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BCKDHB

GENERAL INFORMATION

Gene name

 BCKDHB

Gene description

 Branched chain keto acid dehydrogenase E1, beta polypeptide

Protein class

 Disease related genes
Enzymes
Potential drug targets
Predicted secreted proteins

Predicted localization

 Secreted

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Expressed in all
HPA (cell line):Expressed in all
HPA (normal tissue):Expressed in all

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Ubiquitous cytoplasmic expression.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA031580
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PROGNOSTIC SUMMARY
Prognostic marker in renal cancer (favourable).
Renal cancer p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA031580

GENE INFORMATION

Gene name

 BCKDHB

Synonyms

Description

 Branched chain keto acid dehydrogenase E1, beta polypeptide (HGNC Symbol)

Entrez gene summary

 Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein 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 transcript variants with different 3' non-coding regions, but encoding the same isoform. [provided by RefSeq, Jul 2008]

Chromosome

 6

Cytoband

 q14.1

Chromosome location (bp)

 80106647 - 80346270

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000083123 (version 83.38)

Entrez gene

 594

UniProt

 P21953 (UniProt - Evidence at protein level)

neXtProt

 NX_P21953

Antibodypedia

 BCKDHB antibodies

PROTEIN BROWSER
BCKDHB-002
BCKDHB-004
BCKDHB-005

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
BCKDHB-002
ENSP00000358775
ENST00000369760
P21953 [Direct mapping]
2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
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Enzymes
   ENZYME proteins
   Oxidoreductases
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003863 [3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity]
GO:0005515 [protein binding]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0005947 [mitochondrial alpha-ketoglutarate dehydrogenase complex]
GO:0009083 [branched-chain amino acid catabolic process]
GO:0016831 [carboxy-lyase activity]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0055114 [oxidation-reduction process]
Show all
 218 aa
23.5 kDa 		Yes 0
BCKDHB-004
ENSP00000318351
ENST00000320393
P21953 [Direct mapping]
2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
   SPOCTOPUS predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0003826 [alpha-ketoacid dehydrogenase activity]
GO:0003863 [3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity]
GO:0005515 [protein binding]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0005947 [mitochondrial alpha-ketoglutarate dehydrogenase complex]
GO:0008152 [metabolic process]
GO:0009083 [branched-chain amino acid catabolic process]
GO:0016831 [carboxy-lyase activity]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0055114 [oxidation-reduction process]
Show all
 392 aa
43.1 kDa 		Yes 0
BCKDHB-005
ENSP00000348880
ENST00000356489
P21953 [Direct mapping]
2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
   SPOCTOPUS predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0003863 [3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity]
GO:0005515 [protein binding]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0005947 [mitochondrial alpha-ketoglutarate dehydrogenase complex]
GO:0008152 [metabolic process]
GO:0009083 [branched-chain amino acid catabolic process]
GO:0016831 [carboxy-lyase activity]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0055114 [oxidation-reduction process]
Show all
 392 aa
43.1 kDa 		Yes 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.