{ "uniprot_canonical_ac": "O60602-1", "uniprot_ac": "O60602", "uniprot_id": "TLR5_HUMAN", "mass": { "chemical_mass": 97800.0, "monoisotopic_mass": 97800.0 }, "refseq": { "ac": "NP_003259", "name": "toll-like receptor 5 precursor", "summary": "This gene encodes a member of the toll-like receptor (TLR) family, which plays a fundamental role in pathogen recognition and activation of innate immune responses. These receptors recognize distinct pathogen-associated molecular patterns that are expressed on infectious agents. The protein encoded by this gene recognizes bacterial flagellin, the principal component of bacterial flagella and a virulence factor. The activation of this receptor mobilizes the nuclear factor NF-kappaB, which in turn activates a host of inflammatory-related target genes. Mutations in this gene have been associated with both resistance and susceptibility to systemic lupus erythematosus, and susceptibility to Legionnaire disease.[provided by RefSeq, Dec 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003259" }, "gene_names": [ { "name": "TLR5", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60602", "id": "O60602" }, { "name": "MELIOS; SLE1; SLEB1; TIL3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003259", "id": "NP_003259" }, { "name": "TIL3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60602", "id": "O60602" }, { "name": "TLR5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003259", "id": "NP_003259" } ], "protein_names": [ { "name": "Toll-like receptor 5", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60602" }, { "name": "Toll/interleukin-1 receptor-like protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60602" }, { "name": "toll-like receptor 5 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003259", "id": "NP_003259" }, { "name": "toll/interleukin-1 receptor-like protein 3; systemic lupus erythematosus susceptibility 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003259", "id": "NP_003259" } ], "function": [ { "annotation": "A stop codon polymorphism of Toll-like receptor 5 is associated with resistance to systemic lupus erythematosus. GeneRIF: Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_003259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003259" }, { "database": "PubMed", "id": "16027372", "url": "https://glygen.org/publication/PubMed/16027372" } ] }, { "annotation": "Association between TLR2, TLR4, and TLR5 genetic variants and the risk of hepatocellular carcinoma in Moroccan population.", "evidence": [ { "database": "RefSeq", "id": "NP_003259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003259" }, { "database": "PubMed", "id": "37330637", "url": "https://glygen.org/publication/PubMed/37330637" } ] }, { "annotation": "Identification of toll-like receptor 5 and acyl-CoA synthetase long chain family member 1 as hub genes are correlated with the severe forms of COVID-19 by Weighted gene co-expression network analysis.", "evidence": [ { "database": "RefSeq", "id": "NP_003259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003259" }, { "database": "PubMed", "id": "37823415", "url": "https://glygen.org/publication/PubMed/37823415" } ] }, { "annotation": "Our results do not indicate a major influence of these putative functional TLR5 and TLR9 single nucleotide polymorphisms on the susceptibility to (or protection from) systemic lupus erythematosus. GeneRIF: Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_003259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003259" }, { "database": "PubMed", "id": "17516623", "url": "https://glygen.org/publication/PubMed/17516623" } ] }, { "annotation": "Pattern recognition receptor (PRR) located on the cell surface that participates in the activation of innate immunity and inflammatory response (PubMed:11323673, PubMed:18490781). Recognizes small molecular motifs named pathogen-associated molecular pattern (PAMPs) expressed by pathogens and microbe-associated molecular patterns (MAMPs) usually expressed by resident microbiota (PubMed:29934223). Upon ligand binding such as bacterial flagellins, recruits intracellular adapter proteins MYD88 and TRIF leading to NF-kappa-B activation, cytokine secretion and induction of the inflammatory