InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BCKDHB

Summary

InnateDB Protein

IDBP-93566.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

BCKDHB

Protein Name

branched chain keto acid dehydrogenase E1, beta polypeptide

Synonyms

dJ279A18.1; E1B;

Species

Homo sapiens

Ensembl Protein

ENSP00000348880

InnateDB Gene

IDBG-93562 (BCKDHB)

Protein Structure

UniProt Annotation

Function

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).

Subcellular Localization

Mitochondrion matrix.

Disease Associations

Maple syrup urine disease 1B (MSUD1B) [MIM:248600]: A metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated. {ECO:0000269PubMed:11509994, ECO:0000269PubMed:22326532, ECO:0000269PubMed:8161368}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	2 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0003863	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity
GO:0005515	protein binding
GO:0016831	carboxy-lyase activity

Biological Process

GO:0008152	metabolic process
GO:0009083	branched-chain amino acid catabolic process
GO:0034641	cellular nitrogen compound metabolic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005739	mitochondrion
GO:0005759	mitochondrial matrix
GO:0005947	mitochondrial alpha-ketoglutarate dehydrogenase complex

Protein Structure and Domains

PDB ID

InterPro

IPR005475 Transketolase-like, pyrimidine-binding domain
IPR005476 Transketolase, C-terminal
IPR009014 Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II
IPR029061 Thiamin diphosphate-binding fold

PFAM

PF02779
PF02780

PRINTS

PIRSF

SMART

SM00861

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P21953