{
    "uniprot_canonical_ac": "A0A0A0MS02-1", 
    "ptm_annotation": [], 
    "sequence": {
        "header": "sp|A0A0A0MS02-1|TRGV1_HUMAN Isoform 1 of Probable non-functional T cell receptor gamma variable  OS=Homo sapiens OX=9606 GN=TRGV1 PE=1 SV=1 CANONICAL=A0A0A0MS02-1", 
        "length": 117, 
        "sequence": "MRWALAVLLAFLSPASQISSNLEGRTKSVTRLTGSSAEITCDLPGASTLYIHWYLHQEGKAPQCLLYYEPYYSRVVLESGITPGKYDTGSTRSNWNLRLQNLIKNDSGFYYCATWDR"
    }, 
    "uniprot_id": "TRGV1_HUMAN", 
    "enzyme_annotation": [], 
    "glycation": [], 
    "keywords": [
        "glycoprotein", 
        "predicted.uniprotkb_gly"
    ], 
    "species": [
        {
            "common_name": "Human", 
            "evidence": [
                {
                    "url": "https://www.uniprot.org/uniprot/A0A0A0MS02", 
                    "id": "A0A0A0MS02", 
                    "database": "UniProtKB"
                }
            ], 
            "name": "Homo sapiens", 
            "taxid": 9606
        }
    ], 
    "publication": [
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/23348415", 
                    "type": [
                        "PubMed"
                    ], 
                    "id": "23348415"
                }
            ], 
            "title": "Six-of-the-best: unique contributions of gammadelta T cells to immunology.", 
            "journal": "Nat. Rev. Immunol.", 
            "evidence": [
                {
                    "url": "https://www.uniprot.org/uniprot/A0A0A0MS02", 
                    "id": "A0A0A0MS02", 
                    "database": "UniProtKB"
                }
            ], 
            "authors": "Hayday A., Vantourout P.", 
            "date": "2013"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/24387714", 
                    "type": [
                        "PubMed"
                    ], 
                    "id": "24387714"
                }
            ], 
            "title": "gammadelta T cells: first line of defense and beyond.", 
            "journal": "Annu. Rev. Immunol.", 
            "evidence": [
                {
                    "url": "https://www.uniprot.org/uniprot/A0A0A0MS02", 
                    "id": "A0A0A0MS02", 
                    "database": "UniProtKB"
                }
            ], 
            "authors": "Chien Y.H., Bonneville M., Meyer C.", 
            "date": "2014"
        }, 
        {
            "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/A0A0A0MS02", 
                    "id": "A0A0A0MS02", 
                    "database": "UniProtKB"
                }
            ], 
            "authors": "Lefranc M.P.", 
            "date": "2014"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/25674089", 
                    "type": [
                        "PubMed"
                    ], 
                    "id": "25674089"
                }
            ], 
            "title": "Five Layers of Receptor Signaling in gammadelta T-Cell Differentiation and Activation.", 
            "journal": "Front. Immunol.", 
            "evidence": [
                {
                    "url": "https://www.uniprot.org/uniprot/A0A0A0MS02", 
                    "id": "A0A0A0MS02", 
                    "database": "UniProtKB"
                }
            ], 
            "authors": "Ribeiro S.T., Ribot J.C., Silva-Santos B.", 
            "date": "2015"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/28920588", 
                    "type": [
                        "PubMed"
                    ], 
                    "id": "28920588"
                }
            ], 
            "title": "gammadelta T cells in homeostasis and host defence of epithelial barrier tissues.", 
            "journal": "Nat. Rev. Immunol.", 
            "evidence": [
                {
                    "url": "https://www.uniprot.org/uniprot/A0A0A0MS02", 
                    "id": "A0A0A0MS02", 
                    "database": "UniProtKB"
                }
            ], 
            "authors": "Nielsen M.M., Havran W.L., Witherden D.A.", 
            "date": "2017"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/9619395", 
                    "type": [
                        "PubMed"
                    ], 
                    "id": "9619395"
                }
            ], 
            "title": "IMGT (ImMunoGeneTics) locus on focus. A new section of Experimental and Clinical Immunogenetics.", 
