InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: G6PD

Summary

InnateDB Protein

IDBP-91756.7

Last Modified

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

Gene Symbol

G6PD

Protein Name

glucose-6-phosphate dehydrogenase

Synonyms

G6PD1;

Species

Homo sapiens

Ensembl Protein

ENSP00000358633

InnateDB Gene

IDBG-91750 (G6PD)

Protein Structure

UniProt Annotation

Function

Catalyzes the rate-limiting step of the oxidative pentose-phosphate pathway, which represents a route for the dissimilation of carbohydrates besides glycolysis. The main function of this enzyme is to provide reducing power (NADPH) and pentose phosphates for fatty acid and nucleic acid synthesis. {ECO:0000269PubMed:15858258, ECO:0000269PubMed:24769394}.

Subcellular Localization

Disease Associations

Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]: A disease characterized by G6PD deficiency, acute hemolytic anemia, fatigue, back pain, and jaundice. In most patients, the disease is triggered by an exogenous agent, such as some drugs, food, or infection. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. Although G6PD deficiency can be life-threatening, most patients are asymptomatic throughout their life. {ECO:0000269PubMed:1611091}. Note=The disease is caused by mutations affecting the gene represented in this entry. Deficiency of G6PD is associated with hemolytic anemia in two different situations. First, in areas in which malaria has been endemic, G6PD-deficiency alleles have reached high frequencies (1% to 50%) and deficient individuals, though essentially asymptomatic in the steady state, have a high risk of acute hemolytic attacks. Secondly, sporadic cases of G6PD deficiency occur at a very low frequencies, and they usually present a more severe phenotype. Several types of NSHA are recognized. Class-I variants are associated with severe NSHA; class-II have an activity <10% of normal; class-III have an activity of 10% to 60% of normal; class- IV have near normal activity.

Tissue Specificity

Isoform Long is found in lymphoblasts, granulocytes and sperm.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 45 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	45 [view]
Protein-Protein	42 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004345	glucose-6-phosphate dehydrogenase activity
GO:0005515	protein binding
GO:0005536	glucose binding
GO:0042803	protein homodimerization activity
GO:0050661	NADP binding

Biological Process

GO:0001816	cytokine production
GO:0005975	carbohydrate metabolic process
GO:0006006	glucose metabolic process
GO:0006098	pentose-phosphate shunt
GO:0006629	lipid metabolic process
GO:0006695	cholesterol biosynthetic process
GO:0006739	NADP metabolic process
GO:0006740	NADPH regeneration
GO:0006749	glutathione metabolic process
GO:0009051	pentose-phosphate shunt, oxidative branch
GO:0010734	negative regulation of protein glutathionylation
GO:0019322	pentose biosynthetic process
GO:0021762	substantia nigra development
GO:0034599	cellular response to oxidative stress
GO:0043249	erythrocyte maturation
GO:0044281	small molecule metabolic process
GO:0046390	ribose phosphate biosynthetic process
GO:0051156	glucose 6-phosphate metabolic process
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0009898	cytoplasmic side of plasma membrane
GO:0016020	membrane
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR001282 Glucose-6-phosphate dehydrogenase
IPR022674 Glucose-6-phosphate dehydrogenase, NAD-binding
IPR022675 Glucose-6-phosphate dehydrogenase, C-terminal

PFAM

PF00479
PF02781

PRINTS

PR00079

PIRSF

PIRSF000110

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt