MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP001123

UniProt Annotations

Entry Information
Gene Nameglucose-6-phosphate dehydrogenase
Protein EntryG6PD_HUMAN
UniProt IDP11413
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=Short; IsoId=P11413-1; Sequence=Displayed; Name=Long; IsoId=P11413-2; Sequence=VSP_001592; Name=3; IsoId=P11413-3; Sequence=VSP_037802; Note=Contains a phosphoserine at position 26.;
Biophysicochemical PropertiesKinetic parameters: KM=7.07 uM for NADP {ECO:0000269|PubMed:15858258}; KM=52 uM for glucose 6-phosphate {ECO:0000269|PubMed:15858258};
Catalytic ActivityD-glucose 6-phosphate + NADP(+) = 6-phospho-D- glucono-1,5-lactone + NADPH. {ECO:0000269|PubMed:15858258}.
DiseaseAnemia, 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:0000269|PubMed: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.
FunctionCatalyzes 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:0000269|PubMed:15858258, ECO:0000269|PubMed:24769394}.
InteractionP04792:HSPB1; NbExp=2; IntAct=EBI-4289891, EBI-352682;
MiscellaneousBinds two molecules of NADP. The first one is a cosubstrate (bound to the N-terminal domain), the second is bound to the C-terminal domain and functions as a structural element.
PathwayCarbohydrate degradation; pentose phosphate pathway; D- ribulose 5-phosphate from D-glucose 6-phosphate (oxidative stage): step 1/3.
PolymorphismThe sequence shown is that of variant B, the most common variant.
PtmAcetylated by ELP3 at Lys-403; acetylation inhibits its homodimerization and enzyme activity. Deacetylated by SIRT2 at Lys-403; deacetylation stimulates its enzyme activity. {ECO:0000269|PubMed:19413330, ECO:0000269|PubMed:19608861, ECO:0000269|PubMed:22223895, ECO:0000269|PubMed:22814378, ECO:0000269|PubMed:24769394, ECO:0000269|PubMed:7857286}.
Sequence CautionSequence=AAA63175.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityBelongs to the glucose-6-phosphate dehydrogenase family. {ECO:0000305}.
SubunitHomotetramer; dimer of dimers. Interacts with SIRT2; the interaction is enhanced by H(2)O(2) treatment. {ECO:0000269|PubMed:10745013, ECO:0000269|PubMed:15858258, ECO:0000269|PubMed:24769394}.
Tissue SpecificityIsoform Long is found in lymphoblasts, granulocytes and sperm.
Web ResourceName=G6PDdb; Note=G6PD mutation database; URL="http://www.bioinf.org.uk/g6pd/";
Web ResourceName=G6PD; Note=G6PD deficiency resource; URL="http://rialto.com/g6pd/";
Web ResourceName=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=G6PD";
  logo