{ "uniprot_canonical_ac": "P00441-1", "uniprot_ac": "P00441", "uniprot_id": "SODC_HUMAN", "mass": { "chemical_mass": 15936.0, "monoisotopic_mass": 15936.0 }, "refseq": { "ac": "NP_000445", "name": "superoxide dismutase [Cu-Zn]", "summary": "The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. In addition, this protein contains an antimicrobial peptide that displays antibacterial, antifungal, and anti-MRSA activity against E. coli, E. faecalis, S. aureus, S. aureus MRSA LPV+, S. agalactiae, and yeast C. krusei. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. [provided by RefSeq, Jul 2020].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000445" }, "gene_names": [ { "name": "SOD1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P00441", "id": "P00441" }, { "name": "ALS; ALS1; HEL-S-44; homodimer; hSod1; IPOA; SOD; STAHP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000445", "id": "NP_000445" }, { "name": "SOD1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000445", "id": "NP_000445" } ], "protein_names": [ { "name": "Superoxide dismutase [Cu-Zn]", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P00441" }, { "name": "1.15.1.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00441" }, { "name": "Superoxide dismutase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00441" }, { "name": "hSod1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00441" }, { "name": "indophenoloxidase A; SOD, soluble; superoxide dismutase, cystolic; Cu/Zn superoxide dismutase; epididymis secretory protein Li 44; superoxide dismutase 1, soluble", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000445", "id": "NP_000445" }, { "name": "superoxide dismutase [Cu-Zn]", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000445", "id": "NP_000445" } ], "function": [ { "annotation": "CRISPR/Cas9 screens unravel miR-3689a-3p regulating sorafenib resistance in hepatocellular carcinoma via suppressing CCS/SOD1-dependent mitochondrial oxidative stress.", "evidence": [ { "database": "RefSeq", "id": "NP_000445", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000445" }, { "database": "PubMed", "id": "37924725", "url": "https://glygen.org/publication/PubMed/37924725" } ] }, { "annotation": "Destroys radicals which are normally produced within the cells and which are toxic to biological systems.", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441#function" }, { "database": "PubMed", "id": "24140062", "url": "https://glygen.org/publication/PubMed/24140062" }, { "database": "UniProtKB", "id": "H7BYH4", "url": "https://www.uniprot.org/uniprot/H7BYH4#function" }, { "database": "UniProtKB", "id": "RU000393", "url": "https://www.uniprot.org/uniprot/RU000393#function" }, { "database": "UniProtKB", "id": "ARBA00003917", "url": "https://www.uniprot.org/uniprot/ARBA00003917#function" } ] }, { "annotation": "Extreme diversity of 12 cations in folding ALS-linked hSOD1 unveils novel hSOD1-dependent mechanisms for Fe[2+]/Cu[2+]-induced cytotoxicity. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000445", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000445" }, { "database": "PubMed", "id": "37964005", "url": "https://glygen.org/publication/PubMed/37964005" } ] }, { "annotation": "In silico analysis of SOD1 aggregation inhibition modes of tertiary amine pyrazolone and pyrano coumarin ferulate as ALS drug candidates. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000445", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000445" }, { "database": "PubMed", "id": "37782142", "url": "https://glygen.org/publication/PubMed/37782142" } ] }, { "annotation": "SOD1 displays antimicrobial activity against E. coli, E. faecalis, S. aureus, S. aureus MRSA LPV+, S. agalactiae, and yeast C. krusei.", "evidence": [ { "database": "RefSeq", "id": "NP_000445", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000445" }, { "database": "PubMed", "id": "31958637", "url": "https://glygen.org/publication/PubMed/31958637" } ] }, { "annotation": "The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. In addition, this protein contains an antimicrobial peptide that displays antibacterial, antifungal, and anti-MRSA activity against E. coli, E. faecalis, S. aureus, S. aureus MRSA LPV+, S. agalactiae, and yeast C. krusei. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. [provided by RefSeq, Jul 2020].", "evidence": [ { "database": "RefSeq", "id": "NP_000445", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000445" } ] }, { "annotation": "Unveiling local and global conformational changes and allosteric communications in SOD1 systems using molecular dynamics simulation and network analyses.", "evidence": [ { "database": "RefSeq", "id": "NP_000445", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000445" }, { "database": "PubMed", "id": "37988788", "url": "https://glygen.org/publication/PubMed/37988788" } ] } ], "disease": [ { "disease_id": "DOID:0060193", "recommended_name": { "id": "DOID:0060193", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060193", "name": "amyotrophic lateral sclerosis type 1", "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. The most common type of familial ALS." }, "synonyms": [ { "id": "DOID:0060193", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060193", "name": "ALS1", "description": "" }, { "id": "DOID:0060193", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060193", "name": "amyotrophic lateral sclerosis 1", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis type 1", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "ALS1", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis 1", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis type 1", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "FALS", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis 