{ "uniprot_canonical_ac": "P01024-1", "uniprot_ac": "P01024", "uniprot_id": "CO3_HUMAN", "mass": { "chemical_mass": 187148.0, "monoisotopic_mass": 187148.0 }, "refseq": { "ac": "NP_000055", "name": "complement C3 preproprotein", "summary": "Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000055" }, "gene_names": [ { "name": "C3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P01024", "id": "P01024" }, { "name": "AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1; HEL-S-62p", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000055", "id": "NP_000055" }, { "name": "C3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000055", "id": "NP_000055" }, { "name": "CPAMD1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P01024", "id": "P01024" } ], "protein_names": [ { "name": "Complement C3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P01024" }, { "name": "C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01024" }, { "name": "C3adesArg", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01024" }, { "name": "acylation-stimulating protein cleavage product; prepro-C3; C3a anaphylatoxin; complement component C3a; complement component C3b; epididymis secretory sperm binding protein Li 62p; C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1; complement component 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000055", "id": "NP_000055" }, { "name": "complement C3 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000055", "id": "NP_000055" } ], "function": [ { "annotation": "A peptide (C3a) derived from the complement C3 protein has antimicrobial activity against E. coli, P. aeruginosa, E. faecalis, and C. albicans.", "evidence": [ { "database": "RefSeq", "id": "NP_000055", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000055" }, { "database": "PubMed", "id": "15550543", "url": "https://glygen.org/publication/PubMed/15550543" } ] }, { "annotation": "Acts as a chemoattractant for neutrophils in chronic inflammation.", "evidence": [ { "database": "UniProtKB", "id": "A0A8Q3SI05", "url": "https://www.uniprot.org/uniprot/A0A8Q3SI05#function" }, { "database": "UniProtKB", "id": "ARBA00003326", "url": "https://www.uniprot.org/uniprot/ARBA00003326#function" }, { "database": "UniProtKB", "id": "A0A8Q3SI45", "url": "https://www.uniprot.org/uniprot/A0A8Q3SI45#function" }, { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024#function" } ] }, { "annotation": "Adipogenic hormone that stimulates triglyceride (TG) synthesis and glucose transport in adipocytes, regulating fat storage and playing a role in postprandial TG clearance. Appears to stimulate TG synthesis via activation of the PLC, MAPK and AKT signaling pathways. Ligand for C5AR2. Promotes the phosphorylation, ARRB2-mediated internalization and recycling of C5AR2 (PubMed:8376604, PubMed:2909530, PubMed:9059512, PubMed:10432298, PubMed:15833747, PubMed:16333141, PubMed:19615750).", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024#function" }, { "database": "PubMed", "id": "10432298", "url": "https://glygen.org/publication/PubMed/10432298" }, { "database": "PubMed", "id": "19615750", "url": "https://glygen.org/publication/PubMed/19615750" }, { "database": "PubMed", "id": "9059512", "url": "https://glygen.org/publication/PubMed/9059512" }, { "database": "PubMed", "id": "16333141", "url": "https://glygen.org/publication/PubMed/16333141" }, { "database": "PubMed", "id": "15833747", "url": "https://glygen.org/publication/PubMed/15833747" }, { "database": "PubMed", "id": "2909530", "url": "https://glygen.org/publication/PubMed/2909530" }, { "database": "PubMed", "id": "8376604", "url": "https://glygen.org/publication/PubMed/8376604" } ] }, { "annotation": "C3 plays a central role in the activation of the complement system. Its processing by C3 convertase is the central reaction in both classical and alternative complement pathways. After activation C3b can bind covalently, via its reactive thioester, to cell surface carbohydrates or immune aggregates.", "evidence": [ { "database": "UniProtKB", "id": "A0A8Q3SI05", "url": "https://www.uniprot.org/uniprot/A0A8Q3SI05#function" }, { "database": "UniProtKB", "id": "ARBA00002877", "url": "https://www.uniprot.org/uniprot/ARBA00002877#function" }, { "database": "UniProtKB", "id": "A0A8Q3SI45", "url": "https://www.uniprot.org/uniprot/A0A8Q3SI45#function" }, { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024#function" } ] }, { "annotation": "Complement C3 as a potential drug target in periodontitis: Evidence from the cis-Mendelian randomization approach.", "evidence": [ { "database": "RefSeq", "id": "NP_000055", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000055" }, { "database": "PubMed", "id": "37926509", "url": "https://glygen.org/publication/PubMed/37926509" } ] }, { "annotation": "Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_000055", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000055" } ] }, { "annotation": "Derived from proteolytic degradation of complement C3, C3a anaphylatoxin is a mediator of local inflammatory process. In chronic inflammation, acts as a chemoattractant for neutrophils (By similarity). It induces the contraction of smooth muscle, increases vascular permeability and causes histamine release from mast cells and basophilic leukocytes.", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024#function" } ] }, { "annotation": "Serum Uric Acid Associates with Systemic Complement C3 Activation in Severe ANCA-Associated Renal Vasculitides. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000055", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000055" }, { "database": "PubMed", "id": "38255787", "url": "https://glygen.org/publication/PubMed/38255787" } ] }, { "annotation": "Trypanosoma brucei Invariant Surface gp65 Inhibits the Alternative Pathway of Complement by Accelerating C3b Degradation.", "evidence": [ { "database": "RefSeq", "id": "NP_000055", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000055" }, { "database": "PubMed", "id": "37466368", "url": "https://glygen.org/publication/PubMed/37466368" } ] } ], "disease": [ { "disease_id": "DOID:0110021", "recommended_name": { "id": "DOID:0110021", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110021", "name": "age related macular degeneration 9", "description": "An age related macular degeneration conferred by variation in the C3 gene on chromosome 19p13." }, "synonyms": [ { "id": "DOID:0110021", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110021", "name": "ARMD9", "description": "" }, { "id": "MONDO:0012659", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012659", "name": "age related macular degeneration 9", "description": "Any age-related macular degeneration in which the cause of the disease is a mutation in the C3 gene." }, { "id": "MONDO:0012659", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012659", "name": "ARMD9", "description": "" }, { "id": "MONDO:0012659", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012659", "name": "C3 age-related macular degeneration", "description": "" }, { "id": "MONDO:0012659", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012659", "name": "age related macular degeneration type 9", "description": "" }, { "id": "MONDO:0012659", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012659", "name": "age-related macular degeneration caused by mutation in C3", "description": "" }, { "id": "MONDO:0012659", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012659", "name": "macular