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BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta)

Identity

Alias_namesbranched chain keto acid dehydrogenase E1, beta polypeptide
Other aliasBCKDE1B
BCKDH E1-beta
E1B
HGNC (Hugo) BCKDHB
LocusID (NCBI) 594
Atlas_Id 60725
Location 6q14.1  [Link to chromosome band 6q14]
Location_base_pair Starts at 80106610 and ends at 80346270 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DBI (2q14.2) / BCKDHB (6q14.1)SEC31A (4q21.22) / BCKDHB (6q14.1)

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)BCKDHB   987
Cards
Entrez_Gene (NCBI)BCKDHB  594  branched chain keto acid dehydrogenase E1 subunit beta
AliasesBCKDE1B; BCKDH; E1B
GeneCards (Weizmann)BCKDHB
Ensembl hg19 (Hinxton)ENSG00000083123 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000083123 [Gene_View]  ENSG00000083123 [Sequence]  chr6:80106610-80346270 [Contig_View]  BCKDHB [Vega]
ICGC DataPortalENSG00000083123
TCGA cBioPortalBCKDHB
AceView (NCBI)BCKDHB
Genatlas (Paris)BCKDHB
WikiGenes594
SOURCE (Princeton)BCKDHB
Genetics Home Reference (NIH)BCKDHB
Genomic and cartography
GoldenPath hg38 (UCSC)BCKDHB  -     chr6:80106610-80346270 +  6q14.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BCKDHB  -     6q14.1   [Description]    (hg19-Feb_2009)
EnsemblBCKDHB - 6q14.1 [CytoView hg19]  BCKDHB - 6q14.1 [CytoView hg38]
Mapping of homologs : NCBIBCKDHB [Mapview hg19]  BCKDHB [Mapview hg38]
OMIM248600   248611   
Gene and transcription
Genbank (Entrez)AK289977 AK304353 AK310838 AK316545 BC034481
RefSeq transcript (Entrez)NM_000056 NM_001318975 NM_183050
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BCKDHB
Cluster EST : UnigeneHs.654441 [ NCBI ]
CGAP (NCI)Hs.654441
Alternative Splicing GalleryENSG00000083123
Gene ExpressionBCKDHB [ NCBI-GEO ]   BCKDHB [ EBI - ARRAY_EXPRESS ]   BCKDHB [ SEEK ]   BCKDHB [ MEM ]
Gene Expression Viewer (FireBrowse)BCKDHB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)594
GTEX Portal (Tissue expression)BCKDHB
Human Protein AtlasENSG00000083123-BCKDHB [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP21953   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP21953  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP21953
Splice isoforms : SwissVarP21953
Catalytic activity : Enzyme1.2.4.4 [ Enzyme-Expasy ]   1.2.4.41.2.4.4 [ IntEnz-EBI ]   1.2.4.4 [ BRENDA ]   1.2.4.4 [ KEGG ]   
PhosPhoSitePlusP21953
Domains : Interpro (EBI)THDP-binding    Transketo_C/PFOR_II    Transketolase-like_Pyr-bd    Transketolase_C   
Domain families : Pfam (Sanger)Transket_pyr (PF02779)    Transketolase_C (PF02780)   
Domain families : Pfam (NCBI)pfam02779    pfam02780   
Domain families : Smart (EMBL)Transket_pyr (SM00861)  
Conserved Domain (NCBI)BCKDHB
DMDM Disease mutations594
Blocks (Seattle)BCKDHB
PDB (SRS)1DTW    1OLS    1OLU    1OLX    1U5B    1V11    1V16    1V1M    1V1R    1WCI    1X7W    1X7X    1X7Y    1X7Z    1X80    2BEU    2BEV    2BEW    2BFB    2BFC    2BFD    2BFE    2BFF    2J9F   
PDB (PDBSum)1DTW    1OLS    1OLU    1OLX    1U5B    1V11    1V16    1V1M    1V1R    1WCI    1X7W    1X7X    1X7Y    1X7Z    1X80    2BEU    2BEV    2BEW    2BFB    2BFC    2BFD    2BFE    2BFF    2J9F   
PDB (IMB)1DTW    1OLS    1OLU    1OLX    1U5B    1V11    1V16    1V1M    1V1R    1WCI    1X7W    1X7X    1X7Y    1X7Z    1X80    2BEU    2BEV    2BEW    2BFB    2BFC    2BFD    2BFE    2BFF    2J9F   
PDB (RSDB)1DTW    1OLS    1OLU    1OLX    1U5B    1V11    1V16    1V1M    1V1R    1WCI    1X7W    1X7X    1X7Y    1X7Z    1X80    2BEU    2BEV    2BEW    2BFB    2BFC    2BFD    2BFE    2BFF    2J9F   
Structural Biology KnowledgeBase1DTW    1OLS    1OLU    1OLX    1U5B    1V11    1V16    1V1M    1V1R    1WCI    1X7W    1X7X    1X7Y    1X7Z    1X80    2BEU    2BEV    2BEW    2BFB    2BFC    2BFD    2BFE    2BFF    2J9F   
SCOP (Structural Classification of Proteins)1DTW    1OLS    1OLU    1OLX    1U5B    1V11    1V16    1V1M    1V1R    1WCI    1X7W    1X7X    1X7Y    1X7Z    1X80    2BEU    2BEV    2BEW    2BFB    2BFC    2BFD    2BFE    2BFF    2J9F   
CATH (Classification of proteins structures)1DTW    1OLS    1OLU    1OLX    1U5B    1V11    1V16    1V1M    1V1R    1WCI    1X7W    1X7X    1X7Y    1X7Z    1X80    2BEU    2BEV    2BEW    2BFB    2BFC    2BFD    2BFE    2BFF    2J9F   
SuperfamilyP21953
Human Protein Atlas [tissue]ENSG00000083123-BCKDHB [tissue]
Peptide AtlasP21953
HPRD02011
IPIIPI00011276   IPI01011008   IPI00642832   
Protein Interaction databases
DIP (DOE-UCLA)P21953
IntAct (EBI)P21953
FunCoupENSG00000083123
BioGRIDBCKDHB
STRING (EMBL)BCKDHB
ZODIACBCKDHB
Ontologies - Pathways
QuickGOP21953
Ontology : AmiGO###############################################################################################################################################################################################################################################################                      
Ontology : EGO-EBI###############################################################################################################################################################################################################################################################                      
Pathways : KEGGValine, leucine and isoleucine degradation   
NDEx NetworkBCKDHB
Atlas of Cancer Signalling NetworkBCKDHB
Wikipedia pathwaysBCKDHB
Orthology - Evolution
OrthoDB594
GeneTree (enSembl)ENSG00000083123
Phylogenetic Trees/Animal Genes : TreeFamBCKDHB
HOVERGENP21953
HOGENOMP21953
Homologs : HomoloGeneBCKDHB
Homology/Alignments : Family Browser (UCSC)BCKDHB
Gene fusions - Rearrangements
Fusion : QuiverBCKDHB
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBCKDHB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BCKDHB
dbVarBCKDHB
ClinVarBCKDHB
1000_GenomesBCKDHB 
Exome Variant ServerBCKDHB
ExAC (Exome Aggregation Consortium)ENSG00000083123
GNOMAD BrowserENSG00000083123
Varsome BrowserBCKDHB
Genetic variants : HAPMAP594
Genomic Variants (DGV)BCKDHB [DGVbeta]
DECIPHERBCKDHB [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBCKDHB 
Mutations
ICGC Data PortalBCKDHB 
TCGA Data PortalBCKDHB 
Broad Tumor PortalBCKDHB
OASIS PortalBCKDHB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBCKDHB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBCKDHB
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 BCKDHB
DgiDB (Drug Gene Interaction Database)BCKDHB
DoCM (Curated mutations)BCKDHB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BCKDHB (select a term)
intoGenBCKDHB
Cancer3DBCKDHB(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM248600    248611   
Orphanet20169    20168    20171    20170   
DisGeNETBCKDHB
MedgenBCKDHB
Genetic Testing Registry BCKDHB
NextProtP21953 [Medical]
TSGene594
GENETestsBCKDHB
Target ValidationBCKDHB
Huge Navigator BCKDHB [HugePedia]
snp3D : Map Gene to Disease594
BioCentury BCIQBCKDHB
ClinGenBCKDHB
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD594
Chemical/Pharm GKB GenePA25298
Clinical trialBCKDHB
Miscellaneous
canSAR (ICR)BCKDHB (select the gene name)
Probes
Litterature
PubMed1 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBCKDHB
EVEXBCKDHB
GoPubMedBCKDHB
iHOPBCKDHB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jul 30 13:36:44 CEST 2018

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