1, autosomal dominant", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis 1, autosomal dominant amyotrophic lateral sclerosis 1, autosomal recessive, included", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis 1, autosomal recessive", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis 1, 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"MONDO:0032828", "recommended_name": { "id": "MONDO:0032828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032828", "name": "spastic tetraplegia and axial hypotonia, progressive", "description": "" }, "synonyms": [ { "id": "MONDO:0032828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032828", "name": "SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE", "description": "" }, { "id": "MONDO:0032828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032828", "name": "STAHP", "description": "" }, { "id": "MONDO:0032828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032828", "name": "Sod1 Deficiency, Autosomal Recessive", "description": "" }, { "id": "MIM:618598", "resource": "MIM", "url": "https://www.omim.org/entry/618598", "name": "Spastic tetraplegia and axial hypotonia, progressive", "description": "Spastic tetraplegia and axial hypotonia, progressive" } ], "evidence": [ { 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"database": "Bgee", "id": "ENSG00000142168", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142168" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "98.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000142168", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142168" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "98.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000142168", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142168" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "98.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000142168", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142168" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000142168", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142168" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "98.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000142168", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142168" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "99.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000142168", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142168" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": 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"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", 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"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, 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"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": "P00441", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00441" } ], "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 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"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", 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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": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P00441", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00441" } ], "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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The enzyme mechanism revisited.", "journal": "Journal of molecular biology", "date": "1999", "authors": "Ferraroni M, Rypniewski W, Wilson KS, Viezzoli MS, Banci L, Bertini I, Mangani S", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "reference": [ { "type": "PubMed", "id": "10329151", "url": "https://glygen.org/publication/PubMed/10329151" } ] }, { "title": "Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds.", "journal": "Human molecular genetics", "date": "1999", "authors": "Ratovitski T, Corson LB, Strain J, Wong P, Cleveland DW, Culotta VC, Borchelt DR", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "reference": [ { "type": "PubMed", "id": "10400992", "url": "https://glygen.org/publication/PubMed/10400992" } ] }, { "title": "A SOD1 gene mutation in a patient with slowly progressing familial ALS.", "journal": "Neurology", "date": "1999", "authors": "Penco S, Schenone A, Bordo D, Bolognesi M, Abbruzzese M, Bugiani O, Ajmar F, Garre C", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "reference": [ { "type": "PubMed", "id": "10430435", "url": "https://glygen.org/publication/PubMed/10430435" } ] }, { "title": "Characterization of human and murine PMP20 peroxisomal proteins that exhibit antioxidant activity in vitro.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Yamashita H, Avraham S, Jiang S, London R, Van Veldhoven PP, Subramani S, Rogers RA, Avraham H", "evidence": [ { "database": "Reactome", "id": "R-HSA-3299685", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299685" } ], "reference": [ { "type": "PubMed", "id": "10514471", "url": "https://glygen.org/publication/PubMed/10514471" } ] }, { "title": 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121912459" } ], "reference": [ { "type": "PubMed", "id": "11220750", "url": "https://glygen.org/publication/PubMed/11220750" } ] }, { "title": "Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations.", "journal": "Neuromuscular disorders : NMD", "date": "2001", "authors": "Gellera C, Castellotti B, Riggio MC, Silani V, Morandi L, Testa D, Casali C, Taroni F, Di Donato S, Zeviani M, Mariotti C", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "reference": [ { "type": "PubMed", "id": "11369193", "url": "https://glygen.org/publication/PubMed/11369193" } ] }, { "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, 