{ "uniprot_canonical_ac": "P03951-1", "uniprot_ac": "P03951", "uniprot_id": "FA11_HUMAN", "mass": { "chemical_mass": 70109.0, "monoisotopic_mass": 70109.0 }, "refseq": { "ac": "NP_000119", "name": "coagulation factor XI isoform 1 preproprotein", "summary": "This gene encodes coagulation factor XI of the blood coagulation cascade. This protein is present in plasma as a zymogen, which is a unique plasma coagulation enzyme because it exists as a homodimer consisting of two identical polypeptide chains linked by disulfide bonds. During activation of the plasma factor XI, an internal peptide bond is cleaved by factor XIIa (or XII) in each of the two chains, resulting in activated factor XIa, a serine protease composed of two heavy and two light chains held together by disulfide bonds. This activated plasma factor XI triggers the middle phase of the intrisic pathway of blood coagulation by activating factor IX. Defects in this factor lead to Rosenthal syndrome, a blood coagulation abnormality. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000119" }, "gene_names": [ { "name": "F11", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P03951", "id": "P03951" }, { "name": "F11", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000119", "id": "NP_000119" }, { "name": "FXI; PTA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000119", "id": "NP_000119" } ], "protein_names": [ { "name": "Coagulation factor XI", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P03951" }, { "name": "3.4.21.27", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P03951" }, { "name": "FXI", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P03951" }, { "name": "PTA", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P03951" }, { "name": "Plasma thromboplastin antecedent", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P03951" }, { "name": "coagulation factor XI isoform 1 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000119", "id": "NP_000119" }, { "name": "plasma thromboplastin antecedent; coagualtion factor XI", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000119", "id": "NP_000119" } ], "function": [ { "annotation": "Elevated plasma factor XI predicts cardiovascular events in patients with type 2 diabetes: a long-term observational study. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000119", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000119" }, { "database": "PubMed", "id": "37460982", "url": "https://glygen.org/publication/PubMed/37460982" } ] }, { "annotation": "Factor XI triggers the middle phase of the intrinsic pathway of blood coagulation by activating factor IX.", "evidence": [ { "database": "UniProtKB", "id": "P03951", "url": "https://www.uniprot.org/uniprot/P03951#function" } ] }, { "annotation": "This gene encodes coagulation factor XI of the blood coagulation cascade. This protein is present in plasma as a zymogen, which is a unique plasma coagulation enzyme because it exists as a homodimer consisting of two identical polypeptide chains linked by disulfide bonds. During activation of the plasma factor XI, an internal peptide bond is cleaved by factor XIIa (or XII) in each of the two chains, resulting in activated factor XIa, a serine protease composed of two heavy and two light chains held together by disulfide bonds. This activated plasma factor XI triggers the middle phase of the intrisic pathway of blood coagulation by activating factor IX. Defects in this factor lead to Rosenthal syndrome, a blood coagulation abnormality. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000119", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000119" } ] }, { "annotation": "To provide a complete database of mutations and polymorphisms associated with factor XI deficiency, all available data on hereditary factor XI deficiency from main biological and medical databases were collected Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000119", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000119" }, { "database": "PubMed", "id": "15870541", "url": "https://glygen.org/publication/PubMed/15870541" } ] }, { "annotation": "[Analysis of a Chinese pedigree affected with Hereditary coagulation factor deficiency due to variant of F11 gene].", "evidence": [ { "database": "RefSeq", "id": "NP_000119", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000119" }, { "database": "PubMed", "id": "37906134", "url": "https://glygen.org/publication/PubMed/37906134" } ] } ], "disease": [ { "disease_id": "DOID:2229", "recommended_name": { "id": "DOID:2229", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2229", "name": "factor XI deficiency", "description": "A blood coagulation disease that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2." }, "synonyms": [ { "id": "DOID:2229", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2229", "name": "Congenital factor XI deficiency", "description": "" }, { "id": "DOID:2229", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2229", "name": "Hereditary factor XI deficiency disease", "description": "" }, { "id": "DOID:2229", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2229", "name": "Rosenthal's disease", "description": "" }, { "id": "DOID:2229", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2229", "name": "hemophilia C", "description": "" }, { "id": "DOID:2229", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2229", "name": "plasma thromboplastin antecedent deficiency", "description": "" }, { "id": "MONDO:0012897", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012897", "name": "congenital