Literature summary for 2.7.11.4 extracted from

Novarino, G.; El-Fishawy, P.; Kayserili, H.; Meguid, N.; Scott, E.; Schroth, J.; Silhavy, J.; Kara, M.; Khalil, R.; Ben-Omran, T.; Ercan-Sencicek, A.; Hashish, A.; Sanders, S.; Gupta, A.; Hashem, H.; Matern, D.; Gabriel, S.; Sweetman, L.; Rahimi, Y.; Harr
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy (2012), Science, 338, 394-397.

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Protein Variants

Protein Variants	Comment	Organism
G671C	naturally occuring mutation, on chromosome 16, leads to the substitution of a highly conserved arginine with a proline at position 224 in BCKDK	Homo sapiens
additional information	identification of mutations from autism patients , e.g. in exon 4 (C466T) resulting in a premature stop codon at amino acid position 156, prior to the kinase domain, or a single base deletion (c.G222del) in exon 2 leading to frame-shift terminating the protein at position 74 of 412 amino acids, whole-exome sequencing from two consanguineous families	Homo sapiens
R224P	naturally occuring mutation, leading to disruption of the beta sheet in a flexible linker domain, structure modeling	Homo sapiens

Metals/Ions

Metals/Ions	Comment	Organism	Structure
Mg2+	required	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
ATP + [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)]	Homo sapiens	phosphorylation-mediated inactivation of the E1alpha subunit of branched-chain ketoacid dehydrogenase, BCKDH	ADP + [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] phosphate	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
ATP + [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)]	phosphorylation-mediated inactivation of the E1alpha subunit of branched-chain ketoacid dehydrogenase, BCKDH	Homo sapiens	ADP + [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] phosphate	-	?
ATP + [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)]	phosphorylation of residue Ser293 of the E1alpha subunit of branched-chain ketoacid dehydrogenase, BCKDH	Homo sapiens	ADP + [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] phosphate	-	?

Synonyms

Synonyms	Comment	Organism
BCKD-kinase	-	Homo sapiens
branched chain ketoacid dehydrogenase kinase	-	Homo sapiens

Cofactor

Cofactor	Comment	Organism	Structure
ATP	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	patients with homozygous BCKDK mutations display reductions in BCKDK messenger RNA and protein, E1alpha phosphorylation, and plasma branched-chain amino acids. Inactivating mutations in the gene BCKDK in consanguineous families are associated with autism, epilepsy, and intellectual disability, geno- and phenotyping, overview	Homo sapiens

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Release 2023.1 (January 2023)