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branched chain keto acid dehydrogenase kinase

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Target id: 1939

Nomenclature: branched chain keto acid dehydrogenase kinase

Abbreviated Name: BCKDK

Family: Pyruvate dehydrogenase kinase (PDHK) family

Contents:

Gene and Protein Information Click here for help
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human - 412 16p11.2 BCKDK branched chain keto acid dehydrogenase kinase
Mouse - 412 7 F3 Bckdk branched chain ketoacid dehydrogenase kinase
Rat - 412 1q37 Bckdk branched chain ketoacid dehydrogenase kinase
Previous and Unofficial Names Click here for help
BCKDHKIN | BCKD-kinase | branched chain ketoacid dehydrogenase kinase
Database Links Click here for help
Alphafold O14874 (Hs), O55028 (Mm), Q00972 (Rn)
BRENDA 2.7.11.4
CATH/Gene3D 1.20.140.20, 3.30.565.10
ChEMBL Target CHEMBL4879410 (Hs)
Ensembl Gene ENSG00000103507 (Hs), ENSMUSG00000030802 (Mm), ENSRNOG00000019485 (Rn)
Entrez Gene 10295 (Hs), 12041 (Mm), 29603 (Rn)
Human Protein Atlas ENSG00000103507 (Hs)
KEGG Enzyme 2.7.11.4
KEGG Gene hsa:10295 (Hs), mmu:12041 (Mm), rno:29603 (Rn)
OMIM 614901 (Hs)
Orphanet ORPHA312680 (Hs)
Pharos O14874 (Hs)
RefSeq Nucleotide NM_001122957 (Hs), NM_009739 (Mm), NM_019244 (Rn)
RefSeq Protein NP_001116429 (Hs), NP_033869 (Mm), NP_062117 (Rn)
UniProtKB O14874 (Hs), O55028 (Mm), Q00972 (Rn)
Wikipedia BCKDK (Hs)
Selected 3D Structures Click here for help
Image of receptor 3D structure from RCSB PDB
Description:  Branched-chain alpha-ketoacid dehydrogenase kinase (BCK) complxed with ATP-gamma-S
PDB Id:  1GJV
Resolution:  2.7Å
Species:  Rat
References:  1
Image of receptor 3D structure from RCSB PDB
Description:  Branched chain alpha-ketoacid dehydrogenase kinase (BCK)
PDB Id:  1GKX
Resolution:  2.3Å
Species:  Rat
References:  1
Enzyme Reaction Click here for help
EC Number: 2.7.11.4
Clinically-Relevant Mutations and Pathophysiology Click here for help
Disease:  Branched-chain ketoacid dehydrogenase kinase deficiency
Synonyms: Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency [Orphanet: ORPHA308410]
OMIM: 614923
Orphanet: ORPHA308410

References

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1. Machius M, Chuang JL, Wynn RM, Tomchick DR, Chuang DT. (2001) Structure of rat BCKD kinase: nucleotide-induced domain communication in a mitochondrial protein kinase. Proc Natl Acad Sci USA, 98 (20): 11218-23. [PMID:11562470]

How to cite this page

Pyruvate dehydrogenase kinase (PDHK) family: branched chain keto acid dehydrogenase kinase. Last modified on 30/04/2019. Accessed on 04/11/2025. IUPHAR/BPS Guide to PHARMACOLOGY, https://www.guidetomalariapharmacology.org/GRAC/ObjectDisplayForward?objectId=1939.