{ "uniprot_canonical_ac": "A0A0C4DH25-1", "sequence": { "header": "sp|A0A0C4DH25-1|KVD20_HUMAN Isoform 1 of Immunoglobulin kappa variable 3D-20 OS=Homo sapiens OX=9606 GN=IGKV3D-20 PE=3 SV=1 CANONICAL=A0A0C4DH25-1", "length": 116, "sequence": "METPAQLLFLLLLWLPDTTGEIVLTQSPATLSLSPGERATLSCGASQSVSSSYLAWYQQKPGLAPRLLIYDASSRATGIPDRFSGSGSGTDFTLTISRLEPEDFAVYYCQQYGSSP" }, "uniprot_id": "KVD20_HUMAN", "enzyme_annotation": [], "synonyms": { "protein": { "refseq": [], "uniprotkb": [ "Immunoglobulin kappa variable 3D-20" ] }, "gene": { "refseq": [], "uniprotkb": [ "IGKV3D-20" ] } }, "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH25", "id": "A0A0C4DH25", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "Immunoglobulin kappa variable 3D-20." }, "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/A0A0C4DH25/publications", "id": "A0A0C4DH25", "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/A0A0C4DH25/publications", "id": "A0A0C4DH25", "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/A0A0C4DH25/publications", "id": "A0A0C4DH25", "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/A0A0C4DH25/publications", "id": "A0A0C4DH25", "database": "UniProtKB" } ], "authors": "Teng G., Papavasiliou F.N.", "date": "2007", "pmid": "17576170" }, { "title": "Nomenclature of the human immunoglobulin kappa (IGK) genes.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/11549845", "journal": "Exp. Clin. Immunogenet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH25/publications", "id": "A0A0C4DH25", "database": "UniProtKB" } ], "authors": "Lefranc M.P.", "date": "2001", "pmid": "11549845" } ], "glycosylation": [], "mutation": [ { "start_pos": 81, "subjects_positive": "30", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0A0C4DH25", "id": "A0A0C4DH25", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (2/5): patient freq. (2.0%); patient count (30/1514).", "sequence_org": "D", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "Y", "subjects_tested": "1514", "end_pos": 81, "type": "Point mutation" }, { "start_pos": 89, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0A0C4DH25", "id": "A0A0C4DH25", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "G", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "V", "subjects_tested": "50", "end_pos": 89, "type": "Point mutation" }, { "start_pos": 49, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0A0C4DH25", "id": "A0A0C4DH25", "database": "BioMuta" } ], "frequency": "1.4", "annotation": "Filters passed (1/5): patient freq. (1.4%).", "sequence_org": "V", "disease": { "doid": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "icd10": "", "name": "Breast cancer" }, "sequence_mut": "I", "subjects_tested": "72", "end_pos": 49, "type": "Point mutation" }, { "start_pos": 1, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0A0C4DH25", "id": "A0A0C4DH25", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "M", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "I", "subjects_tested": "50", "end_pos": 1, "type": "Point mutation" }, { "start_pos": 105, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0A0C4DH25", "id": "A0A0C4DH25", "database": "BioMuta" } ], "frequency": "1.1", "annotation": "Filters passed (1/5): patient freq. (1.1%).", "sequence_org": "A", "disease": { "doid": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "icd10": "", "name": "Ovarian cancer" }, "sequence_mut": "S", "subjects_tested": "93", "end_pos": 105, "type": "Point mutation" }, { "start_pos": 37, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0A0C4DH25", "id": "A0A0C4DH25", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "E", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "V", "subjects_tested": "50", "end_pos": 37, "type": "Point mutation" }, { "start_pos": 48, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0A0C4DH25", "id": "A0A0C4DH25", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "S", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "G", "subjects_tested": "50", "end_pos": 48, "type": "Point mutation" }, { "start_pos": 6, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0A0C4DH25", "id": "A0A0C4DH25", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "Q", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "*", "subjects_tested": "50", "end_pos": 6, "type": "Point mutation" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH25#A0A0C4DH25-1", "isoform_ac": "A0A0C4DH25-1", "locus": { "end_pos": 90038945, "start_pos": 90039479, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000390270", "id": "ENST00000390270", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000374805", "id": "ENSP00000374805", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0A0C4DH25-1|KVD20_HUMAN Isoform 1 of Immunoglobulin kappa variable 3D-20 OS=Homo sapiens OX=9606 GN=IGKV3D-20 PE=3 SV=1 CANONICAL=A0A0C4DH25-1", "length": 116, "sequence": "METPAQLLFLLLLWLPDTTGEIVLTQSPATLSLSPGERATLSCGASQSVSSSYLAWYQQKPGLAPRLLIYDASSRATGIPDRFSGSGSGTDFTLTISRLEPEDFAVYYCQQYGSSP" } } ], "pathway": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166663", "resource": "Reactome", "id": "R-HSA-166663", "name": "Initial triggering of complement" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-173623", "resource": "Reactome", "id": "R-HSA-173623", "name": "Classical antibody-mediated complement activation" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2168880", "resource": "Reactome", "id": "R-HSA-2168880", "name": "Scavenging of heme from plasma" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606", "resource": "Reactome", "id": "R-HSA-977606", "name": "Regulation of Complement cascade" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2029482", "resource": "Reactome", "id": "R-HSA-2029482", "name": "Regulation of actin dynamics for phagocytic cup formation" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2029481", "resource": "Reactome", "id": "R-HSA-2029481", "name": "FCGR activation" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733", "resource": "Reactome", "id": "R-HSA-202733", "name": "Cell surface interactions at the vascular wall" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983695", "resource": "Reactome", "id": "R-HSA-983695", "name": "Antigen activates B Cell Receptor (BCR) leading to generation of second messengers" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2029485", "resource": "Reactome", "id": "R-HSA-2029485", "name": "Role of phospholipids in phagocytosis" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2454202", "resource": "Reactome", "id": "R-HSA-2454202", "name": "Fc epsilon receptor (FCERI) signaling" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2730905", "resource": "Reactome", "id": "R-HSA-2730905", "name": "Role of LAT2/NTAL/LAB on calcium mobilization" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2871796", "resource": "Reactome", "id": "R-HSA-2871796", "name": "FCERI mediated MAPK activation" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2871809", "resource": "Reactome", "id": "R-HSA-2871809", "name": "FCERI mediated Ca+2 mobilization" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2871837", "resource": "Reactome", "id": "R-HSA-2871837", "name": "FCERI mediated NF-kB activation" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5690714", "resource": "Reactome", "id": "R-HSA-5690714", "name": "CD22 mediated BCR regulation" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933", "resource": "Reactome", "id": "R-HSA-198933", "name": "Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH25#function", "annotation": "V region of the variable domain of immunoglobulin light 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:20176268, PubMed:22158414). 