factor XI deficiency", "description": "Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery." }, { "id": "MONDO:0012897", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012897", "name": "PTA deficiency", "description": "" }, { "id": "MONDO:0012897", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012897", "name": "Rosenthal factor deficiency", "description": "" }, { "id": "MONDO:0012897", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012897", "name": "Rosenthal syndrome", "description": "" }, { "id": "MONDO:0012897", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012897", "name": "Rosenthal's disease", "description": "" }, { "id": "MONDO:0012897", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012897", "name": "congenital factor XI deficiency", "description": "" }, { "id": "MONDO:0012897", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012897", "name": "factor XI deficiency, autosomal dominant", "description": "" }, { "id": "MONDO:0012897", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012897", "name": "factor XI deficiency, autosomal recessive", "description": "" }, { "id": "MONDO:0012897", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012897", "name": "haemophilia C", "description": "" }, { "id": "MONDO:0012897", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012897", "name": "hemophilia C", "description": "" }, { "id": "MONDO:0012897", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012897", "name": "hereditary Factor XI deficiency", "description": "" }, { "id": "MONDO:0012897", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012897", "name": "hereditary factor XI deficiency", "description": "" }, { "id": "MONDO:0012897", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012897", "name": "hereditary factor XI deficiency disease", "description": "" }, { "id": "MONDO:0012897", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012897", "name": "plasma thromboplastin antecedent deficiency", "description": "" }, { "id": "MONDO:0012897", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012897", "name": "F11 deficiency", "description": "" }, { "id": "MONDO:0012897", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012897", "name": "factor 11 deficiency", "description": "" }, { "id": "MONDO:0012897", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012897", "name": "factor XI deficiency", "description": "" }, { "id": "MIM:612416", "resource": "MIM", "url": "https://www.omim.org/entry/612416", "name": "Factor XI deficiency", "description": "Factor XI deficiency" } ], "evidence": [ { "id": "612416", "database": "MIM", "url": "https://www.omim.org/entry/612416" } ] } ], "snv": [ { "evidence": [ { "id": "P03951", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P03951" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 199, "end_pos": 199, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NLA->NLS).", "chr_id": "4", "chr_pos": "186275896", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A199", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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", 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"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, 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"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": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P03951", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P03951" } ], "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 cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P03951", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P03951" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P03951", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P03951" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "D6RB32", "url": "https://www.uniprot.org/uniprot/D6RB32", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RB32-1", "url": "https://www.uniprot.org/uniprot/D6RB32-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y596", "url": "https://www.uniprot.org/uniprot/H0Y596", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y596-1", "url": "https://www.uniprot.org/uniprot/H0Y596-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P03951", "url": "https://www.uniprot.org/uniprot/P03951", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P03951-1", "url": "https://www.uniprot.org/uniprot/P03951-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P03951-2", "url": "https://www.uniprot.org/uniprot/P03951-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X6R3B1", "url": "https://www.uniprot.org/uniprot/X6R3B1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X6R3B1-1", "url": "https://www.uniprot.org/uniprot/X6R3B1-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKDSVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLEHRNICLLKHTQTGTPTRITKLDKVVSGFSLKSCALSNLACIRDIFPNTVFADSNIDSVMAPDAFVCGRICTHHPGCLFFTFFSQEWPKESQRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPVFCHSSFYHDTDFLGEELDIVAAKSHEACQKLCTNAVRCQFFTYTPAQASCNEGKGKCYLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEWPWQVTLHTTSPTQRHLCGGSIIGNQWILTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGYDIALLKLETTVNYTDSQRPICLPSKGDRNVIYTDCWVTGWGYRKLRDKIQNTLQKAKIPLVTNEECQKRYRGHKITHKMICAGYREGGKDACKGDSGGPLSCKHNEVWHLVGITSWGEGCAQRERPGVYTNVVEYVDWILEKTQAV", "length": 625, "header": "sp|P03951-1|FA11_HUMAN Isoform 1 of Coagulation factor XI OS=Homo sapiens OX=9606 GN=F11 PE=1 SV=1 CANONICAL=P03951-1" }, "isoforms": [ { "isoform_ac": "D6RB32-1", "url": "", "sequence": { "sequence": "MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKDSVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLEHR", "length": 162, "header": "tr|D6RB32-1|D6RB32_HUMAN Computationally mapped isoform of Coagulation factor XI OS=Homo sapiens OX=9606 GN=F11 PE=1 SV=1 CANONICAL=P03951-1" }, "locus": { "chromosome": "4", "start_pos": 186274276, "end_pos": 186267137, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000492972.6", "url": "https://www.ensembl.org/id/ENST00000492972.