{ "uniprot_canonical_ac": "P11413-1", "uniprot_ac": "P11413", "uniprot_id": "G6PD_HUMAN", "mass": { "chemical_mass": 59257.0, "monoisotopic_mass": 59257.0 }, "refseq": { "ac": "NP_000393", "name": "glucose-6-phosphate 1-dehydrogenase isoform a", "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, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000393" }, "gene_names": [ { "name": "G6PD", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P11413", "id": "P11413" }, { "name": "G6PD1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000393", "id": "NP_000393" }, { "name": "G6PD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000393", "id": "NP_000393" } ], "protein_names": [ { "name": "Glucose-6-phosphate 1-dehydrogenase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P11413" }, { "name": "1.1.1.49", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11413" }, { "name": "G6PD", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11413" }, { "name": "glucose-6-phosphate 1-dehydrogenase isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000393", "id": "NP_000393" }, { "name": "glucose-6-phosphate 1-dehydrogenase; epididymis secretory sperm binding protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000393", "id": "NP_000393" } ], "function": [ { "annotation": "Acetylation-dependent coupling between G6PD activity and apoptotic signaling. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000393" }, { "database": "PubMed", "id": "37798264", "url": "https://glygen.org/publication/PubMed/37798264" } ] }, { "annotation": "Catalyzes 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.", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413#function" }, { "database": "PubMed", "id": "24769394", "url": "https://glygen.org/publication/PubMed/24769394" }, { "database": "PubMed", "id": "15858258", "url": "https://glygen.org/publication/PubMed/15858258" }, { "database": "PubMed", "id": "26479991", "url": "https://glygen.org/publication/PubMed/26479991" }, { "database": "PubMed", "id": "743300", "url": "https://glygen.org/publication/PubMed/743300" }, { "database": "PubMed", "id": "35122041", "url": "https://glygen.org/publication/PubMed/35122041" }, { "database": "UniProtKB", "id": "A0A8Q3WL95", "url": "https://www.uniprot.org/uniprot/A0A8Q3WL95#function" }, { "database": "UniProtKB", "id": "RU362120", "url": "https://www.uniprot.org/uniprot/RU362120#function" }, { "database": "UniProtKB", "id": "A0A8Q3SJB9", "url": "https://www.uniprot.org/uniprot/A0A8Q3SJB9#function" }, { "database": "UniProtKB", "id": "E7EUI8", "url": "https://www.uniprot.org/uniprot/E7EUI8#function" }, { "database": "UniProtKB", "id": "A0A8Q3SIN6", "url": "https://www.uniprot.org/uniprot/A0A8Q3SIN6#function" }, { "database": "UniProtKB", "id": "A0A8Q3SIS5", "url": "https://www.uniprot.org/uniprot/A0A8Q3SIS5#function" }, { "database": "UniProtKB", "id": "E7EM57", "url": "https://www.uniprot.org/uniprot/E7EM57#function" } ] }, { "annotation": "First Insight into Drug Resistance Genetic Markers, Glucose-6-Phosphate Dehydrogenase and Phylogenetic Patterns of Misdiagnosed Plasmodium vivax Malaria in Far North Region, Cameroon. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000393" }, { "database": "PubMed", "id": "37968386", "url": "https://glygen.org/publication/PubMed/37968386" } ] }, { "annotation": "G6PD is a prognostic biomarker correlated with immune infiltrates in lung adenocarcinoma and pulmonary arterial hypertension.", "evidence": [ { "database": "RefSeq", "id": "NP_000393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000393" }, { "database": "PubMed", "id": "38194707", "url": "https://glygen.org/publication/PubMed/38194707" } ] }, { "annotation": "Prevalence and molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Senoi Malaysian Orang Asli population. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000393" }, { "database": "PubMed", "id": "38085718", "url": "https://glygen.org/publication/PubMed/38085718" } ] }, { "annotation": "The Emerging Roles of the Metabolic Regulator G6PD in Human Cancers. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000393" }, { "database": "PubMed", "id": "38139067", "url": "https://glygen.org/publication/PubMed/38139067" } ] }, { "annotation": "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, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000393" } ] } ], "disease": [ { "disease_id": "DOID:2861", "recommended_name": { "id": "DOID:2861", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2861", "name": "congenital nonspherocytic hemolytic anemia", "description": "" }, "synonyms": [ { "id": "DOID:2861", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2861", "name": "HNSHA", "description": "" }, { "id": "DOID:2861", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2861", "name": "congenital nonspherocytic hemolytic anaemia", "description": "" }, { "id": "DOID:2861", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2861", "name": "hereditary nonspherocytic hemolytic anaemia", "description": "" }, { "id": "DOID:2861", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2861", "name": "hereditary nonspherocytic hemolytic anemia", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "anemia, nonspherocytic hemolytic, due to G6PD deficiency", "description": "An X-linked genetic condition caused by alterations in the gene G6PD that result in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous G6PD variants associated with CNSHA have CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans." }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "Class I G6PD deficiency", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "anemia, nonspherocytic hemolytic, due to G6PD deficiency", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "class I glucose-6-phosphate dehydrogenase deficiency", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "hemolytic anaemia due to G6PD deficiency", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "hemolytic anemia due to G6PD deficiency", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "hemolytic anemia, G6PD deficient (favism), X-linked dominant", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "severe hemolytic anaemia due to G6PD deficiency", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "severe hemolytic anemia due to G6PD deficiency", "description": "" }, { "id": "MONDO:0008790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008790", "name": "anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism", "description": "" }, { "id": "MONDO:0008790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008790", "name": "anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism", "description": "" }, { "id": "MONDO:0008789", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008789", "name": "anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane", "description": "" }, { "id": "MONDO:0008789", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008789", "name": "anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane", "description": "" }, { "id": "MONDO:0013275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013275", "name": "hemolytic anemia due to glucophosphate isomerase deficiency", "description": "Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia." }, { "id": "MONDO:0013275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013275", "name": "glucosephosphate