Degeneration, age-related, type 9", "description": "" }, { "id": "MONDO:0012659", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012659", "name": "macular degeneration, age-related, 9", "description": "" }, { "id": "MIM:611378", "resource": "MIM", "url": "https://www.omim.org/entry/611378", "name": "Macular degeneration, age-related, 9", "description": "Macular degeneration, age-related, 9" } ], "evidence": [ { "id": "611378", "database": "MIM", "url": "https://www.omim.org/entry/611378" } ] }, { "disease_id": "DOID:8354", "recommended_name": { "id": "DOID:8354", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8354", "name": "complement component 3 deficiency", "description": "A complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and has_material_basis_in autosomal recessive inheritance of mutation in the C3 gene on chromosome 19p13.3, has_symptom recurrent bacterial infections." }, "synonyms": [ { "id": "DOID:8354", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8354", "name": "C3 deficiency", "description": "" }, { "id": "MONDO:0013417", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013417", "name": "complement component 3 deficiency", "description": "A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease." }, { "id": "MONDO:0013417", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013417", "name": "C3 classic complement early component deficiency", "description": "" }, { "id": "MONDO:0013417", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013417", "name": "C3 deficiency", "description": "" }, { "id": "MONDO:0013417", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013417", "name": "classic complement early component deficiency caused by mutation in C3", "description": "" }, { "id": "MONDO:0013417", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013417", "name": "C3 deficiency, autosomal recessive", "description": "" }, { "id": "MONDO:0013417", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013417", "name": "C3d", "description": "" }, { "id": "MONDO:0013417", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013417", "name": "complement component 3 deficiency, autosomal recessive", "description": "" }, { "id": "MIM:613779", "resource": "MIM", "url": "https://www.omim.org/entry/613779", "name": "Complement component 3 deficiency", "description": "Complement component 3 deficiency" } ], "evidence": [ { "id": "613779", "database": "MIM", "url": "https://www.omim.org/entry/613779" } ] }, { "disease_id": "MONDO:0013043", "recommended_name": { "id": "MONDO:0013043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013043", "name": "atypical hemolytic-uremic syndrome with C3 anomaly", "description": "" }, "synonyms": [ { "id": "MONDO:0013043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013043", "name": "D-HUS with C3 anomaly", "description": "" }, { "id": "MONDO:0013043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013043", "name": "aHUS with C3 anomaly", "description": "" }, { "id": "MONDO:0013043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013043", "name": "atypical HUS with C3 anomaly", "description": "" }, { "id": "MONDO:0013043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013043", "name": "hemolytic uremic syndrome, atypical, susceptibility to, type 5", "description": "" }, { "id": "MONDO:0013043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013043", "name": "hemolytic-uremic syndrome without diarrhea with C3 anomaly", "description": "" }, { "id": "MONDO:0013043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013043", "name": "hemolytic-uremic syndrome without diarrhoea with C3 anomaly", "description": "" }, { "id": "MONDO:0013043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013043", "name": "AHUS5", "description": "" }, { "id": "MONDO:0013043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013043", "name": "Ahus, susceptibility to, 5", "description": "" }, { "id": "MONDO:0013043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013043", "name": "hemolytic uremic syndrome, atypical, susceptibility to, 5", "description": "" }, { "id": "MONDO:0013043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013043", "name": "susceptibility to atypical hemolytic uremic syndrome 5", "description": "" }, { "id": "MIM:612925", "resource": "MIM", "url": "https://www.omim.org/entry/612925", "name": "Hemolytic uremic syndrome atypical 5", "description": "Hemolytic uremic syndrome atypical 5" } ], "evidence": [ { "id": "612925", "database": "MIM", "url": "https://www.omim.org/entry/612925" } ] } ], "snv": [ { "evidence": [ { "id": "rs1599507415", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1599507415" }, { "id": "rs1599507415", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1599507415" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1029, "end_pos": 1029, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DET->NET).", "chr_id": "19", "chr_pos": "6694500", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1029", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P01024", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01024" } ], "glycoeffect": [], "start_pos": 1122, "end_pos": 1122, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "6692949", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A1122", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant 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"alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1450", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775112459", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775112459" }, { "id": "rs775112459", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775112459#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1617, "end_pos": 1617, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->SLS).", "chr_id": "19", "chr_pos": "6678152", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1617", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2230210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2230210" }, { "id": "rs2230210", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2230210" }, { "id": "rs2230210", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2230210" }, { "id": "rs2230210", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2230210#frequency_tab" }, { "id": "rs2230210", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2230210" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1619, "end_pos": 1619, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->NLG).", "chr_id": "19", "chr_pos": "6678019", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "S1619", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2230210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2230210" }, { "id": "rs2230210", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2230210" }, { "id": "rs2230210", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2230210" }, { "id": "rs2230210", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2230210#frequency_tab" }, { "id": "rs2230210", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2230210" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1619, "end_pos": 1619, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->NLR).", "chr_id": "19", "chr_pos": "6678019", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "S1619", "disease": [ { "disease_id": "DOID:0110021", "recommended_name": { "id": "DOID:0110021", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110021", "name": "age related macular