response (PubMed:20855887, PubMed:11489966). Plays thereby an important role in the relationship between the intestinal epithelium and enteric microbes and contributes to the gut microbiota composition throughout life (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O60602", "url": "https://www.uniprot.org/uniprot/O60602#function" }, { "database": "PubMed", "id": "11323673", "url": "https://glygen.org/publication/PubMed/11323673" }, { "database": "PubMed", "id": "20855887", "url": "https://glygen.org/publication/PubMed/20855887" }, { "database": "UniProtKB", "id": "Q9JLF7", "url": "https://www.uniprot.org/uniprot/Q9JLF7#function" }, { "database": "PubMed", "id": "18490781", "url": "https://glygen.org/publication/PubMed/18490781" }, { "database": "PubMed", "id": "29934223", "url": "https://glygen.org/publication/PubMed/29934223" }, { "database": "PubMed", "id": "11489966", "url": "https://glygen.org/publication/PubMed/11489966" } ] }, { "annotation": "This gene encodes a member of the toll-like receptor (TLR) family, which plays a fundamental role in pathogen recognition and activation of innate immune responses. These receptors recognize distinct pathogen-associated molecular patterns that are expressed on infectious agents. The protein encoded by this gene recognizes bacterial flagellin, the principal component of bacterial flagella and a virulence factor. The activation of this receptor mobilizes the nuclear factor NF-kappaB, which in turn activates a host of inflammatory-related target genes. Mutations in this gene have been associated with both resistance and susceptibility to systemic lupus erythematosus, and susceptibility to Legionnaire disease.[provided by RefSeq, Dec 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_003259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003259" } ] }, { "annotation": "Toll-like receptor 5 tunes hepatic and pancreatic stellate cells activation.", "evidence": [ { "database": "RefSeq", "id": "NP_003259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003259" }, { "database": "PubMed", "id": "37433685", "url": "https://glygen.org/publication/PubMed/37433685" } ] } ], "disease": [ { "disease_id": "DOID:417", "recommended_name": { "id": "DOID:417", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:417", "name": "autoimmune disease", "description": "An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues." }, "synonyms": [ { "id": "DOID:417", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:417", "name": "hypersensitivity reaction type II disease", "description": "" }, { "id": "DOID:417", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:417", "name": "autoimmune hypersensitivity disease", "description": "" }, { "id": "MONDO:0007179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007179", "name": "autoimmune disease", "description": "A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis)." }, { "id": "MONDO:0007179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007179", "name": "autoimmune disease", "description": "" }, { "id": "MONDO:0007179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007179", "name": "autoimmune disease or disorder", "description": "" }, { "id": "MONDO:0007179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007179", "name": "autoimmune disorder", "description": "" }, { "id": "MONDO:0007179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007179", "name": "disease, autoimmune", "description": "" }, { "id": "MONDO:0007179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007179", "name": "autoimmune hypersensitivity disease", "description": "" }, { "id": "MONDO:0007179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007179", "name": "hypersensitivity reaction type II disease", "description": "" } ], "evidence": [ { "id": "109100", "database": "MIM", "url": "https://www.omim.org/entry/109100" } ] }, { "disease_id": "MONDO:0011138", "recommended_name": { "id": "MONDO:0011138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011138", "name": "systemic lupus erythematosus, susceptibility to, 1", "description": "Any systemic lupus erythematosus in which the cause of the disease is a mutation in the TLR5 gene." }, "synonyms": [ { "id": "MONDO:0011138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011138", "name": "SLEB1", "description": "" }, { "id": "MONDO:0011138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011138", "name": "TLR5 systemic lupus erythematosus (disease)", "description": "" }, { "id": "MONDO:0011138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011138", "name": "susceptibility to systemic lupus erythematosus 1", "description": "" }, { "id": "MONDO:0011138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011138", "name": "systemic lupus erythematosus (disease) caused by mutation in TLR5", "description": "" }, { "id": "MONDO:0011138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011138", "name": "systemic lupus erythematosus, resistance to", "description": "" }, { "id": "MONDO:0011138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011138", "name": "systemic lupus erythematosus, resistance to, 1", "description": "" }, { "id": "MONDO:0011138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011138", "name": "systemic lupus erythematosus, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011138", "name": "systemic lupus erythematosus, susceptibility to, type 1", "description": "" }, { "id": "MIM:601744", "resource": "MIM", "url": "https://www.omim.org/entry/601744", "name": "Systemic lupus erythematosus 1", "description": "Systemic lupus erythematosus 1" } ], "evidence": [ { "id": "601744", "database": "MIM", "url": "https://www.omim.org/entry/601744" } ] }, { "disease_id": "MONDO:0012057", "recommended_name": { "id": "MONDO:0012057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012057", "name": "legionnaire disease, susceptibility to", "description": "" }, "synonyms": [ { "id": "MONDO:0012057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012057", "name": "legionnaire disease, susceptibility to", "description": "" }, { "id": "MONDO:0012057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012057", "name": "Legionella infection", "description": "" }, { "id": "MONDO:0012057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012057", "name": "legionnaire's disease", "description": "" }, { "id": "MONDO:0012057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012057", "name": "susceptibility to legionnaire disease", "description": "" } ], "evidence": [ { "id": "608556", "database": "MIM", "url": "https://www.omim.org/entry/608556" } ] }, { "disease_id": "MONDO:0014251", "recommended_name": { "id": "MONDO:0014251", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014251", "name": "melioidosis, susceptibility to", "description": "" }, "synonyms": [ { "id": "MONDO:0014251", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014251", "name": "melioidosis, susceptibility to", "description": "" }, { "id": "MONDO:0014251", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014251", "name": "melioidosis, resistance to", "description": "" }, { "id": "MONDO:0014251", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014251", "name": "susceptibility to melioidosis", "description": "" } ], "evidence": [ { "id": "615557", "database": "MIM", "url": "https://www.omim.org/entry/615557" } ] } ], "snv": [ { "evidence": [ { "id": "O60602", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60602" } ], "glycoeffect": [], "start_pos": 149, "end_pos": 149, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "223112587", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R149", "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" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "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:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { 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], "glycoeffect": [], "start_pos": 149, "end_pos": 149, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "223112586", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R149", "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", 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O60602", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60602" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60602" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O60602", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60602" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O60602", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60602" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, 