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G6PD glucose-6-phosphate dehydrogenase [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_001042351 Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA. Full Length $658.30
ORF Sequence $448.92
NM_000402 Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 1, mRNA. Full Length $694.55
ORF Sequence $475.02


Gene Symbol G6PD
Entrez Gene ID 2539
Full Name glucose-6-phosphate dehydrogenase
Synonyms G6PD1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xq28

Summary This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq].
Disorder

MIM: 305900

G6PD deficiency (3); Favism (3); Hemolytic anemia due

mRNA NM_001042351, 108773792
Protein NP_001035810, 108773793
Product glucose-6-phosphate 1-dehydrogenase isoform b
RefSeq Status REVIEWED
mRNA NM_000402, 108773794
Protein NP_000393, 109389365
Product glucose-6-phosphate 1-dehydrogenase isoform a
RefSeq Status REVIEWED
KEGG
hsa00480Glutathione metabolism
hsa01100Metabolic pathways
hsa00030Pentose phosphate pathway
WikiPathways
WP134Pentose Phosphate Pathway
WP100Glutathione metabolism
Reactome
REACT_1859Pentose phosphate pathway (hexose monophosphate shunt)
REACT_474Metabolism of carbohydrates
Homo sapiens (human)G6PDNP_000393.4
Canis lupus familiaris (dog)G6PDXP_538209.2
Bos taurus (cattle)G6PDXP_583628.4
Mus musculus (house mouse)G6pdxNP_032088.1
Rattus norvegicus (Norway rat)G6pdNP_058702.1
Danio rerio (zebrafish)wu:fj78b06XP_699168.3
Danio rerio (zebrafish)LOC100148915XP_001922853.2
Drosophila melanogaster (fruit fly)ZwNP_523411.1
Caenorhabditis elegansglucose-6-phosphate-1-dehydrogenaseNP_502129.1
Arabidopsis thaliana (thale cress)G6PD5NP_001078214.1
Arabidopsis thaliana (thale cress)G6PD6NP_198892.1
Process
IDNameEvidence
GO:0001816cytokine productionIMP
GO:0005975carbohydrate metabolic processTAS
GO:0006098pentose-phosphate shuntIDA
GO:0006098pentose-phosphate shuntTAS
GO:0006629lipid metabolic processTAS
GO:0006695cholesterol biosynthetic processIMP
GO:0006740NADPH regenerationIMP
GO:0006749glutathione metabolic processIMP
GO:0009051pentose-phosphate shunt, oxidative branchIMP
GO:0010734negative regulation of protein glutathionylationIMP
GO:0019322pentose biosynthetic processIDA
GO:0034599cellular response to oxidative stressIMP
GO:0043249erythrocyte maturationIMP
GO:0046390ribose phosphate biosynthetic processIMP
GO:0051156glucose 6-phosphate metabolic processIMP
GO:0055114oxidation-reduction processIMP
Component
IDNameEvidence
GO:0005737cytoplasmIDA
GO:0005813centrosomeIDA
GO:0005829cytosolIDA
GO:0005829cytosolTAS
GO:0009898internal side of plasma membraneIDA
GO:0043231intracellular membrane-bounded organelleIDA
Function
IDNameEvidence
GO:0004345glucose-6-phosphate dehydrogenase activityIMP
GO:0005488bindingIEA
GO:0005536glucose bindingIDA
GO:0005536glucose bindingIMP
GO:0016491oxidoreductase activityIEA
GO:0042803protein homodimerization activityIPI
GO:0050661NADP bindingIDA
GeneCards G6PD
PDB 2BH9, 2BHL, 1QKI
UniProt P11413
MIM 305900
Ensembl ENSG00000160211
HGNC 4057
HPRD 02377

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