            "journal": "Exp. Clin. Immunogenet.", 
            "evidence": [
                {
                    "url": "https://www.uniprot.org/uniprot/A0A0A0MS02", 
                    "id": "A0A0A0MS02", 
                    "database": "UniProtKB"
                }
            ], 
            "authors": "Lefranc M.P.", 
            "date": "1998"
        }
    ], 
    "uniprot_ac": "A0A0A0MS02", 
    "site_annotation": [
        {
            "end_pos": 107, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 105
        }
    ], 
    "isoforms": [
        {
            "url": "https://www.uniprot.org/uniprot/A0A0A0MS02#A0A0A0MS02-1", 
            "isoform_ac": "A0A0A0MS02-1", 
            "locus": {
                "end_pos": 38367586, 
                "strand": "+", 
                "start_pos": 38368055, 
                "chromosome": "7", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENST00000390348", 
                        "id": "ENST00000390348", 
                        "database": "Ensembl Transcript"
                    }, 
                    {
                        "url": "https://www.ensembl.org/id/ENSP00000374871", 
                        "id": "ENSP00000374871", 
                        "database": "Ensembl Peptide"
                    }
                ]
            }, 
            "sequence": {
                "header": "sp|A0A0A0MS02-1|TRGV1_HUMAN Isoform 1 of Probable non-functional T cell receptor gamma variable  OS=Homo sapiens OX=9606 GN=TRGV1 PE=1 SV=1 CANONICAL=A0A0A0MS02-1", 
                "length": 117, 
                "sequence": "MRWALAVLLAFLSPASQISSNLEGRTKSVTRLTGSSAEITCDLPGASTLYIHWYLHQEGKAPQCLLYYEPYYSRVVLESGITPGKYDTGSTRSNWNLRLQNLIKNDSGFYYCATWDR"
            }
        }
    ], 
    "pathway": [], 
    "function": [
        {
            "url": "https://www.uniprot.org/uniprot/A0A0A0MS02#function", 
            "annotation": "Probable non-functional open reading frame (ORF) of V region of the variable domain of T cell receptor (TR) gamma chain (PubMed:24600447). Non-functional ORF generally cannot participate to the synthesis of a productive T cell receptor (TR) 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). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:23348415, PubMed:28920588). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714).", 
            "evidence": [
                {
                    "url": "https://www.uniprot.org/uniprot/A0A0A0MS02#function", 
                    "id": "A0A0A0MS02", 
                    "database": "UniProtKB"
                }
            ]
        }
    ], 
    "orthologs": [
        {
            "uniprot_canonical_ac": "A0A0A6YYE8-1", 
            "protein_name": "T cell receptor gamma, variable 7", 
            "sequence": {
                "length": 116, 
                "sequence": "MLWALALLLAFLPAGRQTSSNLEERIMSITKLEGSSAIMTCDTHRTGTYIHWYRFQKGRAPEHLLYYNFVSSTTVVDSRFNLEKYHVYEGPDKRYKFVLRNVEESDSALYYCASWA"
            }, 
            "evidence": [
                {
                    "url": "https://omabrowser.org/oma/group/A0A0A0MS02/", 
                    "id": "A0A0A0MS02", 
                    "database": "OMA"
                }
            ], 
            "common_name": "Mouse", 
            "organism": "Mus musculus", 
            "gene_name": "Trgv7", 
            "tax_id": 10090
        }
    ], 
    "interactions": [], 
    "synthesized_glycans": [], 
    "snv": [
        {
            "sequence_org": "N", 
            "alt_nt": "null", 
            "chr_id": "7", 
            "ref_nt": "C", 
            "chr_pos": "38367623T>", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764286409", 
                    "id": "rs764286409", 
                    "database": "dbSNP"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764286409", 
                    "id": "rs764286409", 
                    "database": "ExAC"
                }, 
                {
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs764286409", 
                    "id": "rs764286409", 
                    "database": "gnomAD"
                }
            ], 
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ], 
            "sequence_mut": "S", 
            "start_pos": 105, 
            "keywords": [
                "ebi", 
                "germline"
            ], 
            "end_pos": 105, 
            "minor_allelic_frequency": "", 
            "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDS->SDS)."