isomerase deficiency", "description": "" }, { "id": "MONDO:0013275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013275", "name": "hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency", "description": "" }, { "id": "MIM:300908", "resource": "MIM", "url": "https://www.omim.org/entry/300908", "name": "Anemia, non-spherocytic hemolytic, due to G6PD deficiency", "description": "Anemia, non-spherocytic hemolytic, due to G6PD deficiency" }, { "id": "MIM:613470", "resource": "MIM", "url": "https://www.omim.org/entry/613470", "name": "Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency", "description": "Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency" } ], "evidence": [ { "id": "300908", "database": "MIM", "url": "https://www.omim.org/entry/300908" } ] } ], "snv": [ { "evidence": [ { "id": "rs782177328", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782177328" }, { "id": "rs782177328", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782177328" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 107, "end_pos": 107, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSY->NSS).", "chr_id": "X", "chr_pos": "154535333", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y107", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs868963994", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868963994" }, { "id": "rs868963994", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs868963994" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 399, "end_pos": 399, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NEA->NET).", "chr_id": "X", "chr_pos": "154532659", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A399", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs141830127", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141830127" }, { "id": "rs141830127", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141830127" }, { "id": "rs141830127", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs141830127" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 84, "end_pos": 84, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->N).", "chr_id": "X", "chr_pos": "154535953", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S84", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1603411866", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1603411866" }, { "id": "rs1603411866", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1603411866" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 84, "end_pos": 84, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->R).", "chr_id": "X", "chr_pos": "154535952", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S84", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 171, "end_pos": 171, "sequence_org": "K", "sequence_mut": "Q", "comment": "Inhibits catalytic activity. Does not impair dimerization.", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" }, { "database": "PubMed", "id": "24769394", "url": "https://glygen.org/publication/PubMed/24769394" } ] }, { "start_pos": 171, "end_pos": 171, "sequence_org": "K", "sequence_mut": "R", "comment": "Inhibits catalytic activity. Does not impair dimerization.", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" }, { "database": "PubMed", "id": "24769394", "url": "https://glygen.org/publication/PubMed/24769394" } ] }, { "start_pos": 386, "end_pos": 386, "sequence_org": "K", "sequence_mut": "Q", "comment": "Impairs dimerization and reduces catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" }, { "database": "PubMed", "id": "24769394", "url": "https://glygen.org/publication/PubMed/24769394" } ] }, { "start_pos": 386, "end_pos": 386, "sequence_org": "K", "sequence_mut": "R", "comment": "Does not impair dimerization and catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" }, { "database": "PubMed", "id": "24769394", "url": "https://glygen.org/publication/PubMed/24769394" } ] }, { "start_pos": 403, "end_pos": 403, "sequence_org": "K", "sequence_mut": "Q", "comment": "Impairs dimerization and reduces catalytic activity in cells under oxidative stress.", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" }, { "database": "PubMed", "id": "24769394", "url": "https://glygen.org/publication/PubMed/24769394" } ] }, { "start_pos": 403, "end_pos": 403, "sequence_org": "K", "sequence_mut": "R", "comment": "Does not impair dimerization and catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" }, { "database": "PubMed", "id": "24769394", "url": "https://glygen.org/publication/PubMed/24769394" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "74.75", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160211" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "75.86", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160211" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "80.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160211" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "83.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160211" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "92.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160211" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "86.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160211" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "76.93", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160211" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "85.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160211" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "92.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160211" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "76.37", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160211" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "74.29", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160211" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "91.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160211" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "90.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160211" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P11413", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11413" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P11413", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11413" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11413" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"MAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYPTIWWLFRDGLLPENTFIVGYARSRLTVADIRKQSEPFFKATPEEKLKLEDFFARNSYVAGQYDDAASYQRLNSHMNALHLGSQANRLFYLALPPTVYEAVTKNIHESCMSQIGWNRIIVEKPFGRDLQSSDRLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFANRIFGPIWNRDNIACVILTFKEPFGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKPASTNSDDVRDEKVKVLKCISEVQANNVVLGQYVGNPDGEGEATKGYLDDPTVPRGSTTATFAAVVLYVENERWDGVPFILRCGKALNERKAEVRLQFHDVAGDIFHQQCKRNELVIRVQPNEAVYTKMMTKKPGMFFNPEESELDLTYGNRYKNVKLPDAYERLILDVFCGSQMHFVRSDELREAWRIFTPLLHQIELEKPKPIPYIYGSRGPTEADELMKRVGFQYEGTYKWVNPHKL", "length": 515, "header": "sp|P11413-1|G6PD_HUMAN Isoform 1 of Glucose-6-phosphate 1-dehydrogenase OS=Homo sapiens OX=9606 GN=G6PD PE=1 SV=4 CANONICAL=P11413-1" }, "isoforms": [ { "isoform_ac": "A0A8Q3SIN6-1", "url": "", "sequence": { "sequence": "MAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYPTIWWLFRDGLLPENTFIVGYARSRLTVADIRKQSEPFFKATPEEKLKLEDFFARNSYVAGQYDDAASYQRLNSHMNALHLGSQANRLFYLALPPTVYEAVTKNIHESCMSQIGWNRIIVEKPFGRDLQSSDRLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFANRIFGPIWNRDNIACVILTFKEPFGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKPASTNSDDVRDEKVKVLKCISEVQANNVVLGQYVGNPDGEGEATKGYLDDPTVPRGSTTATFAAVVLYVENERWDGVPFILRCGKALNERKAEVRLQFHDVAGDIFHQQCKRNELVIRVQPNEAVYTKMMTKKPGMFFNPEESELDLTYGNRYKNVKLPDAYERLILDVFCGSQMHFVRSDELREAWRIFTPLLHQIELEKPKPIPYIYGRCPSQL", "length": 491, "header": "tr|A0A8Q3SIN6-1|A0A8Q3SIN6_HUMAN Computationally mapped isoform of Glucose-6-phosphate 1-dehydrogenase OS=Homo sapiens OX=9606 GN=G6PD PE=1 SV=1 CANONICAL=P11413-1" }, "locus": { "chromosome": "X", "start_pos": 154546155, "end_pos": 154518281, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696420.1", "url": "https://www.ensembl.org/id/ENST00000696420.