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Tbio
BCKDHB
2-oxoisovalerate dehydrogenase subunit beta, mitochondrial

Protein Summary
Description
The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation and feeding problems. Alternative splicing at this locus results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000320393
  • ENSP00000318351
  • ENSG00000083123
  • ENST00000356489
  • ENSP00000348880
  • ENST00000369760
  • ENSP00000358775

Symbol
  • E1B
  • BCKDE1B
  • BCKDH E1-beta
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
kinase perturbation
1
transcription factor perturbation
0.97
disease perturbation
0.93
histone modification site profile
0.75
cellular component
0.71


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 52.86   (req: < 5)
Gene RIFs: 20   (req: <= 3)
Antibodies: 94   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 52.86   (req: >= 5)
Gene RIFs: 20   (req: > 3)
Antibodies: 94   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 4
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Expression Data (0 Tissues)
No expression data found
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (104)
PPM1K
Tbio
Family:  Enzyme
Novelty:  0.0337866
p_int:  0.999997965
p_ni:  0.000001651
p_wrong:  3.84e-7
Score:  0.995
Data Source:  BioPlex,Reactome,STRINGDB
DBT
Tbio
Family:  Enzyme
Novelty:  0.0070589
p_int:  0.999996237
p_ni:  0.000003761
p_wrong:  1e-9
Score:  0.998
Data Source:  BioPlex,Reactome,STRINGDB
POLB
Tchem
Family:  Enzyme
Novelty:  0.00145102
p_int:  0.999443319
p_ni:  0.00055668
p_wrong:  1e-9
Score:  0.711
Data Source:  BioPlex,STRINGDB
ZNF785
Tdark
Family:  TF
Novelty:  0.42629766
p_int:  0.998425026
p_ni:  0.001572899
p_wrong:  0.000002075
Data Source:  BioPlex
S100A4
Tchem
Novelty:  0.00136919
p_int:  0.99792016
p_ni:  0.00207984
Data Source:  BioPlex
LRP1
Tbio
Novelty:  0.00200788
p_int:  0.997880965
p_ni:  0.00211893
p_wrong:  1.06e-7
Data Source:  BioPlex
TCF25
Tbio
Novelty:  0.08961823
p_int:  0.996191002
p_ni:  0.003586261
p_wrong:  0.000222737
Score:  0.189
Data Source:  BioPlex,STRINGDB
BCKDHA
Tbio
Family:  Enzyme
Novelty:  0.01684893
p_int:  0.980575039
p_ni:  0.019424961
Score:  0.999
Data Source:  BioPlex,Reactome,STRINGDB
CD1A
Tbio
Novelty:  0.00090676
p_int:  0.925982151
p_ni:  0.074017695
p_wrong:  1.54e-7
Data Source:  BioPlex
ORAI1
Tchem
Family:  IC
Novelty:  0.00179685
p_int:  0.831660885
p_ni:  0.16833871
p_wrong:  4.05e-7
Data Source:  BioPlex
Pathways (8)
Branched-chain amino acid catabolism (R-HSA-70895)

Click on a row in the table to change the structure displayed.

Find Similar Targets
Items per page:
1 – 4 of 4
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Branched-chain amino acid catabolism
Reactome
Glyoxylate metabolism and glycine degradation
Reactome
Metabolism
Reactome
Metabolism of amino acids and derivatives
Name
Explore in Pharos
Explore in Source
Branched-chain amino acid catabolism
Glyoxylate metabolism and glycine degradation
Metabolism
Metabolism of amino acids and derivatives
Viral Interactions (0)
No viral interactions found
Disease Associations (null)
No disease associations found
GWAS Traits (13)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
BMI-adjusted waist-hip ratio
4
8
9
93.2
waist-hip ratio
3
8
9
89.5
body height
2
2
2
88.8
BMI-adjusted waist circumference
3
15
16
76.1
spine bone size
1
1
1
67.1
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
BMI-adjusted waist-hip ratio
9
93.2
waist-hip ratio
9
89.5
body height
2
88.8
BMI-adjusted waist circumference
16
76.1
spine bone size
1
67.1
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
branched chain keto acid dehydrogenase E1 subunit beta
VGNC:12760
462845
Macaque
branched chain keto acid dehydrogenase E1 subunit beta
718472
Mouse
MGI:88137
12040
Rat
RGD:2197
29711
Dog
branched chain keto acid dehydrogenase E1 subunit beta
VGNC:38406
474978
Species
Name
OMA
EggNOG
Inparanoid
Chimp
branched chain keto acid dehydrogenase E1 subunit beta
Macaque
branched chain keto acid dehydrogenase E1 subunit beta
Mouse
Rat
Dog
branched chain keto acid dehydrogenase E1 subunit beta
Publication Statistics
PubMed Score 52.86
PubMed score by year
PubTator Score 154.32
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title