degeneration 9", "description": "An age related macular degeneration conferred by variation in the C3 gene on chromosome 19p13." }, "synonyms": [ { "id": "DOID:0110021", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110021", "name": "ARMD9", "description": "" }, { "id": "MONDO:0012659", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012659", "name": "age related macular degeneration 9", "description": "Any age-related macular degeneration in which the cause of the disease is a mutation in the C3 gene." }, { "id": "MONDO:0012659", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012659", "name": "ARMD9", "description": "" }, { "id": "MONDO:0012659", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012659", "name": "C3 age-related macular degeneration", "description": "" }, { "id": "MONDO:0012659", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012659", "name": "age related macular degeneration type 9", "description": "" }, { "id": "MONDO:0012659", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012659", "name": "age-related macular degeneration caused by mutation in C3", "description": "" }, { "id": "MONDO:0012659", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012659", "name": "macular Degeneration, age-related, type 9", "description": "" }, { "id": "MONDO:0012659", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012659", "name": "macular degeneration, age-related, 9", "description": "" }, { "id": "MIM:611378", "resource": "MIM", "url": "https://www.omim.org/entry/611378", "name": "Macular degeneration, age-related, 9", "description": "Macular degeneration, age-related, 9" } ] }, { "disease_id": "DOID:8354", "recommended_name": { "id": "DOID:8354", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8354", "name": "complement component 3 deficiency", "description": "A complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and has_material_basis_in autosomal recessive inheritance of mutation in the C3 gene on chromosome 19p13.3, has_symptom recurrent bacterial infections." }, "synonyms": [ { "id": "DOID:8354", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8354", "name": "C3 deficiency", "description": "" }, { "id": "MONDO:0013417", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013417", "name": "complement component 3 deficiency", "description": "A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease." }, { "id": "MONDO:0013417", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013417", "name": "C3 classic complement early component deficiency", "description": "" }, { "id": "MONDO:0013417", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013417", "name": "C3 deficiency", "description": "" }, { "id": "MONDO:0013417", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013417", "name": "classic complement early component deficiency caused by mutation in C3", "description": "" }, { "id": "MONDO:0013417", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013417", "name": "C3 deficiency, autosomal recessive", "description": "" }, { "id": "MONDO:0013417", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013417", "name": "C3d", "description": "" }, { "id": "MONDO:0013417", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013417", "name": "complement component 3 deficiency, autosomal recessive", "description": "" }, { "id": "MIM:613779", "resource": "MIM", "url": "https://www.omim.org/entry/613779", "name": "Complement component 3 deficiency", "description": "Complement component 3 deficiency" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs777405511", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777405511" }, { "id": "rs777405511", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777405511" }, { "id": "rs777405511", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777405511#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1653, "end_pos": 1653, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TES->NES).", "chr_id": "19", "chr_pos": "6677916", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1653", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs794729228", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs794729228" }, { "id": "rs794729228", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs794729228" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 214, "end_pos": 214, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSP->NSS).", "chr_id": "19", "chr_pos": "6714208", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P214", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770901519", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770901519" }, { "id": "rs770901519", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770901519" }, { "id": "rs770901519", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770901519" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 348, "end_pos": 348, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IVT->NVT).", "chr_id": "19", "chr_pos": "6712584", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I348", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1259952876", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1259952876" }, { "id": "rs1259952876", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1259952876#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 358, "end_pos": 358, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TKT->NKT).", "chr_id": "19", "chr_pos": "6712554", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T358", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1217253146", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1217253146" }, { "id": "rs1217253146", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1217253146#frequency_tab" }, { "id": "rs1217253146", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1217253146" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 731, "end_pos": 731, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NYI->NYT).", "chr_id": "19", "chr_pos": "6694517", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I731", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776156853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776156853" }, { "id": "rs776156853", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776156853" }, { "id": "rs776156853", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776156853" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 786, "end_pos": 786, "sequence_org": "I", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IST->NST).", "chr_id": "19", "chr_pos": "6702210", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I786", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P01024", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01024" } ], "glycoeffect": [], "start_pos": 822, "end_pos": 822, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "6697771", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E822", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix 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"UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "97.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125730", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125730" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "92.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125730", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125730" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "98.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125730", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125730" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "98.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125730", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125730" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "98.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125730", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125730" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "99.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125730", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125730" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "96.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125730", "url": 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"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": 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"BioXpress", "id": "P01024", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01024" } ], "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": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01024" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"categories": [ "Protein" ] }, { "id": "P01024-1", "url": "https://www.uniprot.org/uniprot/P01024-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGPTSGPSLLLLLLTHLPLALGSPMYSIITPNILRLESEETMVLEAHDAQGDVPVTVTVHDFPGKKLVLSSEKTVLTPATNHMGNVTFTIPANREFKSEKGRNKFVTVQATFGTQVVEKVVLVSLQSGYLFIQTDKTIYTPGSTVLYRIFTVNHKLLPVGRTVMVNIENPEGIPVKQDSLSSQNQLGVLPLSWDIPELVNMGQWKIRAYYENSPQQVFSTEFEVKEYVLPSFEVIVEPTEKFYYIYNEKGLEVTITARFLYGKKVEGTAFVIFGIQDGEQRISLPESLKRIPIEDGSGEVVLSRKVLLDGVQNPRAEDLVGKSLYVSATVILHSGSDMVQAERSGIPIVTSPYQIHFTKTPKYFKPGMPFDLMVFVTNPDGSPAYRVPVAVQGEDTVQSLTQGDGVAKLSINTHPSQKPLSITVRTKKQELSEAEQATRTMQALPYSTVGNSNNYLHLSVLRTELRPGETLNVNFLLRMDRAHEAKIRYYTYLIMNKGRLLKAGRQVREPGQDLVVLPLSITTDFIPSFRLVAYYTLIGASGQREVVADSVWVDVKDSCVGSLVVKSGQSEDRQPVPGQQMTLKIEGDHGARVVLVAVDKGVFVLNKKNKLTQSKIWDVVEKADIGCTPGSGKDYAGVFSDAGLTFTSSSGQQTAQRAELQCPQPAARRRRSVQLTEKRMDKVGKYPKELRKCCEDGMRENPMRFSCQRRTRFISLGEACKKVFLDCCNYITELRRQHARASHLGLARSNLDEDIIAEENIVSRSEFPESWLWNVEDLKEPPKNGISTKLMNIFLKDSITTWEILAVSMSDKKGICVADPFEVTVMQDFFIDLRLPYSVVRNEQVEIRAVLYNYRQNQELKVRVELLHNPAFCSLATTKRRHQQTVTIPPKSSLSVPYVIVPLKTGLQEVEVKAAVYHHFISDGVRKSLKVVPEGIRMNKTVAVRTLDPERLGREGVQKEDIPPADLSDQVPDTESETRILLQGTPVAQMTEDAVDAERLKHLIVTPSGCGEQNMIGMTPTVIAVHYLDETEQWEKFGLEKRQGALELIKKGYTQQLAFRQPSSAFAAFVKRAPSTWLTAYVVKVFSLAVNLIAIDSQVLCGAVKWLILEKQKPDGVFQEDAPVIHQEMIGGLRNNNEKDMALTAFVLISLQEAKDICEEQVNSLPGSITKAGDFLEANYMNLQRSYTVAIAGYALAQMGRLKGPLLNKFLTTAKDKNRWEDPGKQLYNVEATSYALLALLQLKDFDFVPPVVRWLNEQRYYGGGYGSTQATFMVFQALAQYQKDAPDHQELNLDVSLQLPSRSSKITHRIHWESASLLRSEETKENEGFTVTAEGKGQGTLSVVTMYHAKAKDQLTCNKFDLKVTIKPAPETEKRPQDAKNTMILEICTRYRGDQDATMSILDISMMTGFAPDTDDLKQLANGVDRYISKYELDKAFSDRNTLIIYLDKVSHSEDDCLAFKVHQYFNVELIQPGAVKVYAYYNLEESCTRFYHPEKEDGKLNKLCRDELCRCAEENCFIQKSDDKVTLEERLDKACEPGVDYVYKTRLVKVQLSNDFDEYIMAIEQTIKSGSDEVQVGQQRTFISPIKCREALKLEEKKHYLMWGLSSDFWGEKPNLSYIIGKDTWVEHWPEEDECQDEENQKQCQDLGAFTESMVVFGCPN", "length": 1663, "header": "sp|P01024-1|CO3_HUMAN Isoform 1 of Complement C3 OS=Homo sapiens OX=9606 GN=C3 PE=1 SV=2 CANONICAL=P01024-1" }, "isoforms": [ { "isoform_ac": "A0A8Q3SI05-1", "url": "", "sequence": { "sequence": "IEDGSGEVVLSRKVLLDGVQNPRAEDLVGKSLYVSATVILHSGSDMVQAERSGIPIVTSPYQIHFTKTPKYFKPGMPFDLMVFVTNPDGSPAYRVPVAVQGEDTVQSLTQGDGVAKLSINTHPSQKPLSITVRTKKQELSEAEQATRTMQALPYSTVGNSNNYLHLSVLRTELRPGETLNVNFLLRMDRAHEAKIRYYTYLIMNKGRLLKAGRQVREPGQDLVVLPLSITTDFIPSFRLVAYYTLIGASGQREVVADSVWVDVKDSCVGSLVVKSGQSEDRQPVPGQQMTLKIEGDHGARVVLVAVDKGVFVLNKKNKLTQSKIWDVVEKADIGCTPGSGKDYAGVFSDAGLTFTSSSGQQTAQRAELQCPQPAARRRRSVQLTEKRMDKVGKYPKELRKCCEDGMRENPMRFSCQRRTRFISLGEACKKVFLDCCNYITELRRQHARASHLGLARSNLDEDIIAEENIVSRSEFPESWLWNVEDLKEPPKNGISTKLMNIFLKDSITTWEILAVSMSDKKGICVADPFEVTVMQDFFIDLRLPYSVVRNEQVEIRAVLYNYRQNQELKVRVELLHNPAFCSLATTKRRHQQTVTIPPKSSLSVPYVIVPLKTGLQEVEVKAAVYHHFISDGVRKSLKVVPEGIRMNKTVAVRTLDPERLGREGVQKEDIPPADLSDQVPDTESETRILLQGTPVAQMTEDAVDAERLKHLIVTPSGCGEQNMIGMTPTVIAVHYLDETEQWEKFGLEKRQGALELIKKGYTQQLAFRQPSSAFAAFVKRAPSTWLTAYVVKVFSLAVNLIAIDSQVLCGAVKWLILEKQKPDGVFQEDAPVIHQEMISLPGSITKAGDFLEANYMNLQRSYTVAIAGYALAQMGRLKGPLLNKFLTTAKDKNRWEDPGKQLYNVEATSYALLALLQLKDFDFVPPVVRWLNEQRYYGGGYGSTQATFMVFQALAQYQKDAPDHQELNLDVSLQLPSRSSKITHRIHWESASLLRSEETKENEGFTVTAEGKGQGTLSVVTMYHAKAKDQLTCNKFDLKVTIKPAPETEKRPQDAKNTMILEICTRYRGDQDATMSILDISMMTGFAPDTDDLKQLANGVDRYISKYELDKAFSDRNTLIIYLDKVSHSEDDCLAFKVHQYFNVELIQPGAVKVYAYYNLEESCTRFYHPEKEDGKLNKLCRDELCRCAEENCFIQKSDDKVTLEERLDKACEPGVDYVYKTRLVKVQLSNDFDEYIMAIEQTIKSGSDEVQVGQQRTFISPIKCREALKLEEKKHYLMWGLSSDFWGEKPNLSYIIGKDTWVEHWPEEDECQDEENQKQCQDLGAFTESMVVFGCPN", "length": 1338, "header": "tr|A0A8Q3SI05-1|CO3_HUMAN Computationally mapped isoform of Complement C3 OS=Homo sapiens OX=9606 GN=C3 PE=1 SV=1 CANONICAL=P01024-1" }, "locus": { "chromosome": "19", "start_pos": 6713315, "end_pos": 6677885, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695654.1", "url": "https://www.ensembl.org/id/ENST00000695654.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512085.1", "url": "https://www.ensembl.org/id/ENSP00000512085.1" } ] } }, { "isoform_ac": "A0A8Q3SI22-1", "url": "", "sequence": { "sequence": "VFVTNPDGSPAYRVPVAVQGEDTVQSLTQGDGVAKLSINTHPSQKPLSITVRTKKQELSEAEQATRTMQALPYSTVGNSNNYLHLSVLRTELRPGETLNVNFLLRMDRAHEAKIRYYTYLPDASLSPQIMNKGRLLKAGRQVREPGQDLVVLPLSITTDFIPSFRLVAYYTLIGASGQREVVADSVWVDVKDSCVGSG", "length": 198, "header": "tr|A0A8Q3SI22-1|CO3_HUMAN Computationally mapped isoform of Complement C3 OS=Homo sapiens OX=9606 GN=C3 PE=1 SV=1 CANONICAL=P01024-1" }, "locus": { "chromosome": "19", "start_pos": 6712406, "end_pos": 6709876, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695655.1", "url": "https://www.ensembl.org/id/ENST00000695655.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512086.1", "url": "https://www.ensembl.org/id/ENSP00000512086.1" } ] } }, { "isoform_ac": "A0A8Q3SI34-1", "url": "", "sequence": { "sequence": "IEDGSGEVVLSRKVLLDGVQNPRAEDLVGKSLYVSATVILHSERSGIPIVTSPYQIHFTKTPKYFKPGMPFDLMVFVTNPDGSPAYRVPVAVQGEDTVQSLTQGDGVAKLSINTHP", "length": 116, "header": "tr|A0A8Q3SI34-1|A0A8Q3SI34_HUMAN Computationally mapped isoform of Complement C3 OS=Homo sapiens OX=9606 GN=C3 PE=1 SV=1 CANONICAL=P01024-1" }, "locus": { "chromosome": "19", "start_pos": 6713315, "end_pos": 6712281, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000594270.5", "url": "https://www.ensembl.org/id/ENST00000594270.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000512087.1", "url": "https://www.ensembl.org/id/ENSP00000512087.1" } ] } }, { "isoform_ac": "A0A8Q3SI45-1", "url": "", "sequence": { "sequence": "MRENPMRFSCQRRTRFISLGEACKKVFLDCCNYITELRRQHARASHLGLARSNLDEDIIAEENIVSRSEFPESWLWNVEDLKEPPKNGISTKLMNIFLKDSITTWEILAVSMSDKKGICVADPFEVTVMQDFFIDLRLPYSVVRNEQVEIRAVLYNYRQNQELKVRVELLHNPAFCSLATTKRRHQQTVTIPPKSSLSVPYVIVPLKTGLQEVEVKAAVYHHFISDGVRKSLKVVPEGIRMNKTVAVRTLDPERLGREGVQKEDIPPADLSDQVPDTESETRILLQGTPVAQMTEDAVDAERLKHLIVTPSGCGEQNMIGMTPTVIAVHYLDETEQWEKFGLEKRQGALELIKKGYTQQLAFRQPSSAFAAFVKRAPSTWLTAYVVKVFSLAVNLIAIDSQVLCGAVKWLILEKQKPDGVFQEDAPVIHQEMIGGLRNNNEKDMALTAFVLISLQEAKDICEEQVNSLPGSITKAGDFLEANYMNLQRSYTVAIAGYALAQMGRLKGPLLNKFLTTAKDKNRWEDPGKQLYNVEATSYALLALLQLKDFDFVPPVVRWLNEQRYYGGGYGSTQATFMVFQALAQYQKDAPDHQELNLDVSLQLPSRSSKITHRIHWESASLLRSEETKENEGFTVTAEGKGQGTLSVVTMYHAKAKDQLTCNKFDLKVTIKPAPETEKRPQDAKNTMILEICTRYRGDQDATMSILDISMMTGFAPDTDDLKQLANGVDRYISKYELDKAFSDRNTLIIYLDKVSHSEDDCLAFKVHQYFNVELIQPGAVKVYAYYNLEESCTRFYHPEKEDGKLNKLCRDELCRCAEENCFIQKSDDKVTLEERLDKACEPGVDYVYKTRLVKVQLSNDFDEYIMAIEQTIKSGSDEVQVGQQRTFISPIKCREALKLEEKKHYLMWGLSSDFWGEKPNLSYIIGKDTWVEHWPEEDECQDEENQKQCQDLGAFTESMVVFGCPN", "length": 966, "header": "tr|A0A8Q3SI45-1|CO3_HUMAN Computationally mapped isoform of Complement C3 OS=Homo sapiens OX=9606 GN=C3 PE=1 SV=1 CANONICAL=P01024-1" }, "locus": { "chromosome": "19", "start_pos": 6707229, "end_pos": 6677885, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695653.1", "url": "https://www.ensembl.org/id/ENST00000695653.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512084.1", "url": "https://www.ensembl.org/id/ENSP00000512084.1" } ] } }, { "isoform_ac": "A0A8Q3WKN7-1", "url": "", "sequence": { "sequence": "KVTIKPAPETEKRPQDAKNTMILEICTRLKS", "length": 31, "header": "tr|A0A8Q3WKN7-1|CO3_HUMAN Computationally mapped isoform of Complement C3 OS=Homo sapiens OX=9606 GN=C3 PE=1 SV=1 CANONICAL=P01024-1" }, "locus": { "chromosome": "19", "start_pos": 6684590, "end_pos": 6682657, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695689.1", "url": "https://www.ensembl.org/id/ENST00000695689.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512101.1", "url": "https://www.ensembl.org/id/ENSP00000512101.1" } ] } }, { "isoform_ac": "A0A8Q3WLS3-1", "url": "", "sequence": { "sequence": "MGPTSGPSLLLLLLTHLPLALGSPMYSIITPNILRLESEETMVLEAHDAQGDVPVTVTVHDFPGKKLVLSSEKTVLTPATNHMGNVTFTIPANREFKSEKGRNKFVTVQATFGTQVVEKVVLVSLQSGYLFIQTDKTIYTPGSTVLYRIFTVNHKLLPVGRTVMVNIEVQWLTLVIPAVWEAKAGGSLEPKSPRPAWATQPDPVSTKKKS", "length": 210, "header": "tr|A0A8Q3WLS3-1|CO3_HUMAN Computationally mapped isoform of Complement C3 OS=Homo sapiens OX=9606 GN=C3 PE=1 SV=1 CANONICAL=P01024-1" }, "locus": { "chromosome": "19", "start_pos": 6720589, "end_pos": 6716404, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695693.1", "url": "https://www.ensembl.org/id/ENST00000695693.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512104.1", "url": "https://www.ensembl.org/id/ENSP00000512104.1" } ] } }, { "isoform_ac": "A0A8Q3WM02-1", "url": "", "sequence": { "sequence": "MVLEAHDAQGDVPVTVTVHDFPGKKLVLSSEKTVLTPATNHMGNVTFTIPANREFKSEKGRNKFVTVQATFGTQVVEKVVLVSLQSGYLFIQTDKTIYTPGSTVLYRIFTVNHKLLPVGRTVMVNIENPEGIPVKQDSLSSQNQLGVLPLSWDIPELVNMGQWKIRAYYENSPQQVFSTEFEVKEYVLPSFEVIVEPTEKFYYIYNEKGLEVTITARFLYGKKVEGTAFVIFGIQDGEQRISLPESLKRIPIEDGSGEVVLSRKVLLDGVQNPRAEDLVGKSLYVSATVILHSGSDMVQAERSGIPIVTSPYQIHFTKTPKYFKPGMPFDLMVFVTNPDGSPAYRVPVAVQGEDTVQSLTQGDGVAKLSINTHPSQKPLSITVRTKKQELSEAEQATRTMQALPYSTVGNSNNYLHLSVLRTELRPGETLNVNFLLRMDRAHEAKIRYYTYLIMNKGRLLKAGRQVREPGQDLVVLPLSITTDFIPSFRLVAYYTLIGASGQREVVADSVWVDVKDSCVGSLVVKSGQSEDRQPVPGQQMTLKIEGDHGARVVLVAVDKGVFVLNKKNKLTQSKIWDVVEKADIGCTPGSGKDYAGVFSDAGLTFTSSSGQQTAQRAELQCPQPAARRRRSVQLTEKRMDKVGKYPKELRKCCEDGMRENPMRFSCQRRTRFISLGEACKKVFLDCCNYITELRRQHARASHLGLARSNLDEDIIAEENIVSRSEFPESWLWNVEDLKEPPKNGISTKLMNIFLKDSITTWEILAVSMSDKKGICVADPFEVTVMQDFFIDLRLPYSVVRNEQVEIRAVLYNYRQNQELKVRVELLHNPAFCSLATTKRRHQQTVTIPPKSSLSVPYVIVPLKTGLQEVEVKAAVYHHFISDGVRKSLKVVPEGIRMNKTVAVRTLDPERLGREGVQKEDIPPADLSDQVPDTESETRILLQGTPVAQMTEDAVDAERLKHLIVTPSGCGEQNMIGMTPTVIAVHYLDETEQWEKFGLEKRQGALELIKKGYTQQLAFRQPSSAFAAFVKRAPSTWLTAYVVKVFSLAVNLIAIDSQVLCGAVKWLILEKQKPDGVFQEDAPVIHQEMIGGLRNNNEKDMALTAFVLISLQEAKDICEEQVNSLPGSITKAGDFLEANYMNLQRSYTVAIAGYALAQMGRLKGPLLNKFLTTAKDKNRWEDPGKQLYNVEATSYALLALLQLKDFDFVPPVVRWLNEQRYYGGGYGSTQ", "length": 1229, "header": "tr|A0A8Q3WM02-1|CO3_HUMAN Computationally mapped isoform of Complement C3 OS=Homo sapiens OX=9606 GN=C3 PE=1 SV=1 CANONICAL=P01024-1" }, "locus": { "chromosome": "19", "start_pos": 6719354, "end_pos": 6686124, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695652.1", "url": "https://www.ensembl.org/id/ENST00000695652.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512083.1", "url": "https://www.ensembl.org/id/ENSP00000512083.1" } ] } }, { "isoform_ac": "M0QXZ3-1", "url": "", "sequence": { "sequence": "XFIQKSDDKVTLEERLDKACEPGVDYVYKTRLVKVQLSNDFDEYIMAIEQTIKSGSDEVQVGQQRTFISPIKCREALKLEEKKHYLMWGLSSDFWGEKPK", "length": 100, "header": "tr|M0QXZ3-1|CO3_HUMAN Computationally mapped isoform of Complement C3 OS=Homo sapiens OX=9606 GN=C3 PE=1 SV=1 CANONICAL=P01024-1" }, "locus": { "chromosome": "19", "start_pos": 6679201, "end_pos": 6678149, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000602229.1", "url": "https://www.ensembl.org/id/ENST00000602229.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000469482.1", "url": "https://www.ensembl.org/id/ENSP00000469482.1" } ] } }, { "isoform_ac": "M0QYC8-1", "url": "", "sequence": { "sequence": "ITHRIHWESASLLRSEETKENEGFTVTAEGKGQGTLSVVTMYHAKAKDQLTCNKFDLKVTIKPAPETGIPSPIFLSSVFLEKRPQDAKNTMILEICTRYRGDQDATMSILDISMMTGFAPDTDDLKQLANGVDRYISKYELDKAFSDRNTLIIYLDKVSHSEDDCLAFKVHQYFNVELIQPGAVKVYAYYNL", "length": 192, "header": "tr|M0QYC8-1|CO3_HUMAN Computationally mapped isoform of Complement C3 OS=Homo sapiens OX=9606 GN=C3 PE=1 SV=1 CANONICAL=P01024-1" }, "locus": { "chromosome": "19", "start_pos": 6685038, "end_pos": 6680159, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000596548.1", "url": "https://www.ensembl.org/id/ENST00000596548.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000469744.1", "url": "https://www.ensembl.org/id/ENSP00000469744.1" } ] } }, { "isoform_ac": "M0R0Q9-1", "url": "", "sequence": { "sequence": "NNEKDMALTAFVLISLQEAKDICEEQVNSLPGSITKAGDFLEANYMNLQRSYTVAIAGYALAQMGRLKGPLLNKFLTTAKDEENQKQCQDLGAFTESMVVF", "length": 101, "header": "tr|M0R0Q9-1|CO3_HUMAN Computationally mapped isoform of Complement C3 OS=Homo sapiens OX=9606 GN=C3 PE=1 SV=1 CANONICAL=P01024-1" }, "locus": { "chromosome": "19", "start_pos": 6690712, "end_pos": 6677897, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000601008.1", "url": "https://www.ensembl.org/id/ENST00000601008.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000471384.1", "url": "https://www.ensembl.org/id/ENSP00000471384.1" } ] } }, { "isoform_ac": "M0R1Q1-1", "url": "", "sequence": { "sequence": "MVLEAHDAQGDVPVTVTVHDFPGKKLVLSSEKTVLTPATNHMGNVTFTIPANREFKSEKGRNKFVTVQATFGTQVVEKVVLVSLQSGYLFIQTDKTIYTPGST", "length": 103, "header": "tr|M0R1Q1-1|M0R1Q1_HUMAN Computationally mapped isoform of Complement C3 OS=Homo sapiens OX=9606 GN=C3 PE=1 SV=1 CANONICAL=P01024-1" }, "locus": { "chromosome": "19", "start_pos": 6719354, "end_pos": 6718248, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000600744.1", "url": "https://www.ensembl.org/id/ENST00000600744.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000472044.1", "url": "https://www.ensembl.org/id/ENSP00000472044.1" } ] } }, { "isoform_ac": "P01024-1", "url": "", "sequence": { "sequence": "MGPTSGPSLLLLLLTHLPLALGSPMYSIITPNILRLESEETMVLEAHDAQGDVPVTVTVHDFPGKKLVLSSEKTVLTPATNHMGNVTFTIPANREFKSEKGRNKFVTVQATFGTQVVEKVVLVSLQSGYLFIQTDKTIYTPGSTVLYRIFTVNHKLLPVGRTVMVNIENPEGIPVKQDSLSSQNQLGVLPLSWDIPELVNMGQWKIRAYYENSPQQVFSTEFEVKEYVLPSFEVIVEPTEKFYYIYNEKGLEVTITARFLYGKKVEGTAFVIFGIQDGEQRISLPESLKRIPIEDGSGEVVLSRKVLLDGVQNPRAEDLVGKSLYVSATVILHSGSDMVQAERSGIPIVTSPYQIHFTKTPKYFKPGMPFDLMVFVTNPDGSPAYRVPVAVQGEDTVQSLTQGDGVAKLSINTHPSQKPLSITVRTKKQELSEAEQATRTMQALPYSTVGNSNNYLHLSVLRTELRPGETLNVNFLLRMDRAHEAKIRYYTYLIMNKGRLLKAGRQVREPGQDLVVLPLSITTDFIPSFRLVAYYTLIGASGQREVVADSVWVDVKDSCVGSLVVKSGQSEDRQPVPGQQMTLKIEGDHGARVVLVAVDKGVFVLNKKNKLTQSKIWDVVEKADIGCTPGSGKDYAGVFSDAGLTFTSSSGQQTAQRAELQCPQPAARRRRSVQLTEKRMDKVGKYPKELRKCCEDGMRENPMRFSCQRRTRFISLGEACKKVFLDCCNYITELRRQHARASHLGLARSNLDEDIIAEENIVSRSEFPESWLWNVEDLKEPPKNGISTKLMNIFLKDSITTWEILAVSMSDKKGICVADPFEVTVMQDFFIDLRLPYSVVRNEQVEIRAVLYNYRQNQELKVRVELLHNPAFCSLATTKRRHQQTVTIPPKSSLSVPYVIVPLKTGLQEVEVKAAVYHHFISDGVRKSLKVVPEGIRMNKTVAVRTLDPERLGREGVQKEDIPPADLSDQVPDTESETRILLQGTPVAQMTEDAVDAERLKHLIVTPSGCGEQNMIGMTPTVIAVHYLDETEQWEKFGLEKRQGALELIKKGYTQQLAFRQPSSAFAAFVKRAPSTWLTAYVVKVFSLAVNLIAIDSQVLCGAVKWLILEKQKPDGVFQEDAPVIHQEMIGGLRNNNEKDMALTAFVLISLQEAKDICEEQVNSLPGSITKAGDFLEANYMNLQRSYTVAIAGYALAQMGRLKGPLLNKFLTTAKDKNRWEDPGKQLYNVEATSYALLALLQLKDFDFVPPVVRWLNEQRYYGGGYGSTQATFMVFQALAQYQKDAPDHQELNLDVSLQLPSRSSKITHRIHWESASLLRSEETKENEGFTVTAEGKGQGTLSVVTMYHAKAKDQLTCNKFDLKVTIKPAPETEKRPQDAKNTMILEICTRYRGDQDATMSILDISMMTGFAPDTDDLKQLANGVDRYISKYELDKAFSDRNTLIIYLDKVSHSEDDCLAFKVHQYFNVELIQPGAVKVYAYYNLEESCTRFYHPEKEDGKLNKLCRDELCRCAEENCFIQKSDDKVTLEERLDKACEPGVDYVYKTRLVKVQLSNDFDEYIMAIEQTIKSGSDEVQVGQQRTFISPIKCREALKLEEKKHYLMWGLSSDFWGEKPNLSYIIGKDTWVEHWPEEDECQDEENQKQCQDLGAFTESMVVFGCPN", "length": 1663, "header": "sp|P01024-1|CO3_HUMAN Isoform 1 of Complement C3 OS=Homo sapiens OX=9606 GN=C3 PE=1 SV=2 CANONICAL=P01024-1" }, "locus": { "chromosome": "19", "start_pos": 6720589, "end_pos": 6677885, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000245907.11", "url": "https://www.ensembl.org/id/ENST00000245907.