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000424479.1", "url": "https://www.ensembl.org/id/ENSP00000424479.1" } ] } }, { "isoform_ac": "H0Y596-1", "url": "", "sequence": { "sequence": "XSGFSLKSCALSNLACIRDIFPNTVFADSNIDSVMAPDAFVCGRICTHHPGCLFFTFFSQEWPKESQRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPVFCHSSFYHDTDFLGEELDIVAAKSHEACQKLCTNAVRCQFFTYTPAQASCNEGKGKCYLKLSSNGSPTKILHGRGGISGYTLRLCKMDNELRGAPMKISGWLKTS", "length": 210, "header": "tr|H0Y596-1|H0Y596_HUMAN Computationally mapped isoform of Coagulation factor XI OS=Homo sapiens OX=9606 GN=F11 PE=1 SV=1 CANONICAL=P03951-1" }, "locus": { "chromosome": "4", "start_pos": 186281982, "end_pos": 186275855, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000452239.1", "url": "https://www.ensembl.org/id/ENST00000452239.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000397401.1", "url": "https://www.ensembl.org/id/ENSP00000397401.1" } ] } }, { "isoform_ac": "P03951-1", "url": "", "sequence": { "sequence": "MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKDSVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLEHRNICLLKHTQTGTPTRITKLDKVVSGFSLKSCALSNLACIRDIFPNTVFADSNIDSVMAPDAFVCGRICTHHPGCLFFTFFSQEWPKESQRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPVFCHSSFYHDTDFLGEELDIVAAKSHEACQKLCTNAVRCQFFTYTPAQASCNEGKGKCYLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEWPWQVTLHTTSPTQRHLCGGSIIGNQWILTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGYDIALLKLETTVNYTDSQRPICLPSKGDRNVIYTDCWVTGWGYRKLRDKIQNTLQKAKIPLVTNEECQKRYRGHKITHKMICAGYREGGKDACKGDSGGPLSCKHNEVWHLVGITSWGEGCAQRERPGVYTNVVEYVDWILEKTQAV", "length": 625, "header": "sp|P03951-1|FA11_HUMAN Isoform 1 of Coagulation factor XI OS=Homo sapiens OX=9606 GN=F11 PE=1 SV=1 CANONICAL=P03951-1" }, "locus": { "chromosome": "4", "start_pos": 186288611, "end_pos": 186267137, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000403665.7", "url": "https://www.ensembl.org/id/ENST00000403665.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000384957.2", "url": "https://www.ensembl.org/id/ENSP00000384957.2" } ] } }, { "isoform_ac": "P03951-2", "url": "", "sequence": { "sequence": "MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKDSVTETLPRVNRTAAISGYSFKQCSHQISNICLLKHTQTGTPTRITKLDKVVSGFSLKSCALSNLACIRDIFPNTVFADSNIDSVMAPDAFVCGRICTHHPGCLFFTFFSQEWPKESQRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPVFCHSSFYHDTDFLGEELDIVAAKSHEACQKLCTNAVRCQFFTYTPAQASCNEGKGKCYLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEWPWQVTLHTTSPTQRHLCGGSIIGNQWILTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGYDIALLKLETTVNYTDSQRPICLPSKGDRNVIYTDCWVTGWGYRKLRDKIQNTLQKAKIPLVTNEECQKRYRGHKITHKMICAGYREGGKDACKGDSGGPLSCKHNEVWHLVGITSWGEGCAQRERPGVYTNVVEYVDWILEKTQAV", "length": 571, "header": "sp|P03951-2|FA11_HUMAN Isoform 2 of Coagulation factor XI OS=Homo sapiens OX=9606 GN=F11 PE=1 SV=1 CANONICAL=P03951-1" }, "locus": {} }, { "isoform_ac": "X6R3B1-1", "url": "", "sequence": { "sequence": "XVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGYDIALLKLETTVNYTDKIQNTLQKAKIPLVTNEECQKRYRGHKITHKMICAGYREGGKDACKGDSGGPLSCKHNEVWHLVGITSWGEGCAQRERPGVYTNVVEYVDWILEKTQAV", "length": 159, "header": "tr|X6R3B1-1|X6R3B1_HUMAN Computationally mapped isoform of Coagulation factor XI OS=Homo sapiens OX=9606 GN=F11 PE=1 SV=1 CANONICAL=P03951-1" }, "locus": { "chromosome": "4", "start_pos": 186288613, "end_pos": 186285638, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000264691.4", "url": "https://www.ensembl.org/id/ENST00000264691.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000264691.4", "url": "https://www.ensembl.org/id/ENSP00000264691.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G06356OH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 126, "start_aa": "Asn", "end_pos": 126, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn126", "evidence": [ { "id": "818", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/818" }, { "id": "25092234", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25092234" } ] }, { "glytoucan_ac": "G08146BT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 126, "start_aa": "Asn", "end_pos": 126, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn126", "evidence": [ { "id": "818", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/818" }, { "id": "25092234", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25092234" } ] }, { "glytoucan_ac": "G13661YX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 126, "start_aa": "Asn", "end_pos": 126, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn126", "evidence": [ { "id": "818", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/818" }, { "id": "25092234", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25092234" } ] }, { "glytoucan_ac": "G22310AV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 126, "start_aa": "Asn", "end_pos": 126, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn126", "evidence": [ { "id": "818", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/818" }, { "id": "25092234", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25092234" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G37868ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 