ID:G6PD_HUMAN DESCRIPTION: RecName: Full=Glucose-6-phosphate 1-dehydrogenase; Short=G6PD; EC=1.1.1.49; FUNCTION: Produces pentose sugars for nucleic acid synthesis and main producer of NADPH reducing power. CATALYTIC ACTIVITY: D-glucose 6-phosphate + NADP(+) = 6-phospho-D- glucono-1,5-lactone + NADPH. PATHWAY: Carbohydrate degradation; pentose phosphate pathway; D- ribulose 5-phosphate from D-glucose 6-phosphate (oxidative stage): step 1/3. SUBUNIT: Homodimer or homotetramer. TISSUE SPECIFICITY: Isoform Long is found in lymphoblasts, granulocytes and sperm. POLYMORPHISM: The sequence shown is that of variant B, the most common variant. DISEASE: Defects in G6PD are the cause of chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900]. 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 CNSHA 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. MISCELLANEOUS: Has NADP both as cofactor (bound to the N-terminal domain) and as structural element bound to the C-terminal domain. SIMILARITY: Belongs to the glucose-6-phosphate dehydrogenase family. SEQUENCE CAUTION: Sequence=AAA63175.1; Type=Erroneous initiation; WEB RESOURCE: Name=G6PD; Note=G6PD deficiency resource; URL="http://rialto.com/g6pd/"; WEB RESOURCE: Name=G6PDdb; Note=G6PD mutation database; URL="http://www.bioinf.org.uk/g6pd/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/G6PD"; WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=G6PD";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P11413
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: 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:0010041 response to iron(III) ion GO:0010734 negative regulation of protein glutathionylation GO:0014070 response to organic cyclic compound GO:0019322 pentose biosynthetic process GO:0021762 substantia nigra development GO:0032094 response to food GO:0034599 cellular response to oxidative stress GO:0043249 erythrocyte maturation GO:0043523 regulation of neuron apoptotic process GO:0045471 response to ethanol GO:0046390 ribose phosphate biosynthetic process GO:0051156 glucose 6-phosphate metabolic process GO:0055114 oxidation-reduction process GO:0061052 negative regulation of cell growth involved in cardiac muscle cell development 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
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