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000245907.4", "url": "https://www.ensembl.org/id/ENSP00000245907.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G69834CE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1617, "start_aa": "Asn", "end_pos": 1617, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1617", "evidence": [ { "id": "110", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/110" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G95678HJ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1617, "start_aa": "Asn", "end_pos": 1617, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1617", "evidence": [ { "id": "P01024", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1617, "start_aa": "Asn", "end_pos": 1617, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1617", "evidence": [ { "id": "P01024", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01024#ptm_processing" }, { "id": "16335952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" } ] }, { "glytoucan_ac": "G01650EU", 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Lipid Res.", "date": "1998", "authors": "Saleh J, Summers L K, Cianflone K, Fielding B A, Sniderman A D, Frayn K N", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "reference": [ { "type": "PubMed", "id": "9555951", "url": "https://glygen.org/publication/PubMed/9555951" } ] }, { "title": "Association of XK and Kell blood group proteins.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Russo D, Redman C, Lee S", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "9593744", "url": "https://glygen.org/publication/PubMed/9593744" } ] }, { "title": "X-ray crystal structure of C3d: a C3 fragment and ligand for complement receptor 2.", "journal": "Science", "date": "1998", "authors": "Nagar B, Jones R G, Diefenbach R J, Isenman D E, Rini J M", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "reference": [ { "type": "PubMed", "id": "9596584", "url": "https://glygen.org/publication/PubMed/9596584" } ] }, { "title": "A prolactin-releasing peptide in the brain.", "journal": "Nature", "date": "1998", "authors": "Hinuma S, Habata Y, Fujii R, Kawamata Y, Hosoya M, Fukusumi S, Kitada C, Masuo Y, Asano T, Matsumoto H, Sekiguchi M, Kurokawa T, Nishimura O, Onda H, Fujino M", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "9607765", "url": "https://glygen.org/publication/PubMed/9607765" } ] }, { "title": "Molecular characterization, pharmacological properties and chromosomal localization of the human GALR2 galanin receptor.", "journal": "Brain research. 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"https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "secretory granule lumen", "id": "GO:0034774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034774", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "blood microparticle", "id": "GO:0072562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072562", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "azurophil granule lumen", "id": "GO:0035578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035578", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 29, "go_terms": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "complement activation, classical pathway", "id": "GO:0006958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006958", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "complement receptor mediated signaling pathway", "id": "GO:0002430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002430", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "neuron remodeling", "id": "GO:0016322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016322", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "positive regulation of G protein-coupled receptor signaling pathway", "id": "GO:0045745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045745", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "positive regulation of vascular endothelial growth factor production", "id": "GO:0010575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010575", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "positive regulation of lipid storage", "id": "GO:0010884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010884", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "positive regulation of receptor-mediated endocytosis", "id": "GO:0048260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048260", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis, engulfment", "id": "GO:0060100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060100", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "complement-dependent cytotoxicity", "id": "GO:0097278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097278", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "complement activation", "id": "GO:0006956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006956", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "positive regulation of glucose transmembrane transport", "id": "GO:0010828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010828", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "complement activation, alternative pathway", "id": "GO:0006957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006957", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "positive regulation of apoptotic cell clearance", "id": "GO:2000427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000427", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "positive regulation of activation of membrane attack complex", "id": "GO:0001970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001970", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "oviduct epithelium development", "id": "GO:0035846", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035846", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "positive regulation of type IIa hypersensitivity", "id": "GO:0001798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001798", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "regulation of triglyceride biosynthetic process", "id": "GO:0010866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010866", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "amyloid-beta clearance", "id": "GO:0097242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097242", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "complement-mediated synapse pruning", "id": "GO:0150062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150062", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "vertebrate eye-specific patterning", "id": "GO:0150064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150064", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "endopeptidase inhibitor activity", "id": "GO:0004866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004866", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" }, { "name": "C5L2 anaphylatoxin chemotactic receptor binding", "id": "GO:0031715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031715", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "complement C3 N-glycosylated 1 (human)", "definition": "A complement C3 (human) that has been N-glycosylated at the residue equivalent to Asn-1617 of the amino acid sequence represented by UniProtKB:P01024-1, in which the glycan composition is represented by GlyTouCan:G95678HJ. Example: UniProtKB:P01024-1, Asn-1617, MOD:00160~GNO:G95678HJ. