InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: G6PC

Summary

InnateDB Gene

IDBG-51938.6

Last Modified

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

Gene Symbol

G6PC

Gene Name

glucose-6-phosphatase, catalytic subunit

Synonyms

G6PC1; G6PT; GSD1; GSD1a

Species

Homo sapiens

Ensembl Gene

ENSG00000131482

Encoded Proteins

IDBP-51940

glucose-6-phosphatase, catalytic subunit

IDBP-761811

IDBP-762040

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 17:42900797-42913369

Strand

Forward strand

Band

q21.31

Transcripts

ENST00000253801	ENSP00000253801
ENST00000585489	ENSP00000466202
ENST00000592383	ENSP00000465958
ENST00000588481

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:0008152	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