InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BCKDHA

Summary

InnateDB Protein

IDBP-52888.6

Last Modified

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

Gene Symbol

BCKDHA

Protein Name

branched chain keto acid dehydrogenase E1, alpha polypeptide

Synonyms

BCKDE1A; MSU; MSUD1; OVD1A;

Species

Homo sapiens

Ensembl Protein

ENSP00000269980

InnateDB Gene

IDBG-409016 (BCKDHA)

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 1A (MSUD1A) [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:1867199, ECO:0000269PubMed:1885764, ECO:0000269PubMed:2060625, ECO:0000269PubMed:21844576, ECO:0000269PubMed:2241958, ECO:0000269PubMed:2703538, ECO:0000269PubMed:7883996, ECO:0000269PubMed:8037208, 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 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	4 [view]
Protein-DNA	4 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003826	alpha-ketoacid dehydrogenase activity
GO:0003863	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity
GO:0005515	protein binding
GO:0016624	oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor
GO:0016831	carboxy-lyase activity
GO:0046872	metal ion binding

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