Entity Details

Primary name G6PC1
Entity type gene
Source Source Link

Details

PrimaryID2538
RefseqGeneNG_011808
SymbolG6PC1
Nameglucose-6-phosphatase catalytic subunit 1
Chromosome17
Location17q21.31
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-07-15
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsG6PC1_HUMAN

GO terms

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GOName
GO:0004346 glucose-6-phosphatase activity
GO:0005789 endoplasmic reticulum membrane
GO:0005977 glycogen metabolic process
GO:0005980 glycogen catabolic process
GO:0006094 gluconeogenesis
GO:0006641 triglyceride metabolic process
GO:0008202 steroid metabolic process
GO:0009743 response to carbohydrate
GO:0010468 regulation of gene expression
GO:0015760 glucose-6-phosphate transport
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016773 phosphotransferase activity, alcohol group as acceptor
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0032094 response to food
GO:0032869 cellular response to insulin stimulus
GO:0035264 multicellular organism growth
GO:0042301 phosphate ion binding
GO:0042593 glucose homeostasis
GO:0042632 cholesterol homeostasis
GO:0046415 urate metabolic process
GO:0046838 phosphorylated carbohydrate dephosphorylation
GO:0051156 glucose 6-phosphate metabolic process
GO:1904638 response to resveratrol

Diseases

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Disease IDSourceNameDescription
232200 OMIMGlycogen storage disease 1A (GSD1A)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

9 interactions