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MGP001173

UniProt Annotations

Entry Information
Gene Nameglutaryl-CoA dehydrogenase
Protein EntryGCDH_HUMAN
UniProt IDQ92947
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=Long; IsoId=Q92947-1; Sequence=Displayed; Name=Short; IsoId=Q92947-2; Sequence=VSP_000145;
Biophysicochemical PropertiesKinetic parameters: KM=4.7 uM for glutaryl-CoA (at pH 6.5) {ECO:0000269|PubMed:17176108, ECO:0000269|PubMed:6423663}; KM=5.5 uM for glutaryl-CoA (at pH 7.5) {ECO:0000269|PubMed:17176108, ECO:0000269|PubMed:6423663}; KM=8.1 uM for glutaryl-CoA (at pH 7.6) {ECO:0000269|PubMed:17176108, ECO:0000269|PubMed:6423663}; KM=34.0 uM for glutaryl-CoA (at pH 8.5) {ECO:0000269|PubMed:17176108, ECO:0000269|PubMed:6423663}; Note=Release of crotonyl-CoA product from the enzyme is the rate-determining step in its steady-state turnover.;
Catalytic ActivityGlutaryl-CoA + electron-transfer flavoprotein = crotonyl-CoA + CO(2) + reduced electron-transfer flavoprotein. {ECO:0000269|PubMed:8541831}.
CofactorName=FAD; Xref=ChEBI:CHEBI:57692;
DiseaseGlutaric aciduria 1 (GA1) [MIM:231670]: An autosomal recessive metabolic disorder characterized by progressive dystonia and athetosis due to gliosis and neuronal loss in the basal ganglia. {ECO:0000269|PubMed:14707522, ECO:0000269|PubMed:24973495, ECO:0000269|PubMed:8541831, ECO:0000269|PubMed:8900227, ECO:0000269|PubMed:8900228, ECO:0000269|PubMed:9600243}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationStrongly inhibited by MCPA-CoA, a metabolite of hypoglycin which is present in unripened fruit of the ackee tree. {ECO:0000269|PubMed:6423663}.
FunctionCatalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. Isoform Short is inactive. {ECO:0000269|PubMed:17176108, ECO:0000269|PubMed:6423663, ECO:0000269|PubMed:8541831}.
InteractionP62993:GRB2; NbExp=1; IntAct=EBI-1236978, EBI-401755; P29474:NOS3; NbExp=1; IntAct=EBI-1236978, EBI-1391623; P49768:PSEN1; NbExp=1; IntAct=EBI-1236978, EBI-297277;
PathwayAmino-acid metabolism; lysine degradation.
PathwayAmino-acid metabolism; tryptophan metabolism.
SimilarityBelongs to the acyl-CoA dehydrogenase family. {ECO:0000305}.
Subcellular LocationMitochondrion matrix.
SubunitHomotetramer. {ECO:0000269|PubMed:15274622, ECO:0000269|PubMed:18775954}.
Tissue SpecificityIsoform 1 and isoform 2 are expressed in fibroblasts and liver.
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