Atlas of Genetics and Cytogenetics in Oncology and Haematology

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BCKDK (branched chain ketoacid dehydrogenase kinase)

Identity

Other namesBCKDKD
BDK
HGNC (Hugo) BCKDK
LocusID (NCBI) 10295
Location 16p11.2
Location_base_pair Starts at 31119615 and ends at 31124112 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)BCKDK   16902
Entrez_Gene (NCBI)BCKDK  10295  branched chain ketoacid dehydrogenase kinase
Cards
GeneCards (Weizmann)BCKDK
Ensembl (Hinxton)ENSG00000103507 [Gene_View]  chr16:31119615-31124112 [Contig_View]  BCKDK [Vega]
AceView (NCBI)BCKDK
Genatlas (Paris)BCKDK
SOURCE (Stanford)NM_001122957 NM_001271926 NM_005881
Genomic and cartography
GoldenPath (UCSC)BCKDK  -  16p11.2   chr16:31119615-31124112 +  16p11.2   [Description]    (hg19-Feb_2009)
EnsemblBCKDK - 16p11.2 [CytoView]
Mapping of homologs : NCBIBCKDK [Mapview]
OMIM614901   614923   
Gene and transcription
Genbank (Entrez)AF026548 AK130145 AK294691 BC007363 BC009872
RefSeq transcript (SRS)NM_001122957 NM_001271926 NM_005881
RefSeq transcript (Entrez)NM_001122957 NM_001271926 NM_005881
RefSeq genomic (SRS)AC_000148 NC_000016 NC_018927 NG_033011 NT_010393 NW_001838236 NW_004078085
RefSeq genomic (Entrez)AC_000148 NC_000016 NC_018927 NG_033011 NT_010393 NW_001838236 NW_004078085
Consensus coding sequences : CCDS (NCBI)BCKDK
Cluster EST : UnigeneHs.513520 [ SRS ] Hs.513520 [ NCBI ]
CGAP (NCI)Hs.513520
Alternative Splicing : Fast-db (Paris)GSHG0011130
Alternative Splicing GalleryENSG00000103507
Gene ExpressionBCKDK [ NCBI-GEO ]   BCKDK [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14874 (SRS) O14874 (Uniprot)
NextProtO14874
With graphics : InterProO14874
Splice isoforms : SwissVarO14874(Swissvar)
Domaine pattern : Prosite (SRS)HIS_KIN (PS50109)   
Domaine pattern : Prosite (Expaxy)HIS_KIN (PS50109)   
Domains : Interpro (SRS)ATPase-like_ATP-bd    BCDHK/PDK_N    Sig_transdc_His_kin-like_C    Sig_transdc_His_kinase_core   
Domains : Interpro (EBI)ATPase-like_ATP-bd    BCDHK/PDK_N    Sig_transdc_His_kin-like_C    Sig_transdc_His_kinase_core   
Related proteins : CluSTrO14874
Domain families : Pfam (SRS)BCDHK_Adom3 (PF10436)    HATPase_c (PF02518)   
Domain families : Pfam (Sanger)BCDHK_Adom3 (PF10436)    HATPase_c (PF02518)   
Domain families : Pfam (NCBI)pfam10436    pfam02518   
Domain families : Smart (EMBL)HATPase_c (SM00387)  
DMDM10295
Blocks (Seattle)O14874
Human Protein AtlasENSG00000103507
HPRD12523
IPIIPI00298612   IPI00910522   IPI00643414   IPI00062344   
Protein Interaction databases
DIP (DOE-UCLA)O14874
IntAct (EBI)O14874
FunCoupENSG00000103507
REACTOMEBCKDK
Protein Interaction Database10295
BioGRIDBCKDK
InParanoidO14874
Interologous Interaction database O14874
IntegromeDBBCKDK
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)BCKDK
SNP (GeneSNP Utah)BCKDK
SNP : HGBaseBCKDK
Genetic variants : HAPMAPBCKDK
Somatic Mutations in Cancer : COSMICBCKDK 
CONAN: Copy Number AnalysisBCKDK 
Mutations and Diseases : HGMDBCKDK
OMIM614901    614923   
GENETests614901    614923   
Disease Genetic AssociationBCKDK
Huge Navigator BCKDK [HugePedia]  BCKDK [HugeCancerGEM]
Genomic VariantsBCKDK  BCKDK [DGVbeta]
snp3D : Map Gene to Disease10295
General knowledge
Homologs : HomoloGeneBCKDK
Homology/Alignments : Family Browser (UCSC)BCKDK
Phylogenetic Trees/Animal Genes : TreeFamBCKDK
Catalytic activity : Enzyme2.7.11.4 [ Enzyme-Expasy ]   2.7.11.4 [ Enzyme-SRS ]   2.7.11.4 [ IntEnz-EBI ]   2.7.11.4 [ BRENDA ]   2.7.11.4 [ KEGG ]   
Chemical/Protein Interactions : CTD10295
Chemical/Pharm GKB GenePA134899581
Clinical trialBCKDK
Cancer Resource (Charite)ENSG00000103507
Ontology : AmiGOprotein serine/threonine kinase activity  protein binding  ATP binding  mitochondrion  mitochondrial alpha-ketoglutarate dehydrogenase complex  mitochondrial alpha-ketoglutarate dehydrogenase complex  cellular amino acid catabolic process  branched-chain amino acid catabolic process  branched-chain amino acid catabolic process  kinase activity  phosphorylation  phosphorylation  [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity  
Ontology : EGO-EBIprotein serine/threonine kinase activity  protein binding  ATP binding  mitochondrion  mitochondrial alpha-ketoglutarate dehydrogenase complex  mitochondrial alpha-ketoglutarate dehydrogenase complex  cellular amino acid catabolic process  branched-chain amino acid catabolic process  branched-chain amino acid catabolic process  kinase activity  phosphorylation  phosphorylation  [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity  
Other databases
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
PubGeneBCKDK
iHOPBCKDK
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 1 12:49:15 CEST 2013
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