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512615.1", "url": "https://www.ensembl.org/id/ENSP00000512615.1" } ] } }, { "isoform_ac": "A0A8Q3SIS5-1", "url": "", "sequence": { "sequence": "MAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYPTIWWLFRDGLLPENTFIVGYARSRLTVADIRKQSEPFFKATPEEKLKLEDFFARNSYVAGQYDDAASYQRLNSHMNALHLGSQANRLFYLALPPTVYEAVTKNIHESCMSQIGWNRIIVEKPFGRDLQSSDRLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFANRIFGPIWNRDNIACVILTFKEPFGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKPASTNSDDVRDEKVKVLKCISEVQANNVVLGQYVGNPDGEGEATKGYLDDPTVPRGSTTATFAAVVLYVENERWDGVPFILRCGKALNERKAEVRLQFHDVAGDIFHQQCKRNELVIRVQPNEAVYTKMMTKKPGMFFNPEESELDLTYGNRYKNVKLPDAYERLILDVFCGSQMHFVRSDELREAWRIFTPLLHQIELEKPKPIPYIYGSFLLFPGLRRLDIPLTTALKGVLFAENSVSSAWQRLRPSIFVSIPYAFSPAGAPPSFKCMYTLDFSVFRTVLKNTWGVLLTESAETSAAGLPTPIL", "length": 581, "header": "tr|A0A8Q3SIS5-1|A0A8Q3SIS5_HUMAN Computationally mapped isoform of Glucose-6-phosphate 1-dehydrogenase OS=Homo sapiens OX=9606 GN=G6PD PE=1 SV=1 CANONICAL=P11413-1" }, "locus": { "chromosome": "X", "start_pos": 154546155, "end_pos": 154518163, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696421.1", "url": "https://www.ensembl.org/id/ENST00000696421.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512616.1", "url": "https://www.ensembl.org/id/ENSP00000512616.1" } ] } }, { "isoform_ac": "A0A8Q3SJB9-1", "url": "", "sequence": { "sequence": "XVTWPRRRSTPPSGGCSGMAFCPKTPSSWAMPVPASQWLTSANRATPEEKLKLEDFFARNSYVAGQYDDAASYQRLNSHMNALHLGSQANRLFYLALPPTVYEAVTKNIHESCMSQIGWNRIIVEKPFGRDLQSSDRLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFANRIFGPIWNRDNIACVILTFKEPFGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKPASTNSDDVRDEKVKVLKCISEVQANNVVLGQYVGNPDGEGEATKGYLDDPTVPRGSTTATFAAVVLYVENERWDGVPFILRCGKALNERKAEVRLQFHDVAGDIFHQQCKRNELVIRVQPNEAVYTKMMTKKPGMFFNPEESELDLTYGNRYKNVKLPDAYERLILDVFCGSQMHFVRSDELREAWRIFTPLLHQIELEKPKPIPYIYGSRGPTEADELMKRVGFQYEGTYKWVNPHKL", "length": 470, "header": "tr|A0A8Q3SJB9-1|A0A8Q3SJB9_HUMAN Computationally mapped isoform of Glucose-6-phosphate 1-dehydrogenase OS=Homo sapiens OX=9606 GN=G6PD PE=1 SV=1 CANONICAL=P11413-1" }, "locus": { "chromosome": "X", "start_pos": 154536178, "end_pos": 154532001, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696422.1", "url": "https://www.ensembl.org/id/ENST00000696422.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512617.1", "url": "https://www.ensembl.org/id/ENSP00000512617.1" } ] } }, { "isoform_ac": "A0A8Q3WL80-1", "url": "", "sequence": { "sequence": "MAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYPTIWWLFRDGLLPENTFIVGYARSRLTVADIRKQSEPFFKATPEEKLKLEDFFARNSYVAGQYDDAASYQRLNSHMNALHLGSQANRLFYLALPPTVYEAVTKNIHESCMSQIGWNRIIVEKPFGRDLQSSDRLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFANRIFGPIWNRDNIACVILTFKEPFGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKPASTNSDDVRDEKVGGQGVEMHLRGAGQQCGPGPVRGEPRWRGRGHQRVPGRPHGAPRVHHRHFCSRRPLCGE", "length": 348, "header": "tr|A0A8Q3WL80-1|A0A8Q3WL80_HUMAN Computationally mapped isoform of glucose-6-phosphate dehydrogenase (NADP(+)) OS=Homo sapiens OX=9606 GN=G6PD PE=1 SV=1 CANONICAL=P11413-1" }, "locus": { "chromosome": "X", "start_pos": 154546155, "end_pos": 154532956, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696427.1", "url": "https://www.ensembl.org/id/ENST00000696427.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512622.1", "url": "https://www.ensembl.org/id/ENSP00000512622.1" } ] } }, { "isoform_ac": "A0A8Q3WL83-1", "url": "", "sequence": { "sequence": "GDLAKKKIYPTIWWLFRDGLLPENTFIVGYARSRLTVADIRKQSEPFFKATPEEKLKLEDFFARNSYVAGQYDDAASYQRLNSHMNALHLGSQANRLFYLALPPTVYEAVTKNIHESCMSQIGWNRIIVEKPFGRDLQSSDRLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFANRIFGPIWNRDNIACVILTFKEPFGTEGRGGYFDEFGIIRCCVWWPWRSPPPPTQMTSVMRRSRC", "length": 242, "header": "tr|A0A8Q3WL83-1|A0A8Q3WL83_HUMAN Computationally mapped isoform of glucose-6-phosphate dehydrogenase (NADP(+)) OS=Homo sapiens OX=9606 GN=G6PD PE=1 SV=1 CANONICAL=P11413-1" }, "locus": { "chromosome": "X", "start_pos": 154536178, "end_pos": 154533119, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696424.1", "url": "https://www.ensembl.org/id/ENST00000696424.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512619.1", "url": "https://www.ensembl.org/id/ENSP00000512619.1" } ] } }, { "isoform_ac": "A0A8Q3WL90-1", "url": "", "sequence": { "sequence": "MAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYPTIWWLFRDGLLPENTFIVGYARSRLTVADIRKQSEPFFKATPEEKLKLEDFFARNSYVAGQYDDAASYQRLNSHMNALHLGSQANRL", "length": 137, "header": "tr|A0A8Q3WL90-1|A0A8Q3WL90_HUMAN Computationally mapped isoform of glucose-6-phosphate dehydrogenase (NADP(+)) OS=Homo sapiens OX=9606 GN=G6PD PE=1 SV=1 CANONICAL=P11413-1" }, "locus": { "chromosome": "X", "start_pos": 154546155, "end_pos": 154535242, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696431.1", "url": "https://www.ensembl.org/id/ENST00000696431.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512626.1", "url": "https://www.ensembl.org/id/ENSP00000512626.1" } ] } }, { "isoform_ac": "A0A8Q3WL93-1", "url": "", "sequence": { "sequence": "MAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYPTIWWLFRDGLLPENTFIVGYARSRLTVADIRKQSEPFFKATPEEKLKLEDFFARNSYVAGQYDDAASYQRLNSHMNALHLGSQANRLFYLALPPTVYEAVTKNIHESCMSQIGWNRIIVEKPFGRDLQSSDRLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFANRIFGPIWNRDNIACVILTFKEPFGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKPASTNSDDVRDEKGCPSSCAAARP", "length": 299, "header": "tr|A0A8Q3WL93-1|A0A8Q3WL93_HUMAN Computationally mapped isoform of glucose-6-phosphate dehydrogenase (NADP(+)) OS=Homo sapiens OX=9606 GN=G6PD PE=1 SV=1 CANONICAL=P11413-1" }, "locus": { "chromosome": "X", "start_pos": 154546155, "end_pos": 154532770, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696425.1", "url": "https://www.ensembl.org/id/ENST00000696425.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512620.1", "url": "https://www.ensembl.org/id/ENSP00000512620.1" } ] } }, { "isoform_ac": "A0A8Q3WL95-1", "url": "", "sequence": { "sequence": "XVTWPRRRSTPPSGGCSGMAFCPKTPSSWAMPVPASQWLTSANRATPEEKLKLEDFFARNSYVAGQYDDAASYQRLNSHMNALHLGSQANRLFYLALPPTVYEAVTKNIHESCMSQIRGWNRIIVEKPFGRDLQSSDRLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFANRIFGPIWNRDNIACVILTFKEPFGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKPASTNSDDVRDEKVKVLKCISEVQANNVVLGQYVGNPDGEGEATKGYLDDPTVPRGSTTATFAAVVLYVENERWDGVPFILRCGKALNERKAEVRLQFHDVAGDIFHQQCKRNELVIRVQPNEAVYTKMMTKKPGMFFNPEESELDLTYGNRYKNVKLPDAYERLILDVFCGSQMHFVRSDELREAWRIFTPLLHQIELEKPKPIPYIYGSRGPTEADELMKRVGFQYEGTYKWVNPHKL", "length": 471, "header": "tr|A0A8Q3WL95-1|A0A8Q3WL95_HUMAN Computationally mapped isoform of Glucose-6-phosphate 1-dehydrogenase OS=Homo sapiens OX=9606 GN=G6PD PE=1 SV=1 CANONICAL=P11413-1" }, "locus": { "chromosome": "X", "start_pos": 154536178, "end_pos": 154532001, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696423.1", "url": "https://www.ensembl.org/id/ENST00000696423.