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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; chr16:31108294-31112791 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human BCKDK
Mutations,
alleles, and
phenotypes
All mutations/alleles(17) : Gene trapped(15) Targeted(2)
Incidental mutations (data from APF )
 
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.
 
Interactions
Bckdk interacts with 166 markers (Mir15a, Mir15b, Mir16-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process branched-chain amino acid catabolic process, phosphorylation, ...
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 TypeResults
Western blot 29
RT-PCR 21
cDNA source data(122)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(124) cDNA(122) Primer pair(2)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000025391 (Evidence)
Ensembl Gene ModelENSMUSG00000030802 (Evidence)
Entrez Gene12041 (Evidence)
UniGene425495
DFCITC1572929, TC1767312
DoTSDT.110981450, DT.110981826, DT.535110, DT.99846818, DT.99856878
NIA Mouse Gene IndexU042869
EC2.7.11.4
Consensus CDS ProjectCCDS21884.1
International Mouse Knockout Project StatusBckdk
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000025391 VEGA Gene Model | MGI Sequence Detail 5583 C57BL/6J ±  kb
transcript OTTMUST00000062511 VEGA | MGI Sequence Detail 2848 Not Applicable 
polypeptide OTTMUSP00000030822 VEGA | MGI Sequence Detail 412 Not Applicable 

For the selected sequences
All sequences(53) RefSeq(2) UniProt(6)
Polymorphisms SNPs within 2kb(56 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR018955 Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal
InterPro IPR003594 Histidine kinase-like ATPase, ATP-binding domain
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:204908 She P, et al., General control nonderepressible 2 (GCN2) kinase protects oligodendrocytes and white matter during branched-chain amino acid deficiency in mice. J Biol Chem. 2013 Oct 25;288(43):31250-60
All references(42)
Other
accession IDs
MGI:2141925

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/23/2014
MGI 5.19
The Jackson Laboratory