InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: G6PC

Summary

InnateDB Protein

IDBP-51940.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

G6PC

Protein Name

glucose-6-phosphatase, catalytic subunit

Synonyms

G6PC1; G6PT; GSD1; GSD1a;

Species

Homo sapiens

Ensembl Protein

ENSP00000253801

InnateDB Gene

IDBG-51938 (G6PC)

Protein Structure

UniProt Annotation

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 through glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels.

Subcellular Localization

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Disease Associations

Glycogen 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:0000269PubMed:10070617, ECO:0000269PubMed:10094563, ECO:0000269PubMed:10447271, ECO:0000269PubMed:10612834, ECO:0000269PubMed:10738005, ECO:0000269PubMed:10748407, ECO:0000269PubMed:10874313, ECO:0000269PubMed:10960498, ECO:0000269PubMed:11058903, ECO:0000269PubMed:11058910, ECO:0000269PubMed:12373566, ECO:0000269PubMed:15151508, ECO:0000269PubMed:15316959, ECO:0000269PubMed:15542400, ECO:0000269PubMed:7573034, ECO:0000269PubMed:7623438, ECO:0000269PubMed:7655466, ECO:0000269PubMed:8182131, ECO:0000269PubMed:8733042, ECO:0000269PubMed:9001800, ECO:0000269PubMed:9332655, ECO:0000269PubMed:9506659, ECO:0000269PubMed:9700612, ECO:0000269PubMed:9700613}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.

Experimentally validated
Total	7 [view]
Protein-Protein	3 [view]
Protein-DNA	4 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0004346	glucose-6-phosphatase activity
GO:0016773	phosphotransferase activity, alcohol group as acceptor
GO:0042301	phosphate ion binding

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0005977	glycogen metabolic process
GO:0005980	glycogen catabolic process
GO:0006094	gluconeogenesis
GO:0006641	triglyceride metabolic process
GO:0006796	phosphate-containing compound metabolic process
GO:0008202	steroid metabolic process
GO:0008645	hexose transport
GO:0010468	regulation of gene expression
GO:0015758	glucose transport
GO:0015760	glucose-6-phosphate transport
GO:0016311	dephosphorylation
GO:0032094	response to food
GO:0035264	multicellular organism growth
GO:0042593	glucose homeostasis
GO:0042632	cholesterol homeostasis
GO:0044281	small molecule metabolic process
GO:0046415	urate metabolic process
GO:0046838	phosphorylated carbohydrate dephosphorylation
GO:0051156	glucose 6-phosphate metabolic process
GO:0055085	transmembrane transport
GO:0055088	lipid homeostasis

Cellular Component

GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0030176	integral component of endoplasmic reticulum membrane
GO:0043231	intracellular membrane-bounded organelle