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512618.1", "url": "https://www.ensembl.org/id/ENSP00000512618.1" } ] } }, { "isoform_ac": "A0A8Q3WLB9-1", "url": "", "sequence": { "sequence": "MAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYPTIW", "length": 53, "header": "tr|A0A8Q3WLB9-1|A0A8Q3WLB9_HUMAN Computationally mapped isoform of Glucose-6-phosphate dehydrogenase OS=Homo sapiens OX=9606 GN=G6PD PE=1 SV=1 CANONICAL=P11413-1" }, "locus": { "chromosome": "X", "start_pos": 154546155, "end_pos": 154536140, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696428.1", "url": "https://www.ensembl.org/id/ENST00000696428.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512623.1", "url": "https://www.ensembl.org/id/ENSP00000512623.1" } ] } }, { "isoform_ac": "A0A8Q3WLT0-1", "url": "", "sequence": { "sequence": "MAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYPTIWWLFRDGLLPENTFIVGYARSRLTVADIRKQSEPFFKATPEEKLKLEDFFARNSYVAGQYDDAASYQRLNSHMNALHLGSQANRLFYLALPPTVYEAVTKNIHESCMSQIGWNRIIVEKPFGRDLQSSDRLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFANRIFGPIWNRDNIACVILTFKEPFGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKPASTNSDDVRDEKSRCPQPRRSHHL", "length": 300, "header": "tr|A0A8Q3WLT0-1|A0A8Q3WLT0_HUMAN Computationally mapped isoform of glucose-6-phosphate dehydrogenase (NADP(+)) OS=Homo sapiens OX=9606 GN=G6PD PE=1 SV=1 CANONICAL=P11413-1" }, "locus": { "chromosome": "X", "start_pos": 154546155, "end_pos": 154533456, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696426.1", "url": "https://www.ensembl.org/id/ENST00000696426.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512621.1", "url": "https://www.ensembl.org/id/ENSP00000512621.1" } ] } }, { "isoform_ac": "E7EM57-1", "url": "", "sequence": { "sequence": "MAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYPTIWWLFRDGLLPENTFIVGYARSRLTVADIRKQSEPFFKATPEEKLKLEDFFARNSYVAGQYDDAASYQRLNSHMNALHLGSQANRLFYLALPPTVYEAVTKNIHESCMSQIRGWNRIIVEKPFGRDLQSSDRLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFANRIFGPIWNRDNIACVILTFKEPFGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKPASTNSDDVRDEKVKVLKCISEVQANNVVLGQYVGNPDGEGEAT", "length": 320, "header": "tr|E7EM57-1|E7EM57_HUMAN Computationally mapped isoform of Glucose-6-phosphate 1-dehydrogenase OS=Homo sapiens OX=9606 GN=G6PD PE=1 SV=1 CANONICAL=P11413-1" }, "locus": { "chromosome": "X", "start_pos": 154546155, "end_pos": 154533036, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000440967.5", "url": "https://www.ensembl.org/id/ENST00000440967.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000400648.1", "url": "https://www.ensembl.org/id/ENSP00000400648.1" } ] } }, { "isoform_ac": "E7EUI8-1", "url": "", "sequence": { "sequence": "MAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYPTIWWLFRDGLLPENTFIVGYARSRLTVADIRKQSEPFFKATPEEKLKLEDFFARNSYVAGQYDDAASYQRLNSHMNALHLGSQANRLFYLALPPTVYEAVTKNIHESCMSQIRGWNRIIVEKPFGRDLQSSDRLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFANRIFGPIWNRDNIACVILTFKEPFGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKPASTNSDDVRDEKVKVLKCISEVQANNVVLGQYVGNPDGEGEATKGYLDDPTVPRGSTTATFAAVVLYVENERWDGVPFILRCGKALNERKAEVRLQFHDVAGDIFHQQCKRNELVIRVQPNEAVYTKMMTKKPGMFFNPEESELDLTYGNRYKNVKLPDAYERLILDVFCGSQMHFVRSDELREAWRIFTPLLHQIELEKPKPIPYIYGSRGPTEADELMKRVGFQYEGTYKWVNPHKL", "length": 516, "header": "tr|E7EUI8-1|E7EUI8_HUMAN Computationally mapped isoform of Glucose-6-phosphate 1-dehydrogenase OS=Homo sapiens OX=9606 GN=G6PD PE=1 SV=9 CANONICAL=P11413-1" }, "locus": { "chromosome": "X", "start_pos": 154546155, "end_pos": 154532003, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000439227.6", "url": "https://www.ensembl.org/id/ENST00000439227.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000395599.2", "url": "https://www.ensembl.org/id/ENSP00000395599.2" } ] } }, { "isoform_ac": "E9PD92-1", "url": "", "sequence": { "sequence": "MAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYPTIWWLFRDGLLPENTFIVGYARSRLTVADIRKQSEPFFKATPEEKLKLEDFFARNSYVAGQYDDAASYQRLNSHMNALHLGSQANRLFYLALPPTVYEAVTKNIHESCMSQIGWNRIIVEKPFGRDLQSSDRLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFANRIFGPIWNRDNIACVILTFKEPFGTEGRGGYFDEFGII", "length": 256, "header": "tr|E9PD92-1|E9PD92_HUMAN Computationally mapped isoform of glucose-6-phosphate dehydrogenase (NADP(+)) OS=Homo sapiens OX=9606 GN=G6PD PE=1 SV=1 CANONICAL=P11413-1" }, "locus": { "chromosome": "X", "start_pos": 154546155, "end_pos": 154534037, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000433845.1", "url": "https://www.ensembl.org/id/ENST00000433845.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000394690.1", "url": "https://www.ensembl.org/id/ENSP00000394690.1" } ] } }, { "isoform_ac": "P11413-1", "url": "", "sequence": { "sequence": "MAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYPTIWWLFRDGLLPENTFIVGYARSRLTVADIRKQSEPFFKATPEEKLKLEDFFARNSYVAGQYDDAASYQRLNSHMNALHLGSQANRLFYLALPPTVYEAVTKNIHESCMSQIGWNRIIVEKPFGRDLQSSDRLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFANRIFGPIWNRDNIACVILTFKEPFGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKPASTNSDDVRDEKVKVLKCISEVQANNVVLGQYVGNPDGEGEATKGYLDDPTVPRGSTTATFAAVVLYVENERWDGVPFILRCGKALNERKAEVRLQFHDVAGDIFHQQCKRNELVIRVQPNEAVYTKMMTKKPGMFFNPEESELDLTYGNRYKNVKLPDAYERLILDVFCGSQMHFVRSDELREAWRIFTPLLHQIELEKPKPIPYIYGSRGPTEADELMKRVGFQYEGTYKWVNPHKL", "length": 515, "header": "sp|P11413-1|G6PD_HUMAN Isoform 1 of Glucose-6-phosphate 1-dehydrogenase OS=Homo sapiens OX=9606 GN=G6PD PE=1 SV=4 CANONICAL=P11413-1" }, "locus": { "chromosome": "X", "start_pos": 154546155, "end_pos": 154532003, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000393564.7", "url": "https://www.ensembl.org/id/ENST00000393564.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000377194.2", "url": "https://www.ensembl.org/id/ENSP00000377194.2" } ] } }, { "isoform_ac": "P11413-2", "url": "", "sequence": { "sequence": "MAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYPTIWWLFRDGLLPENTFIVGYARSRLTVADIRKQSEPFFKATPEEKLKLEDFFARNSYVAGQYDDAASYQRLNSHMNALHLGSQANRLFYLALPPTVYEAVTKNIHESCMSQIGWNRIIVEKPFGRDLQSSDRLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFANRIFGPIWNRDNIACVILTFKEPFGTEGRGGYFDEFGIIRGPGRQGGSGSESCSLSLGSLVWGPHALEPGEQGGELRRALASSVPRDVMQNHLLQMLCLVAMEKPASTNSDDVRDEKVKVLKCISEVQANNVVLGQYVGNPDGEGEATKGYLDDPTVPRGSTTATFAAVVLYVENERWDGVPFILRCGKALNERKAEVRLQFHDVAGDIFHQQCKRNELVIRVQPNEAVYTKMMTKKPGMFFNPEESELDLTYGNRYKNVKLPDAYERLILDVFCGSQMHFVRSDELREAWRIFTPLLHQIELEKPKPIPYIYGSRGPTEADELMKRVGFQYEGTYKWVNPHKL", "length": 561, "header": "sp|P11413-2|G6PD_HUMAN Isoform 2 of Glucose-6-phosphate 1-dehydrogenase OS=Homo sapiens OX=9606 GN=G6PD PE=1 SV=4 CANONICAL=P11413-1" }, "locus": { "chromosome": "X", "start_pos": 154546155, "end_pos": 154532003, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000369620.6", "url": "https://www.ensembl.org/id/ENST00000369620.