{ "uniprot_canonical_ac": "O00206-1", "uniprot_ac": "O00206", "uniprot_id": "TLR4_HUMAN", "mass": { "chemical_mass": 95680.0, "monoisotopic_mass": 95680.0 }, "refseq": { "ac": "NP_003257", "name": "toll-like receptor 4 isoform C", "summary": "The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. In silico studies have found a particularly strong binding of surface TLR4 with the spike protein of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the causative agent of Coronavirus disease-2019 (COVID-19). This receptor has also been implicated in signal transduction events induced by lipopolysaccharide (LPS) found in most gram-negative bacteria. Mutations in this gene have been associated with differences in LPS responsiveness, and with susceptibility to age-related macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2020].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003257" }, "gene_names": [ { "name": "TLR4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00206", "id": "O00206" }, { "name": "ARMD10; CD284; TLR-4; TOLL", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003257", "id": "NP_003257" }, { "name": "TLR4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003257", "id": "NP_003257" } ], "protein_names": [ { "name": "Toll-like receptor 4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00206" }, { "name": "hToll", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00206" }, { "name": "homolog of Drosophila toll; hToll; toll like receptor 4 protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003257", "id": "NP_003257" }, { "name": "toll-like receptor 4 isoform C", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003257", "id": "NP_003257" } ], "function": [ { "annotation": "Circ_0099630 knockdown alleviates lipopolysaccharide-induced injuries of human periodontal ligament cells through the inhibition of TLR4 by releasing miR-409-3p. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003257" }, { "database": "PubMed", "id": "38007427", "url": "https://glygen.org/publication/PubMed/38007427" } ] }, { "annotation": "Divergent mechanisms regulate TLR4 expression on peripheral blood mononuclear cells following workload-matched exercise in normoxic and hypoxic environments.", "evidence": [ { "database": "RefSeq", "id": "NP_003257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003257" }, { "database": "PubMed", "id": "37994415", "url": "https://glygen.org/publication/PubMed/37994415" } ] }, { "annotation": "Examination of a variant as candidate gene for age related macular degeneration susceptibility GeneRIF: Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_003257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003257" }, { "database": "PubMed", "id": "15829498", "url": "https://glygen.org/publication/PubMed/15829498" } ] }, { "annotation": "Single-nucleotide polymorphisms of TLR4 and GAS7 linked to primary open-angle glaucoma among patients of Shenyang, China.", "evidence": [ { "database": "RefSeq", "id": "NP_003257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003257" }, { "database": "PubMed", "id": "38240248", "url": "https://glygen.org/publication/PubMed/38240248" } ] }, { "annotation": "Taenia solium excretory secretory proteins (ESPs) suppresses TLR4/AKT mediated ROS formation in human macrophages via hsa-miR-125. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003257" }, { "database": "PubMed", "id": "38157380", "url": "https://glygen.org/publication/PubMed/38157380" } ] }, { "annotation": "The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. In silico studies have found a particularly strong binding of surface TLR4 with the spike protein of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the causative agent of Coronavirus disease-2019 (COVID-19). This receptor has also been implicated in signal transduction events induced by lipopolysaccharide (LPS) found in most gram-negative bacteria. Mutations in this gene have been associated with differences in LPS responsiveness, and with susceptibility to age-related macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2020].", "evidence": [ { "database": "RefSeq", "id": "NP_003257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003257" } ] }, { "annotation": "Transmembrane receptor that functions as a pattern recognition receptor recognizing pathogen- and damage-associated molecular patterns (PAMPs and DAMPs) to induce innate immune responses via downstream signaling pathways (PubMed:16622205, PubMed:10835634, PubMed:15809303, PubMed:17478729, PubMed:20037584, PubMed:20711192, PubMed:23880187, PubMed:27022195, PubMed:17292937, PubMed:29038465). At the plasma