{ "uniprot_canonical_ac": "P0DTW3-1", "uniprot_ac": "P0DTW3", "uniprot_id": "HV384_HUMAN", "mass": { "chemical_mass": 13137.0, "monoisotopic_mass": 13137.0 }, "refseq": {}, "gene_names": [ { "name": "IGHV1-38-4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0DTW3", "id": "P0DTW3" }, { "name": "IGHV1-C", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0DTW3", "id": "P0DTW3" } ], "protein_names": [ { "name": "Probable non-functional immunoglobulin heavy variable 1-38-4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P0DTW3" } ], "function": [ { "annotation": "Probable non-functional open reading frame (ORF) of V region of the variable domain of immunoglobulin heavy chains (PubMed:24600447). Non-functional ORF generally cannot participate in the synthesis of a productive immunoglobulin chain due to altered V-(D)-J or switch recombination and/or splicing site (at mRNA level) and/or conserved amino acid change (protein level) (PubMed:9619395). 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": [ { "database": "UniProtKB", "id": "P0DTW3", "url": "https://www.uniprot.org/uniprot/P0DTW3#function" }, { "database": "PubMed", "id": "20176268", "url": "https://glygen.org/publication/PubMed/20176268" }, { "database": "PubMed", "id": "9619395", "url": "https://glygen.org/publication/PubMed/9619395" }, { "database": "PubMed", "id": "22158414", "url": "https://glygen.org/publication/PubMed/22158414" }, { "database": "PubMed", "id": "17576170", "url": "https://glygen.org/publication/PubMed/17576170" }, { "database": "PubMed", "id": "24600447", "url": "https://glygen.org/publication/PubMed/24600447" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P0DTW3", "url": "https://www.uniprot.org/uniprot/P0DTW3" } ], "common_name": "Human" } ], "gene": [ { "name": "IGHV1-38-4", "url": "https://www.uniprot.org/uniprot/P0DTW3", "locus": {} } ], "crossref": [ { "id": "IGHV1-38-4", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGHV1-38-4", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "5560", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5560", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "IPR013106", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013106", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036179", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036179", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "NX_P0DTW3", "url": "https://www.nextprot.org/entry/NX_P0DTW3", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "PTHR23266", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23266", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR23266:SF297", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23266:SF297", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF07686", "url": "http://pfam.xfam.org/family/PF07686", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P0DTW3", "url": "http://purl.obolibrary.org/obo/PR_P0DTW3", "database": "PRO", "categories": [ "Protein" ] }, { "id": "P0DTW3", "url": "https://www.uniprot.org/uniprot/P0DTW3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P0DTW3-1", "url": "https://www.uniprot.org/uniprot/P0DTW3-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDWNWRILFLVVATTGAHSQVQLVQSWAEVRKSGASVKVSCSFSGFTITSYGIHWVQQSPGQGLEWMGWINPGNGSPSYAKKFQGRFTMTRDMSTTTAYTDLSSLTSEDMAVYYYAR", "length": 117, "header": "sp|P0DTW3-1|HV384_HUMAN Isoform 1 of Probable non-functional immunoglobulin heavy variable 1-38-4 OS=Homo sapiens OX=9606 GN=IGHV1-38-4 PE=1 SV=1 CANONICAL=P0DTW3-1" }, "isoforms": [ { "isoform_ac": "P0DTW3-1", "url": "", "sequence": { "sequence": "MDWNWRILFLVVATTGAHSQVQLVQSWAEVRKSGASVKVSCSFSGFTITSYGIHWVQQSPGQGLEWMGWINPGNGSPSYAKKFQGRFTMTRDMSTTTAYTDLSSLTSEDMAVYYYAR", "length": 117, "header": "sp|P0DTW3-1|HV384_HUMAN Isoform 1 of Probable non-functional immunoglobulin heavy variable 1-38-4 OS=Homo