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000358633.2", "url": "https://www.ensembl.org/id/ENSP00000358633.2" } ] } }, { "isoform_ac": "P11413-3", "url": "", "sequence": { "sequence": "MGRRGSAPGNGRTLRGCERGGRRRRSADSVMAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYPTIWWLFRDGLLPENTFIVGYARSRLTVADIRKQSEPFFKATPEEKLKLEDFFARNSYVAGQYDDAASYQRLNSHMNALHLGSQANRLFYLALPPTVYEAVTKNIHESCMSQIGWNRIIVEKPFGRDLQSSDRLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFANRIFGPIWNRDNIACVILTFKEPFGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKPASTNSDDVRDEKVKVLKCISEVQANNVVLGQYVGNPDGEGEATKGYLDDPTVPRGSTTATFAAVVLYVENERWDGVPFILRCGKALNERKAEVRLQFHDVAGDIFHQQCKRNELVIRVQPNEAVYTKMMTKKPGMFFNPEESELDLTYGNRYKNVKLPDAYERLILDVFCGSQMHFVRSDELREAWRIFTPLLHQIELEKPKPIPYIYGSRGPTEADELMKRVGFQYEGTYKWVNPHKL", "length": 545, "header": "sp|P11413-3|G6PD_HUMAN Isoform 3 of Glucose-6-phosphate 1-dehydrogenase OS=Homo sapiens OX=9606 GN=G6PD PE=1 SV=4 CANONICAL=P11413-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 84, "start_aa": "Ser", "end_pos": 84, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser84", "evidence": [ { "id": "P11413", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11413" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "16408927", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16408927" }, { "id": "26399441", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26399441" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "35008409", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35008409" }, { "id": "18369606", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18369606" }, { "id": "26853435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26853435" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "P11413", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P11413" } ] } ], "phosphorylation": [ { "start_pos": 10, "end_pos": 10, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P11413", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11413" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr10" }, { "start_pos": 123, "end_pos": 123, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11413", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11413" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser123" }, { "start_pos": 180, "end_pos": 180, "kinase_uniprot_canonical_ac": "Q05655-1", "kinase_gene_name": "PRKCD", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11413", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11413" }, { "database": "PubMed", "id": "20649491", "url": "https://glygen.org/publication/PubMed/20649491" } ], "site_lbl": "Ser180" }, { "start_pos": 236, "end_pos": 236, "kinase_uniprot_canonical_ac": "Q05655-1", "kinase_gene_name": "PRKCD", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11413", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11413" }, { "database": "PubMed", "id": "20649491", "url": "https://glygen.org/publication/PubMed/20649491" } ], "site_lbl": "Thr236" }, { "start_pos": 26, "end_pos": 26, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Phe", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" }, { "database": "iPTMnet", "id": "P11413", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11413" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Phe26" }, { "start_pos": 296, "end_pos": 296, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11413", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11413" }, { "database": "PubMed", "id": "29138396", "url": "https://glygen.org/publication/PubMed/29138396" } ], "site_lbl": "Ser296" }, { "start_pos": 401, "end_pos": 401, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11413", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11413" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "P11413", "url": "http://phospho.elm.eu.org/byAccession/P11413.html" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "PubMed", "id": "32863204", "url": "https://glygen.org/publication/PubMed/32863204" } ], "site_lbl": "Tyr401" }, { "start_pos": 406, "end_pos": 406, "kinase_uniprot_canonical_ac": "P53350-1", "kinase_gene_name": "PLK1", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11413", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11413" }, { "database": "PubMed", "id": "29138396", "url": "https://glygen.org/publication/PubMed/29138396" } ], "site_lbl": "Thr406" }, { "start_pos": 406, "end_pos": 406, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11413", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11413" }, { "database": "PubMed", "id": "29138396", "url": "https://glygen.org/publication/PubMed/29138396" } ], "site_lbl": "Thr406" }, { "start_pos": 466, "end_pos": 466, "kinase_uniprot_canonical_ac": "P53350-1", "kinase_gene_name": "PLK1", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11413", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11413" }, { "database": "PubMed", "id": "29138396", "url": "https://glygen.org/publication/PubMed/29138396" } ], "site_lbl": "Thr466" }, { "start_pos": 466, "end_pos": 466, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11413", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11413" }, { "database": "PubMed", "id": "29138396", "url": "https://glygen.org/publication/PubMed/29138396" } ], "site_lbl": "Thr466" }, { "start_pos": 503, "end_pos": 503, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P11413", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11413" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "phospho.ELM", "id": "P11413", "url": "http://phospho.elm.eu.org/byAccession/P11413.html" } ], "site_lbl": "Tyr503" }, { "start_pos": 507, "end_pos": 507, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11413", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11413" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "phospho.ELM", "id": "P11413", "url": "http://phospho.elm.eu.org/byAccession/P11413.html" }, { "database": "PubMed", "id": "15951569", "url": "https://glygen.org/publication/PubMed/15951569" } ], "site_lbl": "Tyr507" }, { "start_pos": 8, "end_pos": 8, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P11413", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11413" } ], "site_lbl": "Ser8" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Importance of glucose-6-phosphate dehydrogenase activity in cell death.", "journal": "The American journal of physiology", "date": "1999", "authors": "Tian WN, Braunstein LD, Apse K, Pang J, Rose M, Tian X, Stanton RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "10329961", "url": "https://glygen.org/publication/PubMed/10329961" } ] }, { "title": "Identification of the cDNA encoding human 6-phosphogluconolactonase, the enzyme catalyzing the second step of the pentose phosphate pathway(1).", "journal": "FEBS letters", "date": "1999", "authors": "Collard F, Collet JF, Gerin I, Veiga-da-Cunha M, Van Schaftingen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-71336", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71336" } ], "reference": [ { "type": "PubMed", "id": "10518023", "url": "https://glygen.org/publication/PubMed/10518023" } ] }, { "title": "A new glucose 6 phosphate dehydrogenase variant G6PD Sinnai (34 G-->T). Mutations in brief no. 156. Online.", "journal": "Human mutation", "date": "1998", "authors": "Galanello R, Loi D, Sollaino C, Dessi S, Cao A, Melis MA", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "reference": [ { "type": "PubMed", "id": "10627140", "url": "https://glygen.org/publication/PubMed/10627140" } ] }, { "title": "A ribonucleotide reductase gene involved in a p53-dependent cell-cycle checkpoint for DNA