membrane, cooperates with LY96 to mediate the innate immune response to bacterial lipopolysaccharide (LPS) (PubMed:27022195). Also involved in LPS-independent inflammatory responses triggered by free fatty acids, such as palmitate, and Ni(2+) (PubMed:20711192). Mechanistically, acts via MYD88, TIRAP and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (PubMed:9237759, PubMed:10835634, PubMed:27022195, PubMed:21393102). Alternatively, CD14-mediated TLR4 internalization via endocytosis is associated with the initiation of a MYD88-independent signaling via the TICAM1-TBK1-IRF3 axis leading to type I interferon production (PubMed:14517278). In addition to the secretion of proinflammatory cytokines, initiates the activation of NLRP3 inflammasome and formation of a positive feedback loop between autophagy and NF-kappa-B signaling cascade (PubMed:32894580). In complex with TLR6, promotes inflammation in monocytes/macrophages by associating with TLR6 and the receptor CD86 (PubMed:23880187). Upon ligand binding, such as oxLDL or amyloid-beta 42, the TLR4:TLR6 complex is internalized and triggers inflammatory response, leading to NF-kappa-B-dependent production of CXCL1, CXCL2 and CCL9 cytokines, via MYD88 signaling pathway, and CCL5 cytokine, via TICAM1 signaling pathway (PubMed:23880187). In myeloid dendritic cells, vesicular stomatitis virus glycoprotein G but not LPS promotes the activation of IRF7, leading to type I IFN production in a CD14-dependent manner (PubMed:23880187, PubMed:15265881). Required for the migration-promoting effects of ZG16B/PAUF on pancreatic cancer cells.", "evidence": [ { "database": "UniProtKB", "id": "O00206", "url": "https://www.uniprot.org/uniprot/O00206#function" }, { "database": "PubMed", "id": "23880187", "url": "https://glygen.org/publication/PubMed/23880187" }, { "database": "PubMed", "id": "9237759", "url": "https://glygen.org/publication/PubMed/9237759" }, { "database": "PubMed", "id": "20711192", "url": "https://glygen.org/publication/PubMed/20711192" }, { "database": "PubMed", "id": "20037584", "url": "https://glygen.org/publication/PubMed/20037584" }, { "database": "PubMed", "id": "10835634", "url": "https://glygen.org/publication/PubMed/10835634" }, { "database": "PubMed", "id": "27022195", "url": "https://glygen.org/publication/PubMed/27022195" }, { "database": "PubMed", "id": "16622205", "url": "https://glygen.org/publication/PubMed/16622205" }, { "database": "PubMed", "id": "15809303", "url": "https://glygen.org/publication/PubMed/15809303" }, { "database": "PubMed", "id": "17478729", "url": "https://glygen.org/publication/PubMed/17478729" }, { "database": "PubMed", "id": "29038465", "url": "https://glygen.org/publication/PubMed/29038465" }, { "database": "PubMed", "id": "14517278", "url": "https://glygen.org/publication/PubMed/14517278" }, { "database": "PubMed", "id": "17292937", "url": "https://glygen.org/publication/PubMed/17292937" }, { "database": "PubMed", "id": "15265881", "url": "https://glygen.org/publication/PubMed/15265881" } ] }, { "annotation": "Variant rs4986790 of toll-like receptor 4 affects the signaling and induces cell dysfunction in patients with severe COVID-19.", "evidence": [ { "database": "RefSeq", "id": "NP_003257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003257" }, { "database": "PubMed", "id": "38029833", "url": "https://glygen.org/publication/PubMed/38029833" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1441084781", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1441084781" }, { "id": "rs1441084781", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1441084781" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 139, "end_pos": 139, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLA->NLS).", "chr_id": "9", "chr_pos": "117712543", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A139", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1441084781", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1441084781" }, { "id": "rs1441084781", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1441084781" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 139, "end_pos": 139, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLA->NLT).", "chr_id": "9", "chr_pos": "117712543", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A139", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00206", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00206" }, { "id": "rs1286055523", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1286055523" }, { "id": "rs1286055523", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1286055523" }, { "id": "rs1286055523", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1286055523" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 