branched chain keto acid dehydrogenase kinase | Pyruvate dehydrogenase kinase (PDHK) family | IUPHAR/BPS Guide to PHARMACOLOGY

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branched chain keto acid dehydrogenase kinase

Target not currently curated in GtoImmuPdb

Target id: 1939

Nomenclature: branched chain keto acid dehydrogenase kinase

Abbreviated Name: BCKDK

Family: Pyruvate dehydrogenase kinase (PDHK) family

Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human - 365 16p11.2 BCKDK branched chain keto acid dehydrogenase kinase
Mouse - 412 7 F3 Bckdk branched chain ketoacid dehydrogenase kinase
Rat - 412 1 q36 Bckdk branched chain ketoacid dehydrogenase kinase
Previous and Unofficial Names
BCKDHKIN | BCKD-kinase | branched chain ketoacid dehydrogenase kinase
Database Links
BRENDA
CATH/Gene3D
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Enzyme
KEGG Gene
OMIM
Orphanet
Pharos
RefSeq Nucleotide
RefSeq Protein
UniProtKB
Wikipedia
Selected 3D Structures
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
EC Number: 2.7.11.4
Clinically-Relevant Mutations and Pathophysiology
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. U.S.A., 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 26/09/2020. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1939.