damage.", "journal": "Nature", "date": "2000", "authors": "Tanaka H, Arakawa H, Yamaguchi T, Shiraishi K, Fukuda S, Matsui K, Takei Y, Nakamura Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "10716435", "url": "https://glygen.org/publication/PubMed/10716435" } ] }, { "title": "Human glucose-6-phosphate dehydrogenase: the crystal structure reveals a structural NADP(+) molecule and provides insights into enzyme deficiency.", "journal": "Structure", "date": "2000", "authors": "Au SW, Gover S, Lam VM, Adams MJ", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" }, { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "10745013", "url": "https://glygen.org/publication/PubMed/10745013" } ] }, { "title": "The three-dimensional structure of human transaldolase.", "journal": "FEBS letters", "date": "2000", "authors": "Thorell S, Gergely P Jr, Banki K, Perl A, Schneider G", "evidence": [ { "database": "Reactome", "id": "R-HSA-71336", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71336" } ], "reference": [ { "type": "PubMed", "id": "10869557", "url": "https://glygen.org/publication/PubMed/10869557" } ] }, { "title": "A ribonucleotide reductase gene is a transcriptional target of p53 and p73.", "journal": "Oncogene", "date": "2000", "authors": "Nakano K, Balint E, Ashcroft M, Vousden KH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "10980602", "url": "https://glygen.org/publication/PubMed/10980602" } ] }, { "title": "Overexpression of fructose 2,6-bisphosphatase decreases glycolysis and delays cell cycle progression.", "journal": "American journal of physiology. Cell physiology", "date": "2000", "authors": "Perez JX, Roig T, Manzano A, Dalmau M, Boada J, Ventura F, Rosa JL, Bermudez J, Bartrons R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "11029283", "url": "https://glygen.org/publication/PubMed/11029283" } ] }, { "title": "Cells overexpressing fructose-2,6-bisphosphatase showed enhanced pentose phosphate pathway flux and resistance to oxidative stress.", "journal": "FEBS letters", "date": "2000", "authors": "Boada J, Roig T, Perez X, Gamez A, Bartrons R, Cascante M, Bermudez J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "11034341", "url": "https://glygen.org/publication/PubMed/11034341" } ] }, { "title": "A new exon 9 glucose-6-phosphate dehydrogenase mutation (G6PD `Rehovot`) in a Jewish Ethiopian family with variable phenotypes.", "journal": "Blood cells, molecules & diseases", "date": "2000", "authors": "Iancovici-Kidon M, Sthoeger D, Abrahamov A, Wolach B, Beutler E, Gelbart T, Barak Y", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "reference": [ { "type": "PubMed", "id": "11112389", "url": "https://glygen.org/publication/PubMed/11112389" } ] }, { "title": "Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway.", "journal": "American journal of human genetics", "date": "2001", "authors": "Verhoeven NM, Huck JH, Roos B, Struys EA, Salomons GS, Douwes AC, van der Knaap MS, Jakobs C", "evidence": [ { "database": "Reactome", "id": "R-HSA-71336", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71336" } ], "reference": [ { "type": "PubMed", "id": "11283793", "url": "https://glygen.org/publication/PubMed/11283793" } ] }, { "title": "Structures and proton-pumping strategies of mitochondrial respiratory enzymes.", "journal": "Annual review of biophysics and biomolecular structure", "date": "2001", "authors": "Schultz BE, Chan SI", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "11340051", "url": "https://glygen.org/publication/PubMed/11340051" } ] }, { "title": "Growth factors can influence cell growth and survival through effects on glucose metabolism.", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Vander Heiden MG, Plas DR, Rathmell JC, Fox CJ, Harris MH, Thompson CB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "11486029", "url": "https://glygen.org/publication/PubMed/11486029" } ] }, { "title": "Regulation of PTEN transcription by p53.", "journal": "Molecular cell", "date": "2001", "authors": "Stambolic V, MacPherson D, Sas D, Lin Y, Snow B, Jang Y, Benchimol S, Mak TW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "11545734", "url": "https://glygen.org/publication/PubMed/11545734" } ] }, { "title": "G6PDdb, an integrated database of glucose-6-phosphate dehydrogenase (G6PD) mutations.", "journal": "Hum. 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Mutat.", "date": "1993", "authors": "Vulliamy T, Beutler E, Luzzatto L", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "reference": [ { "type": "PubMed", "id": "8364584", "url": "https://glygen.org/publication/PubMed/8364584" } ] }, { "title": "5' structure and expression of human glucose-6-phosphate dehydrogenase mRNA.", "journal": "DNA Cell Biol.", "date": "1993", "authors": "Kanno H, Kondoh T, Yoshida A", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "reference": [ { "type": "PubMed", "id": "8466644", "url": "https://glygen.org/publication/PubMed/8466644" } ] }, { "title": "G6PD Aures: a new mutation (48 Ile-->Thr) causing mild G6PD deficiency is associated with favism.", "journal": "Human molecular genetics", "date": "1993", "authors": "Nafa K, Reghis A, Osmani N, Baghli L, Benabadji M, Kaplan JC, Vulliamy TJ, Luzzatto L", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "reference": [ { "type": "PubMed", "id": "8490627", "url": "https://glygen.org/publication/PubMed/8490627" } ] }, { "title": "A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala-->Gly), is the major polymorphic variant in tribal populations in India.", "journal": "American journal of human genetics", "date": "1995", "authors": "Kaeda JS, Chhotray GP, Ranjit MR, Bautista JM, Reddy PH, Stevens D, Naidu JM, Britt RP, Vulliamy TJ, Luzzatto L, et al.", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "reference": [ { "type": "PubMed", "id": "8533762", "url": "https://glygen.org/publication/PubMed/8533762" } ] }, { "title": "Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci.", "journal": "Human molecular genetics", "date": "1996", "authors": "Chen EY, Zollo M, Mazzarella R, Ciccodicola A, Chen CN, Zuo L, Heiner C, Burough F, Repetto M, Schlessinger D, D'Urso M", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "reference": [ { "type": "PubMed", "id": "8733135", "url": "https://glygen.org/publication/PubMed/8733135" } ] }, { "title": "Aspartate 155 of human transketolase is essential for thiamine diphosphate-magnesium binding, and cofactor binding is required for dimer formation.", "journal": "Biochimica et biophysica acta", "date": "1997", "authors": "Wang JJ, Martin PR, Singleton CK", "evidence": [ { "database": "Reactome", "id": "R-HSA-71336", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71336" } ], "reference": [ { "type": "PubMed", "id": "9357955", "url": "https://glygen.org/publication/PubMed/9357955" } ] }, { "title": "G6PD Mount Sinai: a new severe hemolytic variant characterized by dual mutations at nucleotides 376G and 1159T (N126D).", "journal": "Human mutation", "date": "1998", "authors": "Vlachos A, Westwood B, Lipton JM, Beutler E", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "reference": [ { "type": "PubMed", "id": "9452072", "url": "https://glygen.org/publication/PubMed/9452072" } ] }, { "title": "6-Phosphogluconate dehydrogenase: the mechanism of action investigated by a comparison of the enzyme from different species.", "journal": "Biochimica