{ "uniprot_canonical_ac": "P07359-1", "uniprot_ac": "P07359", "uniprot_id": "GP1BA_HUMAN", "mass": { "chemical_mass": 71540.0, "monoisotopic_mass": 71540.0 }, "refseq": { "ac": "NP_000164", "name": "platelet glycoprotein Ib alpha chain precursor", "summary": "Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000164" }, "gene_names": [ { "name": "GP1BA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P07359", "id": "P07359" }, { "name": "BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha; DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000164", "id": "NP_000164" }, { "name": "GP1BA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000164", "id": "NP_000164" } ], "protein_names": [ { "name": "Platelet glycoprotein Ib alpha chain", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P07359" }, { "name": "Antigen CD42b-alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07359" }, { "name": "GP-Ib alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07359" }, { "name": "GPIb-alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07359" }, { "name": "GPIbA", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07359" }, { "name": "Glycoprotein Ibalpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07359" }, { "name": "platelet glycoprotein Ib alpha chain precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000164", "id": "NP_000164" }, { "name": "platelet membrane glycoprotein 1b-alpha subunit; platelet glycoprotein Ib alpha chain; glycoprotein Ib platelet alpha subunit; GP-Ib alpha; glycoprotein Ib (platelet), alpha polypeptide; antigen CD42b-alpha; platelet membrane glycoprotein Ib-alpha; mutant platelet membrane glycoprotein Ib-alpha", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000164", "id": "NP_000164" } ], "function": [ { "annotation": "Comprehensive analysis of platelet glycoprotein Ibalpha ectodomain glycosylation.", "evidence": [ { "database": "RefSeq", "id": "NP_000164", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000164" }, { "database": "PubMed", "id": "36740532", "url": "https://glygen.org/publication/PubMed/36740532" } ] }, { "annotation": "GP-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to the A1 domain of vWF, which is already bound to the subendothelium.", "evidence": [ { "database": "UniProtKB", "id": "P07359", "url": "https://www.uniprot.org/uniprot/P07359#function" } ] }, { "annotation": "Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_000164", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000164" } ] }, { "annotation": "Integrated Proteomics and Metabolomics Analyses of Serum in Chinese Patients with Severe and Active Graves' Orbitopathy: A Cross-sectional Study.", "evidence": [ { "database": "RefSeq", "id": "NP_000164", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000164" }, { "database": "PubMed", "id": "36809953", "url": "https://glygen.org/publication/PubMed/36809953" } ] }, { "annotation": "Low alpha-Thrombin/GPIbalpha Interaction Is a Potential Contributor to Platelet Hyper-reactivity in COVID-19 Patients.", "evidence": [ { "database": "RefSeq", "id": "NP_000164", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000164" }, { "database": "PubMed", "id": "37044132", "url": "https://glygen.org/publication/PubMed/37044132" } ] }, { "annotation": "Low alpha-thrombin/GPIb-alpha interaction may contribute to platelet hyperreactivity in COVID-19 patients", "evidence": [ { "database": "RefSeq", "id": "NP_000164", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000164" }, { "database": "PubMed", "id": "37857294", "url": "https://glygen.org/publication/PubMed/37857294" } ] } ], "disease": [ { "disease_id": "DOID:0111056", "recommended_name": { "id": "DOID:0111056", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111056", "name": "platelet-type bleeding disorder 3", "description": "A blood platelet disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has_material_basis_in mutation in the GP1BA gene on chromosome 17p13.2." }, "synonyms": [ { "id": "DOID:0111056", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111056", "name": "BDPLT3", "description": "" }, { "id": "DOID:0111056", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111056", "name": "PT-VWD", "description": "" }, { "id": "DOID:0111056", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111056", "name": "platelet type-von Willebrand disease", "description": "" }, { "id": "DOID:0111056", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111056", "name": "pseudo-von Willebrand disease", "description": "" }, { "id": "DOID:0111056", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111056", "name": "von Willebrand disease platelet-type", "description": "" }, { "id": "MONDO:0008332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008332", "name": "platelet-type von Willebrand disease", "description": "A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia." }, { "id": "MONDO:0008332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008332", "name": "BDPLT3", "description": "" }, { "id": "MONDO:0008332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008332", "name": "PT-VWD", "description": "" }, { "id": "MONDO:0008332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008332", "name": "platelet type-von Willebrand disease", "description": "" }, { "id": "MONDO:0008332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008332", "name": "platelet-type von Willebrand disease", "description": "" }, { "id": "MONDO:0008332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008332", "name": "pseudo-von Willebrand disease", "description": "" }, { "id": "MONDO:0008332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008332", "name": "pseudo-von Willebrand disease type 2B", "description": "" }, { "id": "MONDO:0008332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008332", "name": "von Willebrand disease platelet-type", "description": "" }, { "id": "MONDO:0008332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008332", "name": "VWDP", "description": "" }, { "id": "MONDO:0008332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008332", "name": "Von Willebrand disease, Platelet-type", "description": "" }, { "id": "MONDO:0008332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008332", "name": "Von Willebrand disease, platelet type", "description": "" }, { "id": "MONDO:0008332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008332", "name": "bleeding disorder, Platelet-type, 3", "description": "" }, { "id": "MONDO:0008332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008332", "name": "platelet-type bleeding disorder 3", "description": "" }, { "id": "MONDO:0008332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008332", "name": "pseudo-VON WILLEBRAND disease", "description": "" }, { "id": "MIM:177820", "resource": "MIM", "url": "https://www.omim.org/entry/177820", "name": "Pseudo-von Willebrand disease", "description": "Pseudo-von Willebrand disease" } ], "evidence": [ { "id": "177820", "database": "MIM", "url": "https://www.omim.org/entry/177820" } ] }, { "disease_id": "DOID:0111059", "recommended_name": { "id": "DOID:0111059", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111059", "name": "Bernard-Soulier syndrome type A2", "description": "A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has_material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p." }, "synonyms": [ { "id": "DOID:0111059", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111059", "name": "BSSA2", "description": "" }, { "id": "MONDO:0007930", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007930", "name": "Bernard-Soulier