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MitoProteome Human Mitochondrial Protein Database
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Related Proteins
MT000074
UniProt Annotations
Entry Information
Gene Name
branched chain keto acid dehydrogenase E1, alpha polypeptide
Protein Entry
ODBA_HUMAN
UniProt ID
P12694
Species
Human
Comments
Comment type
Description
Alternative Products
Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P12694-1; Sequence=Displayed; Name=2; IsoId=P12694-2; Sequence=VSP_056156, VSP_056157; Note=No experimental confirmation available.;
Catalytic Activity
3-methyl-2-oxobutanoate + [dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] lipoyllysine = [dihydrolipoyllysine-residue (2- methylpropanoyl)transferase] S-(2- methylpropanoyl)dihydrolipoyllysine + CO(2).
Cofactor
Name=thiamine diphosphate; Xref=ChEBI:CHEBI:58937;
Disease
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:0000269|PubMed:1867199, ECO:0000269|PubMed:1885764, ECO:0000269|PubMed:2060625, ECO:0000269|PubMed:21844576, ECO:0000269|PubMed:2241958, ECO:0000269|PubMed:2703538, ECO:0000269|PubMed:7883996, ECO:0000269|PubMed:8037208, ECO:0000269|PubMed:8161368}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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).
Interaction
P21953:BCKDHB; NbExp=14; IntAct=EBI-1029053, EBI-1029067;
Miscellaneous
Bound potassium ions stabilize the protein structure.
Sequence Caution
Sequence=AAB59549.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Similarity
Belongs to the BCKDHA family. {ECO:0000305}.
Subcellular Location
Mitochondrion matrix.
Subunit
Heterotetramer of alpha and beta chains. {ECO:0000269|PubMed:10745006}.
MitoProteome Human Mitochondrial Protein Database
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