158, "end_pos": 158, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NVA->NVS).", "chr_id": "9", "chr_pos": "117712600", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A158", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial 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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": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00206", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00206" } ], "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/O00206" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O00206", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00206" } ], "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", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", 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"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": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O00206", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00206" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": 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"MELNFYKIPDNLPFSTKNLDLSFNPLRHLGSYSFFSFPELQVLDLSRCEIQTIEDGAYQSLSHLSTLILTGNPIQSLALGAFSGLSSLQKLVAVETNLASLENFPIGHLKTLKELNVAHNLIQSFKLPEYFSNLTNLEHLDLSSNKIQSIYCTDLRVLHQMPLLNLSLDLSLNPMNFIQPGAFKEIRLHKLTLRNNFDSLNVMKTCIQGLAGLEVHRLVLGEFRNEGNLEKFDKSALEGLCNLTIEEFRLAYLDYYLDDIIDLFNCLTNVSSFSLVSVTIERVKDFSYNFGWQHLELVNCKFGQFPTLKLKSLKRLTFTSNKGGNAFSEVDLPSLEFLDLSRNGLSFKGCCSQSDFGTTSLKYLDLSFNGVITMSSNFLGLEQLEHLDFQHSNLKQMSEFSVFLSLRNLIYLDISHTHTRVAFNGIFNGLSSLEVLKMAGNSFQENFLPDIFTELRNLTFLDLSQCQLEQLSPTAFNSLSSLQVLNMSHNNFFSLDTFPYKCLNSLQVLDYSLNHIMTSKKQELQHFPSSLAFLNLTQNDFACTCEHQSFLQWIKDQRQLLVEVERMECATPSDKQGMPVLSLNITCQMNKTIIGVSVLSVLVVSVVAVLVYKFYFHLMLLAGCIKYGRGENIYDAFVIYSSQDEDWVRNELVKNLEEGVPPFQLCLHYRDFIPGVAIAANIIHEGFHKSRKVIVVVSQHFIQSRWCIFEYEIAQTWQFLSSRAGIIFIVLQKVEKTLLRQQVELYRLLSRNTYLEWEDSVLGRHIFWRRLRKALLDGKSWNPEGTVGTGCNWQEATSI", "length": 799, "header": "sp|O00206-2|TLR4_HUMAN Isoform 2 of Toll-like receptor 4 OS=Homo sapiens OX=9606 GN=TLR4 PE=1 SV=2 CANONICAL=O00206-1" }, "locus": { "chromosome": "9", "start_pos": 117714645, "end_pos": 117708590, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000394487.5", "url": "https://www.ensembl.org/id/ENST00000394487.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000377997.4", "url": "https://www.ensembl.org/id/ENSP00000377997.4" } ] } }, { "isoform_ac": "O00206-3", "url": "", "sequence": { "sequence": "MPLLNLSLDLSLNPMNFIQPGAFKEIRLHKLTLRNNFDSLNVMKTCIQGLAGLEVHRLVLGEFRNEGNLEKFDKSALEGLCNLTIEEFRLAYLDYYLDDIIDLFNCLTNVSSFSLVSVTIERVKDFSYNFGWQHLELVNCKFGQFPTLKLKSLKRLTFTSNKGGNAFSEVDLPSLEFLDLSRNGLSFKGCCSQSDFGTTSLKYLDLSFNGVITMSSNFLGLEQLEHLDFQHSNLKQMSEFSVFLSLRNLIYLDISHTHTRVAFNGIFNGLSSLEVLKMAGNSFQENFLPDIFTELRNLTFLDLSQCQLEQLSPTAFNSLSSLQVLNMSHNNFFSLDTFPYKCLNSLQVLDYSLNHIMTSKKQELQHFPSSLAFLNLTQNDFACTCEHQSFLQWIKDQRQLLVEVERMECATPSDKQGMPVLSLNITCQMNKTIIGVSVLSVLVVSVVAVLVYKFYFHLMLLAGCIKYGRGENIYDAFVIYSSQDEDWVRNELVKNLEEGVPPFQLCLHYRDFIPGVAIAANIIHEGFHKSRKVIVVVSQHFIQSRWCIFEYEIAQTWQFLSSRAGIIFIVLQKVEKTLLRQQVELYRLLSRNTYLEWEDSVLGRHIFWRRLRKALLDGKSWNPEGTVGTGCNWQEATSI", "length": 639, "header": "sp|O00206-3|TLR4_HUMAN Isoform 3 of Toll-like receptor 4 OS=Homo sapiens OX=9606 GN=TLR4 PE=1 SV=2 CANONICAL=O00206-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 173, "start_aa": "Asn", "end_pos": 173, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn173", "evidence": [ { "id": "O00206", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00206#ptm_processing" }, { "id": "19252480", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19252480" }, { "id": "17803912", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17803912" }, { "id": "22363519", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22363519" }, { "id": "11706042", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11706042" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 205, "start_aa": "Asn", "end_pos": 205, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn205", "evidence": [ { "id": "O00206", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00206#ptm_processing" }, { "id": "19252480", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19252480" }, { "id": "17803912", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17803912" }, { "id": "11706042", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11706042" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 282, "start_aa": "Asn", "end_pos": 282, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn282", "evidence": [ { "id": "O00206", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00206#ptm_processing" }, { "id": "11706042", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11706042" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 309, "start_aa": "Asn", "end_pos": 309, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn309", "evidence": [ { "id": "O00206", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00206#ptm_processing" }, { "id": "11706042", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11706042" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 35, "start_aa": "Asn", "end_pos": 35, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn35", "evidence": [ { "id": "O00206", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00206#ptm_processing" }, { "id": "17803912", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17803912" }, { "id": "22363519", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22363519" }, { "id": "11706042", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11706042" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 497, "start_aa": "Asn", "end_pos": 497, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn497", "evidence": [ { "id": "O00206", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00206#ptm_processing" }, { "id": "19252480", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19252480" }, { "id": "11706042", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11706042" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 526, "start_aa": "Asn", "end_pos": 526, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn526", "evidence": [ { "id": "O00206", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00206#ptm_processing" }, { "id": "11706042", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11706042" }, { "id": "19252480", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19252480" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 575, "start_aa": "Asn", "end_pos": 575, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn575", "evidence": [ { "id": "O00206", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00206#ptm_processing" }, { "id": "11706042", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11706042" }, { "id": "19252480", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19252480" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 624, "start_aa": "Asn", "end_pos": 624, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn624", "evidence": [ { "id": "O00206", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00206#ptm_processing" }, { "id": "11706042", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11706042" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 630, "start_aa": "Asn", "end_pos": 630, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn630", "evidence": [ { "id": "O00206", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00206#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O00206", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00206" }, { "id": "37817319", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37817319" } ] } ], "phosphorylation": [ { "start_pos": 730, "end_pos": 730, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00206", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00206" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ], "site_lbl": "Ser730" }, { "start_pos": 790, "end_pos": 790, "kinase_uniprot_canonical_ac": "Q15139-1", "kinase_gene_name": "PRKD1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00206", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00206" }, { "database": "PubMed", "id": "20557879", "url": "https://glygen.org/publication/PubMed/20557879" } ], "site_lbl": "Ser790" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported", "glycoprotein_predicted", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Lipopolysaccharide-coated erythrocytes activate human neutrophils via CD14 while subsequent binding is through CD11b/CD18.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1999", "authors": "Troelstra A, de Graaf-Miltenburg LA, van Bommel T, Verhoef J, Van Kessel KP, Van Strijp JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-166016", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166016" } ], "reference": [ { "type": "PubMed", "id": "10201950", "url": "https://glygen.org/publication/PubMed/10201950" } ] }, { "title": "Kinetics of hemin distribution in plasma reveals its role in lipoprotein oxidation.", "journal": "Biochimica et biophysica acta", "date": "1999", "authors": "Miller YI, Shaklai N", "evidence": [ { "database": "Reactome", "id": "R-HSA-9707616", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9707616" } ], "reference": [ { "type": "PubMed", "id": "10381560", "url": "https://glygen.org/publication/PubMed/10381560" } ] }, { "title": "ECSIT is an evolutionarily conserved intermediate in the Toll/IL-1 signal transduction pathway.", "journal": "Genes & development", "date": "1999", "authors": "Kopp E, Medzhitov R, Carothers J, Xiao C, Douglas I, Janeway CA, Ghosh S", "evidence": [ { "database": "Reactome", "id": "R-HSA-166058", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166058" } ], "reference": [ { "type": "PubMed", "id": "10465784", "url": "https://glygen.org/publication/PubMed/10465784" } ] }, { "title": "TAK1 mitogen-activated protein kinase kinase kinase is activated by autophosphorylation within its activation loop.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Kishimoto K, Matsumoto K, Ninomiya-Tsuji J", "evidence": [ { "database": "Reactome", "id": "R-HSA-937072", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-937072" } ], "reference": [ { "type": "PubMed", "id": "10702308", "url": "https://glygen.org/publication/PubMed/10702308" } ] }, { "title": "TLR4 mutations are associated with endotoxin hyporesponsiveness in humans.", "journal": "Nature genetics", "date": "2000", "authors": "Arbour NC, Lorenz E, Schutte BC, Zabner J, Kline JN, Jones M, Frees K, Watt JL, Schwartz DA", "evidence": [ { "database": "UniProtKB", "id": "O00206", "url": "https://www.uniprot.org/uniprot/O00206" } ], "reference": [ { "type": "PubMed", "id": "10835634", "url": "https://glygen.org/publication/PubMed/10835634" } ] }, { "title": "TAB2, a novel adaptor protein, mediates activation of TAK1 MAPKKK by linking TAK1 to TRAF6 in the IL-1 signal transduction pathway.", "journal": "Molecular cell", "date": "2000", "authors": "Takaesu G, Kishida S, Hiyama A, Yamaguchi K, Shibuya H, Irie K, Ninomiya-Tsuji J, Matsumoto K", "evidence": [ { "database": "Reactome", "id": "R-HSA-937072", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-937072" } ], "reference": [ { "type": "PubMed", "id": "10882101", "url": "https://glygen.org/publication/PubMed/10882101" } ] }, { "title": "Activation of the IkappaB kinase complex by TRAF6 requires a dimeric ubiquitin-conjugating enzyme complex and a unique polyubiquitin chain.", "journal": "Cell", "date": "2000", "authors": "Deng L, Wang C, Spencer E, Yang L, Braun A, You J, Slaughter C, Pickart C, Chen ZJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-937072", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-937072" } ], "reference": [ { "type": "PubMed", "id": "11057907", "url": "https://glygen.org/publication/PubMed/11057907" } ] }, { "title": "Structural basis for signal transduction by the Toll/interleukin-1 receptor domains.", "journal": "Nature", "date": "2000", "authors": "Xu Y, Tao X, Shen B, Horng T, Medzhitov R, Manley JL, Tong L", "evidence": [ { "database": "UniProtKB", "id": "O00206", "url": "https://www.uniprot.org/uniprot/O00206" } ], "reference": [ { "type": "PubMed", "id": "11081518", "url": "https://glygen.org/publication/PubMed/11081518" } ] }, { "title": "Phylogenetic variation and polymorphism at the toll-like receptor 4 locus (TLR4).", "journal": "Genome biology", "date": "2000", "authors": "Smirnova I, Poltorak A, Chan EK, McBride C, Beutler B", "evidence": [ { "database": "UniProtKB", "id": "O00206", "url": "https://www.uniprot.org/uniprot/O00206" } ], "reference": [ { "type": "PubMed", "id": "11104518", "url": "https://glygen.org/publication/PubMed/11104518" } ] }, { "title": "Lipopolysaccharide is in close proximity to each of the proteins in its membrane receptor complex. transfer from CD14 to TLR4 and MD-2.", "journal": "J. Biol. Chem.", "date": "2001", "authors": "da Silva Correia J, Soldau K, Christen U, Tobias PS, Ulevitch RJ", "evidence": [ { "database": "UniProtKB", "id": "O00206", "url": "https://www.uniprot.org/uniprot/O00206" }, { "database": "Reactome", "id": "R-HSA-166016", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166016" } ], "reference": [ { "type": "PubMed", "id": "11274165", "url": "https://glygen.org/publication/PubMed/11274165" } ] }, { "title": "Heme mediates derepression of Maf recognition element through direct binding to transcription repressor Bach1.", "journal": "The EMBO journal", "date": "2001", "authors": "Ogawa K, Sun J, Taketani S, Nakajima O, Nishitani C, Sassa S, Hayashi N, Yamamoto M, Shibahara S, Fujita H, Igarashi K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9707616", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9707616" } ], "reference": [ { "type": "PubMed", "id": "11387216", "url": "https://glygen.org/publication/PubMed/11387216" } ] }, { "title": "CX3C chemokine mimicry by respiratory syncytial virus G glycoprotein.", "journal": "Nature immunology", "date": "2001-08", "authors": "Tripp R A, Jones L P, Haynes L M, Zheng H, Murphy P M, Anderson L J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9820960", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9820960" } ], "reference": [ { "type": "PubMed", "id": "11477410", "url": "https://glygen.org/publication/PubMed/11477410" } ] }, { "title": "Fibrinogen stimulates macrophage chemokine secretion through toll-like receptor 4.