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"http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24365:SF525", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "3J0A", "url": "https://www.rcsb.org/structure/3J0A", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8AR2", "url": "https://www.rcsb.org/structure/8AR2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00560", "url": "http://pfam.xfam.org/family/PF00560", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01582", "url": "http://pfam.xfam.org/family/PF01582", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13855", "url": "http://pfam.xfam.org/family/PF13855", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O60602", "url": "https://pharos.nih.gov/targets/O60602", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O60602", "url": "http://purl.obolibrary.org/obo/PR_O60602", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-168176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-168176", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5602680", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5602680", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5603037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5603037", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-975871", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975871", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_003259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003259", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A2R8Y4Q2", "url": "https://www.uniprot.org/uniprot/A0A2R8Y4Q2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y4Q2-1", "url": "https://www.uniprot.org/uniprot/A0A2R8Y4Q2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y7Z4", "url": "https://www.uniprot.org/uniprot/A0A2R8Y7Z4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y7Z4-1", "url": "https://www.uniprot.org/uniprot/A0A2R8Y7Z4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B1AZ06", "url": "https://www.uniprot.org/uniprot/B1AZ06", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B1AZ06-1", "url": "https://www.uniprot.org/uniprot/B1AZ06-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60602", "url": "https://www.uniprot.org/uniprot/O60602", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60602-1", "url": "https://www.uniprot.org/uniprot/O60602-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGDHLDLLLGVVLMAGPVFGIPSCSFDGRIAFYRFCNLTQVPQVLNTTERLLLSFNYIRTVTASSFPFLEQLQLLELGSQYTPLTIDKEAFRNLPNLRILDLGSSKIYFLHPDAFQGLFHLFELRLYFCGLSDAVLKDGYFRNLKALTRLDLSKNQIRSLYLHPSFGKLNSLKSIDFSSNQIFLVCEHELEPLQGKTLSFFSLAANSLYSRVSVDWGKCMNPFRNMVLEILDVSGNGWTVDITGNFSNAISKSQAFSLILAHHIMGAGFGFHNIKDPDQNTFAGLARSSVRHLDLSHGFVFSLNSRVFETLKDLKVLNLAYNKINKIADEAFYGLDNLQVLNLSYNLLGELYSSNFYGLPKVAYIDLQKNHIAIIQDQTFKFLEKLQTLDLRDNALTTIHFIPSIPDIFLSGNKLVTLPKINLTANLIHLSENRLENLDILYFLLRVPHLQILILNQNRFSSCSGDQTPSENPSLEQLFLGENMLQLAWETELCWDVFEGLSHLQVLYLNHNYLNSLPPGVFSHLTALRGLSLNSNRLTVLSHNDLPANLEILDISRNQLLAPNPDVFVSLSVLDITHNKFICECELSTFINWLNHTNVTIAGPPADIYCVYPDSFSGVSLFSLSTEGCDEEEVLKSLKFSLFIVCTVTLTLFLMTILTVTKFRGFCFICYKTAQRLVFKDHPQGTEPDMYKYDAYLCFSSKDFTWVQNALLKHLDTQYSDQNRFNLCFEERDFVPGENRIANIQDAIWNSRKIVCLVSRHFLRDGWCLEAFSYAQGRCLSDLNSALIMVVVGSLSQYQLMKHQSIRGFVQKQQYLRWPEDLQDVGWFLHKLSQQILKKEKEKKKDNNIPLQTVATIS", "length": 858, "header": "sp|O60602-1|TLR5_HUMAN Isoform 1 of Toll-like receptor 5 OS=Homo sapiens OX=9606 GN=TLR5 PE=1 SV=5 CANONICAL=O60602-1" }, "isoforms": [ { "isoform_ac": "A0A2R8Y4Q2-1", "url": "", "sequence": { "sequence": "MGDHLDLLLGVVLMAGPVFGIPSCSFDGRIAFYRFCNLTQVPQVLNTTERLLLSFNYIRTVTASSFPFLEQLQLLELGSQYTPLTIDKEAFRNLPNLRILDLGSSKIYFLHPDAFQGLFHLFELRLYFCGLSDAVLKDGYFRNLKALTRLDLSKNQIRSLYLHPSFGKLNSLKSIDFSSNQIFLVCEHELEPLQGKTLSFFSLAANSLYSRVSVDWGKCMNPFRNMVLEILDVSGNGWTVDITGNFSNAISKSQAFSLILAHHIMGAGFGFHNIKDPDQNTFAGLARSSVRHLDLSHGFVFSLNSRVFETLKDLKVLNLAYNKINKIADEAFYGLDNLQVLNLSYNLLGELYSSNFYGLPKVAYIDLQKNHIAIIQDQTFKFLEKLQTLDLRDNALTTIHFIPSIPDIFLSGNKLVTLPKINLTANLIHLSENRLENLDILYFLLRVPHLQILILNQNRFSSCSGDQTPSENPSLEQLFLGENMLQLAWETELCWDVFEGLSHLQVLYLNHNYLNSLPPGVFSHLTALRGLSLNSNRLTVLSHNDLPANLEILDISRNQLLAPNPDVFVSLSVLDITHNKFICECELSTFINWLNHTNVTIAGPPADIYCVYPDSFSGVSLFSLSTEGCDEEEVLKSLKFSLFIVCTVTLTLFLMTILTVTKFRGFCFICYKTAQRLVFKDHPQGTEPDMYKYDAYLCFSSKDFTWVQNALLKHLDTQYSDQNRFNLCFEERDFVPGENRIANIQDAIWNSRKIVCLVSRHFLRDGWCLEAFSYA", "length": 775, "header": "tr|A0A2R8Y4Q2-1|A0A2R8Y4Q2_HUMAN Computationally mapped isoform of Toll like receptor 5 OS=Homo sapiens OX=9606 GN=TLR5 PE=1 SV=1 CANONICAL=O60602-1" }, "locus": { "chromosome": "1", "start_pos": 223113031, "end_pos": 223110707, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000645434.1", "url": "https://www.ensembl.org/id/ENST00000645434.