MGP Database

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MGP002213

UniProt Annotations

Entry Information
Gene Namephosphoenolpyruvate carboxykinase 1 (soluble)
Protein EntryPCKGC_HUMAN
UniProt IDP35558
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P35558-1; Sequence=Displayed; Name=2; IsoId=P35558-2; Sequence=VSP_057073, VSP_057074; Note=No experimental confirmation available.;
Catalytic ActivityGTP + oxaloacetate = GDP + phosphoenolpyruvate + CO(2).
CofactorName=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence={ECO:0000269|PubMed:11851336}; Note=Binds 1 Mn(2+) ion per subunit. {ECO:0000269|PubMed:11851336};
DiseaseCytosolic phosphoenolpyruvate carboxykinase deficiency (C-PEPCKD) [MIM:261680]: 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.
Enzyme RegulationEnzyme activity is enhanced by acetylation. {ECO:0000269|PubMed:20167786}.
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.
InductionRegulated by cAMP and insulin. {ECO:0000269|PubMed:1656199}.
MiscellaneousIn eukaryotes there are two isozymes: a cytoplasmic one and a mitochondrial one.
PathwayCarbohydrate biosynthesis; gluconeogenesis.
PtmLysine acetylation by p300/EP300 is increased on high glucose conditions and promotes ubiquitination by UBR5, acetylation is enhanced in the presence of BAG6. Deacetylated by SIRT2. {ECO:0000269|PubMed:20167786, ECO:0000269|PubMed:21726808}.
PtmUbiquitination by UBR5 leads to proteasomal degradation. {ECO:0000269|PubMed:21726808}.
SimilarityBelongs to the phosphoenolpyruvate carboxykinase [GTP] family. {ECO:0000305}.
Subcellular LocationCytoplasm.
SubunitMonomer. {ECO:0000269|PubMed:11851336}.
Tissue SpecificityMajor sites of expression are liver, kidney and adipocytes.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/pck1/";
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