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Yamane K, Abe K", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "reference": [ { "type": "PubMed", "id": "11535232", "url": "https://glygen.org/publication/PubMed/11535232" } ] }, { "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": 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"evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "reference": [ { "type": "PubMed", "id": "8069312", "url": "https://glygen.org/publication/PubMed/8069312" } ] }, { "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": "A novel mutation in Cu/Zn superoxide dismutase gene in Japanese familial amyotrophic lateral sclerosis.", "journal": "Biochemical and biophysical research communications", "date": "1994", "authors": "Nakano R, Sato S, Inuzuka T, Sakimura K, Mishina M, Takahashi H, Ikuta F, Honma Y, Fujii J, Taniguchi N, et al.", 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "muscle cell cellular homeostasis", "id": "GO:0046716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046716", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "intracellular iron ion homeostasis", "id": "GO:0006879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006879", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "positive regulation of catalytic activity", "id": "GO:0043085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043085", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "regulation of mitochondrial membrane potential", "id": "GO:0051881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051881", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "heart contraction", "id": "GO:0060047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060047", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "relaxation of vascular associated smooth muscle", "id": "GO:0060087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060087", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "placenta development", "id": "GO:0001890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001890", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "response to organic substance", "id": "GO:0010033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010033", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "retina homeostasis", "id": "GO:0001895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001895", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "thymus development", "id": "GO:0048538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048538", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "transmission of nerve impulse", "id": "GO:0019226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019226", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "ovarian follicle development", "id": "GO:0001541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001541", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "anterograde axonal transport", "id": "GO:0008089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008089", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "response to axon injury", "id": "GO:0048678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048678", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "hydrogen peroxide biosynthetic process", "id": "GO:0050665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050665", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "removal of superoxide radicals", "id": "GO:0019430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019430", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "reactive oxygen species metabolic process", "id": "GO:0072593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072593", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "peripheral nervous system myelin maintenance", "id": "GO:0032287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032287", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "response to heat", "id": "GO:0009408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009408", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "neurofilament cytoskeleton organization", "id": "GO:0060052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060052", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "embryo implantation", "id": "GO:0007566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007566", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "negative regulation of cholesterol biosynthetic process", "id": "GO:0045541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045541", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "myeloid cell homeostasis", "id": "GO:0002262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002262", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "ectopic germ cell programmed cell death", "id": "GO:0035234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035234", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "regulation of organ growth", "id": "GO:0046620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046620", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "auditory receptor cell stereocilium organization", "id": "GO:0060088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060088", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "superoxide metabolic process", "id": "GO:0006801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006801", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "regulation of protein kinase activity", "id": "GO:0045859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045859", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway", "id": "GO:1902177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902177", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "superoxide