{ "uniprot_canonical_ac": "P08294-1", "uniprot_ac": "P08294", "uniprot_id": "SODE_HUMAN", "mass": { "chemical_mass": 25851.0, "monoisotopic_mass": 25851.0 }, "refseq": { "ac": "NP_003093", "name": "extracellular superoxide dismutase [Cu-Zn] preproprotein", "summary": "This gene encodes a member of the superoxide dismutase (SOD) protein family. SODs are antioxidant enzymes that catalyze the conversion of superoxide radicals into hydrogen peroxide and oxygen, which may protect the brain, lungs, and other tissues from oxidative stress. Proteolytic processing of the encoded protein results in the formation of two distinct homotetramers that differ in their ability to interact with the extracellular matrix (ECM). Homotetramers consisting of the intact protein, or type C subunit, exhibit high affinity for heparin and are anchored to the ECM. Homotetramers consisting of a proteolytically cleaved form of the protein, or type A subunit, exhibit low affinity for heparin and do not interact with the ECM. A mutation in this gene may be associated with increased heart disease risk. [provided by RefSeq, Oct 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003093" }, "gene_names": [ { "name": "SOD3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P08294", "id": "P08294" }, { "name": "EC-SOD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003093", "id": "NP_003093" }, { "name": "SOD3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003093", "id": "NP_003093" } ], "protein_names": [ { "name": "Extracellular superoxide dismutase [Cu-Zn]", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P08294" }, { "name": "1.15.1.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08294" }, { "name": "EC-SOD", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08294" }, { "name": "extracellular superoxide dismutase [Cu-Zn] preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003093", "id": "NP_003093" }, { "name": "testicular tissue protein Li 175; superoxide dismutase 3, extracellular", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003093", "id": "NP_003093" } ], "function": [ { "annotation": "Chromosome mapping of SOD3 to chromosome band 4p15.3-->p15.1.", "evidence": [ { "database": "RefSeq", "id": "NP_003093", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003093" }, { "database": "PubMed", "id": "14619883", "url": "https://glygen.org/publication/PubMed/14619883" } ] }, { "annotation": "Combined action of FOXO1 and superoxide dismutase 3 promotes MDA-MB-231 cell migration.", "evidence": [ { "database": "RefSeq", "id": "NP_003093", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003093" }, { "database": "PubMed", "id": "35271779", "url": "https://glygen.org/publication/PubMed/35271779" } ] }, { "annotation": "Core Fucosylation Is Required for the Secretion of and the Enzymatic Activity of SOD3 in Nonsmall-Cell Lung Cancer Cells.", "evidence": [ { "database": "RefSeq", "id": "NP_003093", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003093" }, { "database": "PubMed", "id": "36606688", "url": "https://glygen.org/publication/PubMed/36606688" } ] }, { "annotation": "Decreased Expression of EC-SOD and Fibulin-5 in Alveolar Walls of Lungs From COPD Patients.", "evidence": [ { "database": "RefSeq", "id": "NP_003093", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003093" }, { "database": "PubMed", "id": "35312591", "url": "https://glygen.org/publication/PubMed/35312591" } ] }, { "annotation": "Protect the extracellular space from toxic effect of reactive oxygen intermediates by converting superoxide radicals into hydrogen peroxide and oxygen.", "evidence": [ { "database": "UniProtKB", "id": "P08294", "url": "https://www.uniprot.org/uniprot/P08294#function" } ] }, { "annotation": "This gene encodes a member of the superoxide dismutase (SOD) protein family. SODs are antioxidant enzymes that catalyze the conversion of superoxide radicals into hydrogen peroxide and oxygen, which may protect the brain, lungs, and other tissues from oxidative stress. Proteolytic processing of the encoded protein results in the formation of two distinct homotetramers that differ in their ability to interact with the extracellular matrix (ECM). Homotetramers consisting of the intact protein, or type C subunit, exhibit high affinity for heparin and are anchored to the ECM. Homotetramers consisting of a proteolytically cleaved form of the protein, or type A subunit, exhibit low affinity for heparin and do not interact with the ECM. A mutation in this gene may be associated with increased heart disease risk. [provided by RefSeq, Oct 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_003093", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003093" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs563083233", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs563083233" }, { "id": "rs563083233", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs563083233" }, { "id": "rs563083233", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs563083233" }, { "id": "rs563083233", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs563083233#frequency_tab" }, { "id": "rs563083233", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs563083233" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 