126, "start_aa": "Asn", "end_pos": 126, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn126", "evidence": [ { "id": "818", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/818" }, { "id": "25092234", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25092234" } ] }, { "glytoucan_ac": "G42358LZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 126, "start_aa": "Asn", "end_pos": 126, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn126", "evidence": [ { "id": "818", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/818" }, { "id": "25092234", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25092234" } ] }, { "glytoucan_ac": "G47518TP", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 126, "start_aa": "Asn", "end_pos": 126, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn126", "evidence": [ { "id": "818", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/818" }, { "id": "25092234", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25092234" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 126, "start_aa": "Asn", "end_pos": 126, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn126", "evidence": [ { "id": "818", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/818" }, { "id": "25092234", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25092234" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "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": 126, "start_aa": "Asn", "end_pos": 126, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn126", "evidence": [ { "id": "818", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/818" }, { "id": "25092234", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25092234" } ] }, { "glytoucan_ac": "G56784JY", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 126, "start_aa": "Asn", "end_pos": 126, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn126", "evidence": [ { "id": "818", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/818" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G75983OB", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 126, "start_aa": "Asn", "end_pos": 126, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn126", "evidence": [ { "id": "818", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/818" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G93860XO", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 126, "start_aa": "Asn", "end_pos": 126, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn126", "evidence": [ { "id": "818", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/818" }, { "id": "25092234", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25092234" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "Complex", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) (complex) asparagine Complex", "start_pos": 126, "start_aa": "Asn", "end_pos": 126, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn126", "evidence": [ { "id": "P03951", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03951#ptm_processing" }, { "id": "25092234", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25092234" }, { "id": "16335952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G06356OH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 163, "start_aa": "Asn", "end_pos": 163, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn163", "evidence": [ { "id": "818", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/818" }, { "id": "25092234", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25092234" } ] }, { "glytoucan_ac": "G37868ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 163, "start_aa": "Asn", "end_pos": 163, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn163", "evidence": [ { "id": "818", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/818" }, { "id": "25092234", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25092234" } ] }, { "glytoucan_ac": "G42358LZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 163, "start_aa": "Asn", "end_pos": 163, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn163", "evidence": [ { "id": "818", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/818" }, { "id": "25092234", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25092234" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 163, "start_aa": "Asn", "end_pos": 163, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn163", "evidence": [ { "id": "818", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/818" }, { "id": "25092234", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25092234" } ] }, { "glytoucan_ac": "G57888GL", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 163, "start_aa": "Asn", "end_pos": 163, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn163", "evidence": [ { "id": "818", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/818" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "Complex", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) (complex) asparagine; atypical Complex", "start_pos": 163, "start_aa": "Asn", "end_pos": 163, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn163", "evidence": [ { "id": "P03951", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03951#ptm_processing" }, { "id": "25092234", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25092234" } ] }, { "glytoucan_ac": "G06356OH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 450, "start_aa": "Asn", "end_pos": 450, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn450", "evidence": [ { "id": "818", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/818" }, { "id": "25092234", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25092234" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G08146BT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 450, "start_aa": "Asn", "end_pos": 450, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn450", "evidence": [ { "id": "818", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/818" }, { "id": "25092234", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25092234" } ] }, { "glytoucan_ac": "G11629QQ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 450, "start_aa": "Asn", "end_pos": 450, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn450", "evidence": [ { "id": "818", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/818" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": 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"G37868ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 450, "start_aa": "Asn", "end_pos": 450, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn450", "evidence": [ { "id": "818", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/818" }, { "id": "25092234", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25092234" } ] }, { "glytoucan_ac": "G37881RL", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 450, "start_aa": "Asn", "end_pos": 450, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn450", "evidence": [ { "id": "818", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/818" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G42358LZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 450, "start_aa": "Asn", "end_pos": 450, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn450", "evidence": [ { "id": "818", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/818" }, { "id": "25092234", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25092234" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 450, "start_aa": "Asn", "end_pos": 450, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn450", "evidence": [ { "id": "818", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/818" }, { "id": "25092234", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25092234" }, { "id": "29741879", "database": 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"evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "11342438", "url": "https://glygen.org/publication/PubMed/11342438" } ] }, { "title": "Localization of a heparin binding site in the catalytic domain of factor XIa.", "journal": "Biochemistry", "date": "2001", "authors": "Badellino K O, Walsh P N", "evidence": [ { "database": "UniProtKB", "id": "P03951", "url": "https://www.uniprot.org/uniprot/P03951" } ], "reference": [ { "type": "PubMed", "id": "11412111", "url": "https://glygen.org/publication/PubMed/11412111" } ] }, { "title": "Factor XI binding to the platelet glycoprotein Ib-IX-V complex promotes factor XI activation by thrombin.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Baglia FA, Badellino KO, Li CQ, Lopez JA, Walsh PN", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": 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Chem.", "date": "1998", "authors": "Hsu T C, Shore S K, Seshsmma T, Bagasra O, Walsh P N", "evidence": [ { "database": "UniProtKB", "id": "P03951", "url": "https://www.uniprot.org/uniprot/P03951" } ], "reference": [ { "type": "PubMed", "id": "9593722", "url": "https://glygen.org/publication/PubMed/9593722" } ] }, { "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": "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": "Identification of mutations and polymorphisms in the factor XI genes of an African American family by dideoxyfingerprinting.", "journal": "Blood", "date": "1998", "authors": "Martincic D, Zimmerman SA, Ware RE, Sun MF, Whitlock JA, Gailani D", "evidence": [ { "database": "UniProtKB", "id": "P03951", "url": "https://www.uniprot.org/uniprot/P03951" } ], "reference": [ { "type": "PubMed", "id": "9787168", "url": "https://glygen.org/publication/PubMed/9787168" } ] }, { "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:2160", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2160", "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-9673221", "name": "Defective F9 activation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9673221", "resource": "Reactome", "description": "Defective F9 activation" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A0G2K4I9-1", "protein_name": "Coagulation factor XI", "gene_name": "F11", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MTSLQQVLYFIFFASVSSECITKVFKDISFQGGDLSTVFTPSATYCQLVCTHHPRCLLFTFMAESSSDDPTKWFACILKDSLTETLPMVHMTGAVSGYSFKQCPQQLSACSKNVYVNLDMKGMNYNSSAVKNARECQERCTNDAHCQFFTYATGHFPSVDHRKMCLLKYTQMGTPTSITKLDSVVSGFSLKSCGLSNLACIRDIFPNTVLADLNIDSVLAPDAFVCRRICTHHPTCLFFTFFTQAWPKESQRHLCLLKTSESGFPSTRITKSNALSGFSLQHCRHSIPVFCHPNFYNDTDFLGEELDIVDVKGKESCQKMCSDNVRCQFFTYYPSRGSCSERNRRGRCYLKLSSNGSPTRILHGRGGISGYTLRLCKMDNVCTTKIRPRVFGGAASVHGEWPWQVTLHTTQGHLCGGSIIGNRWILTAAHCFSGTETPKTLRVYGGIVNQSEINEDTTFFRVQEMIIHDQYTSAESGFDIALLKLEPAMNYTDFQRPICLPSKGDRNVVHTECWVTGWGYTKSRDEVQSTLQKAKVPLVSNEECQTRYRKHKITNKVICAGYKEGGKDTCKGDSGGPLSCKHNGVWHLVGITSWGEGCGQKERPGVYTNVAKYVDWILEKTQSE", "length": 624 }, "evidence": [ { "id": "P03951", "url": "https://omabrowser.org/oma/group/P03951/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q91Y47-1", "protein_name": "Coagulation factor