Entity Details

Primary name G6PD_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP11413
EntryNameG6PD_HUMAN
FullNameGlucose-6-phosphate 1-dehydrogenase
TaxID9606
Evidenceevidence at protein level
Length515
SequenceStatuscomplete
DateCreated1989-10-01
DateModified2021-06-02

Ontological Relatives

GenesG6PD

GO terms

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GOName
GO:0004345 glucose-6-phosphate dehydrogenase activity
GO:0005536 glucose binding
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
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:0009898 cytoplasmic side of plasma membrane
GO:0010041 response to iron(III) ion
GO:0010734 negative regulation of protein glutathionylation
GO:0014070 response to organic cyclic compound
GO:0016020 membrane
GO:0019322 pentose biosynthetic process
GO:0021762 substantia nigra development
GO:0032094 response to food
GO:0034451 centriolar satellite
GO:0034599 cellular response to oxidative stress
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0043231 intracellular membrane-bounded organelle
GO:0043249 erythrocyte maturation
GO:0043523 regulation of neuron apoptotic process
GO:0045471 response to ethanol
GO:0046390 ribose phosphate biosynthetic process
GO:0050661 NADP binding
GO:0051156 glucose 6-phosphate metabolic process
GO:0061052 negative regulation of cell growth involved in cardiac muscle cell development
GO:0070062 extracellular exosome
GO:1904879 positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel
GO:2000378 negative regulation of reactive oxygen species metabolic process

Subcellular Location

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Subcellular Location
Cytoplasm
Membrane

Domains

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DomainNameCategoryType
IPR001282 Glucose-6-phosphate dehydrogenaseFamilyFamily
IPR019796 Glucose-6-phosphate dehydrogenase, active siteSiteActive site
IPR022674 Glucose-6-phosphate dehydrogenase, NAD-bindingDomainDomain
IPR022675 Glucose-6-phosphate dehydrogenase, C-terminalDomainDomain
IPR036291 NAD(P)-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
300908 OMIMAnemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA)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. The disease is caused by variants 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.

Drugs

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DrugNameSourceType
DB03085 Glycolic acidDrugbanksmall molecule
DB03461 Nicotinamide adenine dinucleotide phosphateDrugbanksmall molecule
DB05107 16-BromoepiandrosteroneDrugbanksmall molecule
DB11638 ArtenimolDrugbanksmall molecule