Skip Navigation
NCI banner National Cancer Institute U.S. National Institutes of Health National Cancer Institute
Genes
  • Gene Tools
Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. BCKDHB, branched chain keto acid dehydrogenase E1, beta polypeptide
Sequence ID:NM_000056
NM_183050
RefSeqGene ID:NG_009775
Entrez Gene ID:594
Ensembl ID:ENSG00000083123

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
MAPLE SYRUP URINE DISEASE, TYPE IABCKDHA
DBT
DLD

Cytogenetic Location (from UniGene)

Cytogenetic Location:6q14.1Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:6: 80816397 - 81053775

 Exon Info From UCSC:
NM_000056
NM_183050

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
4824846Full LengthBC034481branched chain keto acid dehydrogenase E1, beta polypeptide
5493159Full LengthBC040139branched chain keto acid dehydrogenase E1, beta polypeptide

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000047  NP_898871  

Protein Infomation

RefSeq
mRNAProteinSwissProtEnzymePfam
NM_000056 NP_000047 P21953 EC 1.2.4.4 Transket_pyr
Transketolase_C
NM_183050 NP_898871 P21953 EC 1.2.4.4 Transket_pyr
Transketolase_C

Related Sequences

 
mRNAGenPeptSwissProtEnzyme
M55575 AAA51812 P21953 EC 1.2.4.4
U51016 AAB09780 Q13566  
U50708 AAB16763 P21953 EC 1.2.4.4
BC034481 AAH34481 Q5T2J3  
BC040139 AAH40139 P21953 EC 1.2.4.4
BT020063 AAV38866 P21953 EC 1.2.4.4
AK289977 BAF82666 P21953 EC 1.2.4.4
AK304353 BAG65195 B4E2N3  
AK316545 BAH14916 B7ZB80  
X52446 CAA36685 P21953 EC 1.2.4.4

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens BCKDHB NP_000047 M.musculus Bckdhb 12040 Gene Info NP_954665 97
R.norvegicus Bckdhb 29711   NP_062140 92
A.thaliana BCDH BETA1 841998   NP_175947 68
A.gambiae AgaP_AGAP007531 1269704   XP_308350 67
A.thaliana DIN4 820547   NP_187954 67
C.elegans tag-173 172539   NP_492149 66
D.melanogaster CG17691 3355069   NP_001015354 66
P.falciparum PFE0225w 812914   XP_001351604 61
N.crassa NCU03913 3873737   XP_957552 54

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)