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000493892.1", "url": "https://www.ensembl.org/id/ENSP00000493892.1" } ] } }, { "isoform_ac": "A0A2R8Y7Z4-1", "url": "", "sequence": { "sequence": 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GN=TLR5 PE=1 SV=1 CANONICAL=O60602-1" }, "locus": { "chromosome": "1", "start_pos": 223113031, "end_pos": 223110458, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000642603.2", "url": "https://www.ensembl.org/id/ENST00000642603.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000496355.1", "url": "https://www.ensembl.org/id/ENSP00000496355.1" } ] } }, { "isoform_ac": "B1AZ06-1", "url": "", "sequence": { "sequence": "MGDHLDLLLGVVLMAGPVFGI", "length": 21, "header": "tr|B1AZ06-1|B1AZ06_HUMAN Computationally mapped isoform of Toll like receptor 5 OS=Homo sapiens OX=9606 GN=TLR5 PE=4 SV=1 CANONICAL=O60602-1" }, "locus": { "chromosome": "1", "start_pos": 223113031, "end_pos": 223112969, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000407096.6", "url": "https://www.ensembl.org/id/ENST00000407096.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000385458.2", "url": "https://www.ensembl.org/id/ENSP00000385458.2" } ] } }, { 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"https://www.uniprot.org/uniprot/O60602" }, { "database": "Reactome", "id": "R-HSA-168176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-168176" } ], "reference": [ { "type": "PubMed", "id": "11323673", "url": "https://glygen.org/publication/PubMed/11323673" } ] }, { "title": "Cutting edge: bacterial flagellin activates basolaterally expressed TLR5 to induce epithelial proinflammatory gene expression.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2001-08-15", "authors": "Gewirtz A T, Navas T A, Lyons S, Godowski P J, Madara J L", "evidence": [ { "database": "UniProtKB", "id": "O60602", "url": "https://www.uniprot.org/uniprot/O60602" } ], "reference": [ { "type": "PubMed", "id": "11489966", "url": "https://glygen.org/publication/PubMed/11489966" } ] }, { "title": "IRAK-4: a novel member of the IRAK family with the properties of an IRAK-kinase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Li S, Strelow A, Fontana EJ, Wesche H", "evidence": [ { "database": "Reactome", "id": "R-HSA-975871", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975871" } ], "reference": [ { "type": "PubMed", "id": "11960013", "url": "https://glygen.org/publication/PubMed/11960013" } ] }, { "title": "Identification of threonine 66 as a functionally critical residue of the interleukin-1 receptor-associated kinase.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Ross K, Yang L, Dower S, Volpe F, Guesdon F", "evidence": [ { "database": "Reactome", "id": "R-HSA-975871", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975871" } ], "reference": [ { "type": "PubMed", "id": "12138165", "url": "https://glygen.org/publication/PubMed/12138165" } ] }, { "title": "Distinct molecular mechanism for initiating TRAF6 signalling.", "journal": "Nature", "date": "2002", "authors": "Ye H, Arron JR, Lamothe B, Cirilli M, Kobayashi T, Shevde NK, Segal D, Dzivenu OK, Vologodskaia M, Yim M, Du K, Singh S, Pike JW, Darnay BG, Choi Y, Wu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-975871", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975871" } ], "reference": [ { "type": "PubMed", "id": "12140561", "url": "https://glygen.org/publication/PubMed/12140561" } ] }, { "title": "IRAK-4 as the central TIR signaling mediator in innate immunity.", "journal": "Trends in immunology", "date": "2002", "authors": "Suzuki N, Suzuki S, Yeh WC", "evidence": [ { "database": "Reactome", "id": "R-HSA-975871", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975871" } ], "reference": [ { "type": "PubMed", "id": "12297423", "url": "https://glygen.org/publication/PubMed/12297423" } ] }, { "title": "The adaptor molecule TIRAP provides signalling specificity for Toll-like receptors.", "journal": "Nature", "date": "2002", "authors": "Horng T, Barton GM, Flavell RA, Medzhitov R", "evidence": [ { "database": "Reactome", "id": "R-HSA-975871", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975871" } ], "reference": [ { "type": "PubMed", "id": "12447442", "url": "https://glygen.org/publication/PubMed/12447442" } ] }, { "title": "Pyogenic bacterial infections in humans with IRAK-4 deficiency.", "journal": "Science (New York, N.Y.)", "date": "2003", "authors": "Picard C, Puel A, Bonnet M, Ku CL, Bustamante J, Yang K, Soudais C, Dupuis S, Feinberg J, Fieschi C, Elbim C, Hitchcock R, Lammas D, Davies G, Al-Ghonaium A, Al-Rayes H, Al-Jumaah S, Al-Hajjar S, Al-Mohsen IZ, Frayha HH, Rucker R, Hawn TR, Aderem A, Tufenkeji H, Haraguchi S, Day NK, Good RA, Gougerot-Pocidalo MA, Ozinsky A, Casanova JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5603037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5603037" } ], "reference": [ { "type": "PubMed", "id": "12637671", "url": "https://glygen.org/publication/PubMed/12637671" } ] }, { "title": "Toll-like receptor (TLR) 2 and TLR5, but not TLR4, are required for Helicobacter pylori-induced NF-kappa B activation and chemokine expression by epithelial cells.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Smith MF Jr, Mitchell A, Li G, Ding S, Fitzmaurice AM, Ryan K, Crowe S, Goldberg JB", "evidence": [ { "database": "Reactome", "id": "R-HSA-168176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-168176" } ], "reference": [ { "type": "PubMed", "id": "12807870", "url": "https://glygen.org/publication/PubMed/12807870" } ] }, { "title": "A common dominant TLR5 stop codon polymorphism abolishes flagellin signaling and is associated with susceptibility to legionnaires' disease.", "journal": "The Journal of experimental medicine", "date": "2003", "authors": "Hawn TR, Verbon A, Lettinga KD, Zhao LP, Li SS, Laws RJ, Skerrett SJ, Beutler B, Schroeder L, Nachman A, Ozinsky A, Smith KD, Aderem A", "evidence": [ { "database": "UniProtKB", "id": "O60602", "url": "https://www.uniprot.org/uniprot/O60602" } ], "reference": [ { "type": "PubMed", "id": "14623910", "url": "https://glygen.org/publication/PubMed/14623910" } ] }, { "title": "Sequential autophosphorylation steps in the interleukin-1 receptor-associated kinase-1 regulate its availability as an adapter in interleukin-1 signaling.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kollewe C, Mackensen AC, Neumann D, Knop J, Cao P, Li S, Wesche H, Martin MU", "evidence": [ { "database": "Reactome", "id": "R-HSA-975871", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975871" } ], "reference": [ { "type": "PubMed", "id": "14625308", "url": "https://glygen.org/publication/PubMed/14625308" } ] }, { "title": "Inferences, questions and possibilities in Toll-like receptor signalling.", "journal": "Nature", "date": "2004", "authors": "Beutler B", "evidence": [ { "database": "Reactome", "id": "R-HSA-168176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-168176" } ], "reference": [ { "type": "PubMed", "id": "15241424", "url": "https://glygen.org/publication/PubMed/15241424" } ] }, { "title": "Signal peptide prediction based on analysis of experimentally verified cleavage sites.", "journal": "Protein Sci.", "date": "2004", "authors": "Zhang Z, Henzel WJ", "evidence": [ { "database": "UniProtKB", "id": "O60602", "url": "https://www.uniprot.org/uniprot/O60602" } ], "reference": [ { "type": "PubMed", "id": "15340161", "url": "https://glygen.org/publication/PubMed/15340161" } ] }, { "title": "A novel splice variant of interleukin-1 receptor (IL-1R)-associated kinase 1 plays a negative regulatory role in Toll/IL-1R-induced inflammatory signaling.", "journal": "Molecular and cellular biology", "date": "2005", "authors": "Rao N, Nguyen S, Ngo K, Fung-Leung WP", "evidence": [ { "database": "Reactome", "id": "R-HSA-975871", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975871" } ], "reference": [ { "type": "PubMed", "id": "16024789", "url": "https://glygen.org/publication/PubMed/16024789" } ] }, { "title": "A stop codon polymorphism of Toll-like receptor 5 is associated with resistance to systemic lupus erythematosus.