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  3. PCK1

PCK1 (Phosphoenolpyruvate carboxykinase 1)

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The Function of PCK1

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.

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Protein names

Recommended name:

Phosphoenolpyruvate carboxykinase, cytosolic [GTP]

Short name:

PEPCK-C

PCK1 SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS1042523 (PCK1) ??
  2. RS2070755 (PCK1) ??
  3. RS2179706 (PCK1) ??
  4. RS8192708 (PCK1) ??

Top Gene-Substance Interactions

PCK1 Interacts with These Diseases

Disease Score

Substances That Increase PCK1

Substances Interaction Organism Category

Substances That Decrease PCK1

Substances Interaction Organism Category

Advanced Summary

     From NCBI Gene: Phosphoenolpyruvate carboxykinase deficiency, cytosolicFrom UniProt: Cytosolic phosphoenolpyruvate carboxykinase deficiency (C-PEPCKD): 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. [MIM:261680]

     From NCBI Gene: This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expression of this gene can be regulated by insulin, glucocorticoids, glucagon, cAMP, and diet. Defects in this gene are a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency. A mitochondrial isozyme of the encoded protein also has been characterized. [provided by RefSeq, Jul 2008] From UniProt: 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.

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • PPAR-gamma1
  • PPAR-gamma2
  • GR
  • GR-alpha
  • GR-beta
  • C/EBPalpha

Tissue specificity:

Major sites of expression are liver, kidney and adipocytes.

Gene Pathways:

  • Metabolic pathways
  • Metabolism
  • Disease
  • Citrate cycle (TCA cycle)
  • PPAR signaling pathway
  • Adipocytokine signaling pathway
  • Insulin signaling pathway
  • Glycolysis / Gluconeogenesis
  • Proximal tubule bicarbonate reclamation
  • Pyruvate metabolism
  • Metabolism

Induction:

Regulated by cAMP and insulin.

Enzyme Regulation:

Enzyme activity is enhanced by acetylation.

Cofactor:

Binds 1 Mn(2+) ion per subunit.

Molecular Function:

  • Carboxylic Acid Binding
  • Gdp Binding
  • Gtp Binding
  • Magnesium Ion Binding
  • Manganese Ion Binding
  • Nucleoside Diphosphate Kinase Activity
  • Phosphoenolpyruvate Carboxykinase (Gtp) Activity

Biological Processes:

  • Aging
  • Cellular Response To Camp
  • Cellular Response To Fructose Stimulus
  • Cellular Response To Glucagon Stimulus
  • Cellular Response To Hypoxia
  • Cellular Response To Insulin Stimulus
  • Cellular Response To Interleukin-1
  • Cellular Response To Potassium Ion Starvation
  • Cellular Response To Retinoic Acid
  • Cellular Response To Tumor Necrosis Factor
  • Gluconeogenesis
  • Glucose Homeostasis
  • Glucose Metabolic Process
  • Glycerol Biosynthetic Process From Pyruvate
  • Internal Protein Amino Acid Acetylation
  • Oxaloacetate Metabolic Process
  • Positive Regulation Of Transcription From Rna Polymerase Ii Promoter In Response To Acidic Ph
  • Response To Insulin
  • Response To Interleukin-6
  • Response To Lipopolysaccharide
  • Response To Methionine
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| GTP| A306_08473| Anapl_00271| AS27_03208| AS28_06982| CB1_000875023| cytosolic phosphoenolpyruvate carboxykinase| cytosolic phosphoenolpyruvate carboxykinase 1| D623_10013741| EGK_02261| fj93h11| gluconeogenic enzyme| GW7_10218| H920_07263| M91_17519| M959_06532| MDA_GLEAN10009901| N300_15742| N301_06275| N302_00395| N303_11128| N305_13221| N306_01701| N307_09862| N310_12960| N312_02734| N320_02358| N321_04260| N322_10234| N324_12931| N325_03467| N326_04065| N327_12581| N328_04693| N329_03234| N330_10630| N332_00703| N333_09593| N334_03588| N335_07434| N336_12359| N339_01697| N340_00364| N341_10034| PAL_GLEAN10024551| PANDA_003587| PCK| Pck-1| PEP carboxykinase| PEPCK| PEPCK1| pepckc| PEPCK-C| phosphoenolpyruvate carboxykinase 1, cytosolic| phosphoenolpyruvate carboxykinase 1 (soluble)| phosphoenolpyruvate carboxykinase 1 variant 1| phosphoenolpyruvate carboxykinase 1 variant 2| phosphoenolpyruvate carboxykinase 1 variant 3| phosphoenolpyruvate carboxykinase 1 variant 4| phosphoenolpyruvate carboxykinase 1 variant 5| Phosphoenolpyruvate carboxykinase, cytosolic| phosphoenolpyruvate carboxykinase, cytosolic (GTP)| phosphoenolpyruvate carboxykinase, cytosolic [GTP]| phosphoenolpyruvate carboxykinase, cytosolic [GTP]-like protein| phosphoenolpyruvate carboxykinase (GTP)| phosphoenolpyruvate carboxylase| phosphopyruvate carboxylase| PPCK1| ppckc| RATPEPCK| TREES_T100015618| UY3_07035| XELAEV_18043503mg| Y1Q_029240| Y956_12867| Z169_03688| pck1

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