syndrome, type A2, autosomal dominant", "description": "A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p." }, { "id": "MONDO:0007930", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007930", "name": "BSSA2", "description": "" }, { "id": "MONDO:0007930", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007930", "name": "Bernard-Soulier syndrome, type A2 (dominant)", "description": "" }, { "id": "MONDO:0007930", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007930", "name": "Bernard-Soulier syndrome, type A2, autosomal dominant", "description": "" }, { "id": "MONDO:0007930", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007930", "name": "Bernard-Soulier syndrome type A2", "description": "" }, { "id": "MIM:153670", "resource": "MIM", "url": "https://www.omim.org/entry/153670", "name": "Bernard-Soulier syndrome A2, autosomal dominant", "description": "Bernard-Soulier syndrome A2, autosomal dominant" } ], "evidence": [ { "id": "153670", "database": "MIM", "url": "https://www.omim.org/entry/153670" } ] }, { "disease_id": "DOID:2217", "recommended_name": { "id": "DOID:2217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2217", "name": "Bernard-Soulier syndrome", "description": "A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has_material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib." }, "synonyms": [ { "id": "DOID:2217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2217", "name": "Bernard - Soulier thrombopathy", "description": "" }, { "id": "DOID:2217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2217", "name": "Bernard Soulier syndrome", "description": "" }, { "id": "DOID:2217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2217", "name": "Giant platelet syndrome", "description": "" }, { "id": "DOID:2217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2217", "name": "Hemorrhagic dystrophic thrombocytopenia", "description": "" }, { "id": "DOID:2217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2217", "name": "Thrombopathy, Bernard-Soulier", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "Bernard-Soulier syndrome", "description": "Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination." }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "Bernard - Soulier thrombopathy", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "Bernard Soulier syndrome", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "Bernard-Soulier syndrome", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "Bernard-Soulier syndrome, type A1 (recessive)", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "Hemorrhagiparous thrombocytic dystrophy", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "giant platelet disorder, isolated", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "giant platelet syndrome", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "hemorrhagic dystrophic thrombocytopenia", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "thrombopathy, Bernard-Soulier", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "BSS", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "Bernard-Soulier syndrome, type A1", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "Bernard-Soulier syndrome, type B", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "Bernard-Soulier syndrome, type C", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "Platelet glycoprotein 1b, deficiency of", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "Platelet glycoprotein Ib deficiency", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "Von Willebrand Factor receptor deficiency", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "bleeding disorder, Platelet-type, 1", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "deficiency of platelet glycoprotein 1b", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "giant platelet disease", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "glycoprotein Ib, Platelet, deficiency of", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "macrothrombocytopenia, familial Bernard-Soulier type", "description": "" }, { "id": "MIM:231200", "resource": "MIM", "url": "https://www.omim.org/entry/231200", "name": "Bernard-Soulier syndrome", "description": "Bernard-Soulier syndrome" } ], "evidence": [ { "id": "231200", "database": "MIM", "url": "https://www.omim.org/entry/231200" } ] }, { "disease_id": "MONDO:0009789", "recommended_name": { "id": "MONDO:0009789", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009789", "name": "nonarteritic anterior ischemic optic neuropathy, susceptibility to", "description": "" }, "synonyms": [ { "id": "MONDO:0009789", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009789", "name": "nonarteritic anterior ischemic optic neuropathy, susceptibility to", "description": "" }, { "id": "MONDO:0009789", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009789", "name": "Naion, susceptibility to", "description": "" }, { "id": "MONDO:0009789", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009789", "name": "optic neuropathy, anterior ischemic, susceptibility to", "description": "" }, { "id": "MONDO:0009789", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009789", "name": "susceptibility to nonarteritic anterior ischaemic optic neuropathy", "description": "" }, { "id": "MONDO:0009789", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009789", "name": "susceptibility to nonarteritic anterior ischemic optic neuropathy", "description": "" }, { "id": "MIM:258660", "resource": "MIM", "url": "https://www.omim.org/entry/258660", "name": "Non-arteritic anterior ischemic optic neuropathy", "description": "Non-arteritic anterior ischemic optic neuropathy" } ], "evidence": [ { "id": "258660", "database": "MIM", "url": "https://www.omim.org/entry/258660" } ] } ], "snv": [ { "evidence": [ { "id": "rs1017486531", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1017486531" }, { "id": "rs1017486531", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1017486531#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 364, "end_pos": 364, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->NFI); o-glyco-site-loss (T->I).", "chr_id": "17", "chr_pos": "4933695", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T364", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1296692486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1296692486" }, { "id": "rs1296692486", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1296692486" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 177, "end_pos": 177, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->NLI).", "chr_id": "17", "chr_pos": "4933134", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T177", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P07359", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P07359" } ], "glycoeffect": [], "start_pos": 233, "end_pos": 233, "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": "17", "chr_pos": "4933302", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R233", "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": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "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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"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, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "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": "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 prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P07359", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07359" } ], "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" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P07359", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07359" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07359", "url": "https://www.uniprot.org/uniprot/P07359" } ], "common_name": "Human" } ], "gene": [ { "name": "GP1BA", "url": "https://www.uniprot.org/uniprot/P07359", "locus": { "chromosome": "17", "start_pos": 4935023, "end_pos": 4932277, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000185245", "url": "https://www.ensembl.org/id/ENSG00000185245" } ] } } ], "crossref": [ { "id": "ENSG00000185245", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185245", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P07359", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P07359", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "CHEMBL4630891", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL4630891", "database": "ChEMBL", 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Classification" ] }, { "id": "R-HSA-430116", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-430116", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-75892", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75892", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-76009", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-76009", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8936459", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8936459", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9673221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9673221", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9845620", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9845620", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9846298", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9846298", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000164", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000164", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P07359", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "P07359", "url": "https://www.uniprot.org/uniprot/P07359", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07359-1", "url": "https://www.uniprot.org/uniprot/P07359-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPLLLLLLLLPSPLHPHPICEVSKVASHLEVNCDKRNLTALPPDLPKDTTILHLSENLLYTFSLATLMPYTRLTQLNLDRCELTKLQVDGTLPVLGTLDLSHNQLQSLPLLGQTLPALTVLDVSFNRLTSLPLGALRGLGELQELYLKGNELKTLPPGLLTPTPKLEKLSLANNNLTELPAGLLNGLENLDTLLLQENSLYTIPKGFFGSHLLPFAFLHGNPWLCNCEILYFRRWLQDNAENVYVWKQGVDVKAMTSNVASVQCDNSDKFPVYKYPGKGCPTLGDEGDTDLYDYYPEEDTEGDKVRATRTVVKFPTKAHTTPWGLFYSWSTASLDSQMPSSLHPTQESTKEQTTFPPRWTPNFTLHMESITFSKTPKSTTEPTPSPTTSEPVPEPAPNMTTLEPTPSPTTPEPTSEPAPSPTTPEPTSEPAPSPTTPEPTSEPAPSPTTPEPTPIPTIATSPTILVSATSLITPKSTFLTTTKPVSLLESTKKTIPELDQPPKLRGVLQGHLESSRNDPFLHPDFCCLLPLGFYVLGLFWLLFASVVLILLLSWVGHVKPQALDSGQGAALTTATQTTHLELQRGRQVTVPRAWLLFLRGSLPTFRSSLFLWVRPNGRVGPLVAGRRPSALSQGRGQDLLSTVSIRYSGHSL", "length": 652, "header": "sp|P07359-1|GP1BA_HUMAN Isoform 1 of Platelet glycoprotein Ib alpha chain OS=Homo sapiens OX=9606 GN=GP1BA PE=1 SV=2 CANONICAL=P07359-1" }, "isoforms": [ { "isoform_ac": "P07359-1", "url": "", "sequence": { "sequence": "MPLLLLLLLLPSPLHPHPICEVSKVASHLEVNCDKRNLTALPPDLPKDTTILHLSENLLYTFSLATLMPYTRLTQLNLDRCELTKLQVDGTLPVLGTLDLSHNQLQSLPLLGQTLPALTVLDVSFNRLTSLPLGALRGLGELQELYLKGNELKTLPPGLLTPTPKLEKLSLANNNLTELPAGLLNGLENLDTLLLQENSLYTIPKGFFGSHLLPFAFLHGNPWLCNCEILYFRRWLQDNAENVYVWKQGVDVKAMTSNVASVQCDNSDKFPVYKYPGKGCPTLGDEGDTDLYDYYPEEDTEGDKVRATRTVVKFPTKAHTTPWGLFYSWSTASLDSQMPSSLHPTQESTKEQTTFPPRWTPNFTLHMESITFSKTPKSTTEPTPSPTTSEPVPEPAPNMTTLEPTPSPTTPEPTSEPAPSPTTPEPTSEPAPSPTTPEPTSEPAPSPTTPEPTPIPTIATSPTILVSATSLITPKSTFLTTTKPVSLLESTKKTIPELDQPPKLRGVLQGHLESSRNDPFLHPDFCCLLPLGFYVLGLFWLLFASVVLILLLSWVGHVKPQALDSGQGAALTTATQTTHLELQRGRQVTVPRAWLLFLRGSLPTFRSSLFLWVRPNGRVGPLVAGRRPSALSQGRGQDLLSTVSIRYSGHSL", "length": 652, "header": "sp|P07359-1|GP1BA_HUMAN Isoform 1 of Platelet glycoprotein Ib alpha chain OS=Homo sapiens OX=9606 GN=GP1BA PE=1 SV=2 CANONICAL=P07359-1" }, "locus": { "chromosome": "17", "start_pos": 4934560, "end_pos": 4932605, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000329125.6", "url": "https://www.ensembl.org/id/ENST00000329125.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000329380.5", "url": "https://www.ensembl.org/id/ENSP00000329380.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G16150CJ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: N-37, N-175, T-308", "start_pos": 175, "start_aa": "Asn", "end_pos": 175, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn175", "evidence": [ { "id": "P07359", "database": "UniCarbKB", "url": "" }, { "id": "3571205", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/3571205" } ] }, { "glytoucan_ac": "G16774YZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: N-37, N-175, T-308", "start_pos": 175, "start_aa": "Asn", "end_pos": 175, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn175", "evidence": [ { "id": "P07359", "database": "UniCarbKB", "url": "" }, { "id": "3571205", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/3571205" } ] }, { "glytoucan_ac": "G24432GW", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: N-37, N-175, T-308", "start_pos": 175, "start_aa": "Asn", "end_pos": 175, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn175", "evidence": [ { "id": "P07359", "database": "UniCarbKB", "url": "" }, { "id": "3571205", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/3571205" } ] }, { "glytoucan_ac": "G38022PE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: N-37, N-175, T-308", "start_pos": 175, "start_aa": "Asn", "end_pos": 175, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn175", "evidence": [ { "id": "P07359", "database": "UniCarbKB", "url": "" }, { "id": "3571205", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/3571205" } ] }, { "glytoucan_ac": "G42686NQ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: N-37, N-175, T-308", "start_pos": 175, "start_aa": "Asn", "end_pos": 175, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn175", "evidence": [ { "id": "P07359", "database": "UniCarbKB", "url": "" }, { "id": "3571205", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/3571205" } ] }, { "glytoucan_ac": "G86750HK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: N-37, N-175, T-308", "start_pos": 175, "start_aa": "Asn", "end_pos": 175, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn175", "evidence": [ { "id": "P07359", "database": "UniCarbKB", "url": "" }, { "id": "3571205", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/3571205" } ] }, { "glytoucan_ac": "G96921ZU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: N-37, N-175, T-308", "start_pos": 175, "start_aa": "Asn", "end_pos": 175, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn175", "evidence": [ { "id": "P07359", "database": "UniCarbKB", "url": "" }, { "id": "3571205", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/3571205" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 175, "start_aa": "Asn", "end_pos": 175, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn175", "evidence": [ { "id": "P07359", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07359#ptm_processing" }, { "id": "3497398", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/3497398" }, { "id": "1OOK", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/1OOK" }, { "id": "1P9A", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/1P9A" }, { "id": "1QYY", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/1QYY" }, { "id": "3PMH", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3PMH" } ] }, { "glytoucan_ac": "G01614ZM", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: N-37, N-175, T-308", "start_pos": 308, "start_aa": "Thr", "end_pos": 308, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr308", "evidence": [ { "id": "P07359", "database": "UniCarbKB", "url": "" }, { "id": "3571205", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/3571205" } ] }, { "glytoucan_ac": "G11457RF", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: N-37, N-175, T-308", "start_pos": 308, "start_aa": "Thr", "end_pos": 308, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr308", "evidence": [ { "id": "P07359", "database": "UniCarbKB", "url": "" }, { "id": "3571205", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/3571205" } ] }, { "glytoucan_ac": "G12396GB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: N-37, N-175, T-308", "start_pos": 308, "start_aa": "Thr", "end_pos": 308, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr308", "evidence": [ { "id": "P07359", "database": "UniCarbKB", "url": "" }, { "id": "3571205", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/3571205" } ] }, { "glytoucan_ac": "G46748BU", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: N-37, N-175, T-308", "start_pos": 308, "start_aa": "Thr", "end_pos": 308, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr308", "evidence": [ { "id": "P07359", "database": "UniCarbKB", "url": "" }, { "id": "3571205", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/3571205" } ] }, { "glytoucan_ac": "G60890ZT", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: N-37, N-175, T-308", "start_pos": 308, "start_aa": "Thr", "end_pos": 308, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr308", "evidence": [ { "id": "P07359", "database": "UniCarbKB", "url": "" }, { "id": "3571205", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/3571205" } ] }, { "glytoucan_ac": "G65562ZE", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: N-37, N-175, T-308", "start_pos": 308, "start_aa": "Thr", "end_pos": 308, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr308", "evidence": [ { "id": "P07359", "database": "UniCarbKB", "url": "" }, { "id": "3571205", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/3571205" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine O-GalNAcylation", "start_pos": 308, "start_aa": "Thr", "end_pos": 308, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr308", "evidence": [ { "id": "P07359", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07359#ptm_processing" }, { "id": "3497398", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/3497398" }, { "id": "36740532", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36740532" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine O-GalNAcylation", "start_pos": 316, "start_aa": "Thr", "end_pos": 316, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr316", "evidence": [ { "id": "P07359", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07359#ptm_processing" }, { "id": "36740532", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36740532" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine O-GalNAcylation", "start_pos": 320, "start_aa": "Thr", "end_pos": 320, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr320", "evidence": [ { "id": "P07359", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07359#ptm_processing" }, { "id": "36740532", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36740532" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine O-GalNAcylation", "start_pos": 321, "start_aa": "Thr", "end_pos": 321, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr321", "evidence": [ { "id": "P07359", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07359#ptm_processing" }, { "id": "36740532", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36740532" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "S", "relation": "attached", "comment": "O-linked (GalNAc...) serine O-GalNAcylation", "start_pos": 328, "start_aa": "Ser", "end_pos": 328, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser328", "evidence": [ { "id": "P07359", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07359#ptm_processing" }, { "id": "36740532", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36740532" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine O-GalNAcylation", "start_pos": 331, "start_aa": "Thr", "end_pos": 331, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr331", "evidence": [ { "id": "P07359", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07359#ptm_processing" }, { "id": "36740532", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36740532" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "S", "relation": "attached", "comment": "O-linked (GalNAc...) serine O-GalNAcylation", "start_pos": 340, "start_aa": "Ser", "end_pos": 340, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser340", "evidence": [ { "id": "P07359", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07359#ptm_processing" }, { "id": "36740532", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36740532" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "S", "relation": "attached", "comment": "O-linked (GalNAc...) serine O-GalNAcylation", "start_pos": 341, "start_aa": "Ser", "end_pos": 341, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser341", "evidence": [ { "id": "P07359", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07359#ptm_processing" }, { "id": "36740532", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36740532" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine O-GalNAcylation", "start_pos": 345, "start_aa": "Thr", "end_pos": 345, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr345", "evidence": [ { "id": "P07359", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07359#ptm_processing" }, { "id": "36740532", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36740532" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine O-GalNAcylation", "start_pos": 353, "start_aa": "Thr", "end_pos": 353, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr353", "evidence": [ { "id": "P07359", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07359#ptm_processing" }, { "id": "36740532", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36740532" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine O-GalNAcylation", "start_pos": 354, "start_aa": "Thr", "end_pos": 354, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr354", "evidence": [ { "id": "P07359", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07359#ptm_processing" }, { "id": "36740532", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36740532" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine O-GalNAcylation", "start_pos": 360, "start_aa": "Thr", "end_pos": 360, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr360", "evidence": [ { "id": "P07359", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07359#ptm_processing" }, { "id": "36740532", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36740532" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 362, "start_aa": "Asn", "end_pos": 362, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn362", "evidence": [ { "id": "176", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/176" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G52527GH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 362, "start_aa": "Asn", "end_pos": 362, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn362", "evidence": [ { "id": "176", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/176" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 364, "start_aa": "Thr", "end_pos": 364, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr364", "evidence": [ { "id": "P07359", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine O-GalNAcylation", "start_pos": 364, "start_aa": "Thr", "end_pos": 364, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr364", "evidence": [ { "id": "P07359", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07359#ptm_processing" }, { "id": "36740532", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36740532" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "S", "relation": "attached", "comment": "O-linked (GalNAc...) serine O-GalNAcylation", "start_pos": 369, "start_aa": "Ser", "end_pos": 369, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser369", "evidence": [ { "id": "P07359", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07359#ptm_processing" }, { "id": "36740532", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36740532" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine O-GalNAcylation", "start_pos": 371, "start_aa": "Thr", "end_pos": 371, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr371", "evidence": [ { "id": "P07359", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07359#ptm_processing" }, { "id": "36740532", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36740532" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "S", "relation": "attached", "comment": "O-linked (GalNAc...) serine O-GalNAcylation", "start_pos": 373, "start_aa": "Ser", "end_pos": 373, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser373", "evidence": [ { "id": "P07359", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07359#ptm_processing" }, { "id": "36740532", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36740532" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine O-GalNAcylation", "start_pos": 379, "start_aa": "Thr", "end_pos": 379, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr379", "evidence": [ { "id": "P07359", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07359#ptm_processing" }, { "id": "36740532", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36740532" } ] }, { "glytoucan_ac": "G16150CJ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: N-37, N-175, T-308", "start_pos": 37, "start_aa": "Asn", "end_pos": 37, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn37", "evidence": [ { "id": "P07359", "database": "UniCarbKB", "url": "" }, { "id": "3571205", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/3571205" } ] }, { "glytoucan_ac": "G16774YZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: N-37, N-175, T-308", "start_pos": 37, "start_aa": "Asn", "end_pos": 37, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn37", "evidence": [ { "id": "P07359", "database": "UniCarbKB", "url": "" }, { "id": "3571205", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/3571205" } ] }, { "glytoucan_ac": "G24432GW", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: N-37, N-175, T-308", "start_pos": 37, "start_aa": "Asn", "end_pos": 37, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn37", "evidence": [ { "id": "P07359", "database": "UniCarbKB", "url": "" }, { "id": "3571205", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/3571205" } ] }, { "glytoucan_ac": "G38022PE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: N-37, N-175, T-308", "start_pos": 37, "start_aa": "Asn", "end_pos": 37, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn37", "evidence": [ { "id": "P07359", "database": "UniCarbKB", "url": "" }, { "id": "3571205", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/3571205" } ] }, { "glytoucan_ac": "G42686NQ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: N-37, N-175, T-308", "start_pos": 37, "start_aa": "Asn", "end_pos": 37, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn37", "evidence": [ { "id": "P07359", "database": "UniCarbKB", "url": "" }, { "id": "3571205", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/3571205" } ] }, { "glytoucan_ac": "G56784JY", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 37, "start_aa": "Asn", "end_pos": 37, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn37", "evidence": [ { "id": "176", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/176" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G86750HK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: N-37, N-175, T-308", "start_pos": 37, "start_aa": "Asn", "end_pos": 37, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn37", "evidence": [ { "id": "P07359", "database": "UniCarbKB", "url": "" }, { "id": "3571205", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/3571205" } ] }, { "glytoucan_ac": "G96921ZU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. 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Purification, properties, and mechanism of activation by activated factor XII.", "journal": "The Journal of biological chemistry", "date": "1977", "authors": "Bouma BN, Griffin JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "893417", "url": "https://glygen.org/publication/PubMed/893417" } ] }, { "title": "StyI polymorphism at nucleotide 1610 in the human platelet glycoprotein Ib alpha gene.", "journal": "Jpn. J. Hum. Genet.", "date": "1996", "authors": "Suzuki K, Hayashi T, Akiba J, Yahagi A, Tajima K, Satoh S, Sasaki H", "evidence": [ { "database": "UniProtKB", "id": "P07359", "url": "https://www.uniprot.org/uniprot/P07359" } ], "reference": [ { "type": "PubMed", "id": "9088113", "url": "https://glygen.org/publication/PubMed/9088113" } ] }, { "title": "Modification of the N-terminus of human factor IX by defective propeptide cleavage or acetylation results in a destabilized calcium-induced conformation: effects on phospholipid binding and activation by factor XIa.", "journal": "The Biochemical journal", "date": "1997", "authors": "Wojcik EG, Van Den Berg M, Poort SR, Bertina RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9673221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9673221" } ], "reference": [ { "type": "PubMed", "id": "9169594", "url": "https://glygen.org/publication/PubMed/9169594" } ] }, { "title": "High molecular weight kininogen peptides inhibit the formation of kallikrein on endothelial cell surfaces and subsequent urokinase-dependent plasmin formation.", "journal": "Blood", "date": "1997", "authors": "Lin Y, Harris RB, Yan W, McCrae KR, Zhang H, Colman RW", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "9226169", "url": "https://glygen.org/publication/PubMed/9226169" } ] }, { "title": "Glycoprotein VI is the collagen receptor in platelets which underlies tyrosine phosphorylation of the Fc receptor gamma-chain.", "journal": "FEBS letters", "date": "1997", "authors": "Gibbins JM, Okuma M, Farndale R, Barnes M, Watson SP", "evidence": [ { "database": "Reactome", "id": "R-HSA-75892", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75892" } ], "reference": [ { "type": "PubMed", "id": "9280292", "url": "https://glygen.org/publication/PubMed/9280292" } ] }, { "title": "Crystal structure of the A3 domain of human von Willebrand factor: implications for collagen binding.", "journal": "Structure (London, England : 1993)", "date": "1997-09-15", "authors": "Huizinga E G, Martijn van der Plas R, Kroon J, Sixma J J, Gros P", "evidence": [ { "database": "Reactome", "id": "R-HSA-75892", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75892" } ], "reference": [ { "type": "PubMed", "id": "9331419", "url": "https://glygen.org/publication/PubMed/9331419" } ] }, { "title": "Binding of purified 14-3-3 zeta signaling protein to discrete amino acid sequences within the cytoplasmic domain of the platelet membrane glycoprotein Ib-IX-V complex.", "journal": "Biochemistry", "date": "1998", "authors": "Andrews RK, Harris SJ, McNally T, Berndt MC", "evidence": [ { "database": "Reactome", "id": "R-HSA-430116", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-430116" } ], "reference": [ { "type": "PubMed", "id": "9425086", "url": "https://glygen.org/publication/PubMed/9425086" } ] }, { "title": "High molecular weight kininogen regulates prekallikrein assembly and activation on endothelial cells: a novel mechanism for contact activation.", "journal": "Blood", "date": "1998", "authors": "Motta G, Rojkjaer R, Hasan AA, Cines DB, Schmaier AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "9427705", "url": "https://glygen.org/publication/PubMed/9427705" } ] }, { "title": "Effects of melagatran, a new low-molecular-weight thrombin inhibitor, on thrombin and fibrinolytic enzymes.", "journal": "Thrombosis and haemostasis", "date": "1998", "authors": "Gustafsson D, Antonsson T, Bylund R, Eriksson U, Gyzander E, Nilsson I, Elg M, Mattsson C, Deinum J, Pehrsson S, Karlsson O, Nilsson A, Sorensen H", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "9459334", "url": "https://glygen.org/publication/PubMed/9459334" } ] }, { "title": "Novastan (brand of argatroban): a small-molecule, direct thrombin inhibitor.", "journal": "Seminars in thrombosis and hemostasis", "date": "1997", "authors": "Hursting MJ, Alford KL, Becker JC, Brooks RL, Joffrion JL, Knappenberger GD, Kogan PW, Kogan TP, McKinney AA, Schwarz RP Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "9469622", "url": "https://glygen.org/publication/PubMed/9469622" } ] }, { "title": "Biosynthesis, assembly and secretion of coagulation factor VIII.", "journal": "Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis", "date": "1997", "authors": "Kaufman RJ, Pipe SW, Tagliavacca L, Swaroop M, Moussalli M", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "9607108", "url": "https://glygen.org/publication/PubMed/9607108" } ] }, { "title": "Naturally occurring mutations in glycoprotein Ibalpha that result in defective ligand binding and synthesis of a truncated protein.", "journal": "Blood", "date": "1998", "authors": "Kenny D, Jonsson OG, Morateck PA, Montgomery RR", "evidence": [ { "database": "UniProtKB", "id": "P07359", "url": "https://www.uniprot.org/uniprot/P07359" } ], "reference": [ { "type": "PubMed", "id": "9639514", "url": "https://glygen.org/publication/PubMed/9639514" } ] }, { "title": "Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha.", "journal": "J. Biol. Chem.", "date": "1998", "authors": "Takafuta T, Wu G, Murphy GF, Shapiro SS", "evidence": [ { "database": "UniProtKB", "id": "P07359", "url": "https://www.uniprot.org/uniprot/P07359" } ], "reference": [ { "type": "PubMed", "id": "9651345", "url": "https://glygen.org/publication/PubMed/9651345" } ] }, { "title": "Activation of factor VIII by thrombin increases its affinity for binding to synthetic phospholipid membranes and activated platelets.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Saenko EL, Scandella D, Yakhyaev AV, Greco NJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "9774404", "url": "https://glygen.org/publication/PubMed/9774404" } ] }, { "title": "The life cycle of coagulation factor VIII in view of its structure and function.", "journal": "Blood", "date": "1998", "authors": "Lenting PJ, van Mourik JA, Mertens K", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "9834200", "url": "https://glygen.org/publication/PubMed/9834200" } ] }, { "title": "Thrombin activates factor XI on activated platelets in the absence of factor XII.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "1999", "authors": "Oliver JA, Monroe DM, Roberts HR, Hoffman M", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "9888880", "url": "https://glygen.org/publication/PubMed/9888880" } ] } ], "pathway": [ { "id": "hsa:2811", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2811", "resource": "KEGG Pathway" }, { "id": "R-HSA-140837", "name": "Intrinsic Pathway of Fibrin Clot Formation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837", "resource": "Reactome", "description": "Intrinsic Pathway of Fibrin Clot Formation" }, { "id": "R-HSA-430116", "name": "GP1b-IX-V activation signalling", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-430116", "resource": "Reactome", "description": "GP1b-IX-V activation signalling" }, { "id": "R-HSA-75892", "name": "Platelet Adhesion to exposed collagen", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75892", "resource": "Reactome", "description": "Platelet Adhesion to exposed collagen" }, { "id": "R-HSA-76009", "name": "Platelet Aggregation (Plug Formation)", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-76009", "resource": "Reactome", "description": "Platelet Aggregation (Plug Formation)" }, { "id": "R-HSA-8936459", "name": "RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8936459", "resource": "Reactome", "description": "RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function" }, { "id": "R-HSA-9673221", "name": "Defective F9 activation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9673221", "resource": "Reactome", "description": "Defective F9 activation" }, { "id": "R-HSA-9845620", "name": "Enhanced binding of GP1BA variant to VWF multimer:collagen", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9845620", "resource": "Reactome", "description": "Enhanced binding of GP1BA variant to VWF multimer:collagen" }, { "id": "R-HSA-9846298", "name": "Defective binding of VWF variant to GPIb:IX:V", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9846298", "resource": "Reactome", "description": "Defective binding of VWF variant to GPIb:IX:V" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZQU7-1", "protein_name": "Glycoprotein Ib platelet subunit alpha", "gene_name": "Gp1ba", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { 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"url": "https://www.uniprot.org/uniprot/P07359" } ], "pmid": "" }, { "name": "platelet activation", "id": "GO:0030168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030168", "evidence": [ { "database": "UniProtKB", "id": "P07359", "url": "https://www.uniprot.org/uniprot/P07359" } ], "pmid": "" }, { "name": "fibrinolysis", "id": "GO:0042730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042730", "evidence": [ { "database": "UniProtKB", "id": "P07359", "url": "https://www.uniprot.org/uniprot/P07359" } ], "pmid": "" }, { "name": "release of sequestered calcium ion into cytosol", "id": "GO:0051209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051209", "evidence": [ { "database": "UniProtKB", "id": "P07359", "url": "https://www.uniprot.org/uniprot/P07359" } ], "pmid": "" }, { "name": "megakaryocyte development", "id": "GO:0035855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035855", "evidence": [ { "database": "UniProtKB", "id": "P07359", "url": "https://www.uniprot.org/uniprot/P07359" } ], "pmid": "" }, { "name": "regulation of blood coagulation", "id": "GO:0030193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030193", "evidence": [ { "database": "UniProtKB", "id": "P07359", "url": "https://www.uniprot.org/uniprot/P07359" } ], "pmid": "" }, { "name": "positive regulation of platelet