G6PD glucose-6-phosphate dehydrogenase [Homo sapiens (human)]
| 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 |
| hsa00480 | Glutathione metabolism |
| hsa01100 | Metabolic pathways |
| hsa00030 | Pentose phosphate pathway |
WikiPathways
| WP134 | Pentose Phosphate Pathway |
| WP100 | Glutathione metabolism |
Reactome
| REACT_1859 | Pentose phosphate pathway (hexose monophosphate shunt) |
| REACT_474 | Metabolism of carbohydrates |
| Homo sapiens (human) | G6PD | NP_000393.4 |
| Canis lupus familiaris (dog) | G6PD | XP_538209.2 |
| Bos taurus (cattle) | G6PD | XP_583628.4 |
| Mus musculus (house mouse) | G6pdx | NP_032088.1 |
| Rattus norvegicus (Norway rat) | G6pd | NP_058702.1 |
| Danio rerio (zebrafish) | wu:fj78b06 | XP_699168.3 |
| Danio rerio (zebrafish) | LOC100148915 | XP_001922853.2 |
| Drosophila melanogaster (fruit fly) | Zw | NP_523411.1 |
| Caenorhabditis elegans | glucose-6-phosphate-1-dehydrogenase | NP_502129.1 |
| Arabidopsis thaliana (thale cress) | G6PD5 | NP_001078214.1 |
| Arabidopsis thaliana (thale cress) | G6PD6 | NP_198892.1 |
| ID | Name | Evidence |
| GO:0001816 | cytokine production | IMP |
| GO:0005975 | carbohydrate metabolic process | TAS |
| GO:0006098 | pentose-phosphate shunt | IDA |
| GO:0006098 | pentose-phosphate shunt | TAS |
| GO:0006629 | lipid metabolic process | TAS |
| GO:0006695 | cholesterol biosynthetic process | IMP |
| GO:0006740 | NADPH regeneration | IMP |
| GO:0006749 | glutathione metabolic process | IMP |
| GO:0009051 | pentose-phosphate shunt, oxidative branch | IMP |
| GO:0010734 | negative regulation of protein glutathionylation | IMP |
| GO:0019322 | pentose biosynthetic process | IDA |
| GO:0034599 | cellular response to oxidative stress | IMP |
| GO:0043249 | erythrocyte maturation | IMP |
| GO:0046390 | ribose phosphate biosynthetic process | IMP |
| GO:0051156 | glucose 6-phosphate metabolic process | IMP |
| GO:0055114 | oxidation-reduction process | IMP |
Component
| ID | Name | Evidence |
| GO:0005737 | cytoplasm | IDA |
| GO:0005813 | centrosome | IDA |
| GO:0005829 | cytosol | IDA |
| GO:0005829 | cytosol | TAS |
| GO:0009898 | internal side of plasma membrane | IDA |
| GO:0043231 | intracellular membrane-bounded organelle | IDA |
Function
| ID | Name | Evidence |
| GO:0004345 | glucose-6-phosphate dehydrogenase activity | IMP |
| GO:0005488 | binding | IEA |
| GO:0005536 | glucose binding | IDA |
| GO:0005536 | glucose binding | IMP |
| GO:0016491 | oxidoreductase activity | IEA |
| GO:0042803 | protein homodimerization activity | IPI |
| GO:0050661 | NADP binding | IDA |
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