MGP Database

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MGP001122

UniProt Annotations

Entry Information
Gene Nameglucose-6-phosphatase, catalytic subunit
Protein EntryG6PC_HUMAN
UniProt IDP35575
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P35575-1; Sequence=Displayed; Name=2; IsoId=P35575-2; Sequence=VSP_047558, VSP_047559; Note=No experimental confirmation available.;
Catalytic ActivityD-glucose 6-phosphate + H(2)O = D-glucose + phosphate.
DiseaseGlycogen storage disease 1A (GSD1A) [MIM:232200]: A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. {ECO:0000269|PubMed:10070617, ECO:0000269|PubMed:10094563, ECO:0000269|PubMed:10447271, ECO:0000269|PubMed:10612834, ECO:0000269|PubMed:10738005, ECO:0000269|PubMed:10748407, ECO:0000269|PubMed:10874313, ECO:0000269|PubMed:10960498, ECO:0000269|PubMed:11058903, ECO:0000269|PubMed:11058910, ECO:0000269|PubMed:12373566, ECO:0000269|PubMed:15151508, ECO:0000269|PubMed:15316959, ECO:0000269|PubMed:15542400, ECO:0000269|PubMed:7573034, ECO:0000269|PubMed:7623438, ECO:0000269|PubMed:7655466, ECO:0000269|PubMed:8182131, ECO:0000269|PubMed:8733042, ECO:0000269|PubMed:9001800, ECO:0000269|PubMed:9332655, ECO:0000269|PubMed:9506659, ECO:0000269|PubMed:9700612, ECO:0000269|PubMed:9700613}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionHydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with the glucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels.
PathwayCarbohydrate biosynthesis; gluconeogenesis.
Sequence CautionSequence=BAG64735.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
SimilarityBelongs to the glucose-6-phosphatase family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane; Multi-pass membrane protein.
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