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MGP002206

UniProt Annotations

Entry Information
Gene Namepyruvate carboxylase
Protein EntryPYC_HUMAN
UniProt IDP11498
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P11498-1; Sequence=Displayed; Name=2; IsoId=P11498-2; Sequence=VSP_056358, VSP_056359; Note=No experimental confirmation available.;
Catalytic ActivityATP + pyruvate + HCO(3)(-) = ADP + phosphate + oxaloacetate.
CofactorName=biotin; Xref=ChEBI:CHEBI:57586; Note=Biotin.;
CofactorName=Mn(2+); Xref=ChEBI:CHEBI:29035; Note=Binds 1 Mn(2+) ion per subunit.;
DiseasePyruvate carboxylase deficiency (PC deficiency) [MIM:266150]: Leads to lactic acidosis, mental retardation and death. It occurs in three forms: mild or type A, severe neonatal or type B, and a very mild lacticacidemia. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionPyruvate carboxylase catalyzes a 2-step reaction, involving the ATP-dependent carboxylation of the covalently attached biotin in the first step and the transfer of the carboxyl group to pyruvate in the second. Catalyzes in a tissue specific manner, the initial reactions of glucose (liver, kidney) and lipid (adipose tissue, liver, brain) synthesis from pyruvate.
InteractionQ03463:- (xeno); NbExp=7; IntAct=EBI-2211322, EBI-8803426;
PathwayCarbohydrate biosynthesis; gluconeogenesis.
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}.
SimilarityContains 1 carboxyltransferase domain. {ECO:0000305}.
Subcellular LocationMitochondrion matrix.
SubunitHomotetramer. {ECO:0000269|PubMed:18297087}.
Web ResourceName=Wikipedia; Note=Pyruvate carboxylase entry; URL="http://en.wikipedia.org/wiki/Pyruvate_carboxylase";
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