109, "end_pos": 109, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->NSP).", "chr_id": "4", "chr_pos": "24799846", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.001198", "site_lbl": "S109", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1367821404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1367821404" }, { "id": "rs1367821404", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1367821404#frequency_tab" }, { "id": "rs1367821404", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1367821404" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 120, "end_pos": 120, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "4", "chr_pos": "24799879", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D120", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "85.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109610", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109610" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "66.06", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000109610", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109610" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "86.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109610", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109610" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "78.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109610", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109610" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109610", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109610" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "84.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109610", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109610" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "69.11", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000109610", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109610" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "91.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109610", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109610" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "96.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109610", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109610" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "70.02", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000109610", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109610" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "72.75", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000109610", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109610" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "95.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109610", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109610" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "89.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109610", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109610" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P08294", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08294" } ], "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 Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P08294", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08294" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P08294", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08294" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P08294", "url": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08294" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08294" } ], "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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and biophysical research communications", "date": "2000", "authors": "Sekhar KR, Soltaninassab SR, Borrelli MJ, Xu ZQ, Meredith MJ, Domann FE, Freeman ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-9818027", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9818027" } ], "reference": [ { "type": "PubMed", "id": "10733945", "url": "https://glygen.org/publication/PubMed/10733945" } ] }, { "title": "Transcription factor Nrf2 coordinately regulates a group of oxidative stress-inducible genes in macrophages.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Ishii T, Itoh K, Takahashi S, Sato H, Yanagawa T, Katoh Y, Bannai S, Yamamoto M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9818027", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9818027" } ], "reference": [ { "type": "PubMed", "id": "10821856", "url": "https://glygen.org/publication/PubMed/10821856" } ] }, { "title": "Mitochondrial GPx1 decreases induced but not basal oxidative damage to mtDNA in T47D cells.", "journal": "Biochemical and biophysical research communications", "date": "2000", "authors": "Legault J, Carrier C, Petrov P, Renard P, Remacle J, Mirault ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-3299685", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299685" } ], "reference": [ { "type": "PubMed", "id": "10833429", "url": "https://glygen.org/publication/PubMed/10833429" } ] }, { "title": "The role of cellular glutathione peroxidase redox regulation in the suppression of tumor cell growth by manganese superoxide dismutase.", "journal": "Cancer research", "date": "2000", "authors": "Li S, Yan T, Yang JQ, Oberley TD, Oberley LW", "evidence": [ { "database": "Reactome", "id": "R-HSA-3299685", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299685" } ], "reference": [ { "type": "PubMed", "id": "10919671", "url": "https://glygen.org/publication/PubMed/10919671" } ] }, { "title": "The kinetics of the reduction of cytochrome c by the superoxide anion radical.", "journal": "Biochimica et biophysica acta", "date": "1976", "authors": "Koppenol WH, van Buuren KJ, Butler J, Braams R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3299685", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299685" } ], "reference": [ { "type": "PubMed", "id": "10982", "url": "https://glygen.org/publication/PubMed/10982" } ] }, { "title": "Mechanism of Cu,Zn-superoxide dismutase activation by the human metallochaperone hCCS.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Rae TD, Torres AS, Pufahl RA, O'Halloran TV", "evidence": [ { "database": "Reactome", "id": "R-HSA-3299685", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299685" } ], "reference": [ { "type": "PubMed", "id": "11018045", "url": "https://glygen.org/publication/PubMed/11018045" } ] }, { "title": "Mitochondrial respiratory chain-dependent generation of superoxide anion and its release into the intermembrane space.", "journal": "The Biochemical journal", "date": "2001", "authors": "Han D, Williams E, Cadenas E", "evidence": [ { "database": "Reactome", "id": "R-HSA-3299685", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299685" } ], "reference": [ { "type": "PubMed", "id": "11139407", "url": "https://glygen.org/publication/PubMed/11139407" } ] }, { "title": "The Cap'n'Collar basic leucine zipper transcription factor Nrf2 (NF-E2 p45-related factor 2) controls both constitutive and inducible expression of intestinal detoxification and glutathione biosynthetic enzymes.", "journal": "Cancer research", "date": "2001", "authors": "McMahon M, Itoh K, Yamamoto M, Chanas SA, Henderson CJ, McLellan LI, Wolf CR, Cavin C, Hayes JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-9818027", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9818027" } ], "reference": [ { "type": "PubMed", "id": "11309284", "url": "https://glygen.org/publication/PubMed/11309284" } ] }, { "title": "Subcellular distribution of superoxide dismutases (SOD) in rat liver: Cu,Zn-SOD in mitochondria.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Okado-Matsumoto A, Fridovich I", "evidence": [ { "database": "Reactome", "id": "R-HSA-3299685", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299685" } ], "reference": [ { "type": "PubMed", "id": "11507097", "url": "https://glygen.org/publication/PubMed/11507097" } ] }, { "title": "Crystal structure of human peroxiredoxin 5, a novel type of mammalian peroxiredoxin at 1.5 A resolution.", "journal": "Journal of molecular biology", "date": "2001", "authors": "Declercq JP, Evrard C, Clippe A, Stricht DV, Bernard A, Knoops B", "evidence": [ { "database": "Reactome", "id": "R-HSA-3299685", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299685" } ], "reference": [ { "type": "PubMed", "id": "11518528", "url": "https://glygen.org/publication/PubMed/11518528" } ] }, { "title": "Mutant Cu, Zn superoxide dismutase that causes motoneuron degeneration is present in mitochondria in the CNS.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2002", "authors": "Higgins CM, Jung C, Ding H, Xu Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-3299685", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299685" } ], "reference": [ { "type": "PubMed", "id": "11886899", "url": "https://glygen.org/publication/PubMed/11886899" } ] }, { "title": "Catalytic pathway of manganese superoxide dismutase by direct observation of superoxide.", "journal": "Methods in enzymology", "date": "2002", "authors": "Silverman DN, Nick HS", "evidence": [ { "database": "Reactome", "id": "R-HSA-3299685", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299685" } ], "reference": [ { "type": "PubMed", "id": "11912930", "url": "https://glygen.org/publication/PubMed/11912930" } ] }, { "title": "Identification of Nrf2-regulated genes induced by the chemopreventive agent sulforaphane by oligonucleotide microarray.", "journal": "Cancer research", "date": "2002", "authors": "Thimmulappa RK, Mai KH, Srisuma S, Kensler TW, Yamamoto M, Biswal S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9818027", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9818027" } ], "reference": [ { "type": "PubMed", "id": "12234984", "url": "https://glygen.org/publication/PubMed/12234984" } ] }, { "title": "Electrophile response element-mediated induction of the cystine/glutamate exchange transporter gene expression.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Sasaki H, Sato H, Kuriyama-Matsumura K, Sato K, Maebara K, Wang H, Tamba M, Itoh K, Yamamoto M, Bannai S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9818027", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9818027" } ], "reference": [ { "type": "PubMed", "id": "12235164", "url": 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Identification of novel gene clusters for cell survival.