activation", "id": "GO:0010572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010572", "evidence": [ { "database": "UniProtKB", "id": "P07359", "url": "https://www.uniprot.org/uniprot/P07359" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 8, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P07359", "url": "https://www.uniprot.org/uniprot/P07359" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P07359", "url": "https://www.uniprot.org/uniprot/P07359" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P07359", "url": "https://www.uniprot.org/uniprot/P07359" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P07359", "url": "https://www.uniprot.org/uniprot/P07359" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P07359", "url": "https://www.uniprot.org/uniprot/P07359" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P07359", "url": "https://www.uniprot.org/uniprot/P07359" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P07359", "url": "https://www.uniprot.org/uniprot/P07359" } ], "pmid": "" }, { "name": "glycoprotein Ib-IX-V complex", "id": "GO:1990779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990779", "evidence": [ { "database": "UniProtKB", "id": "P07359", "url": "https://www.uniprot.org/uniprot/P07359" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "platelet glycoprotein Ib alpha chain N-glycosylated 1 (human)", "definition": "A platelet glycoprotein Ib alpha chain (human) that has been N-glycosylated at the residue equivalent to Asn-175 of the amino acid sequence represented by UniProtKB:P07359-1, in which the glycan structure is represented by GlyTouCan:G16150CJ. Example: UniProtKB:P07359-1, Asn-175, MOD:00160~GNO:G16150CJ. [PRO:DNx, PMID:3571205]", "evidence": [ { "id": "PR:000053732", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053732" } ] }, { "name": "platelet glycoprotein Ib alpha chain N-glycosylated 2 (human)", "definition": "A platelet glycoprotein Ib alpha chain (human) that has been N-glycosylated at the residue equivalent to Asn-175 of the amino acid sequence represented by UniProtKB:P07359-1, in which the glycan structure is represented by GlyTouCan:G16774YZ. Example: UniProtKB:P07359-1, Asn-175, MOD:00160~GNO:G16774YZ. [PRO:DNx, PMID:3571205]", "evidence": [ { "id": "PR:000053733", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053733" } ] }, { "name": "platelet glycoprotein Ib alpha chain N-glycosylated 3 (human)", "definition": "A platelet glycoprotein Ib alpha chain (human) that has been N-glycosylated at the residue equivalent to Asn-175 of the amino acid sequence represented by UniProtKB:P07359-1, in which the glycan structure is represented by GlyTouCan:G24432GW. Example: UniProtKB:P07359-1, Asn-175, MOD:00160~GNO:G24432GW. [PRO:DNx, PMID:3571205]", "evidence": [ { "id": "PR:000053734", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053734" } ] }, { "name": "platelet glycoprotein Ib alpha chain N-glycosylated 4 (human)", "definition": "A platelet glycoprotein Ib alpha chain (human) that has been N-glycosylated at the residue equivalent to Asn-175 of the amino acid sequence represented by UniProtKB:P07359-1, in which the glycan structure is represented by GlyTouCan:G38022PE. Example: UniProtKB:P07359-1, Asn-175, MOD:00160~GNO:G38022PE. [PRO:DNx, PMID:3571205]", "evidence": [ { "id": "PR:000053735", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053735" } ] }, { "name": "platelet glycoprotein Ib alpha chain N-glycosylated 5 (human)", "definition": "A platelet glycoprotein Ib alpha chain (human) that has been N-glycosylated at the residue equivalent to Asn-175 of the amino acid sequence represented by UniProtKB:P07359-1, in which the glycan structure is represented by GlyTouCan:G42686NQ. Example: UniProtKB:P07359-1, Asn-175, MOD:00160~GNO:G42686NQ. [PRO:DNx, PMID:3571205]", "evidence": [ { "id": "PR:000053736", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053736" } ] }, { "name": "platelet glycoprotein Ib alpha chain N-glycosylated 6 (human)", "definition": "A platelet glycoprotein Ib alpha chain (human) that has been N-glycosylated at the residue equivalent to Asn-175 of the amino acid sequence represented by UniProtKB:P07359-1, in which the glycan structure is represented by GlyTouCan:G86750HK. Example: UniProtKB:P07359-1, Asn-175, MOD:00160~GNO:G86750HK. [PRO:DNx, PMID:3571205]", "evidence": [ { "id": "PR:000053737", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053737" } ] }, { "name": "platelet glycoprotein Ib alpha chain N-glycosylated 7 (human)", "definition": "A platelet glycoprotein Ib alpha chain (human) that has been N-glycosylated at the residue equivalent to Asn-175 of the amino acid sequence represented by UniProtKB:P07359-1, in which the glycan structure is represented by GlyTouCan:G96921ZU. Example: UniProtKB:P07359-1, Asn-175, MOD:00160~GNO:G96921ZU. [PRO:DNx, PMID:3571205]", "evidence": [ { "id": "PR:000053738", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053738" } ] }, { "name": "platelet glycoprotein Ib alpha chain N-glycosylated 8 (human)", "definition": "A platelet glycoprotein Ib alpha chain (human) that has been N-glycosylated at the residue equivalent to Asn-37 of the amino acid sequence represented by UniProtKB:P07359-1, in which the glycan structure is represented by GlyTouCan:G16150CJ. Example: UniProtKB:P07359-1, Asn-37, MOD:00160~GNO:G16150CJ. [PRO:DNx, PMID:3571205]", "evidence": [ { "id": "PR:000053739", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053739" } ] }, { "name": "platelet glycoprotein Ib alpha chain N-glycosylated 9 (human)", "definition": "A platelet glycoprotein Ib alpha chain (human) that has been N-glycosylated at the residue equivalent to Asn-37 of the amino acid sequence represented by UniProtKB:P07359-1, in which the glycan structure is represented by GlyTouCan:G16774YZ. Example: UniProtKB:P07359-1, Asn-37, MOD:00160~GNO:G16774YZ. [PRO:DNx, PMID:3571205]", "evidence": [ { "id": "PR:000053740", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053740" } ] }, { "name": "platelet glycoprotein Ib alpha chain N-glycosylated 10 (human)", "definition": "A platelet glycoprotein Ib alpha chain (human) that has been N-glycosylated at the residue equivalent to Asn-37 of the amino acid sequence represented by UniProtKB:P07359-1, in which the glycan structure is represented by GlyTouCan:G24432GW. Example: UniProtKB:P07359-1, Asn-37, MOD:00160~GNO:G24432GW. [PRO:DNx, PMID:3571205]", "evidence": [ { "id": "PR:000053741", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053741" } ] }, { "name": "platelet glycoprotein Ib alpha chain N-glycosylated 11 (human)", "definition": "A platelet glycoprotein Ib alpha chain (human) that has been N-glycosylated at the residue equivalent to Asn-37 of the amino acid sequence represented by UniProtKB:P07359-1, in which the glycan structure is represented by GlyTouCan:G38022PE. Example: UniProtKB:P07359-1, Asn-37, MOD:00160~GNO:G38022PE. [PRO:DNx, PMID:3571205]", "evidence": [ { "id": "PR:000053742", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053742" } ] }, { "name": "platelet glycoprotein Ib alpha chain N-glycosylated 12 (human)", "definition": "A platelet glycoprotein Ib alpha chain (human) that has been N-glycosylated at the residue equivalent to Asn-37 of the amino acid sequence represented by UniProtKB:P07359-1, in which the glycan structure is represented by GlyTouCan:G42686NQ. Example: UniProtKB:P07359-1, Asn-37, MOD:00160~GNO:G42686NQ. [PRO:DNx, PMID:3571205]", "evidence": [ { "id": "PR:000053743", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053743" } ] }, { "name": "platelet