Signal transduction histidine kinase-related protein, C-terminalDomainDomain
IPR005467 Histidine kinase domainDomainDomain
IPR018955 Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminalDomainDomain
IPR036784 Alpha-ketoacid/pyruvate dehydrogenase kinase, N-terminal domain superfamilyFamilyHomologous superfamily
IPR036890 Histidine kinase/HSP90-like ATPase superfamilyFamilyHomologous superfamily
IPR039028 PDK/BCKDK protein kinaseFamilyFamily

Diseases

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Disease IDSourceNameDescription
614923 OMIMBranched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD)A metabolic disorder characterized by autism, epilepsy, intellectual disability, and reduced branched-chain amino acids. The disease is caused by variants 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.

Drugs

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DrugNameSourceType
DB02930 Adenosine 5'-[gamma-thio]triphosphateDrugbanksmall molecule