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 | Comment | Organism | Structure |
---|---|---|---|
Mg2+ | required | Homo sapiens |
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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
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 | Comment | Organism |
---|---|---|
BCKD-kinase | - |
Homo sapiens |
branched chain ketoacid dehydrogenase kinase | - |
Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
ATP | - |
Homo sapiens |
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 |