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Kwak MK, Wakabayashi N, Itoh K, Motohashi H, Yamamoto M, Kensler TW", "evidence": [ { "database": "Reactome", "id": "R-HSA-9818027", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9818027" } ], "reference": [ { "type": "PubMed", "id": "12506115", "url": "https://glygen.org/publication/PubMed/12506115" } ] }, { "title": "Overexpression of cytosolic glutathione peroxidase (GPX1) delays endothelial cell growth and increases resistance to toxic challenges.", "journal": "Biochimie", "date": "2003", "authors": "Faucher K, Rabinovitch-Chable H, Barriere G, Cook-Moreau J, Rigaud M", "evidence": [ { "database": "Reactome", "id": "R-HSA-3299685", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299685" } ], "reference": [ { "type": "PubMed", "id": "12829378", "url": "https://glygen.org/publication/PubMed/12829378" } ] }, { "title": "Assignment of SOD3 to human chromosome band 4p15.3-->p15.1 with somatic cell and radiation hybrid mapping, linkage mapping, and fluorescent in-situ hybridization.", "journal": "Cytogenetic and genome research", "date": "2003", "authors": "Stern LF, Chapman NH, Wijsman EM, Altherr MR, Rosen DR", "evidence": [ { "database": "RefSeq", "id": "NP_003093", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003093" } ], "reference": [ { "type": "PubMed", "id": "14619883", "url": "https://glygen.org/publication/PubMed/14619883" } ] }, { "title": "The intracellular proteolytic processing of extracellular superoxide dismutase (EC-SOD) is a two-step event.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Olsen DA, Petersen SV, Oury TD, Valnickova Z, Thogersen IB, Kristensen T, Bowler RP, Crapo JD, Enghild JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-3299685", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299685" } ], "reference": [ { "type": "PubMed", "id": 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Chem.", "date": "1994", "authors": "Sandstr\u00f6m J, Nilsson P, Karlsson K, Marklund S L", "evidence": [ { "database": "UniProtKB", "id": "P08294", "url": "https://www.uniprot.org/uniprot/P08294" } ], "reference": [ { "type": "PubMed", "id": "8034674", "url": "https://glygen.org/publication/PubMed/8034674" } ] }, { "title": "Purification and properties of human erythrocyte glutathione peroxidase.", "journal": "The Journal of biological chemistry", "date": "1975", "authors": "Awasthi YC, Beutler E, Srivastava SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-3299685", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299685" } ], "reference": [ { "type": "PubMed", "id": "807573", "url": "https://glygen.org/publication/PubMed/807573" } ] }, { "title": "Heparin-affinity patterns and composition of extracellular superoxide dismutase in human plasma and tissues.", "journal": "The Biochemical journal", "date": "1993", "authors": "Sandstrom J, Karlsson K, Edlund T, Marklund SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-3299685", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299685" } ], "reference": [ { "type": "PubMed", "id": "8379940", "url": "https://glygen.org/publication/PubMed/8379940" } ] }, { "title": "Expression, characterization, and tissue distribution of a new cellular selenium-dependent glutathione peroxidase, GSHPx-GI.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Chu FF, Doroshow JH, Esworthy RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-3299685", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299685" } ], "reference": [ { "type": "PubMed", "id": "8428933", "url": "https://glygen.org/publication/PubMed/8428933" } ] }, { "title": "Proteolytic modification of the heparin-binding affinity of extracellular superoxide dismutase.", "journal": "The Biochemical journal", "date": "1993", "authors": "Karlsson K, Edlund A, Sandstrom J, Marklund SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-3299685", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299685" } ], "reference": [ { "type": "PubMed", "id": "8452552", "url": "https://glygen.org/publication/PubMed/8452552" } ] }, { "title": "Substitution of glycine for arginine-213 in extracellular-superoxide dismutase impairs affinity for heparin and endothelial cell surface.", "journal": "Biochem. 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ATP7A and SOD3 directly interact. Mutations in ATP7A cause Menke's disease, a neurodegenerative condition.", "cellular_location": "Golgi lumen, cytosol, trans-Golgi network membrane", "input_participant_list": [ "R-HSA-3697878" ], "output_participant_list": [ "R-HSA-3697884" ], "enzyme_list": [ "Q04656-1", "P08294-1" ], "evidence": [ { "id": "R-HSA-3697838", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3697838" } ] }, { "id": "R-HSA-4837364", "name": "Secretion of SOD3", "equation": "", "summary": "SOD3 is secreted from cells into the extracellular region. Before secretion a portion of SOD3 molecules are cleaved near the C-terminus at glutamate-227 (glutamate-209 in the mature protein) (Olsen et al. 2004, Karlsson et al. 1993). Removal of the C-terminus prevents interaction with the extracellular matrix so cleaved molecules are soluble. 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