Catalyzes 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. Defects in PCK1 are the cause of cytosolic phosphoenolpyruvate carboxykinase deficiency (C-PEPCKD). A 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. Autoposy reveals fatty infiltration of both the liver and kidneys. The disorder is transmitted as an autosomal recessive trait. Belongs to the phosphoenolpyruvate carboxykinase [GTP] family. Note: This description may include information from UniProtKB.
Protein type: EC 18.104.22.168; Lyase; Carbohydrate Metabolism - citrate (TCA) cycle; Carbohydrate Metabolism - glycolysis and gluconeogenesis; Carbohydrate Metabolism - pyruvate; Kinase, other
Chromosomal Location of Human Ortholog: 20q13.31
Cellular Component: cytoplasm; cytosol
Molecular Function: GDP binding; GTP binding; carboxylic acid binding; manganese ion binding; phosphoenolpyruvate carboxykinase (GTP) activity; magnesium ion binding
Biological Process: oxaloacetate metabolic process; carbohydrate metabolic process; glucose metabolic process; response to activity; drug metabolic process; internal protein amino acid acetylation; glucose homeostasis; glycerol biosynthetic process from pyruvate; response to insulin stimulus; gluconeogenesis
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.