{ "uniprot_canonical_ac": "A0A0A0MS14-1", "sequence": { "header": "sp|A0A0A0MS14-1|HV145_HUMAN Isoform 1 of Immunoglobulin heavy variable 1-45 OS=Homo sapiens OX=9606 GN=IGHV1-45 PE=3 SV=1 CANONICAL=A0A0A0MS14-1", "length": 117, "sequence": "MDWTWRILFLVAAVTDAYSQMQLVQSGAEVKKTGSSVKVSCKASGYTFTYRYLHWVRQAPGQALEWMGWITPFNGNTNYAQKFQDRVTITRDRSMSTAYMELSSLRSEDTAMYYCAR" }, "uniprot_id": "HV145_HUMAN", "enzyme_annotation": [], "synonyms": { "protein": { "refseq": [], "uniprotkb": [ "Immunoglobulin heavy variable 1-45" ] }, "gene": { "refseq": [], "uniprotkb": [ "IGHV1-45" ] } }, "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0A0MS14", "id": "A0A0A0MS14", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "Immunoglobulin heavy variable 1-45." }, "publication": [ { "title": "Immunoglobulin and T Cell Receptor Genes: IMGT((R)) and the Birth and Rise of Immunoinformatics.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/24600447", "journal": "Front. Immunol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0A0MS14/publications", "id": "A0A0A0MS14", "database": "UniProtKB" } ], "authors": "Lefranc M.P.", "date": "2014", "pmid": "24600447" }, { "title": "Molecular programming of B cell memory.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/22158414", "journal": "Nat. Rev. Immunol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0A0MS14/publications", "id": "A0A0A0MS14", "database": "UniProtKB" } ], "authors": "Wang N., McHeyzer-Williams L., McHeyzer-Williams M., Okitsu S.", "date": "2012", "pmid": "22158414" }, { "title": "Structure and function of immunoglobulins.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/20176268", "journal": "J. Allergy Clin. Immunol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0A0MS14/publications", "id": "A0A0A0MS14", "database": "UniProtKB" } ], "authors": "Cavacini L., Schroeder H.W. Jr.", "date": "2010", "pmid": "20176268" }, { "title": "Immunoglobulin somatic hypermutation.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/17576170", "journal": "Annu. Rev. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0A0MS14/publications", "id": "A0A0A0MS14", "database": "UniProtKB" } ], "authors": "Teng G., Papavasiliou F.N.", "date": "2007", "pmid": "17576170" }, { "title": "Nomenclature of the human immunoglobulin heavy (IGH) genes.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/11340299", "journal": "Exp. Clin. Immunogenet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0A0MS14/publications", "id": "A0A0A0MS14", "database": "UniProtKB" } ], "authors": "Lefranc M.P.", "date": "2001", "pmid": "11340299" } ], "glycosylation": [], "mutation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0A0A0MS14#A0A0A0MS14-1", "isoform_ac": "A0A0A0MS14-1", "locus": { "end_pos": 106531679, "start_pos": 106532114, "chromosome": "14", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000631826", "id": "ENST00000631826", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000488436", "id": "ENSP00000488436", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0A0A0MS14-1|HV145_HUMAN Isoform 1 of Immunoglobulin heavy variable 1-45 OS=Homo sapiens OX=9606 GN=IGHV1-45 PE=3 SV=1 CANONICAL=A0A0A0MS14-1", "length": 117, "sequence": "MDWTWRILFLVAAVTDAYSQMQLVQSGAEVKKTGSSVKVSCKASGYTFTYRYLHWVRQAPGQALEWMGWITPFNGNTNYAQKFQDRVTITRDRSMSTAYMELSSLRSEDTAMYYCAR" } } ], "pathway": [], "function": [ { "url": "https://www.uniprot.org/uniprot/A0A0A0MS14#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/A0A0A0MS14#function", "id": "A0A0A0MS14", "database": "UniProtKB" } ] } ], "orthologs": [], "refseq": { "url": "", "ac": "", "name": "", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034987", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0A0MS14", "id": "A0A0A0MS14", "database": "UniProtKB" } ], "name": "immunoglobulin receptor binding", "id": "GO:0034987" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003823", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0A0MS14", "id": "A0A0A0MS14", "database": "UniProtKB" } ], "name": "antigen binding", "id": "GO:0003823" } ], "total": 2, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0A0MS14", "id": "A0A0A0MS14", "database": "UniProtKB" } ], "name": "external side of plasma membrane", "id": "GO:0009897" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042571", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0A0MS14", "id": "A0A0A0MS14", "database": "UniProtKB" } ], "name": "immunoglobulin complex, circulating", "id": "GO:0042571" } ], "total": 2, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006911", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0A0MS14", "id": "A0A0A0MS14", "database": "UniProtKB" } ], "name": "phagocytosis, engulfment", "id": "GO:0006911" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0A0MS14", "id": "A0A0A0MS14", "database": "UniProtKB" } ], "name": "innate immune response", "id": "GO:0045087" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050853", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0A0MS14", "id": "A0A0A0MS14", "database": "UniProtKB" } ], "name": "B cell receptor signaling pathway", "id": "GO:0050853" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0A0MS14", "id": "A0A0A0MS14", "database": "UniProtKB" } ], "name": "defense response to bacterium", "id": "GO:0042742" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006910", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0A0MS14", "id": "A0A0A0MS14", "database": "UniProtKB" } ], "name": "phagocytosis, recognition", "id": "GO:0006910" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050871", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0A0MS14", "id": "A0A0A0MS14", "database": "UniProtKB" } ], "name": "positive regulation of B cell activation", "id": "GO:0050871" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006958", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0A0MS14", "id": "A0A0A0MS14", "database": "UniProtKB" } ], "name": "complement activation, classical pathway", "id": "GO:0006958" } ], "total": 7, "name": "Biological Process" } ] }, "site_annotation": [], "crossref": [ { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5553", "id": "5553", "database": "HGNC" }, { "url": "https://pharos.nih.gov/targets/A0A0A0MS14", "id": "A0A0A0MS14", "database": "PHAROS" }, { "url": "https://www.nextprot.org/entry/NX_A0A0A0MS14", "id": "NX_A0A0A0MS14", "database": "neXtProt" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGHV1-45", "id": "IGHV1-45", "database": "GeneCards" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000211961", "id": "ENSG00000211961", "database": "Bgee" }, { "url": "https://omabrowser.org/oma/group/FCARERY/", "id": 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"url": "https://www.ensembl.org/id/ENSG00000211961", "id": "ENSG00000211961", "database": "Ensembl Gene" } ] } } ] }