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2005", "authors": "Hawn TR, Wu H, Grossman JM, Hahn BH, Tsao BP, Aderem A", "evidence": [ { "database": "UniProtKB", "id": "O60602", "url": "https://www.uniprot.org/uniprot/O60602" }, { "database": "RefSeq", "id": "NP_003259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003259" } ], "reference": [ { "type": "PubMed", "id": "16027372", "url": "https://glygen.org/publication/PubMed/16027372" } ] }, { "title": "AsialoGM1 and TLR5 cooperate in flagellin-induced nucleotide signaling to activate Erk1/2.", "journal": "American journal of respiratory cell and molecular biology", "date": "2006", "authors": "McNamara N, Gallup M, Sucher A, Maltseva I, McKemy D, Basbaum C", "evidence": [ { "database": "Reactome", "id": "R-HSA-168176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-168176" } ], "reference": [ { "type": "PubMed", "id": "16439799", "url": "https://glygen.org/publication/PubMed/16439799" } ] }, { "title": "Regulation of IRAK-4 kinase activity via autophosphorylation within its activation loop.", "journal": "Biochemical and biophysical research communications", "date": "2007", "authors": "Cheng H, Addona T, Keshishian H, Dahlstrand E, Lu C, Dorsch M, Li Z, Wang A, Ocain TD, Li P, Parsons TF, Jaffee B, Xu Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-975871", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975871" } ], "reference": [ { "type": "PubMed", "id": "17141195", "url": "https://glygen.org/publication/PubMed/17141195" } ] }, { "title": "A phosphorylation site in the Toll-like receptor 5 TIR domain is required for inflammatory signalling in response to flagellin.", "journal": "Biochemical and biophysical research communications", "date": "2007", "authors": "Ivison SM, Khan MA, Graham NR, Bernales CQ, Kaleem A, Tirling CO, Cherkasov A, Steiner TS", "evidence": [ { "database": "UniProtKB", "id": "O60602", "url": "https://www.uniprot.org/uniprot/O60602" }, { "database": "iPTMnet", "id": "O60602", "url": 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medicine", "date": "2007", "authors": "Kawagoe T, Sato S, Jung A, Yamamoto M, Matsui K, Kato H, Uematsu S, Takeuchi O, Akira S", "evidence": [ { "database": "Reactome", "id": "R-HSA-975871", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975871" } ], "reference": [ { "type": "PubMed", "id": "17485511", "url": "https://glygen.org/publication/PubMed/17485511" } ] }, { "title": "Association study of Toll-like receptor 5 (TLR5) and Toll-like receptor 9 (TLR9) polymorphisms in systemic lupus erythematosus.", "journal": "The Journal of rheumatology", "date": "2007", "authors": "Demirci FY, Manzi S, Ramsey-Goldman R, Kenney M, Shaw PS, Dunlop-Thomas CM, Kao AH, Rhew EY, Bontempo F, Kammerer C, Kamboh MI", "evidence": [ { "database": "RefSeq", "id": "NP_003259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003259" } ], "reference": [ { "type": "PubMed", "id": "17516623", "url": "https://glygen.org/publication/PubMed/17516623" } ] }, { "title": "TLR9 activation induces normal neutrophil responses in a child with IRAK-4 deficiency: involvement of the direct PI3K pathway.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2007", "authors": "Hoarau C, Gerard B, Lescanne E, Henry D, Francois S, Lacapere JJ, El Benna J, Dang PM, Grandchamp B, Lebranchu Y, Gougerot-Pocidalo MA, Elbim C", "evidence": [ { "database": "Reactome", "id": "R-HSA-5603037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5603037" } ], "reference": [ { "type": "PubMed", "id": "17878374", "url": "https://glygen.org/publication/PubMed/17878374" } ] }, { "title": "IRAK1: a critical signaling mediator of innate immunity.", "journal": "Cellular signalling", "date": "2008", "authors": "Gottipati S, Rao NL, Fung-Leung WP", "evidence": [ { "database": "Reactome", "id": "R-HSA-975871", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975871" } ], "reference": [ { "type": "PubMed", "id": "17890055", "url": "https://glygen.org/publication/PubMed/17890055" } ] }, { "title": "Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity.", "journal": "The Journal of experimental medicine", "date": "2007", "authors": "Ku CL, von Bernuth H, Picard C, Zhang SY, Chang HH, Yang K, Chrabieh M, Issekutz AC, Cunningham CK, Gallin J, Holland SM, Roifman C, Ehl S, Smart J, Tang M, Barrat FJ, Levy O, McDonald D, Day-Good NK, Miller R, Takada H, Hara T, Al-Hajjar S, Al-Ghonaium A, Speert D, Sanlaville D, Li X, Geissmann F, Vivier E, Marodi L, Garty BZ, Chapel H, Rodriguez-Gallego C, Bossuyt X, Abel L, Puel A, Casanova JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5603037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5603037" } ], "reference": [ { "type": "PubMed", "id": "17893200", "url": "https://glygen.org/publication/PubMed/17893200" } ] }, { "title": "TRAF6 distinctively mediates MyD88- and IRAK-1-induced activation of NF-kappaB.", "journal": 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1950)", "date": "2008-06-01", "authors": "Blohmke Christoph J, Victor Rachel E, Hirschfeld Aaron F, Elias Isaac M, Hancock David G, Lane Cheryl R, Davidson A George F, Wilcox Pearce G, Smith Kelly D, Overhage Joerg, Hancock Robert E W, Turvey Stuart E", "evidence": [ { "database": "UniProtKB", "id": "O60602", "url": "https://www.uniprot.org/uniprot/O60602" } ], "reference": [ { "type": "PubMed", "id": "18490781", "url": "https://glygen.org/publication/PubMed/18490781" } ] }, { "title": "Pyogenic bacterial infections in humans with MyD88 deficiency.", "journal": "Science (New York, N.Y.)", "date": "2008", "authors": "von Bernuth H, Picard C, Jin Z, Pankla R, Xiao H, Ku CL, Chrabieh M, Mustapha IB, Ghandil P, Camcioglu Y, Vasconcelos J, Sirvent N, Guedes M, Vitor AB, Herrero-Mata MJ, Arostegui JI, Rodrigo C, Alsina L, Ruiz-Ortiz E, Juan M, Fortuny C, Yague J, Anton J, Pascal M, Chang HH, Janniere L, Rose Y, Garty BZ, Chapel H, Issekutz A, Marodi L, Rodriguez-Gallego C, Banchereau J, Abel 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Biol. 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Immunol.", "date": "2013", "authors": "West T Eoin, Chantratita Narisara, Chierakul Wirongrong, Limmathurotsakul Direk, Wuthiekanun Vanaporn, Myers Nicolle D, Emond Mary J, Wurfel Mark M, Hawn Thomas R, Peacock Sharon J, Skerrett Shawn J", "evidence": [ { "database": "UniProtKB", "id": "O60602", "url": "https://www.uniprot.org/uniprot/O60602" } ], "reference": [ { "type": "PubMed", "id": "23447684", "url": "https://glygen.org/publication/PubMed/23447684" } ] }, { "title": "Functional assessment of the mutational effects of human IRAK4 and MyD88 genes.", "journal": "Molecular immunology", "date": "2014", "authors": "Yamamoto T, Tsutsumi N, Tochio H, Ohnishi H, Kubota K, Kato Z, Shirakawa M, Kondo N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5603037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5603037" } ], "reference": [ { "type": "PubMed", "id": "24316379", "url": "https://glygen.org/publication/PubMed/24316379" } ] }, { "title": "UNC93B1 is essential for the plasma membrane localization and signaling of Toll-like receptor 5.", "journal": "Proc. 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Natl. Acad. Sci. U.S.A.", "date": "1998", "authors": "Rock FL, Hardiman G, Timans JC, Kastelein RA, Bazan JF", "evidence": [ { "database": "UniProtKB", "id": "O60602", "url": "https://www.uniprot.org/uniprot/O60602" } ], "reference": [ { "type": "PubMed", "id": "9435236", "url": "https://glygen.org/publication/PubMed/9435236" } ] }, { "title": "Cloning and characterization of two Toll/Interleukin-1 receptor-like genes TIL3 and TIL4: evidence for a multi-gene receptor family in humans.", "journal": "Blood", "date": "1998", "authors": "Chaudhary PM, Ferguson C, Nguyen V, Nguyen O, Massa HF, Eby M, Jasmin A, Trask BJ, Hood L, Nelson PS", "evidence": [ { "database": "UniProtKB", "id": "O60602", "url": "https://www.uniprot.org/uniprot/O60602" } ], "reference": [ { "type": "PubMed", "id": "9596645", "url": "https://glygen.org/publication/PubMed/9596645" } ] } ], "pathway": [ { "id": "hsa:7100", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7100", "resource": "KEGG Pathway" }, 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