anion generation", "id": "GO:0042554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042554", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "glutathione metabolic process", "id": "GO:0006749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006749", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "action potential initiation", "id": "GO:0099610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099610", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "negative regulation of reproductive process", "id": "GO:2000242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000242", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "negative regulation of developmental process", "id": "GO:0051093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051093", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 16, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "mitochondrial intermembrane space", "id": "GO:0005758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005758", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "dendrite cytoplasm", "id": "GO:0032839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032839", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "axon cytoplasm", "id": "GO:1904115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904115", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 7, "go_terms": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "protein phosphatase 2B binding", "id": "GO:0030346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030346", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "superoxide dismutase activity", "id": "GO:0004784", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004784", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 87, "end_pos": 89, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Palmitoylation helps nuclear targeting and decreases catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" }, { "database": "PubMed", "id": "22496122", "url": "https://glygen.org/publication/PubMed/22496122" } ] }, { "annotation": "Succinylation, adjacent to copper catalytic site, probably inhibits activity. Desuccinylation by SIRT5 enhances activity.", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" }, { "database": "PubMed", "id": "24140062", "url": "https://glygen.org/publication/PubMed/24140062" } ] }, { "annotation": "The ditryptophan cross-link at Trp-33 is responsible for the non-disulfide-linked homodimerization. Such modification might only occur in extreme conditions and additional experimental evidence is required.", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" }, { "database": "PubMed", "id": "20600836", "url": "https://glygen.org/publication/PubMed/20600836" } ] }, { "annotation": "Unlike wild-type protein, the pathogenic variants ALS1 Arg-38, Arg-47, Arg-86 and Ala-94 are polyubiquitinated by RNF19A leading to their proteasomal degradation. The pathogenic variants ALS1 Arg-86 and Ala-94 are ubiquitinated by MARCH5 leading to their proteasomal degradation.", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" }, { "database": "PubMed", "id": "19741096", "url": "https://glygen.org/publication/PubMed/19741096" }, { "database": "PubMed", "id": "12145308", "url": "https://glygen.org/publication/PubMed/12145308" } ] } ], "interactions": [ { "interactor_id": "G19059PI", "interaction_name": "matrixdb:Chondroitin Sulfate A(short label)", "interaction_type": "Glycosaminoglycan", "evidence": [ { "database": "MatrixDB", "id": "GAG_4", "url": "http://matrixdb.univ-lyon1.fr/cgi-bin/current/newPort?type=biomolecule&value=GAG_4" }, { "database": "PubMed", "id": "3223905", "url": "https://glygen.org/publication/PubMed/3223905" } ] } ], "reactions": [ { "id": "20696", "name": "", "equation": "2 H(+) + 2 superoxide = H2O2 + O2", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q08420-1", "P07895-1", "P07632-1", "Q9JK72-1", "P00441-1", "P04179-1", "P08294-1", "P09671-1", "P08228-1", "O09164-1", "Q9WU84-1", "P00445-1", "P00447-1", "Q54TW8-1", "Q54G70-1", "Q54RN1-1", "Q54TU5-1", "Q55BJ9-1", "Q54RQ1-1", "Q55GQ5-1", "P61851-1", "Q00637-1", "Q7JR71-1", "Q9VBK8-1", "E1JH26-1" ], "evidence": [ { "id": "20696", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/20696" } ] }, { "id": "R-HSA-3299691", "name": "SOD1 catalyzes 2H+ + 2O2.- => O2 + H2O2 (cytosol)", "equation": "", "summary": "Cu-Zn superoxide dismutase (SOD1), originally known as erythrocuprein, catalyzes the reaction of two molecules of superoxide (O2.-) to yield one molecule of hydrogen peroxide (H2O2) and one molecule of oxygen (O2) (McCord and Fridovich 1969 assayed both bovine and human Cu-Zn superoxide dismutase, the human sample provided by Carrico and Deutsch). Diffusion of hydrogen peroxide, the product of SOD1, across the cytosol is limited (Mishina et al. 2011)", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-1222424" ], "output_participant_list": [], "enzyme_list": [ "P00441-1" ], "evidence": [ { "id": "R-HSA-3299691", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299691" } ] }, { "id": "R-HSA-3299753", "name": "CCS transfers Cu to SOD1 and oxidizes cysteine residues in SOD1", "equation": "", "summary": "Copper chaperone of superoxide dismutase (CCS) transfers a copper(I) atom to a SOD1 monomer that already contains a Zn atom. After initial heterodimerization between SOD1 and CCS, the copper atom is transferred, intramolecular cysteine disulfide bonds are formed in SOD1, and SOD1 dimerizes (Banci et al. 2012, Casareno et al. 1998, Culotta et al. 1997, Rae et al. 2001, Brown et al. 2004, Carroll et al. 2006, Kawamata and Manfredi 2008). The transfer of copper to SOD1 requires oxygen but it is unknown at which step the oxygen acts (Brown et al. 2004). There is also a CCS-independent, oxygen-independent pathway of maturation of SOD1 (Leitch et al. 2009) whose molecular details and physiological role are not well characterized.", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00441-1" ], "evidence": [ { "id": "R-HSA-3299753", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299753" } ] }, { "id": "R-HSA-3697860", "name": "SOD1:Zn2+ apoenzyme binds CCS:Zn2+:2xCu1+", "equation": "", "summary": "Copper chaperone of superoxide dismutase (CCS) transfers a copper(I) atom to a SOD1 monomer that already contains a Zn atom (Culotta et al. 1997, Casareno et al. 1998, Rae et al. 2001, Brown et al. 2004, Banci et al. 2012). The reaction proceeds by a two step mechanism in which SOD1 first forms heterodimers with CCS (Rae et al. 2001, Banci et al. 2012).