        }, 
        {
            "sequence_org": "S", 
            "start_pos": 107, 
            "alt_nt": "T", 
            "chr_id": "7", 
            "ref_nt": "G", 
            "chr_pos": "38407218", 
            "disease": [
                {
                    "synonyms": [], 
                    "recommended_name": {
                        "id": "DOID:9256", 
                        "url": "http://disease-ontology.org/term/DOID:9256", 
                        "resource": "Disease Ontology", 
                        "name": "colorectal cancer", 
                        "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0A0A0MS02", 
                    "id": "A0A0A0MS02", 
                    "database": "BioMuta"
                }
            ], 
            "glycoeffect": [
                "n-glyco-sequon-loss", 
                "o-glyco-site-loss"
            ], 
            "frequency": "0.4", 
            "sequence_mut": "Y", 
            "subjects_tested": "254", 
            "keywords": [
                "biomuta", 
                "somatic", 
                "cancer", 
                "disease"
            ], 
            "annotation": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NDS->NDY).", 
            "end_pos": 107, 
            "minor_allelic_frequency": "", 
            "subjects_positive": "1"
        }, 
        {
            "sequence_org": "R", 
            "start_pos": 117, 
            "alt_nt": "C", 
            "chr_id": "7", 
            "ref_nt": "T", 
            "chr_pos": "38407189", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "Thyroid gland neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumour of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "neoplasm of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "DOID:1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "thyroid neoplasm", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "DOID:1781", 
                        "url": "http://disease-ontology.org/term/DOID:1781", 
                        "resource": "Disease Ontology", 
                        "name": "thyroid gland cancer", 
                        "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0A0A0MS02", 
                    "id": "A0A0A0MS02", 
                    "database": "BioMuta"
                }
            ], 
            "glycoeffect": [], 
            "frequency": "2.0", 
            "sequence_mut": "G", 
            "subjects_tested": "50", 
            "keywords": [
                "biomuta", 
                "somatic", 
                "cancer", 
                "disease"
            ], 
            "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", 
            "end_pos": 117, 
            "minor_allelic_frequency": "", 
            "subjects_positive": "1"
        }, 
        {
            "sequence_org": "P", 
            "start_pos": 14, 
            "alt_nt": "T", 
            "chr_id": "7", 
            "ref_nt": "G", 
            "chr_pos": "38407617", 
            "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/A0A0A0MS02", 
                    "id": "A0A0A0MS02", 
                    "database": "BioMuta"
                }
            ], 
            "glycoeffect": [], 
            "frequency": "2.6", 
            "sequence_mut": "T", 
            "subjects_tested": "38", 
            "keywords": [
                "biomuta", 
                "somatic", 
                "cancer", 
                "disease"
            ], 
            "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.6%).", 
            "end_pos": 14, 
            "minor_allelic_frequency": "", 
            "subjects_positive": "1"
        }, 
        {
            "sequence_org": "R", 
            "start_pos": 2, 
            "alt_nt": "A", 
            "chr_id": "7", 
            "ref_nt": "C", 
            "chr_pos": "38407652", 
            "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/A0A0A0MS02", 
                    "id": "A0A0A0MS02", 
                    "database": "BioMuta"
                }
            ], 
            "glycoeffect": [], 
            "frequency": "2.6", 
            "sequence_mut": "L", 
            "subjects_tested": "38", 
            "keywords": [
                "biomuta", 
                "somatic", 
                "cancer", 
                "disease"
            ], 
            "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.6%).", 
            "end_pos": 2, 
            "minor_allelic_frequency": "", 
            "subjects_positive": "1"
        }
    ], 
    "cluster_types": [
        {
            "name": "homologset.oma", 
            "label": "OMA Homologs"
        }
    ], 
    "refseq": {}, 
    "go_annotation": {
        "categories": [
            {
                "go_terms": [
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", 
                        "pmid": "21873635", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0A0A0MS02", 
                                "id": "A0A0A0MS02", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "external side of plasma membrane", 
                        "id": "GO:0009897"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042101", 
                        "pmid": "", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0A0A0MS02", 
                                "id": "A0A0A0MS02", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "T cell receptor complex", 
                        "id": "GO:0042101"
                    }
                ], 
                "total": 2, 
                "name": "Cellular Component"
            }, 
            {
                "go_terms": [
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", 
                        "pmid": "", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0A0A0MS02", 
                                "id": "A0A0A0MS02", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "adaptive immune response", 
                        "id": "GO:0002250"
                    }
                ], 
                "total": 1, 
                "name": "Biological Process"
            }
        ]
    }, 
    "gene_names": [
        {
            "url": "https://www.uniprot.org/uniprot/A0A0A0MS02", 
            "type": "recommended", 
            "resource": "UniProtKB", 
            "name": "TRGV1"
        }
    ], 
    "pro_annotation": [], 
    "crossref": [
        {
            "url": "https://bgee.org/?page=gene&gene_id=ENSG00000211701", 
            "id": "ENSG00000211701", 
            "database": "Bgee"
        }, 
        {
            "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0A0A0MS02", 
            "id": "A0A0A0MS02", 
            "database": "BioMuta"
        }, 
        {
            "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRGV1", 
            "id": "TRGV1", 
            "database": "GeneCards"
        }, 
        {
            "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12284", 
            "id": "12284", 
            "database": "HGNC"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR007110", 
            "id": "IPR007110", 
            "database": "InterPro"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR013106", 
            "id": "IPR013106", 
            "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://omabrowser.org/oma/group/LKICLWL/", 
            "id": "LKICLWL", 
            "database": "OMA"
        }, 
        {
            "url": "http://pfam.xfam.org/family/PF07686", 
            "id": "PF07686", 
            "database": "Pfam"
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A0A0A0MS02", 
            "id": "A0A0A0MS02", 
            "database": "UniProtKB"
        }
    ], 
    "expression_disease": [], 
    "glycosylation": [
        {
            "residue": "Asn", 
            "site_category": "predicted", 
            "end_pos": 105, 
            "evidence": [
                {
                    "url": "https://www.uniprot.org/uniprot/A0A0A0MS02#ptm_processing", 
                    "id": "A0A0A0MS02", 
                    "database": "UniProtKB"
                }
            ], 
            "subtype": "", 
            "relation": "attached", 
            "start_pos": 105, 
            "glytoucan_ac": "", 
            "type": "N-linked"
        }
    ], 
    "mutagenesis": [], 
    "disease": [], 
    "phosphorylation": [], 
    "mass": {
        "monoisotopic_mass": 13248.0, 
        "chemical_mass": 13248.0
    }, 
    "expression_tissue": [], 
    "gene": [
        {
            "url": "https://www.uniprot.org/uniprot/A0A0A0MS02", 
            "name": "TRGV1", 
            "locus": {
                "end_pos": 38367586, 
                "strand": "-", 
                "start_pos": 38368169, 
                "chromosome": "7", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENSG00000211701", 
                        "id": "ENSG00000211701", 
                        "database": "Ensembl Gene"
                    }
                ]
            }
        }
    ], 
    "protein_names": [
        {
            "url": "https://www.uniprot.org/uniprot/A0A0A0MS02#names_and_taxonomy", 
            "type": "recommended", 
            "resource": "UniProtKB", 
            "name": "Probable non-functional T cell receptor gamma variable"
        }
    ]
}