glycoprotein Ib alpha chain N-glycosylated 13 (human)", "definition": "A platelet glycoprotein Ib alpha chain (human) that has been N-glycosylated at the residue equivalent to Asn-37 of the amino acid sequence represented by UniProtKB:P07359-1, in which the glycan structure is represented by GlyTouCan:G86750HK. Example: UniProtKB:P07359-1, Asn-37, MOD:00160~GNO:G86750HK. [PRO:DNx, PMID:3571205]", "evidence": [ { "id": "PR:000053744", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053744" } ] }, { "name": "platelet glycoprotein Ib alpha chain N-glycosylated 14 (human)", "definition": "A platelet glycoprotein Ib alpha chain (human) that has been N-glycosylated at the residue equivalent to Asn-37 of the amino acid sequence represented by UniProtKB:P07359-1, in which the glycan structure is represented by GlyTouCan:G96921ZU. Example: UniProtKB:P07359-1, Asn-37, MOD:00160~GNO:G96921ZU. [PRO:DNx, PMID:3571205]", "evidence": [ { "id": "PR:000053745", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053745" } ] }, { "name": "platelet glycoprotein Ib alpha chain O-glycosylated 1 (human)", "definition": "A platelet glycoprotein Ib alpha chain (human) that has been O-glycosylated at the residue equivalent to Thr-308 of the amino acid sequence represented by UniProtKB:P07359-1, in which the glycan structure is represented by GlyTouCan:G01614ZM. Example: UniProtKB:P07359-1, Thr-308, MOD:00005~GNO:G01614ZM. [PRO:DNx, PMID:3571205]", "evidence": [ { "id": "PR:000053746", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053746" } ] }, { "name": "platelet glycoprotein Ib alpha chain O-glycosylated 2 (human)", "definition": "A platelet glycoprotein Ib alpha chain (human) that has been O-glycosylated at the residue equivalent to Thr-308 of the amino acid sequence represented by UniProtKB:P07359-1, in which the glycan structure is represented by GlyTouCan:G11457RF. Example: UniProtKB:P07359-1, Thr-308, MOD:00005~GNO:G11457RF. [PRO:DNx, PMID:3571205]", "evidence": [ { "id": "PR:000053747", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053747" } ] }, { "name": "platelet glycoprotein Ib alpha chain O-glycosylated 3 (human)", "definition": "A platelet glycoprotein Ib alpha chain (human) that has been O-glycosylated at the residue equivalent to Thr-308 of the amino acid sequence represented by UniProtKB:P07359-1, in which the glycan structure is represented by GlyTouCan:G12396GB. Example: UniProtKB:P07359-1, Thr-308, MOD:00005~GNO:G12396GB. [PRO:DNx, PMID:3571205]", "evidence": [ { "id": "PR:000053748", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053748" } ] }, { "name": "platelet glycoprotein Ib alpha chain O-glycosylated 4 (human)", "definition": "A platelet glycoprotein Ib alpha chain (human) that has been O-glycosylated at the residue equivalent to Thr-308 of the amino acid sequence represented by UniProtKB:P07359-1, in which the glycan structure is represented by GlyTouCan:G46748BU. Example: UniProtKB:P07359-1, Thr-308, MOD:00005~GNO:G46748BU. [PRO:DNx, PMID:3571205]", "evidence": [ { "id": "PR:000053749", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053749" } ] }, { "name": "platelet glycoprotein Ib alpha chain O-glycosylated 5 (human)", "definition": "A platelet glycoprotein Ib alpha chain (human) that has been O-glycosylated at the residue equivalent to Thr-308 of the amino acid sequence represented by UniProtKB:P07359-1, in which the glycan structure is represented by GlyTouCan:G60890ZT. Example: UniProtKB:P07359-1, Thr-308, MOD:00005~GNO:G60890ZT. [PRO:DNx, PMID:3571205]", "evidence": [ { "id": "PR:000053750", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053750" } ] }, { "name": "platelet glycoprotein Ib alpha chain O-glycosylated 6 (human)", "definition": "A platelet glycoprotein Ib alpha chain (human) that has been O-glycosylated at the residue equivalent to Thr-308 of the amino acid sequence represented by UniProtKB:P07359-1, in which the glycan structure is represented by GlyTouCan:G65562ZE. Example: UniProtKB:P07359-1, Thr-308, MOD:00005~GNO:G65562ZE. [PRO:DNx, PMID:3571205]", "evidence": [ { "id": "PR:000053751", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053751" } ] }, { "name": "platelet glycoprotein Ib alpha chain O-glycosylated 7 (human)", "definition": "A platelet glycoprotein Ib alpha chain (human) that has been O-glycosylated at the residue equivalent to Thr-364 of the amino acid sequence represented by UniProtKB:P07359-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P07359-1, Thr-364, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053752", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053752" } ] }, { "name": "platelet glycoprotein Ib alpha chain O-glycosylated 8 (human)", "definition": "A platelet glycoprotein Ib alpha chain (human) that has been O-glycosylated at the residue equivalent to Thr-494 of the amino acid sequence represented by UniProtKB:P07359-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P07359-1, Thr-494, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053753", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053753" } ] } ], "site_annotation": [ { "start_pos": 175, "end_pos": 177, "annotation": "n_glycosylation_sequon" }, { "start_pos": 362, "end_pos": 364, "annotation": "n_glycosylation_sequon" }, { "start_pos": 37, "end_pos": 39, "annotation": "n_glycosylation_sequon" }, { "start_pos": 398, "end_pos": 400, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Glycocalicin is the product of a proteolytic cleavage/shedding, catalyzed by ADAM17, which releases most of the extracellular domain. Binding sites for vWF and thrombin are in this part of the protein.", "evidence": [ { "database": "UniProtKB", "id": "P07359", "url": "https://www.uniprot.org/uniprot/P07359" }, { "database": "PubMed", "id": "17445093", "url": "https://glygen.org/publication/PubMed/17445093" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 37, 175, 362 ], "o_linked_sites": [ 308, 316, 320, 321, 328, 331, 340, 341, 345, 353, 354, 360, 364, 369, 371, 373, 379, 380, 383, 385, 387, 388, 389, 400, 401, 405, 453, 457, 460, 461, 463, 467, 469, 473, 477, 480, 481, 482, 486, 490, 491, 494 ], "snv_sites": [ 39, 89, 177, 233, 260, 265, 316, 320, 321, 328, 331, 340, 341, 354, 364, 369, 371, 383, 385, 389, 401, 453, 457, 460, 461, 473, 477, 480, 481, 486, 494, 519, 618 ], "glycation_sites": [], "phosphorylation_sites": [ 292, 294, 295, 629, 632, 651 ], "sequon_annotation_sites": [ { "start_pos": 175, "end_pos": 177 }, { "start_pos": 362, "end_pos": 364 }, { "start_pos": 37, "end_pos": 39 }, { "start_pos": 398, "end_pos": 400 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 89 }, { "field": "total_sites", "count": 46 }, { "field": "n_linked_glycans", "count": 14 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "field": "o_linked_glycans", "count": 10 }, { "field": "o_linked_glycan_sites", "count": 46 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 44 }, { "field": "total_sites", "count": 44 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 42 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 45 }, { "field": "total_sites", "count": 7 }, { "field": "n_linked_glycans", "count": 14 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 10 }, { "field": "o_linked_glycan_sites", "count": 4 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 43 }, { "field": "total_sites", "count": 33 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 36 }, { "field": "total_sites", "count": 28 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 159 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }