{ "uniprot_canonical_ac": "P07360-1", "uniprot_ac": "P07360", "uniprot_id": "CO8G_HUMAN", "mass": { "chemical_mass": 22277.0, "monoisotopic_mass": 22277.0 }, "refseq": { "ac": "NP_000597", "name": "complement component C8 gamma chain precursor", "summary": "The protein encoded by this gene belongs to the lipocalin family. It is one of the three subunits that constitutes complement component 8 (C8), which is composed of a disulfide-linked C8 alpha-gamma heterodimer and a non-covalently associated C8 beta chain. C8 participates in the formation of the membrane attack complex (MAC) on bacterial cell membranes. While subunits alpha and beta play a role in complement-mediated bacterial killing, the gamma subunit is not required for the bactericidal activity. [provided by RefSeq, Jul 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000597" }, "gene_names": [ { "name": "C8G", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P07360", "id": "P07360" }, { "name": "C8C", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000597", "id": "NP_000597" }, { "name": "C8G", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000597", "id": "NP_000597" } ], "protein_names": [ { "name": "Complement component C8 gamma chain", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P07360" }, { "name": "complement component C8 gamma chain precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000597", "id": "NP_000597" }, { "name": "complement component C8 gamma chain; complement component 8, gamma polypeptide", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000597", "id": "NP_000597" } ], "function": [ { "annotation": "C8 is a constituent of the membrane attack complex. C8 binds to the C5B-7 complex, forming the C5B-8 complex. C5-B8 binds C9 and acts as a catalyst in the polymerization of C9. The gamma subunit seems to be able to bind retinol.", "evidence": [ { "database": "UniProtKB", "id": "P07360", "url": "https://www.uniprot.org/uniprot/P07360#function" } ] }, { "annotation": "Elevated complement component 8 gamma levels in astrocyte-derived exosomes are associated with cognitive impairment in obstructive sleep apnea patients without dementia.", "evidence": [ { "database": "RefSeq", "id": "NP_000597", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000597" }, { "database": "PubMed", "id": "36509166", "url": "https://glygen.org/publication/PubMed/36509166" } ] }, { "annotation": "The protein encoded by this gene belongs to the lipocalin family. It is one of the three subunits that constitutes complement component 8 (C8), which is composed of a disulfide-linked C8 alpha-gamma heterodimer and a non-covalently associated C8 beta chain. C8 participates in the formation of the membrane attack complex (MAC) on bacterial cell membranes. While subunits alpha and beta play a role in complement-mediated bacterial killing, the gamma subunit is not required for the bactericidal activity. [provided by RefSeq, Jul 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_000597", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000597" } ] }, { "annotation": "These data provide a detailed specification of co-occurring C8 proteoforms, including experimental evidence on N-glycosylation, C-mannosylation, and O-glycosylation.", "evidence": [ { "database": "RefSeq", "id": "NP_000597", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000597" }, { "database": "PubMed", "id": "29532326", "url": "https://glygen.org/publication/PubMed/29532326" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "P07360", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P07360" } ], "glycoeffect": [], "start_pos": 120, "end_pos": 120, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "9", "chr_pos": "136946097", 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} ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "55.27", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000176919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176919" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "69.18", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000176919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176919" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000176919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176919" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P07360", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07360" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07360" } ], "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": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"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": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", 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Two active sites are required for dissociating C5 convertases.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Krych-Goldberg M, Hauhart RE, Subramanian VB, Yurcisin BM 2nd, Crimmins DL, Hourcade DE, Atkinson JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "10531307", "url": "https://glygen.org/publication/PubMed/10531307" } ] }, { "title": "Control of the amplification convertase of complement by the plasma protein beta1H.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1976", "authors": "Weiler JM, Daha MR, Austen KF, Fearon DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "1067618", "url": "https://glygen.org/publication/PubMed/1067618" } ] }, { "title": "Human complement protein C8 gamma.", "journal": "Biochim. Biophys. 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Requirements for factor H vs CR1 cofactor activity.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1982", "authors": "Ross GD, Lambris JD, Cain JA, Newman SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "6214588", "url": "https://glygen.org/publication/PubMed/6214588" } ] }, { "title": "Kinetic and thermodynamic analysis of the control of C3b by the complement regulatory proteins factors H and I.", "journal": "Biochemistry", "date": "1983", "authors": "Pangburn MK, Muller-Eberhard HJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "6219696", "url": "https://glygen.org/publication/PubMed/6219696" } ] }, { "title": "Visualization of human C4b-binding protein and its complexes with vitamin K-dependent protein S and complement protein C4b.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1983", "authors": "Dahlback B, Smith CA, Muller-Eberhard HJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "6222381", "url": "https://glygen.org/publication/PubMed/6222381" } ] }, { "title": "Identification of a 145,000 Mr membrane protein as the C3d receptor (CR2) of human B lymphocytes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1984", "authors": "Weis JJ, Tedder TF, Fearon DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "6230668", "url": "https://glygen.org/publication/PubMed/6230668" } ] }, { "title": "Inhibition of complement activation on the surface of cells after incorporation of decay-accelerating factor (DAF) into their membranes.", "journal": "The Journal of experimental medicine", "date": "1984", "authors": "Medof ME, Kinoshita T, Nussenzweig V", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "6238120", "url": "https://glygen.org/publication/PubMed/6238120" } ] }, { "title": "Characterization of the interaction of human C4b-binding protein with physiological ligands.", "journal": "The Journal of biological chemistry", "date": "1984", "authors": "Ziccardi RJ, Dahlback B, Muller-Eberhard HJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "6334079", "url": "https://glygen.org/publication/PubMed/6334079" } ] }, { "title": "High molecular weight complex in human plasma between vitamin K-dependent protein S and complement component C4b-binding protein.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1981", "authors": "Dahlback B, Stenflo J", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "6454142", "url": "https://glygen.org/publication/PubMed/6454142" } ] }, { "title": "Physiologic inactivation of fluid phase C3b: isolation and structural analysis of C3c, C3d,g (alpha 2D), and C3g.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1984", "authors": "Davis AE 3rd, Harrison RA, Lachmann PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "6607952", "url": "https://glygen.org/publication/PubMed/6607952" } ] }, { "title": "Human C4-binding protein. 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