{ "uniprot_canonical_ac": "A0A578-1", "ptm_annotation": [], "sequence": { "header": "sp|A0A578-1|TVB51_HUMAN Isoform 1 of T cell receptor beta variable 5-1 OS=Homo sapiens OX=9606 GN=TRBV5-1 PE=1 SV=1 CANONICAL=A0A578-1", "length": 114, "sequence": "MGSRLLCWVLLCLLGAGPVKAGVTQTPRYLIKTRGQQVTLSCSPISGHRSVSWYQQTPGQGLQFLFEYFSETQRNKGNFPGRFSGRQFSNSRSEMNVSTLELGDSALYLCASSL" }, "uniprot_id": "TVB51_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [ "glycoprotein", "predicted.uniprotkb_gly" ], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A578", "id": "A0A578", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/15040585", "type": [ "PubMed" ], "id": "15040585" } ], "title": "The many important facets of T-cell repertoire diversity.", "journal": "Nat. Rev. Immunol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A578", "id": "A0A578", "database": "UniProtKB" } ], "authors": "Messaoudi I., Nikolich-Zugich J., Slifka M.K.", "date": "2004" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20452950", "type": [ "PubMed" ], "id": "20452950" } ], "title": "Structural biology of the T-cell receptor: insights into receptor assembly, ligand recognition, and initiation of signaling.", "journal": "Cold Spring Harb. Perspect. Biol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A578", "id": "A0A578", "database": "UniProtKB" } ], "authors": "Gagnon E., Wucherpfennig K.W., Call M.E., Call M.J., Huseby E.S.", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23524462", "type": [ "PubMed" ], "id": "23524462" } ], "title": "T cell receptor signalling networks: branched, diversified and bounded.", "journal": "Nat. Rev. Immunol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A578", "id": "A0A578", "database": "UniProtKB" } ], "authors": "Zamoyska R., Brownlie R.J.", "date": "2013" }, { "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/A0A578", "id": "A0A578", "database": "UniProtKB" } ], "authors": "Lefranc M.P.", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/25493333", "type": [ "PubMed" ], "id": "25493333" } ], "title": "T cell antigen receptor recognition of antigen-presenting molecules.", "journal": "Annu. Rev. Immunol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A578", "id": "A0A578", "database": "UniProtKB" } ], "authors": "Rossjohn J., Gras S., McCluskey J., Godfrey D.I., Miles J.J., Turner S.J.", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26758806", "type": [ "PubMed" ], "id": "26758806" } ], "title": "Direct molecular mimicry enables off-target cardiovascular toxicity by an enhanced affinity TCR designed for cancer immunotherapy.", "journal": "Sci. Rep.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A578", "id": "A0A578", "database": "UniProtKB" } ], "authors": "Jakobsen B.K., Mahon T., Simmons R., Cole D.K., Rizkallah P.J., Bossi G., Sami M., Baston E., Donnellan Z., Dukes J., Hassan N., Hickman E., Le Provost G.S., Raman M.C., Todorov P., Vuidepot A.", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/8650574", "type": [ "PubMed" ], "id": "8650574" } ], "title": "The complete 685-kilobase DNA sequence of the human beta T cell receptor locus.", "journal": "Science", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A578", "id": "A0A578", "database": "UniProtKB" } ], "authors": "Hood L., Koop B.F., Rowen L.", "date": "1996" } ], "uniprot_ac": "A0A578", "site_annotation": [ { "end_pos": 98, "annotation": "n_glycosylation_sequon", "start_pos": 96 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0A578#A0A578-1", "isoform_ac": "A0A578-1", "locus": { "end_pos": 142321075, "strand": "-", "start_pos": 142321543, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000390381", "id": "ENST00000390381", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000374904", "id": "ENSP00000374904", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0A578-1|TVB51_HUMAN Isoform 1 of T cell receptor beta variable 5-1 OS=Homo sapiens OX=9606 GN=TRBV5-1 PE=1 SV=1 CANONICAL=A0A578-1", "length": 114, "sequence": "MGSRLLCWVLLCLLGAGPVKAGVTQTPRYLIKTRGQQVTLSCSPISGHRSVSWYQQTPGQGLQFLFEYFSETQRNKGNFPGRFSGRQFSNSRSEMNVSTLELGDSALYLCASSL" } } ], "pathway": [], "function": [ { "url": "https://www.uniprot.org/uniprot/A0A578#function", "annotation": "V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A578#function", "id": "A0A578", "database": "UniProtKB" } ] } ], "orthologs": [], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "L", "start_pos": 107, "alt_nt": "C", "chr_id": "7", "ref_nt": "T", "chr_pos": "142021340", "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/A0A578", "id": "A0A578", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.1", "sequence_mut": "P", "subjects_tested": "93", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", "end_pos": 107, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "Q", "start_pos": 63, "alt_nt": "T", "chr_id": "7", "ref_nt": "A", "chr_pos": "142021208", "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/A0A578", "id": "A0A578", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.1", "sequence_mut": "L", "subjects_tested": "93", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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"description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "tumor of the Brain", "description": "" } ], "recommended_name": { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." } }, { "synonyms": [ { "id": "DOID:363", 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"resource": "Disease Ontology", "name": "uterus neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0A578", "id": "A0A578", "database": "BioMuta" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "frequency": "0.1", "sequence_mut": "N", "subjects_tested": "1042", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (SET->NET).", "end_pos": 70, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "P", "alt_nt": "null", "chr_id": "7", "ref_nt": "T", "chr_pos": "142321439C>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1023373432", 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variable 5-1" } ] }