XI", "gene_name": "F11", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MTSLHQVLYFIFFASVSSECVTKVFKDISFQGGDLSTVFTPSATYCRLVCTHHPRCLLFTFMAESSSDDPTKWFACILKDSVTEILPMVNMTGAISGYSFKQCPQQLSTCSKDVYVNLDMKGMNYNSSVVKNARECQERCTDDAHCQFFTYATGYFPSVDHRKMCLLKYTRTGTPTTITKLNGVVSGFSLKSCGLSNLACIRDIFPNTVLADLNIDSVVAPDAFVCRRICTHHPTCLFFTFFSQAWPKESQRHLCLLKTSESGLPSTRITKSHALSGFSLQHCRHSVPVFCHPSFYNDTDFLGEELDIVDVKGQETCQKTCTNNARCQFFTYYPSHRLCNERNRRGRCYLKLSSNGSPTRILHGRGGISGYSLRLCKMDNVCTTKINPRVVGGAASVHGEWPWQVTLHISQGHLCGGSIIGNQWILTAAHCFSGIETPKKLRVYGGIVNQSEINEGTAFFRVQEMIIHDQYTTAESGYDIALLKLESAMNYTDFQRPICLPSKGDRNAVHTECWVTGWGYTALRGEVQSTLQKAKVPLVSNEECQTRYRRHKITNKMICAGYKEGGKDTCKGDSGGPLSCKYNGVWHLVGITSWGEGCGQKERPGVYTNVAKYVDWILEKTQTV", "length": 624 }, "evidence": [ { "id": "45933717", "url": "http://www.informatics.jax.org/homology/45933717", "database": "MGI" }, { "id": "P03951", "url": "https://omabrowser.org/oma/group/P03951/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P03951", "url": "https://www.uniprot.org/uniprot/P03951" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P03951", "url": "https://www.uniprot.org/uniprot/P03951" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P03951", "url": "https://www.uniprot.org/uniprot/P03951" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P03951", "url": "https://www.uniprot.org/uniprot/P03951" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P03951", "url": "https://www.uniprot.org/uniprot/P03951" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P03951", "url": "https://www.uniprot.org/uniprot/P03951" } ], "pmid": "" }, { "name": "blood coagulation", "id": "GO:0007596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "database": "UniProtKB", "id": "P03951", "url": "https://www.uniprot.org/uniprot/P03951" } ], "pmid": "" }, { "name": "plasminogen activation", "id": "GO:0031639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031639", "evidence": [ { "database": "UniProtKB", "id": "P03951", "url": "https://www.uniprot.org/uniprot/P03951" } ], "pmid": "" }, { "name": "positive regulation of fibrinolysis", "id": "GO:0051919", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051919", "evidence": [ { "database": "UniProtKB", "id": "P03951", "url": "https://www.uniprot.org/uniprot/P03951" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "P03951", "url": "https://www.uniprot.org/uniprot/P03951" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P03951", "url": "https://www.uniprot.org/uniprot/P03951" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P03951", "url": "https://www.uniprot.org/uniprot/P03951" } ], "pmid": "" }, { "name": "serine-type aminopeptidase activity", "id": "GO:0070009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070009", "evidence": [ { "database": "UniProtKB", "id": "P03951", "url": "https://www.uniprot.org/uniprot/P03951" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "coagulation factor XI N-glycosylated 1 (human)", "definition": "A coagulation factor XI (human) that has been N-glycosylated at the residue equivalent to Asn-491 of the amino acid sequence represented by UniProtKB:P03951-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P03951-1, Asn-491, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053123", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053123" } ] }, { "name": "coagulation factor XI N-glycosylated 2 (human)", "definition": "A coagulation factor XI (human) that has been N-glycosylated at the residue equivalent to Asn-491 of the amino acid sequence represented by UniProtKB:P03951-1, in which the glycan structure is represented by GlyTouCan:G08146BT. Example: UniProtKB:P03951-1, Asn-491, MOD:00160~GNO:G08146BT. [PRO:DNx, PMID:25092234]", "evidence": [ { "id": "PR:000053124", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053124" } ] }, { "name": "coagulation factor XI N-glycosylated 3 (human)", "definition": "A coagulation factor XI (human) that has been N-glycosylated at the residue equivalent to Asn-491 of the amino acid sequence represented by UniProtKB:P03951-1, in which the glycan composition is represented by GlyTouCan:G10486CT. Example: UniProtKB:P03951-1, Asn-491, MOD:00160~GNO:G10486CT. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053125", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053125" } ] }, { "name": "coagulation factor XI N-glycosylated 4 (human)", "definition": "A coagulation factor XI (human) that has been N-glycosylated at the residue equivalent to Asn-491 of the amino acid sequence represented by UniProtKB:P03951-1, in which the glycan structure is represented by GlyTouCan:G22140GZ. Example: UniProtKB:P03951-1, Asn-491, MOD:00160~GNO:G22140GZ. [PRO:DNx, PMID:25092234]", "evidence": [ { "id": "PR:000053126", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053126" } ] }, { "name": "coagulation factor XI N-glycosylated 5 (human)", "definition": "A coagulation factor XI (human) that has been N-glycosylated at the residue equivalent to Asn-491 of the amino acid sequence represented by UniProtKB:P03951-1, in which the glycan structure is represented by GlyTouCan:G42358LZ. Example: UniProtKB:P03951-1, Asn-491, MOD:00160~GNO:G42358LZ. [PRO:DNx, PMID:25092234]", "evidence": [ { "id": "PR:000053127", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053127" } ] }, { "name": "coagulation factor XI N-glycosylated 6 (human)", "definition": "A coagulation factor XI (human) that has been N-glycosylated at the residue equivalent to Asn-491 of the amino acid sequence represented by UniProtKB:P03951-1, in which the glycan structure is represented by GlyTouCan:G57818FI. Example: UniProtKB:P03951-1, Asn-491, MOD:00160~GNO:G57818FI. [PRO:DNx, PMID:25092234]", "evidence": [ { "id": "PR:000053128", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053128" } ] }, { "name": "coagulation factor XI N-glycosylated 7 (human)", "definition": "A coagulation factor XI (human) that has been N-glycosylated at the residue equivalent to Asn-491 of the amino acid sequence represented by UniProtKB:P03951-1, in which the glycan composition is represented by GlyTouCan:G59626AS. Example: UniProtKB:P03951-1, Asn-491, MOD:00160~GNO:G59626AS. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053129", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053129" } ] }, { "name": "coagulation factor XI N-glycosylated 8 (human)", "definition": "A coagulation factor XI (human) that has been N-glycosylated at the residue equivalent to Asn-491 of the amino acid sequence represented by UniProtKB:P03951-1, in which the glycan structure is represented by GlyTouCan:G93860XO. Example: UniProtKB:P03951-1, Asn-491, MOD:00160~GNO:G93860XO. [PRO:DNx, PMID:25092234]", "evidence": [ { "id": "PR:000053130", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053130" } ] } ], "site_annotation": [ { "start_pos": 126, "end_pos": 128, "annotation": "n_glycosylation_sequon" }, { "start_pos": 353, "end_pos": 355, "annotation": "n_glycosylation_sequon" }, { "start_pos": 450, "end_pos": 452, "annotation": "n_glycosylation_sequon" }, { "start_pos": 491, "end_pos": 493, "annotation": "n_glycosylation_sequon" }, { "start_pos": 90, "end_pos": 92, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "N-glycosylated on both chains. N-glycosylated sites mainly consist of nonfucosylated sialylated biantennary (in high abundance) and/or triantennary (in low abundance) complex structures. Glycosylation at Asn-163 uses a rare non-canonical Asn-X-Cys glycosite.", "evidence": [ { "database": "UniProtKB", "id": "P03951", "url": "https://www.uniprot.org/uniprot/P03951" }, { "database": "PubMed", "id": "25092234", "url": "https://glygen.org/publication/PubMed/25092234" } ] } ], "interactions": [], "reactions": [ { "id": "R-HSA-158145", "name": "factor XI + platelet glycoprotein (GP) Ib:IX:V complex -> factor XI:platelet glycoprotein (GP) Ib:IX:V complex", "equation": "", "summary": "Plasma factor XI binds to the platelet glycoprotein Ib:IX:V complex (Baglia et al. 2002; Greengard et al. 1986). In the body, this reaction occurs specifically on the surfaces of activated platelets, but not on endothelial cells (Baird and Walsh 2002). The stoichiometry of the platelet glycoprotein Ib:IX:V complex has not been established directly, but is inferred from the relative abundances of its components in platelet membranes (Modderman et al. 1992; Shrimpton et al. 2002).", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P03951-1" ], "evidence": [ { "id": "R-HSA-158145", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-158145" } ] }, { "id": "R-HSA-158300", "name": "factor XI:platelet glycoprotein (GP) Ib:IX:V complex -> factor XIa:platelet glycoprotein (GP) Ib:IX:V complex (XIIa catalyst)", "equation": "", "summary": "Factor XI, bound to the cell surface, is converted to activated factor XI (factor XIa). Chemically, this reaction involves the cleavage of a single peptide bond in each subunit of the factor XI homodimer; intra- and inter-chain disulfide bonds hold the resulting four polypeptides together (Bouma and Griffin 1977; Kurachi and Davie 1977; McMullen et al. 1991). In the body, this reaction occurs on the surfaces of activated platelets (Greengard et al. 1986; Baglia et al. 2002; Baird and Walsh 2002); when this reaction occurs as a step in the intrinsic (\\contact\\) pathway of blood coagulation, it is catalyzed by activated factor XIIa (Kurachi and Davie 1977, Baglia and Walsh 2000) which in turn is generated through the interactions of factor XII, kallikrein, and kininogen on endothelial cell surfaces (Schmaier 2004).;", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00748-1", "P03951-1" ], "evidence": [ { "id": "R-HSA-158300", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-158300" } ] }, { "id": "R-HSA-158333", "name": "factor IX -> factor IXa + factor IX activation peptide (factor XIa catalyst)", "equation": "", "summary": "The mature factor IX (FIX) is secreted and circulates in the plasma as an inactive 57kDa zymogen form F9(47-461). Activation of FIX involves cleavage of two peptide bonds, at arginine 191 (R191-A192, the \u03b1-cleavage) and at arginine 226 (R226-V227, the \u03b2-cleavage), releasing an activation peptide (A192-R226) (Di Scipio RG et al. 1978; Z\u00f6gg T & Brandstetter H 2009). The activation peptide has no known function. This calcium-dependent reaction is catalyzed by factor XIa (FXIa), bound to platelet glycoprotein (GP) Ib:IX:V on the platelet cell surface (Osterud B et al. 1978; Gailani D et al. 2001; Geng Y et al. 2012). Binding studies showed that FIX does not bind to FXIa in the absence of calcium (Geng Y et al. 2012). Structural studies suggest that both activation of factor XI and binding it to FIX induced conformational changes at the interface between the catalytic and the apple domains of the activated FXIa. The conformational changes of FXIa increased the accessibility to the apple 3 (A3) domain to enable FIX binding (Geng Y et al. 2012; Bar Barroeta A et al. 2019). FIX activation is ordered. FIX first binds to the FXIa A3 domain followed by engagement at the protease active site and cleavage of the R191-Al192 bond (Geng Y et al. 2012, 2013; Gailani D et al. 2014). The cleavage after R191 facilitates