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MGP002214

UniProt Annotations

Entry Information
Gene Namephosphoenolpyruvate carboxykinase 2 (mitochondrial)
Protein EntryPCKGM_HUMAN
UniProt IDQ16822
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q16822-1; Sequence=Displayed; Name=2; IsoId=Q16822-2; Sequence=VSP_038783;
Catalytic ActivityGTP + oxaloacetate = GDP + phosphoenolpyruvate + CO(2).
CofactorName=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence={ECO:0000250}; Note=Binds 1 Mn(2+) ion per subunit. {ECO:0000250};
DiseaseMitochondrial phosphoenolpyruvate carboxykinase deficiency (M-PEPCKD) [MIM:261650]: Metabolic disorder resulting from impaired gluconeogenesis. It is a rare disease with less than 10 cases reported in the literature. Clinical characteristics include hypotonia, hepatomegaly, failure to thrive, lactic acidosis and hypoglycemia. Autopsy reveals fatty infiltration of both the liver and kidneys. The disorder is transmitted as an autosomal recessive trait. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle. {ECO:0000250}.
InteractionP84022:SMAD3; NbExp=2; IntAct=EBI-2825219, EBI-347161;
MiscellaneousIn eukaryotes there are two isozymes: a cytoplasmic one and a mitochondrial one.
PathwayCarbohydrate biosynthesis; gluconeogenesis.
Sequence CautionSequence=CAD62600.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the phosphoenolpyruvate carboxykinase [GTP] family. {ECO:0000305}.
Subcellular LocationMitochondrion.
SubunitMonomer.
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