Bckdk
Gene Detail

Symbol Name ID

Bckdk branched chain ketoacid dehydrogenase kinase MGI:1276121

Synonyms

BCKD-kinase

Feature Type

protein coding gene

Genetic Map

Chromosome 7

69.82 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr7:127904082-127909664 bp, + strand From VEGA annotation of GRCm38   5583 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:37642  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

Protein SuperFamily: branched-chain alpha-keto acid dehydrogenase kinase
Gene Tree: Bckdk

Human homologs

Human Homolog		BCKDK, branched chain ketoacid dehydrogenase kinase
NCBI Gene ID		10295
neXtProt AC		NX_O14874
Human Synonyms		BCKDKD, BDK
Human Chr (Location)		16p11.2; chr16:31119662-31124112 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human BCKDK

Alleles and phenotypes

All alleles(17) : Targeted(2) Gene trapped(15)
 

Homozygous mutation of this gene results in growth retardation and small size, reduced tissue levels of branched-chain amino acids, reduced fertility, and the development of epileptic seizures.

 

Gene Ontology (GO) classifications

All GO classifications: (16 annotations)

Process	branched-chain amino acid catabolic process, metabolic process, ...
Component	mitochondrial alpha-ketoglutarate dehydrogenase complex, mitochondrion
Function	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity, ATP binding, ...

External Resources: FuncBase

Expression

Literature Summary: (1 records)
Data Summary: Results (50)    Tissues (21)   
Theiler Stages: 9, 11, 13, 15, 17, 19, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Western blot	29
RT-PCR	21

cDNA source data(123)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(125) cDNA(123) Primer pair(2)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000025391 (Evidence)
Ensembl Gene Model	ENSMUSG00000030802 (Evidence)
Entrez Gene	12041 (Evidence)
UniGene	425495
DFCI	TC1572929, TC1767312
DoTS	DT.110981450, DT.110981826, DT.535110, DT.99846818, DT.99856878
NIA Mouse Gene Index	U042869
EC	2.7.11.4
Consensus CDS Project	CCDS21884.1
International Mouse Knockout Project Status	Bckdk

Sequences

Length	Strain/Species
genomic	OTTMUSG00000025391	VEGA Gene Model | MGI Sequence Detail	5583	C57BL/6J
transcript	OTTMUST00000062511	VEGA | MGI Sequence Detail	2848	Not Applicable
polypeptide	OTTMUSP00000030822	VEGA | MGI Sequence Detail	412	Not Applicable

All sequences(53) RefSeq(2) UniProt(6)

Polymorphisms

SNPs(51 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR003594	ATPase-like, ATP-binding domain
InterPro	IPR018955	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal
InterPro	IPR005467	Signal transduction histidine kinase, core
InterPro	IPR004358	Signal transduction histidine kinase-related protein, C-terminal
Protein Ontology	PR:000004688	[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial

References

(Earliest) J:48080 Doering CB, et al., Murine branched chain alpha-ketoacid dehydrogenase kinase; cDNA cloning, tissue distribution, and temporal expression during embryonic development. Gene. 1998 Jun 8;212(2):213-9
(Latest) J:187971 Novarino G, et al., Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy. Science. 2012 Sep 6;
All references(39)

Other accession IDs

MGI:2141925