G6PC

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]

Full Name

Glucose-6-Phosphatase Catalytic Subunit

Function

Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with the glucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose production in the terminal step of glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels.

Biological Process

Cellular response to insulin stimulus Source: Ensembl
Cholesterol homeostasis Source: Ensembl
Gluconeogenesis Source: UniProtKB
Glucose 6-phosphate metabolic process Source: GO_Central
Glucose-6-phosphate transport Source: Ensembl
Glucose homeostasis Source: UniProtKB
Glycogen catabolic process Source: Ensembl
Glycogen metabolic process Source: ProtInc
Multicellular organism growth Source: Ensembl
Phosphorylated carbohydrate dephosphorylation Source: Ensembl
Regulation of gene expression Source: Ensembl
Response to carbohydrate Source: Ensembl
Response to food Source: Ensembl
Response to resveratrol Source: Ensembl
Steroid metabolic process Source: Ensembl
Triglyceride metabolic process Source: Ensembl
Urate metabolic process Source: Ensembl

Cellular Location

Endoplasmic reticulum membrane

Involvement in disease

Glycogen 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.

Topology

Lumenal: 1-28
Helical: 29-49
Cytoplasmic: 50-60
Helical: 61-81
Lumenal: 82-117
Helical: 118-138
Cytoplasmic: 139-147
Helical: 148-168
Lumenal: 169-179
Helical: 180-202
Cytoplasmic: 203-209
Helical: 210-230
Lumenal: 231-254
Helical: 255-275
Cytoplasmic: 276-291
Helical: 292-312
Lumenal: 313-320
Helical: 321-341
Cytoplasmic: 342-357