{ "uniprot_canonical_ac": "A0A075B6N4-1", "uniprot_ac": "A0A075B6N4", "uniprot_id": "TVBY1_HUMAN", "mass": { "chemical_mass": 12983.0, "monoisotopic_mass": 12983.0 }, "refseq": {}, "gene_names": [ { "name": "TRBV25-1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A075B6N4", "id": "A0A075B6N4" }, { "name": "TCRBV11S1A1T", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A075B6N4", "id": "A0A075B6N4" } ], "protein_names": [ { "name": "T cell receptor beta variable 25-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A0A075B6N4" } ], "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": [ { "database": "UniProtKB", "id": "A0A075B6N4", "url": "https://www.uniprot.org/uniprot/A0A075B6N4#function" }, { "database": "PubMed", "id": "23524462", "url": "https://glygen.org/publication/PubMed/23524462" }, { "database": "PubMed", "id": "25493333", "url": "https://glygen.org/publication/PubMed/25493333" }, { "database": "PubMed", "id": "15040585", "url": "https://glygen.org/publication/PubMed/15040585" }, { "database": "PubMed", "id": "24600447", "url": "https://glygen.org/publication/PubMed/24600447" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1372569498", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1372569498" }, { "id": "rs1372569498", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1372569498" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 37, "end_pos": 37, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KIT->NIT).", "chr_id": "7", "chr_pos": "142671011", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K37", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1453641014", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1453641014" }, { "id": "rs1453641014", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1453641014" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 72, "end_pos": 72, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->IST).", "chr_id": "7", "chr_pos": "142671115", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N72", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "A0A075B6N4", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0A075B6N4" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 72, "end_pos": 72, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NST->TST).", "chr_id": "7", "chr_pos": "142671115", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N72", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "A0A075B6N4", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0A075B6N4" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 74, "end_pos": 74, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NST->NSA).", "chr_id": "7", "chr_pos": "142671120", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "T74", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "26.13", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000282499", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000282499" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000282499", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000282499" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "16.41", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000282499", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000282499" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000282499", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000282499" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "49.82", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000282499", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000282499" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "32.19", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000282499", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000282499" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "26.59", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000282499", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000282499" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "26.93", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000282499", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000282499" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "28.81", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000282499", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000282499" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "34.59", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000282499", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000282499" } ] } ], "expression_disease": [], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A0A075B6N4", "url": "https://www.uniprot.org/uniprot/A0A075B6N4" } ], "common_name": "Human" } ], "gene": [ { "name": "TRBV25-1", "url": "https://www.uniprot.org/uniprot/A0A075B6N4", "locus": { "chromosome": "7", "start_pos": 142671244, "end_pos": 142670740, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000282499", "url": "https://www.ensembl.org/id/ENSG00000282499" } ] } } ], "crossref": [ { "id": "ENSG00000282499", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000282499", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "A0A075B6N4", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0A075B6N4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "TRBV25-1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRBV25-1", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "12205", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12205", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "IPR007110", "url": "https://www.ebi.ac.uk/interpro/entry/IPR007110", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "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_A0A075B6N4", "url": "https://www.nextprot.org/entry/NX_A0A075B6N4", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "A0A075B6N4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A0A075B6N4", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "ENMYWYR", "url": "https://omabrowser.org/oma/group/ENMYWYR/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "PTHR23268", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23268", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR23268:SF30", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23268:SF30", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF07686", "url": "http://pfam.xfam.org/family/PF07686", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_A0A075B6N4", "url": "http://purl.obolibrary.org/obo/PR_A0A075B6N4", "database": "PRO", "categories": [ "Protein" ] }, { "id": "A0A075B6N4", "url": "https://www.uniprot.org/uniprot/A0A075B6N4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A075B6N4-1", "url": "https://www.uniprot.org/uniprot/A0A075B6N4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A5C2", "url": "https://www.uniprot.org/uniprot/A0A5C2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A5C2-1", "url": "https://www.uniprot.org/uniprot/A0A5C2-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTIRLLCYVGFYFLGAGLMEADIYQTPRYLVIGTGKKITLECSQTMGHDKMYWYQQDPGMELHLIHYSYGVNSTEKGDLSSESTVSRIRTEHFPLTLESARPSHTSQYLCASSE", "length": 114, "header": "sp|A0A075B6N4-1|TVBY1_HUMAN Isoform 1 of T cell receptor beta variable 25-1 OS=Homo sapiens OX=9606 GN=TRBV25-1 PE=3 SV=1 CANONICAL=A0A075B6N4-1" }, "isoforms": [ { "isoform_ac": "A0A075B6N4-1", "url": "", "sequence": { "sequence": "MTIRLLCYVGFYFLGAGLMEADIYQTPRYLVIGTGKKITLECSQTMGHDKMYWYQQDPGMELHLIHYSYGVNSTEKGDLSSESTVSRIRTEHFPLTLESARPSHTSQYLCASSE", "length": 114, "header": "sp|A0A075B6N4-1|TVBY1_HUMAN Isoform 1 of T cell receptor beta variable 25-1 OS=Homo sapiens OX=9606 GN=TRBV25-1 PE=3 SV=1 CANONICAL=A0A075B6N4-1" }, "locus": { "chromosome": "7", "start_pos": 142671242, "end_pos": 142670777, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000390398.3", "url": "https://www.ensembl.org/id/ENST00000390398.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000374921.3", "url": "https://www.ensembl.org/id/ENSP00000374921.3" } ] } }, { "isoform_ac": "A0A5C2-1", "url": "", "sequence": { "sequence": "MTIRLLCYMGFYFLGAGLMEADIYQTPRYLVIGTGKKITLECSQTMGHDKMYWYQQDPGMELHLIHYSYGVNSTEKGDLSSESTVSRIRTEHFPLTLESARPSHTSQYLCASSE", "length": 114, "header": "tr|A0A5C2-1|A0A5C2_HUMAN Computationally mapped isoform of V_segment translation product OS=Homo sapiens OX=9606 GN=TRBV25-1 PE=4 SV=1 CANONICAL=A0A075B6N4-1" }, "locus": { "chromosome": "CHR_HSCHR7_2_CTG6", "start_pos": 142711915, "end_pos": 142711450, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000610439.4", "url": "https://www.ensembl.org/id/ENST00000610439.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000479511.2", "url": "https://www.ensembl.org/id/ENSP00000479511.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 72, "start_aa": "Asn", "end_pos": 72, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn72", "evidence": [ { "id": "A0A075B6N4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A075B6N4#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "A0A075B6N4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A0A075B6N4" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "A0A075B6N4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A0A075B6N4" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "pathway": [], "orthologs": [], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A075B6N4", "url": "https://www.uniprot.org/uniprot/A0A075B6N4" } ], "pmid": "" }, { "name": "T cell receptor complex", "id": "GO:0042101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042101", "evidence": [ { "database": "UniProtKB", "id": "A0A075B6N4", "url": "https://www.uniprot.org/uniprot/A0A075B6N4" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "A0A075B6N4", "url": "https://www.uniprot.org/uniprot/A0A075B6N4" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A075B6N4", "url": "https://www.uniprot.org/uniprot/A0A075B6N4" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 72, "end_pos": 74, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }