Entity Details

Primary name G6PC1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP35575
EntryNameG6PC1_HUMAN
FullNameGlucose-6-phosphatase catalytic subunit 1
TaxID9606
Evidenceevidence at protein level
Length357
SequenceStatuscomplete
DateCreated1994-06-01
DateModified2021-04-07

Ontological Relatives

GenesG6PC1

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

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR000326 Phosphatidic acid phosphatase type 2/haloperoxidaseDomainDomain
IPR016275 Glucose-6-phosphataseFamilyFamily
IPR036938 Phosphatidic acid phosphatase type 2/haloperoxidase superfamilyFamilyHomologous superfamily

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.