{ "uniprot_canonical_ac": "A0A0C4DH32-1", "ptm_annotation": [], "sequence": { "header": "sp|A0A0C4DH32-1|HV320_HUMAN Isoform 1 of Immunoglobulin heavy variable 3-20 OS=Homo sapiens OX=9606 GN=IGHV3-20 PE=3 SV=2 CANONICAL=A0A0C4DH32-1", "length": 117, "sequence": "MEFGLSWVFLVAILKGVQCEVQLVESGGGVVRPGGSLRLSCAASGFTFDDYGMSWVRQAPGKGLEWVSGINWNGGSTGYADSVKGRFTISRDNAKNSLYLQMNSLRAEDTALYHCAR" }, "uniprot_id": "HV320_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH32", "id": "A0A0C4DH32", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/11340299", "type": [ "PubMed" ], "id": "11340299" } ], "title": "Nomenclature of the human immunoglobulin heavy (IGH) genes.", "journal": "Exp. Clin. Immunogenet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH32", "id": "A0A0C4DH32", "database": "UniProtKB" } ], "authors": "Lefranc M.P.", "date": "2001" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17576170", "type": [ "PubMed" ], "id": "17576170" } ], "title": "Immunoglobulin somatic hypermutation.", "journal": "Annu. Rev. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH32", "id": "A0A0C4DH32", "database": "UniProtKB" } ], "authors": "Teng G., Papavasiliou F.N.", "date": "2007" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20176268", "type": [ "PubMed" ], "id": "20176268" } ], "title": "Structure and function of immunoglobulins.", "journal": "J. Allergy Clin. Immunol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH32", "id": "A0A0C4DH32", "database": "UniProtKB" } ], "authors": "Cavacini L., Schroeder H.W. Jr.", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22158414", "type": [ "PubMed" ], "id": "22158414" } ], "title": "Molecular programming of B cell memory.", "journal": "Nat. Rev. Immunol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH32", "id": "A0A0C4DH32", "database": "UniProtKB" } ], "authors": "Wang N., McHeyzer-Williams L., McHeyzer-Williams M., Okitsu S.", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24600447", "type": [ "PubMed" ], "id": "24600447" } ], "title": "Immunoglobulin and T Cell Receptor Genes: IMGT((R)) and the Birth and Rise of Immunoinformatics.", "journal": "Front. Immunol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH32", "id": "A0A0C4DH32", "database": "UniProtKB" } ], "authors": "Lefranc M.P.", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/8490662", "type": [ "PubMed" ], "id": "8490662" } ], "title": "Structure and physical map of 64 variable segments in the 3'0.8-megabase region of the human immunoglobulin heavy-chain locus.", "journal": "Nat. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH32", "id": "A0A0C4DH32", "database": "UniProtKB" } ], "authors": "Anand R., Matsuda F., Riley J.H., Nagaoka H., Imai T., Haino M., Fukita Y., Matsumura R., Shin E.K., Taka-ishi S.", "date": "1993" } ], "uniprot_ac": "A0A0C4DH32", "site_annotation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH32#A0A0C4DH32-1", "isoform_ac": "A0A0C4DH32-1", "locus": {}, "sequence": { "header": "sp|A0A0C4DH32-1|HV320_HUMAN Isoform 1 of Immunoglobulin heavy variable 3-20 OS=Homo sapiens OX=9606 GN=IGHV3-20 PE=3 SV=2 CANONICAL=A0A0C4DH32-1", "length": 117, "sequence": "MEFGLSWVFLVAILKGVQCEVQLVESGGGVVRPGGSLRLSCAASGFTFDDYGMSWVRQAPGKGLEWVSGINWNGGSTGYADSVKGRFTISRDNAKNSLYLQMNSLRAEDTALYHCAR" } } ], "pathway": [], "function": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH32#function", "annotation": "V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH32#function", "id": "A0A0C4DH32", "database": "UniProtKB" } ] } ], "orthologs": [], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "S", "start_pos": 40, "alt_nt": "T", "chr_id": "14", "ref_nt": "G", "chr_pos": "106667813", "disease": [ { "synonyms": [], "recommended_name": { "id": "DOID:1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0A0C4DH32", "id": "A0A0C4DH32", "database": "BioMuta" } ], "glycoeffect": [ "o-glyco-site-loss" ], "frequency": "1.1", "sequence_mut": "Y", "subjects_tested": "1514", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 2 out of 6 filters: patient freq. (1.1%); patient count (16/1514).", "end_pos": 40, "minor_allelic_frequency": "", "subjects_positive": "16" }, { "sequence_org": "N", "start_pos": 103, "alt_nt": "G", "chr_id": "14", "ref_nt": "T", "chr_pos": "106667625", "disease": [ { "synonyms": [ { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "tumor of the Ovary", "description": "" } ], "recommended_name": { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0A0C4DH32", "id": "A0A0C4DH32", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.1", "sequence_mut": "H", "subjects_tested": "93", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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"gene": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH32", "name": "IGHV3-20", "locus": { "end_pos": 106210936, "strand": "-", "start_pos": 106211453, "chromosome": "14", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000211946", "id": "ENSG00000211946", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH32#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "Immunoglobulin heavy variable 3-20" } ] }