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BCKDK (branched chain ketoacid dehydrogenase kinase)

Identity

Other aliasBCKDKD
BDK
HGNC (Hugo) BCKDK
LocusID (NCBI) 10295
Atlas_Id 43162
Location 16p11.2  [Link to chromosome band 16p11]
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
Cards
Entrez_Gene (NCBI)BCKDK  10295  branched chain ketoacid dehydrogenase kinase
AliasesBCKDKD; BDK
GeneCards (Weizmann)BCKDK
Ensembl hg19 (Hinxton)ENSG00000103507 [Gene_View]  chr16:31119615-31124112 [Contig_View]  BCKDK [Vega]
Ensembl hg38 (Hinxton)ENSG00000103507 [Gene_View]  chr16:31119615-31124112 [Contig_View]  BCKDK [Vega]
ICGC DataPortalENSG00000103507
TCGA cBioPortalBCKDK
AceView (NCBI)BCKDK
Genatlas (Paris)BCKDK
WikiGenes10295
SOURCE (Princeton)BCKDK
Genetics Home Reference (NIH)BCKDK
Genomic and cartography
GoldenPath hg19 (UCSC)BCKDK  -     chr16:31119615-31124112 +  16p11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)BCKDK  -     16p11.2   [Description]    (hg38-Dec_2013)
EnsemblBCKDK - 16p11.2 [CytoView hg19]  BCKDK - 16p11.2 [CytoView hg38]
Mapping of homologs : NCBIBCKDK [Mapview hg19]  BCKDK [Mapview hg38]
OMIM614901   614923   
Gene and transcription
Genbank (Entrez)AF026548 AK130145 AK294691 BC007363 BC009872
RefSeq transcript (Entrez)NM_001122957 NM_001271926 NM_005881
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_033011 NT_187260 NW_004929400
Consensus coding sequences : CCDS (NCBI)BCKDK
Cluster EST : UnigeneHs.513520 [ NCBI ]
CGAP (NCI)Hs.513520
Alternative Splicing GalleryENSG00000103507
Gene ExpressionBCKDK [ NCBI-GEO ]   BCKDK [ EBI - ARRAY_EXPRESS ]   BCKDK [ SEEK ]   BCKDK [ MEM ]
Gene Expression Viewer (FireBrowse)BCKDK [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10295
GTEX Portal (Tissue expression)BCKDK
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14874   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14874  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14874
Splice isoforms : SwissVarO14874
Catalytic activity : Enzyme2.7.11.4 [ Enzyme-Expasy ]   2.7.11.42.7.11.4 [ IntEnz-EBI ]   2.7.11.4 [ BRENDA ]   2.7.11.4 [ KEGG ]   
PhosPhoSitePlusO14874
Domaine pattern : Prosite (Expaxy)HIS_KIN (PS50109)   
Domains : Interpro (EBI)BCDHK/PDK_N    HATPase_C    His_kinase_dom    Sig_transdc_His_kin-like_C   
Domain families : Pfam (Sanger)BCDHK_Adom3 (PF10436)    HATPase_c (PF02518)   
Domain families : Pfam (NCBI)pfam10436    pfam02518   
Domain families : Smart (EMBL)HATPase_c (SM00387)  
Conserved Domain (NCBI)BCKDK
DMDM Disease mutations10295
Blocks (Seattle)BCKDK
SuperfamilyO14874
Human Protein AtlasENSG00000103507
Peptide AtlasO14874
HPRD12523
IPIIPI00298612   IPI00910522   IPI00643414   IPI00062344   
Protein Interaction databases
DIP (DOE-UCLA)O14874
IntAct (EBI)O14874
FunCoupENSG00000103507
BioGRIDBCKDK
STRING (EMBL)BCKDK
ZODIACBCKDK
Ontologies - Pathways
QuickGOO14874
Ontology : AmiGOprotein serine/threonine kinase activity  protein binding  ATP binding  mitochondrion  mitochondrion  mitochondrial matrix  mitochondrial alpha-ketoglutarate dehydrogenase complex  mitochondrial alpha-ketoglutarate dehydrogenase complex  protein phosphorylation  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  mitochondrion  mitochondrial matrix  mitochondrial alpha-ketoglutarate dehydrogenase complex  mitochondrial alpha-ketoglutarate dehydrogenase complex  protein phosphorylation  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  
NDEx NetworkBCKDK
Atlas of Cancer Signalling NetworkBCKDK
Wikipedia pathwaysBCKDK
Orthology - Evolution
OrthoDB10295
GeneTree (enSembl)ENSG00000103507
Phylogenetic Trees/Animal Genes : TreeFamBCKDK
HOVERGENO14874
HOGENOMO14874
Homologs : HomoloGeneBCKDK
Homology/Alignments : Family Browser (UCSC)BCKDK
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBCKDK [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BCKDK
dbVarBCKDK
ClinVarBCKDK
1000_GenomesBCKDK 
Exome Variant ServerBCKDK
ExAC (Exome Aggregation Consortium)BCKDK (select the gene name)
Genetic variants : HAPMAP10295
Genomic Variants (DGV)BCKDK [DGVbeta]
DECIPHER (Syndromes)16:31119615-31124112  ENSG00000103507
CONAN: Copy Number AnalysisBCKDK 
Mutations
ICGC Data PortalBCKDK 
TCGA Data PortalBCKDK 
Broad Tumor PortalBCKDK
OASIS PortalBCKDK [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBCKDK  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBCKDK
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch BCKDK
DgiDB (Drug Gene Interaction Database)BCKDK
DoCM (Curated mutations)BCKDK (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BCKDK (select a term)
intoGenBCKDK
Cancer3DBCKDK(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614901    614923   
Orphanet21310   
MedgenBCKDK
Genetic Testing Registry BCKDK
NextProtO14874 [Medical]
TSGene10295
GENETestsBCKDK
Huge Navigator BCKDK [HugePedia]
snp3D : Map Gene to Disease10295
BioCentury BCIQBCKDK
ClinGenBCKDK
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10295
Chemical/Pharm GKB GenePA134899581
Clinical trialBCKDK
Miscellaneous
canSAR (ICR)BCKDK (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBCKDK
EVEXBCKDK
GoPubMedBCKDK
iHOPBCKDK
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 12:57:25 CET 2017

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