cleavage of the R226-V227 bond, forming the activated FIXa (also known as factor IXa\u03b2). Catalytic efficiency for the second cleavage by FXIa is 7-fold greater than for the first cleavage, explaining the low accumulation of the \u03b1-cleavage product of FIX (Wolberg AS et al. 1997; Smith SB et al. 2008; Geng Y et al. 2012; Mohammed BM et al. 2018). Activated FIXa comprises an N-terminal light chain and a C-terminal heavy chain held together by a disulphide bridge between cysteine resides 178 and 335 (Di Scipio RG et al. 1978; Z\u00f6gg T & Brandstetter H 2009). X-ray structure of the FIXa EGF2/protease domain at 1.37 A revealed that a Na+-binding site in association with Ca2+-binding site contributed to stabilization of the FIXa protease domain (Vadivel K et al. 2019).", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00740-1", "P03951-1" ], "evidence": [ { "id": "R-HSA-158333", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-158333" } ] }, { "id": "R-HSA-158419", "name": "factor XI:platelet glycoprotein (GP) Ib:IX:V complex -> factor XIa:platelet glycoprotein (GP) Ib:IX:V complex (thrombin catalyst)", "equation": "", "summary": "Factor XI, bound to the cell surface, is converted to activated factor XI (factor XIa). In the body, this reaction occurs on the surfaces of activated platelets (Baglia et al. 2002). Small quantities of factor XI can be activated in a reaction catalyzed by factor XIIa, to initiate formation of a fibrin clot. However, the efficient activation of larger quantities of factor XI, needed to propagate the blood clotting process, appears to be mediated by thrombin (Baglia and Walsh 2000; Gailani and Broze 1993; Naito and Fujikawa 1991; Oliver et al. 1999; Monroe et al. 2002).", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P04070-1", "P00734-1", "P03951-1" ], "evidence": [ { "id": "R-HSA-158419", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-158419" } ] }, { "id": "R-HSA-9673223", "name": "FIX(29-461) variant is not activated (factor XIa catalyst)", "equation": "", "summary": "In healthy individuals, conversion of factor IX (FIX) to the activated FIX is a calcium-dependent process catalyzed by factor VIIa (FVIIa) in the presence of tissue factor and phosphatidyl serine-rich phospholipid (Vadivel K & Bajaj SP 2012) or by factor XIa (FXIa) in a phospholipid-independent reaction (Wolberg AS et al. 1997; Smith SB et al. 2008; Geng Y et al. 2012). Regardless of the activating protease, FIX is cleaved first after Arg191 (R191-A192, the \u03b1-cleavage) forming the intermediate FIX product, then after the residue 226 (R226-V227, the \u03b2-cleavage) to form the activated FIXa (FIXa\u03b2) (Smith SB et al. 2008; Geng Y et al. 2012; Mohammed BM et al. 2018). Deficiency or dysfunction of FIX leads to hemophilia B (HB), an X-linked, recessive, bleeding disorder. On a molecular level, HB is due to a heterogeneous spectrum of mutations spread throughout the F9 gene (Rallapalli PM et al. 2013).

The Reactome event describes the defective proteolytic activation of FIX by factor XIa due to the presence of HB-associated point mutations R191C, R191H, R226Q and R226W in the cleavage sites of FIX (Liddell MB et al. 1989; Monroe DM et al. 1989; Suehiro K et al. 1989; Diuguid DL et al. 1989; Bertina RM et al.1990). In addition, naturally occurring point mutations in the FIX propeptide sequence such as R43Q, R43L or R46S are also annotated here. These FIX variants are secreted into the circulation with a mutant 18-amino acid propeptide still attached (Bentley AK et al. 1986; Galeffi P & Brownlee GG 1987). The unprocessed FIX variants were found to affect the function of the protein by destabilizing the calcium-induced conformation of FIX (Wojcik EG et al. 1997) and showed delayed activation by FXIa (Liddell MB et al. 1989; Ware J et al. 1989; de la Salle C et al. 1993; Wojcik EG et al. 1997; Bristol JA et al. 1993).


", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00740-1", "P03951-1" ], "evidence": [ { "id": "R-HSA-9673223", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9673223" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "P00734", "gene_name": "F2", "activity": [ { "ec_number": "3.4.21.5", "activity": "Selective cleavage of Arg-|-Gly bonds in fibrinogen to form fibrin and release fibrinopeptides A and B.", "evidence": [ { "id": "P00734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00734" } ] }, { "ec_number": "3.4.21.5", "activity": "", "evidence": [ { "id": "P00734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00734" } ] } ] }, { "uniprot_ac": "P00740", "gene_name": "F9", "activity": [ { "ec_number": "3.4.21.22", "activity": "Selective cleavage of Arg-|-Ile bond in factor X to form factor 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"UniProtKB", "url": "https://www.uniprot.org/uniprot/P03951" } ] }, { "ec_number": "3.4.21.27", "activity": "", "evidence": [ { "id": "P03951", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03951" } ] } ] }, { "uniprot_ac": "P04070", "gene_name": "PROC", "activity": [ { "ec_number": "3.4.21.69", "activity": "Degradation of blood coagulation factors Va and VIIIa.", "evidence": [ { "id": "P04070", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04070" } ] }, { "ec_number": "3.4.21.69", "activity": "", "evidence": [ { "id": "P04070", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04070" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 90, 126, 163, 450, 491 ], "o_linked_sites": [], "snv_sites": [ 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