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MGP002210

UniProt Annotations

Entry Information
Gene Namepropionyl CoA carboxylase, alpha polypeptide
Protein EntryPCCA_HUMAN
UniProt IDP05165
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P05165-1; Sequence=Displayed; Name=2; IsoId=P05165-2; Sequence=VSP_039857; Name=3; IsoId=P05165-3; Sequence=VSP_044458;
Catalytic ActivityATP + propanoyl-CoA + HCO(3)(-) = ADP + phosphate + (S)-methylmalonyl-CoA.
CofactorName=biotin; Xref=ChEBI:CHEBI:57586; Note=Biotin.;
DiseasePropionic acidemia type I (PA-1) [MIM:606054]: Life- threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein. {ECO:0000269|PubMed:10101253, ECO:0000269|PubMed:10329019, ECO:0000269|PubMed:12559849, ECO:0000269|PubMed:15059621}. Note=The disease is caused by mutations affecting the gene represented in this entry.
PathwayMetabolic intermediate metabolism; propanoyl-CoA degradation; succinyl-CoA from propanoyl-CoA: step 1/3.
Sequence CautionSequence=AAA60035.1; Type=Frameshift; Positions=374, 378, 380, 395; Evidence={ECO:0000305}; Sequence=AAH00140.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAK61392.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA32763.1; Type=Frameshift; Positions=23; Evidence={ECO:0000305};
SimilarityContains 1 ATP-grasp domain. {ECO:0000255|PROSITE- ProRule:PRU00409}.
SimilarityContains 1 biotin carboxylation domain. {ECO:0000305}.
SimilarityContains 1 biotinyl-binding domain. {ECO:0000255|PROSITE-ProRule:PRU01066, ECO:0000305}.
Subcellular LocationMitochondrion matrix {ECO:0000269|PubMed:16023992}.
SubunitProbably a dodecamer composed of six biotin-containing alpha subunits and six beta subunits.
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