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Gene Ontology Classifications
Symbol
Name
ID
G6pc
glucose-6-phosphatase, catalytic
MGI:95607

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of G6pc. (This text reflects annotations as of Thursday, July 24, 2014.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of April 28, 2008. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
References
  1. Garver WS et al. (2000) Localization of the murine Niemann-Pick C1 protein to two distinct intracellular compartments. J Lipid Res, 41:673-87. (PubMed:10787428)
  2. Hiraiwa H et al. (2001) A molecular link between the common phenotypes of type 1 glycogen storage disease and HNF1alpha-null mice. J Biol Chem, 276:7963-7. (PubMed:11121425)
  3. Lei KJ et al. (1996) Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse. Nat Genet, 13:203-9. (PubMed:8640227)
  4. Shelly LL et al. (1993) Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A. J Biol Chem, 268:21482-5. (PubMed:8407995)
  5. Shieh JJ et al. (2004) A potential new role for muscle in blood glucose homeostasis. J Biol Chem, 279:26215-9. (PubMed:15087461)
  6. Walker EA et al. (2007) 11beta-Hydroxysteroid Dehydrogenase Type 1 Regulation by Intracellular Glucose 6-Phosphate Provides Evidence for a Novel Link between Glucose Metabolism and Hypothalamo-Pituitary-Adrenal Axis Function. J Biol Chem, 282:27030-6. (PubMed:17588937)
  7. Zingone A et al. (2000) Correction of glycogen storage disease type 1a in a mouse model by gene therapy. J Biol Chem, 275:828-32. (PubMed:10625614)



Go Annotations in Tabular Form (Text View) (GO Graph)

 
 


Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/11/2014
MGI 5.20
The Jackson Laboratory