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051480", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051480" } ] }, { "name": "complement C3 N-glycosylated 2 (human)", "definition": "A complement C3 (human) that has been N-glycosylated at the residue equivalent to Asn-85 of the amino acid sequence represented by UniProtKB:P01024-1, in which the glycan composition is represented by GlyTouCan:G01650EU. Example: UniProtKB:P01024-1, Asn-85, MOD:00160~GNO:G01650EU. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051481", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051481" } ] }, { "name": "complement C3 N-glycosylated 3 (human)", "definition": "A complement C3 (human) that has been N-glycosylated at the residue equivalent to Asn-85 of the amino acid sequence represented by UniProtKB:P01024-1, in which the glycan composition is represented by GlyTouCan:G02815KT. Example: UniProtKB:P01024-1, Asn-85, MOD:00160~GNO:G02815KT. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051482", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051482" } ] }, { "name": "complement C3 N-glycosylated 4 (human)", "definition": "A complement C3 (human) that has been N-glycosylated at the residue equivalent to Asn-85 of the amino acid sequence represented by UniProtKB:P01024-1, in which the glycan composition is represented by GlyTouCan:G05428EU. Example: UniProtKB:P01024-1, Asn-85, MOD:00160~GNO:G05428EU. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051483", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051483" } ] }, { "name": "complement C3 N-glycosylated 5 (human)", "definition": "A complement C3 (human) that has been N-glycosylated at the residue equivalent to Asn-85 of the amino acid sequence represented by UniProtKB:P01024-1, in which the glycan structure is represented by GlyTouCan:G10471FG. Example: UniProtKB:P01024-1, Asn-85, MOD:00160~GNO:G10471FG. [PRO:DNx, PMID:24279413]", "evidence": [ { "id": "PR:000051484", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051484" } ] }, { "name": "complement C3 N-glycosylated 6 (human)", "definition": "A complement C3 (human) that has been N-glycosylated at the residue equivalent to Asn-85 of the amino acid sequence represented by UniProtKB:P01024-1, in which the glycan composition is represented by GlyTouCan:G11115RO. Example: UniProtKB:P01024-1, Asn-85, MOD:00160~GNO:G11115RO. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051485", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051485" } ] }, { "name": "complement C3 N-glycosylated 7 (human)", "definition": "A complement C3 (human) that has been N-glycosylated at the residue equivalent to Asn-85 of the amino acid sequence represented by UniProtKB:P01024-1, in which the glycan composition is represented by GlyTouCan:G31852PQ. Example: UniProtKB:P01024-1, Asn-85, MOD:00160~GNO:G31852PQ. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051486", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051486" } ] }, { "name": "complement C3 N-glycosylated 8 (human)", "definition": "A complement C3 (human) that has been N-glycosylated at the residue equivalent to Asn-85 of the amino acid sequence represented by UniProtKB:P01024-1, in which the glycan composition is represented by GlyTouCan:G37399XV. Example: UniProtKB:P01024-1, Asn-85, MOD:00160~GNO:G37399XV. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051487", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051487" } ] }, { "name": "complement C3 N-glycosylated 9 (human)", "definition": "A complement C3 (human) that has been N-glycosylated at the residue equivalent to Asn-85 of the amino acid sequence represented by UniProtKB:P01024-1, in which the glycan composition is represented by GlyTouCan:G39446WN. Example: UniProtKB:P01024-1, Asn-85, MOD:00160~GNO:G39446WN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051488", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051488" } ] }, { "name": "complement C3 N-glycosylated 10 (human)", "definition": "A complement C3 (human) that has been N-glycosylated at the residue equivalent to Asn-85 of the amino acid sequence represented by UniProtKB:P01024-1, in which the glycan composition is represented by GlyTouCan:G41247ZX. Example: UniProtKB:P01024-1, Asn-85, MOD:00160~GNO:G41247ZX. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051489", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051489" } ] }, { "name": "complement C3 N-glycosylated 11 (human)", "definition": "A complement C3 (human) that has been N-glycosylated at the residue equivalent to Asn-85 of the amino acid sequence represented by UniProtKB:P01024-1, in which the glycan structure is represented by GlyTouCan:G55220VL. Example: UniProtKB:P01024-1, Asn-85, MOD:00160~GNO:G55220VL. [PRO:DNx, PMID:4077844]", "evidence": [ { "id": "PR:000051490", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051490" } ] }, { "name": "complement C3 N-glycosylated 12 (human)", "definition": "A complement C3 (human) that has been N-glycosylated at the residue equivalent to Asn-85 of the amino acid sequence represented by UniProtKB:P01024-1, in which the glycan composition is represented by GlyTouCan:G57317CE. Example: UniProtKB:P01024-1, Asn-85, MOD:00160~GNO:G57317CE. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051491", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051491" } ] }, { "name": "complement C3 N-glycosylated 13 (human)", "definition": "A complement C3 (human) that has been N-glycosylated at the residue equivalent to Asn-85 of the amino acid sequence represented by UniProtKB:P01024-1, in which the glycan composition is represented by GlyTouCan:G57776ZU. Example: UniProtKB:P01024-1, Asn-85, MOD:00160~GNO:G57776ZU. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051492", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051492" } ] }, { "name": "complement C3 N-glycosylated 14 (human)", "definition": "A complement C3 (human) that has been N-glycosylated at the residue equivalent to Asn-85 of the amino acid sequence represented by UniProtKB:P01024-1, in which the glycan composition is represented by GlyTouCan:G59626AS. Example: UniProtKB:P01024-1, Asn-85, MOD:00160~GNO:G59626AS. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051493", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051493" } ] }, { "name": "complement C3 N-glycosylated 15 (human)", "definition": "A complement C3 (human) that has been N-glycosylated at the residue equivalent to Asn-85 of the amino acid sequence represented by UniProtKB:P01024-1, in which the glycan structure is represented by GlyTouCan:G61302NC. Example: UniProtKB:P01024-1, Asn-85, MOD:00160~GNO:G61302NC. [PRO:DNx, PMID:24279413]", "evidence": [ { "id": "PR:000051494", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051494" } ] }, { "name": "complement C3 N-glycosylated 16 (human)", "definition": "A complement C3 (human) that has been N-glycosylated at the residue equivalent to Asn-85 of the amino acid sequence represented by UniProtKB:P01024-1, in which the glycan composition is represented by GlyTouCan:G67324HN. Example: UniProtKB:P01024-1, Asn-85, MOD:00160~GNO:G67324HN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051495", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051495" } ] }, { "name": "complement C3 N-glycosylated 17 (human)", "definition": "A complement C3 (human) that has been N-glycosylated at the residue equivalent to Asn-85 of the amino acid sequence represented by UniProtKB:P01024-1, in which the glycan composition is represented by GlyTouCan:G92050GC. Example: UniProtKB:P01024-1, Asn-85, MOD:00160~GNO:G92050GC. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051496", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051496" } ] }, { "name": "complement C3 N-glycosylated 18 (human)", "definition": "A complement C3 (human) that has been N-glycosylated at the residue equivalent to Asn-85 of the amino acid sequence represented by UniProtKB:P01024-1, in which the glycan composition is represented by GlyTouCan:G99679NM. Example: UniProtKB:P01024-1, Asn-85, MOD:00160~GNO:G99679NM. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051497", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051497" } ] }, { "name": "complement C3 N-glycosylated 19 (human)", "definition": "A complement C3 (human) that has been N-glycosylated at the residue equivalent to Asn-939 of the amino acid sequence represented by UniProtKB:P01024-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P01024-1, Asn-939, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051498", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051498" } ] }, { "name": "complement C3 N-glycosylated 20 (human)", "definition": "A complement C3 (human) that has been N-glycosylated at the residue equivalent to Asn-939 of the amino acid sequence represented by UniProtKB:P01024-1, in which the glycan composition is represented by GlyTouCan:G41247ZX. Example: UniProtKB:P01024-1, Asn-939, MOD:00160~GNO:G41247ZX. [PRO:DNx, PMID:29741879]", "evidence": [ { "id": "PR:000051499", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051499" } ] }, { "name": "complement C3 O-glycosylated 1 (human)", "definition": "A complement C3 (human) that has been O-glycosylated at the residue equivalent to Thr-985 of the amino acid sequence represented by UniProtKB:P01024-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P01024-1, Thr-985, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000051500", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051500" } ] } ], "site_annotation": [ { "start_pos": 1617, "end_pos": 1619, "annotation": "n_glycosylation_sequon" }, { "start_pos": 85, "end_pos": 87, "annotation": "n_glycosylation_sequon" }, { "start_pos": 939, "end_pos": 941, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "(Microbial infection) C3 is cleaved by Staphylococcus aureus aureolysin; this cleavage renders C3a and C3b inactive. C3b is rapidly degraded by host factors CFH and CFI preventing its deposition on the bacterial surface while C3a is further inactivated by aureolysin.", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" }, { "database": "PubMed", "id": "21502375", "url": "https://glygen.org/publication/PubMed/21502375" } ] }, { "annotation": "(Microbial infection) Cleaved by N.meningitidis NalP between Leu-744 and Gly-754, generating a slightly shorter C3 alpha form and a slightly longer C3 beta form. The C3b-like fragment is degraded in the presence of the complement regulators CFH and CFI, preventing its deposition on the bacterial surface.", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" }, { "database": "PubMed", "id": "24367091", "url": "https://glygen.org/publication/PubMed/24367091" } ] }, { "annotation": "(Microbial infection) Complement C3 beta chain is cleaved and inactivated by S.pyogenes SpeB.", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" }, { "database": "PubMed", "id": "18160402", "url": "https://glygen.org/publication/PubMed/18160402" } ] }, { "annotation": "Phosphorylated by FAM20C in the extracellular medium.", "evidence": [ { "database": "UniProtKB", "id": "P01024", "url": "https://www.uniprot.org/uniprot/P01024" }, { "database": "PubMed", "id": "26091039", "url": "https://glygen.org/publication/PubMed/26091039" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [ { "assessed_biomarker_entity": "Complement 3A (C3)", "biomarker_id": "A0141", "evidence": [ { "id": "GLY_000625", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000625" }, { "id": "33123364", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33123364" }, { "id": "20012107", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20012107" } ], "instances": [ { "best_biomarker_type": "prognostic", "status": "increased C3 level", "disease": { "disease_id": "DOID:0080600", "recommended_name": { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infection that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2." }, "synonyms": [ { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "2019 Novel Coronavirus (2019-nCoV)", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "2019-nCoV infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "Wuhan coronavirus infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "Wuhan seafood market pneumonia virus infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "COVID19", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "SARS-CoV-2 infection", "description": "" } ] }, "tissue": { "name": "blood", "namespace": "UBERON", "id": "0000178", "url": "http://purl.obolibrary.org/obo/UBERON_0000178" }, "evidence": [ { "id": "GLY_000625", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000625" }, { "id": "33123364", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33123364" } ] }, { "best_biomarker_type": "diagnostic", "status": "increased C3 level", "disease": { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] }, "tissue": { "name": "blood", "namespace": "UBERON", "id": "0000178", "url": "http://purl.obolibrary.org/obo/UBERON_0000178" }, "evidence": [ { "id": "GLY_000625", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000625" }, { "id": "20012107", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20012107" } ] } ] } ], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 85, 939, 1617 ], "o_linked_sites": [ 985 ], "snv_sites": [ 83, 87, 135, 214, 348, 358, 731, 786, 822, 999, 1029, 1122, 1341, 1364, 1450, 1617, 1619, 1653 ], "glycation_sites": [], "phosphorylation_sites": [ 4, 8, 38, 70, 297, 303, 520, 672, 742, 968, 1031, 1321, 1571, 1573, 1586 ], "sequon_annotation_sites": [ { "start_pos": 1617, "end_pos": 1619 }, { "start_pos": 85, "end_pos": 87 }, { "start_pos": 939, "end_pos": 941 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 59 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 50 }, { "field": "n_linked_glycan_sites", "count": 7 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 56 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 50 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 15 }, { "field": "total_sites", "count": 15 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 19 }, { "field": "total_sites", "count": 18 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 13 }, { "field": "total_sites", "count": 13 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 390 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }