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FLASH GENE

Symbol

BCKDK

contributors: mct - updated : 07-02-2018

HGNC name	branched chain ketoacid dehydrogenase kinase
HGNC id	16902

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001122957 11 - 2237 NP_001116429 - 365 - 2004 15302860 NM_001271926 10 - 2147 NP_001258855 - 335 - 2004 15302860 NM_005881 12 - 2144 NP_005872 - 412 - 2004 15302860

EXPRESSION

Type

widely

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine small intestine     predominantly   liver       moderately Reproductive female system uterus cervix   moderately   female system ovary     moderately   female system placenta     moderately   male system testis     highly Skin/Tegument skin       moderately Urinary kidney       moderately Visual eye       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       Nervous peripherous

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

an histidine kinase domain

conjugated

PhosphoP

mono polymer

monomer , complex

HOMOLOGY

interspecies	ortholog to murine Bckdk
	ortholog to rattus Bckdk

Homologene

FAMILY

PDK/BCKDK protein kinase family

CATEGORY

enzyme , regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,matrix

basic FUNCTION	catalyzing the phosphorylation and inactivation of the branched-chain alpha-ketoacid dehydrogenase complex (the key regulatory enzyme of the valine, leucine and isoleucine catabolic pathways)
	regulating the activity state of the BCKD complex
	catalyzes the irreversible, rate-limiting step in the catabolism of branched-chain amino acids (BCAAs)
	integral part of an enzyme complex located in the mitochondrial matrix of many tissues which regulates the levels of the branched-chain amino acids (BCAAs), leucine, isoleucine and valine

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

alpha-ketoglutarate dehydrogenase complex

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP

protein

role of BCKDK in negative regulation of the BCKDHA complex

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

BCKDKD

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Bckdk knockout mice show abnormal brain amino acid profiles and neurobehavioral deficits that respond to dietary supplementation
	mice deficient for Bckdk display increased basal activity of the BCKDH complex as well as reduced BCAAs in various tissues, and neurological deficits were completely abolished within a week of the Bckdk-/- mice starting the BCAA-enriched diet, which suggests that they have an inducible yet reversible phenotype