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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 western clawed frog; 1 zebrafish

HCOP human homology predictions: BCKDK
Protein SuperFamily: branched-chain alpha-keto acid dehydrogenase kinase
Gene Tree: Bckdk

Human
homologs
BCKDK, branched chain ketoacid dehydrogenase kinase
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 10295
neXtProt AC: NX_O14874

Human Synonyms: BCKDKD, BDK

Human Chr (Location): 16p11.2; chr16:31108294-31112791 (+)  GRCh38.p2

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 165 markers (Mir15a, Mir15b, Mir16-1, ...)
Expression
Literature Summary: (1 records)
Data Summary: Results (50)    Tissues (21)    Tissue x Stage Matrix (view)
Assay TypeResults
Western blot 29
RT-PCR 21
cDNA source data(122)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase bckdk ; ZFIN bckdk    NEW 
Molecular
reagents
All nucleic(124) cDNA(122) 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.99856878, DT.99846818, DT.535110, DT.110981826
NIA Mouse Gene Index U042869
EC 2.7.11.4
Consensus CDS Project CCDS21884.1
International Mouse Phenotyping Consortium Status Bckdk
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(54) 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:215082 Hatazawa Y, et al., PGC-1alpha-mediated branched-chain amino acid metabolism in the skeletal muscle. PLoS One. 2014;9(3):e91006
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
07/21/2015
MGI 5.22
The Jackson Laboratory