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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]
G6PC1 (Glucose-6-Phosphatase Catalytic Subunit 1) is a Protein Coding gene. Diseases associated with G6PC1 include Glycogen Storage Disease Ia and Hypoglycemia. Among its related pathways are DNA Damage Response (only ATM dependent) and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. An important paralog of this gene is G6PC2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004346 | glucose-6-phosphatase activity | IBA,IDA | 8211187 |
GO:0005515 | protein binding | IPI | 32814053 |
GO:0016773 | phosphotransferase activity, alcohol group as acceptor | IEA | -- |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0042301 | phosphate ion binding | IMP | 12093795 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0016020 | membrane | IEA,IBA | 21873635 |
GO:0016021 | integral component of membrane | IEA,IDA | 10318794 |
GO:0030176 | integral component of endoplasmic reticulum membrane | TAS | 10318794 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Galactose metabolism |
Galactose metabolism
.38
|
|
2 | Glucose metabolism |
Glycolysis and gluconeogenesis (short map)
.58
|
|
3 | Metabolism |
.40
|
|
4 | Hexose transport |
.85
|
|
5 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005977 | glycogen metabolic process | IEA,TAS | 8211187 |
GO:0005980 | glycogen catabolic process | IEA | -- |
GO:0006094 | gluconeogenesis | TAS | -- |
GO:0006641 | triglyceride metabolic process | IEA | -- |
GO:0006796 | phosphate-containing compound metabolic process | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
alpha-D-Glucose |
|
492-62-6 |
|
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | G6PC 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | G6PC 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | G6PC 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | G6pc 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | G6pc 30 |
|
||
Chicken (Gallus gallus) |
Aves | LOC100857298 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | g6pc2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | g6pca.2 30 31 |
|
OneToMany | |
g6pca.1 31 |
|
OneToMany | |||
g6pcb 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG15400 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
841886 | Pathogenic: Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 42,907,566(+) |
C/G NM_000151.4(G6PC1):c.384C>G (p.Tyr128Ter) |
NONSENSE,INTRON | |
846527 | Likely Pathogenic: Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 42,910,978(+) |
A/G NM_000151.4(G6PC1):c.626A>G (p.Tyr209Cys) |
MISSENSE_VARIANT,THREE_PRIME_UTR | |
855275 | Pathogenic: Glycogen storage disease due to glucose-6-phosphatase deficiency type IA; not provided | 42,901,104(+) |
G/C NM_000151.4(G6PC1):c.228G>C (p.Lys76Asn) |
MISSENSE | |
862241 | Uncertain Significance: Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 42,907,523(+) |
G/C NM_000151.4(G6PC1):c.341G>C (p.Gly114Ala) |
MISSENSE_VARIANT,INTRON | |
863144 | Pathogenic: Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 42,907,538(+) |
A/T NM_000151.4(G6PC1):c.356A>T (p.His119Leu) |
MISSENSE_VARIANT,INTRON |
Disorder | Aliases | PubMed IDs |
---|---|---|
glycogen storage disease ia |
|
|
hypoglycemia |
|
|
glycogen storage disease due to glucose-6-phosphatase deficiency |
|
|
glycogen storage disease |
|
|
hyperuricemia |
|
|