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/A0A0C4DH25#function", "id": "A0A0C4DH25", "database": "UniProtKB" } ] } ], "orthologs": [], "refseq": { "url": "", "ac": "", "name": "", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH25", "id": "A0A0C4DH25", "database": "UniProtKB" } ], "name": "extracellular space", "id": "GO:0005615" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH25", "id": "A0A0C4DH25", "database": "UniProtKB" } ], "name": "extracellular region", "id": "GO:0005576" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH25", "id": "A0A0C4DH25", "database": "UniProtKB" } ], "name": "plasma membrane", "id": "GO:0005886" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019814", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH25", "id": "A0A0C4DH25", "database": "UniProtKB" } ], "name": "immunoglobulin complex", "id": "GO:0019814" } ], "total": 4, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH25", "id": "A0A0C4DH25", "database": "UniProtKB" } ], "name": "immune response", "id": "GO:0006955" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002377", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH25", "id": "A0A0C4DH25", "database": "UniProtKB" } ], "name": "immunoglobulin production", "id": "GO:0002377" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050776", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH25", "id": "A0A0C4DH25", "database": "UniProtKB" } ], "name": "regulation of immune response", "id": "GO:0050776" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038096", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH25", "id": "A0A0C4DH25", "database": "UniProtKB" } ], "name": "Fc-gamma receptor signaling pathway involved in phagocytosis", "id": "GO:0038096" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050900", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH25", "id": "A0A0C4DH25", "database": "UniProtKB" } ], "name": "leukocyte migration", "id": "GO:0050900" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH25", "id": "A0A0C4DH25", "database": "UniProtKB" } ], "name": "receptor-mediated endocytosis", "id": "GO:0006898" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038095", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH25", "id": "A0A0C4DH25", "database": "UniProtKB" } ], "name": "Fc-epsilon receptor signaling pathway", "id": "GO:0038095" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006958", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH25", "id": "A0A0C4DH25", "database": "UniProtKB" } ], "name": "complement activation, classical pathway", "id": "GO:0006958" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030449", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH25", "id": "A0A0C4DH25", "database": "UniProtKB" } ], "name": "regulation of complement activation", "id": "GO:0030449" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006956", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH25", "id": "A0A0C4DH25", "database": "UniProtKB" } ], "name": "complement activation", "id": "GO:0006956" } ], "total": 10, "name": "Biological Process" } ] }, "site_annotation": [], "crossref": [ { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5825", "id": "5825", "database": "HGNC" }, { "url": "https://pharos.nih.gov/targets/A0A0C4DH25", "id": "A0A0C4DH25", "database": "PHAROS" }, { "url": "https://www.nextprot.org/entry/NX_A0A0C4DH25", "id": "NX_A0A0C4DH25", "database": "neXtProt" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGKV3D-20", "id": "IGKV3D-20", "database": "GeneCards" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166663", "id": "R-HSA-166663", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-173623", "id": "R-HSA-173623", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2168880", "id": "R-HSA-2168880", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606", "id": "R-HSA-977606", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2029482", "id": "R-HSA-2029482", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2029481", "id": "R-HSA-2029481", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733", "id": "R-HSA-202733", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983695", "id": "R-HSA-983695", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2029485", "id": "R-HSA-2029485", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2454202", "id": "R-HSA-2454202", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2730905", "id": "R-HSA-2730905", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2871796", "id": "R-HSA-2871796", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2871809", "id": "R-HSA-2871809", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2871837", "id": "R-HSA-2871837", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5690714", "id": "R-HSA-5690714", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933", "id": "R-HSA-198933", "database": "Reactome" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000211625", "id": "ENSG00000211625", "database": "Bgee" }, { "url": "https://omabrowser.org/oma/group/TRVTINC/", "id": "TRVTINC", "database": "OMA" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR003599", "id": "IPR003599", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR007110", "id": "IPR007110", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "id": "IPR013783", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR036179", "id": "IPR036179", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR013106", "id": "IPR013106", "database": "InterPro" }, { "url": "http://pfam.xfam.org/family/PF07686", "id": "PF07686", "database": "Pfam" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A0A0C4DH25", "id": "PR_A0A0C4DH25", "database": "PRO" } ], "expression_disease": [], "uniprot_ac": "A0A0C4DH25", "disease": [], "mass": { "monoisotopic_mass": 12515.0, "chemical_mass": 12515.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH25", "name": "IGKV3D-20.", "locus": { "end_pos": 90039479, "start_pos": 90038848, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000211625", "id": "ENSG00000211625", "database": "Ensembl Gene" } ] } } ] }