et biophysica acta", "date": "1998", "authors": "Rippa M, Giovannini PP, Barrett MP, Dallocchio F, Hanau S", "evidence": [ { "database": "Reactome", "id": "R-HSA-71336", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71336" } ], "reference": [ { "type": "PubMed", "id": "9920387", "url": "https://glygen.org/publication/PubMed/9920387" } ] }, { "title": "PA26, a novel target of the p53 tumor suppressor and member of the GADD family of DNA damage and growth arrest inducible genes.", "journal": "Oncogene", "date": "1999", "authors": "Velasco-Miguel S, Buckbinder L, Jean P, Gelbert L, Talbott R, Laidlaw J, Seizinger B, Kley N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "9926927", "url": "https://glygen.org/publication/PubMed/9926927" } ] } ], "pathway": [ { "id": "hsa:2539", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2539", "resource": "KEGG Pathway" }, { "id": "R-HSA-5628897", "name": "TP53 Regulates Metabolic Genes", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897", "resource": "Reactome", "description": "TP53 Regulates Metabolic Genes" }, { "id": "R-HSA-71336", "name": "Pentose phosphate pathway", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71336", "resource": "Reactome", "description": "Pentose phosphate pathway" }, { "id": "R-HSA-9818028", "name": "NFE2L2 regulates pentose phosphate pathway 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"MSEGPVKFEKNTVISVFGASGDLAKKKTFPALFGLFREGYLDPSTKIFGYARSKLSMEEDLKSRVLPHLKKPHGEADDSKVEQFFKMVSYISGNYDTDEGFDELRTQIEKFEKSANVDVPHRLFYLALPPSVFLTVAKQIKSRVYAENGITRVIVEKPFGHDLASARELQKNLGPLFKEEELYRIDHYLGKELVKNLLVLRFGNQFLNASWNRDNIQSVQISFKERFGTEGRGGYFDSIGIIRDVMQNHLLQIMTLLTMERPVSFDPESIRDEKVKVLKAVAPIDTDDVLLGQYGKSEDGSKPAYVDDDTVDKDSKCVTFAAMTFNIENERWEGVPIMMRAGKALNESKVEIRLQYKAVASGVFKDIPNNELVIRVQPDAAVYLKFNAKTPGLSNATQVTDLNLTYASRYQDFWIPEAYEVLIRDALLGDHSNFVRDDELDISWGIFTPLLKHIERPDGPTPEIYPYGSRGPKGLKEYMQKHKYVMPEKHPYAWPVTKPEDTKDN", "length": 505 }, "evidence": [ { "id": "P11413", "url": "https://omabrowser.org/oma/group/P11413/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "P97324-1", "protein_name": "Glucose-6-phosphate 1-dehydrogenase 2", "gene_name": "G6pd2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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"MAEQVALSRTQVCGILREELYQGDAFHQADTHIFIIMGASGDLAKKKIYPTIWWLFRDGLLPEDTFIVGYARSRLTVDDIRKQSEPFFKATPEERPKLEEFFARNSYVAGQYDDAASYKHLNSHMNALHQGMQANRLFYLALPPTVYEAVTKNIQETCMSQTGWNRIIVEKPFGRDLQSSNQLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFANRIFGPIWNRDNIACVILTFKEPFGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKPATTGSDDVRDEKVKVLKCISEVETDNVVLGQYVGNPNGEGEAANGYLDDPTVPHGSTTATFAAAVLYVENERWDGVPFILRCGKALNERKAEVRLQFRDVAGDIFHQQCKRNELVIRVQPNEAVYTKMMTKKPGMFFNPEESELDLTYGNRYKNVKLPDAYERLILDVFCGSQMHFVRSDELREAWRIFTPLLHKIDREKPQPIPYVYGSRGPTEADELMKRVGFQYEGTYKWVNPHKL", "length": 515 }, "evidence": [ { "id": "45921543", "url": "http://www.informatics.jax.org/homology/45921543", "database": "MGI" }, { "id": "P11413", "url": "https://omabrowser.org/oma/group/P11413/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 23, "go_terms": [ { "name": "pentose-phosphate shunt", "id": "GO:0006098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006098", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "negative regulation of cell growth involved in cardiac muscle cell development", "id": "GO:0061052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061052", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "NADP metabolic process", "id": "GO:0006739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006739", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "erythrocyte maturation", "id": "GO:0043249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043249", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "response to organic cyclic compound", "id": "GO:0014070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014070", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "substantia nigra development", "id": "GO:0021762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021762", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "response to food", "id": "GO:0032094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032094", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "cholesterol biosynthetic process", "id": "GO:0006695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006695", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "pentose-phosphate shunt, oxidative branch", "id": "GO:0009051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009051", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "negative regulation of reactive oxygen species metabolic process", "id": "GO:2000378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000378", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "pentose biosynthetic process", "id": "GO:0019322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019322", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "regulation of neuron apoptotic process", "id": "GO:0043523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043523", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "response to iron(III) ion", "id": "GO:0010041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010041", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel", "id": "GO:1904879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904879", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "NADPH regeneration", "id": "GO:0006740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006740", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "negative regulation of protein glutathionylation", "id": "GO:0010734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010734", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "ribose phosphate biosynthetic process", "id": "GO:0046390", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046390", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "glucose 6-phosphate metabolic process", "id": "GO:0051156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051156", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "glutathione metabolic process", "id": "GO:0006749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006749", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "glucose-6-phosphate dehydrogenase activity", "id": "GO:0004345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004345", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "NADP binding", "id": "GO:0050661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050661", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "glucose binding", "id": "GO:0005536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005536", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on CH-OH group of donors", "id": "GO:0016614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016614", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [ { "annotation": "Acetylated by ELP3 at Lys-403; acetylation inhibits its homodimerization and enzyme activity. Deacetylated by SIRT2 at Lys-403; deacetylation stimulates its enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "P11413", "url": "https://www.uniprot.org/uniprot/P11413" }, { "database": "PubMed", "id": "24769394", "url": "https://glygen.org/publication/PubMed/24769394" }, { "database": "PubMed", "id": "7857286", "url": "https://glygen.org/publication/PubMed/7857286" } ] } ], "interactions": [], "reactions": [ { "id": "15841", "name": "", "equation": "D-glucose 6-phosphate + NADP(+) = 6-phospho-D-glucono-1,5-lactone + H(+) + NADPH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P05370-1", "P11413-1", "O95479-1", "Q8CFX1-1", "P97324-1", "Q00612-1", "P11412-1", "Q557D2-1", "P12646-1", "Q9VNW4-1" ], "evidence": [ { "id": "15841", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/15841" } ] }, { "id": "R-HSA-70377", "name": "alpha-D-glucose 6-phosphate + NADP+ => D-glucono-1,5-lactone 6-phosphate + NADPH + H+", "equation": "", "summary": "Cytosolic glucose-6-phosphate dehydrogenase (G6PD) catalyzes the reaction of glucose 6-phosphate and NADP+ to form D-glucono-1,5-lactone 6-phosphate and NADPH + H+. This constitutes the first committed step of the pentose phosphate pathway and it is critical to the maintenance of NAPDH pool and redox homeostasis. For this reason, anti-cancer therapies are making this step as a prominent target in cancer therapy (Zhang et al. 2014). The reaction is inhibited by high ADP/AMP concentration, and by high NAPDH concentration. Biochemical studies indicate that both G6PD dimers and tetramers are catalytically active and present under physiological conditions in vivo (Au et al. 2000). Mutations that reduce the catalytic efficiency of G6PD are remarkably common in human populations; these appear to have a protective effect against malaria (e.g., Luzzatto and Afolayan 1968).", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-29366" ], "output_participant_list": [ "R-ALL-31467" ], "enzyme_list": [ "P11413-1" ], "evidence": [ { "id": "R-HSA-70377", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70377" } ] }, { "id": "R-HSA-9761849", "name": "AcK-NFE2L2-dependent P6GD gene expression", "equation": "", "summary": "Glucose-6-phosphate dehydrogenase (G6PD) catalyzes the first, rate limiting step of the pentose phosphate pathway (PPP). The PPP is an alternate glucose metabolic pathway that shares intermediates with glycolysis. PPP generates NADPH through its oxidative and non-oxidative branches, as well as biosynthetic intermediates required for the generation of nucleic acids, sterols, fatty acids and amino acids. Cells can switch to the PPP pathway in place of glycolysis and oxidative phosphorylation in times of high biosynthetic need, like proliferation, and also in response to oxidative stress, as the NADPH generated contributes to the redox potential of the cell (reviewed in Ge et al, 2020; Hayes et al, 2020; Baird and Yamamoto, 2020).
G6PD expression is regulated downstream of the KEAP1-NFE2L2 pathway and depends on the binding of an NFE2L2:MAFG heterodimer to the antioxidant response element in the promoter (Hirotsu et al, 2012; Mitsuishi et al, 2012; Thimmulappa et al, 2002; Wu et al, 2011; reviewed in Baird and Yamamoto, 2020; Ge et al, 2020).", "cellular_location": "cytosol, nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q09472-1", "Q92793-1", "P11413-1" ], "evidence": [ { "id": "R-HSA-9761849", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9761849" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-29366", "participant_name": "NADP+ [cytosol]", "crossref": [ { "id": "C00006", "database": "COMPOUND", "url": "" }, { "id": "58349", "database": "ChEBI", "url": "" }, { "id": "000008214733", "database": "ZINC", "url": "" }, { "id": "58349", "database": "ChEBI", "url": "" }, { "id": "000008214733", "database": "ZINC", "url": "" }, { "id": "C00006", "database": "COMPOUND", "url": "" }, { "id": "C00006", "database": "COMPOUND", "url": "" }, { "id": "58349", "database": "ChEBI", "url": "" }, { "id": "000008214733", "database": "ZINC", "url": "" }, { "id": "C00006", "database": "COMPOUND", "url": "" }, { "id": "58349", "database": "ChEBI", "url": "" }, { "id": "000008214733", "database": "ZINC", "url": "" }, { "id": "C00006", "database": "COMPOUND", "url": "" }, { "id": "58349", "database": "ChEBI", "url": "" }, { "id": "000008214733", "database": "ZINC", "url": "" }, { "id": "C00006", "database": "COMPOUND", "url": "" }, { "id": "58349", "database": "ChEBI", "url": "" }, { "id": "000008214733", "database": "ZINC", "url": "" }, { "id": "C00006", "database": "COMPOUND", "url": "" }, { "id": "58349", "database": "ChEBI", "url": "" }, { "id": "000008214733", "database": "ZINC", "url": "" } ] }, { "participant_id": "R-ALL-31467", "participant_name": "D-Glucono-1,5-lactone 6-phosphate [cytosol]", "crossref": [ { "id": 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"url": "" }, { "id": "000004095593", "database": "ZINC", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O95479", "gene_name": "H6PD", "activity": [ { "ec_number": "3.1.1.31", "activity": "6-phospho-D-glucono-1,5-lactone + H2O = 6-phospho-D-gluconate + H(+).", "evidence": [ { "id": "O95479", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95479" } ] }, { "ec_number": "1.1.1.47", "activity": "D-glucose + NADP(+) = D-glucono-1,5-lactone + H(+) + NADPH.", "evidence": [ { "id": "O95479", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95479" } ] }, { "ec_number": "1.1.1.363", "activity": "D-glucose 6-phosphate + NAD(+) = 6-phospho-D-glucono-1,5-lactone + H(+) + NADH.", "evidence": [ { "id": "O95479", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95479" } ] } ] }, { "uniprot_ac": "P05370", "gene_name": "G6pdx", "activity": [ { "ec_number": "1.1.1.49", "activity": "D-glucose 6-phosphate + NADP(+) = 6-phospho-D-glucono-1,5-lactone + H(+) + NADPH.", "evidence": [ { "id": "P05370", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05370" } ] }, { "ec_number": "1.1.1.49", "activity": "", "evidence": [ { "id": "P05370", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05370" } ] } ] }, { "uniprot_ac": "P11412", "gene_name": "ZWF1", "activity": [ { "ec_number": "1.1.1.49", "activity": "D-glucose 6-phosphate + NADP(+) = 6-phospho-D-glucono-1,5-lactone + H(+) + NADPH.", "evidence": [ { "id": "P11412", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11412" } ] }, { "ec_number": "1.1.1.49", "activity": "", "evidence": [ { "id": "P11412", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11412" } ] } ] }, { "uniprot_ac": "P11413", "gene_name": "G6PD", "activity": [ { "ec_number": "1.1.1.49", "activity": "D-glucose 6-phosphate + NADP(+) = 6-phospho-D-glucono-1,5-lactone + H(+) + NADPH.", "evidence": [ { "id": "P11413", 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"ec_number": "1.1.1.49", "activity": "", "evidence": [ { "id": "P97324", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P97324" } ] } ] }, { "uniprot_ac": "Q00612", "gene_name": "G6pdx", "activity": [ { "ec_number": "1.1.1.49", "activity": "D-glucose 6-phosphate + NADP(+) = 6-phospho-D-glucono-1,5-lactone + H(+) + NADPH.", "evidence": [ { "id": "Q00612", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q00612" } ] }, { "ec_number": "1.1.1.49", "activity": "", "evidence": [ { "id": "Q00612", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q00612" } ] } ] }, { "uniprot_ac": "Q09472", "gene_name": "EP300", "activity": [ { "ec_number": "2.3.1.48", "activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].", "evidence": [ { "id": "Q09472", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q09472" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q09472", "database": 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