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2001", "authors": "Smiley ST, King JA, Hancock WW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5686938", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5686938" } ], "reference": [ { "type": "PubMed", "id": "11509636", "url": "https://glygen.org/publication/PubMed/11509636" } ] }, { "title": "Excess of rare amino acid polymorphisms in the Toll-like 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by Toll-like receptor 3.", "journal": "Nature", "date": "2001", "authors": "Alexopoulou L, Holt AC, Medzhitov R, Flavell RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833110", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833110" } ], "reference": [ { "type": "PubMed", "id": "11607032", "url": "https://glygen.org/publication/PubMed/11607032" } ] }, { "title": "MD-2 and TLR4 N-linked glycosylations are important for a functional lipopolysaccharide receptor.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "da Silva Correia J, Ulevitch RJ", "evidence": [ { "database": "UniProtKB", "id": "O00206", "url": "https://www.uniprot.org/uniprot/O00206#ptm_processing" }, { "database": "UniProtKB", "id": "O00206", "url": "https://www.uniprot.org/uniprot/O00206" } ], "reference": [ { "type": "PubMed", "id": "11706042", "url": "https://glygen.org/publication/PubMed/11706042" } ] }, { "title": "Surfactant protein A inhibits peptidoglycan-induced 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"name": "positive regulation of MAP kinase activity", "id": "GO:0043406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043406", "evidence": [ { "database": "UniProtKB", "id": "O00206", "url": "https://www.uniprot.org/uniprot/O00206" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "O00206", "url": "https://www.uniprot.org/uniprot/O00206" } ], "pmid": "" }, { "name": "B cell proliferation involved in immune response", "id": "GO:0002322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002322", "evidence": [ { "database": "UniProtKB", "id": "O00206", "url": "https://www.uniprot.org/uniprot/O00206" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "O00206", "url": "https://www.uniprot.org/uniprot/O00206" } ], "pmid": "" }, { "name": "ERK1 and ERK2 cascade", "id": "GO:0070371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070371", "evidence": [ { "database": "UniProtKB", "id": "O00206", "url": "https://www.uniprot.org/uniprot/O00206" } ], "pmid": "" }, { "name": "negative regulation of ERK1 and ERK2 cascade", "id": "GO:0070373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070373", "evidence": [ { "database": "UniProtKB", "id": "O00206", "url": "https://www.uniprot.org/uniprot/O00206" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001238", "evidence": [ { "database": "UniProtKB", "id": "O00206", "url": "https://www.uniprot.org/uniprot/O00206" } ], "pmid": "" }, { "name": "positive regulation of tumor necrosis factor production", "id": "GO:0032760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032760", "evidence": [ { "database": 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"pmid": "" }, { "name": "cellular response to oxidised low-density lipoprotein particle stimulus", "id": "GO:0140052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140052", "evidence": [ { "database": "UniProtKB", "id": "O00206", "url": "https://www.uniprot.org/uniprot/O00206" } ], "pmid": "" }, { "name": "astrocyte development", "id": "GO:0014002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014002", "evidence": [ { "database": "UniProtKB", "id": "O00206", "url": "https://www.uniprot.org/uniprot/O00206" } ], "pmid": "" }, { "name": "nitric oxide production involved in inflammatory response", "id": "GO:0002537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002537", "evidence": [ { "database": "UniProtKB", "id": "O00206", "url": "https://www.uniprot.org/uniprot/O00206" } ], "pmid": "" }, { "name": "I-kappaB phosphorylation", "id": "GO:0007252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007252", "evidence": [ { "database": "UniProtKB", "id": "O00206", "url": 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