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00441-1" ], "evidence": [ { "id": "R-HSA-3697860", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3697860" } ] }, { "id": "R-HSA-3777112", "name": "SOD1 catalyzes 2H+ + O2.- => O2 + H2O2 (mitochondrial intermembrane space)", "equation": "", "summary": "A portion of SOD1 is located in the mitochondrial intermembrane space (IMS) where it catalyzes the formation of oxygen (O2) and hydrogen peroxide (H2O2) from superoxide (O2.-) (He et al. 2011, Higgins et al. 2002, inferred from rat in Okado-Matsumoto and Fridovich 2001).", "cellular_location": "mitochondrial intermembrane space", "input_participant_list": [], "output_participant_list": [ "R-ALL-189481" ], "enzyme_list": [ "P00441-1" ], "evidence": [ { "id": "R-HSA-3777112", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3777112" } ] }, { "id": "R-HSA-3780958", "name": "SOD1:Zn2+ apoenzyme binds CCS:Cu1+ (mitochondrial)", "equation": "", "summary": "As inferred from the cytosolic reaction and from the mouse mitochondrial reaction, Copper chaperone of superoxide dismutase (CCS) transfers a copper(I) atom to a SOD1 monomer that already contains a Zn atom. The reaction proceeds by a two step mechanism in which SOD1 first forms heterodimers with CCS. The amounts of CCS and SOD1 in the intermembrane space appear to be regulated by the concentration of oxygen. Mutations in SOD1 are responsible for familial amyotrophic lateral sclerosis (fALS) and cause unregulated localization and aggregation of SOD1 in the intermembrane space (reviewed in Kawamata and Manfredi 2010).", "cellular_location": "mitochondrial intermembrane space", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00441-1" ], "evidence": [ { "id": "R-HSA-3780958", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3780958" } ] }, { "id": "R-HSA-3780979", "name": "CCS transfers Cu to SOD1 (mitochondrial)", "equation": "", "summary": "As inferred from the cytosolic reaction and from the mitochondrial reaction in mouse, Copper chaperone of superoxide dismutase (CCS) transfers a copper(I) atom to a SOD1 monomer that already contains a Zn atom. After initial heterodimerization between SOD1 and CCS, the copper atom is transferred, intramolecular cysteine disulfide bonds are formed in SOD1, and SOD1 dimerizes.", "cellular_location": "mitochondrial intermembrane space", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00441-1" ], "evidence": [ { "id": "R-HSA-3780979", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3780979" } ] }, { "id": "R-HSA-482772", "name": "Release of platelet cytosolic components", "equation": "", "summary": "Platelet releasate contains a range of proteins that do not originate in specialized storage granules. In some cases platelet lysis may contribute to the presence of these proteins in the platelet relesate.", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q8WZ42-1", "O94919-1", "P00441-1", "P68366-1" ], "evidence": [ { "id": "R-HSA-482772", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-482772" } ] }, { "id": "R-HSA-8950771", "name": "Expression of SOD1", "equation": "", "summary": "Experiments using human cord blood CD4(+) T cells show 22 protein spots and 20 protein spots, upregulated and downregulated proteins respectively, following Interleukin-12 stimulation (Rosengren et.al, 2005). Among the up-regulated proteins is :Superoxide dismutase [Cu-Zn](SOD1).", "cellular_location": "mitochondrial intermembrane space, nucleoplasm", "input_participant_list": [ "R-HSA-8950473" ], "output_participant_list": [ "R-HSA-3777082" ], "enzyme_list": [ "P00441-1" ], "evidence": [ { "id": "R-HSA-8950771", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8950771" } ] }, { "id": "R-HSA-8951723", "name": "2xSOD1:CCS:Zn2+:2xCu1+ dimer dissociates", "equation": "", "summary": "Copper chaperone of superoxide dismutase (CCS) transfers a copper(I) atom to a SOD1 monomer that already contains a Zn atom (Culotta et al. 1997, Casareno et al. 1998, Rae et al. 2001, Brown et al. 2004, Banci et al. 2012). The reaction proceeds by a two step mechanism in which SOD1 first forms heterodimers with CCS (Rae et al. 2001, Banci et al. 2012).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00441-1" ], "evidence": [ { "id": "R-HSA-8951723", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8951723" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-1222424", "participant_name": "O2.- [cytosol]", "crossref": [ { "id": "18421", "database": "ChEBI", "url": "" }, { "id": "HMDB0002168", "database": "HMDB Metabolite", "url": "" }, { "id": "C00704", "database": "COMPOUND", "url": "" }, { "id": "18421", "database": "ChEBI", "url": "" }, { "id": "HMDB0002168", "database": "HMDB Metabolite", "url": "" }, { "id": "C00704", "database": "COMPOUND", "url": "" }, { "id": "C00704", "database": "COMPOUND", "url": "" }, { "id": "18421", "database": "ChEBI", "url": "" }, { "id": "HMDB0002168", "database": 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