sapiens OX=9606 GN=IGHV1-38-4 PE=1 SV=1 CANONICAL=P0DTW3-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 74, "start_aa": "Asn", "end_pos": 74, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn74", "evidence": [ { "id": "P0DTW3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DTW3#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Nomenclature of the human immunoglobulin heavy (IGH) genes.", "journal": "Exp. Clin. Immunogenet.", "date": "2001", "authors": "Lefranc M P", "evidence": [ { "database": "UniProtKB", "id": "P0DTW3", "url": "https://www.uniprot.org/uniprot/P0DTW3" } ], "reference": [ { "type": "PubMed", "id": "11340299", "url": "https://glygen.org/publication/PubMed/11340299" } ] }, { "title": "Immunoglobulin somatic hypermutation.", "journal": "Annual review of genetics", "date": "2007", "authors": "Teng Grace, Papavasiliou F Nina", "evidence": [ { "database": "UniProtKB", "id": "P0DTW3", "url": "https://www.uniprot.org/uniprot/P0DTW3" } ], "reference": [ { "type": "PubMed", "id": "17576170", "url": "https://glygen.org/publication/PubMed/17576170" } ] }, { "title": "Structure and function of immunoglobulins.", "journal": "The Journal of allergy and clinical immunology", "date": "2010-02", "authors": "Schroeder Harry W, Cavacini Lisa", "evidence": [ { "database": "UniProtKB", "id": "P0DTW3", "url": "https://www.uniprot.org/uniprot/P0DTW3" } ], "reference": [ { "type": "PubMed", "id": "20176268", "url": "https://glygen.org/publication/PubMed/20176268" } ] }, { "title": "Molecular programming of B cell memory.", "journal": "Nature reviews. Immunology", "date": "2011-12-09", "authors": "McHeyzer-Williams Michael, Okitsu Shinji, Wang Nathaniel, McHeyzer-Williams Louise", "evidence": [ { "database": "UniProtKB", "id": "P0DTW3", "url": "https://www.uniprot.org/uniprot/P0DTW3" } ], "reference": [ { "type": "PubMed", "id": "22158414", "url": "https://glygen.org/publication/PubMed/22158414" } ] }, { "title": "Complete haplotype sequence of the human immunoglobulin heavy-chain variable, diversity, and joining genes and characterization of allelic and copy-number variation.", "journal": "Am. J. Hum. Genet.", "date": "2013", "authors": "Watson Corey T, Steinberg Karyn M, Huddleston John, Warren Rene L, Malig Maika, Schein Jacqueline, Willsey A Jeremy, Joy Jeffrey B, Scott Jamie K, Graves Tina A, Wilson Richard K, Holt Robert A, Eichler Evan E, Breden Felix", "evidence": [ { "database": "UniProtKB", "id": "P0DTW3", "url": "https://www.uniprot.org/uniprot/P0DTW3" } ], "reference": [ { "type": "PubMed", "id": "23541343", "url": "https://glygen.org/publication/PubMed/23541343" } ] }, { "title": "Immunoglobulin and T Cell Receptor Genes: IMGT(\u00ae) and the Birth and Rise of Immunoinformatics.", "journal": "Frontiers in immunology", "date": "2014", "authors": "Lefranc Marie-Paule", "evidence": [ { "database": "UniProtKB", "id": "P0DTW3", "url": "https://www.uniprot.org/uniprot/P0DTW3" } ], "reference": [ { "type": "PubMed", "id": "24600447", "url": "https://glygen.org/publication/PubMed/24600447" } ] }, { "title": "IMGT (ImMunoGeneTics) locus on focus. A new section of Experimental and Clinical Immunogenetics.", "journal": "Experimental and clinical immunogenetics", "date": "1998", "authors": "Lefranc M P", "evidence": [ { "database": "UniProtKB", "id": "P0DTW3", "url": "https://www.uniprot.org/uniprot/P0DTW3" } ], "reference": [ { "type": "PubMed", "id": "9619395", "url": "https://glygen.org/publication/PubMed/9619395" } ] } ], "pathway": [], "orthologs": [], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P0DTW3", "url": "https://www.uniprot.org/uniprot/P0DTW3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P0DTW3", "url": "https://www.uniprot.org/uniprot/P0DTW3" } ], "pmid": "" }, { "name": "immunoglobulin 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