{ "uniprot_canonical_ac": "P08709-1", "uniprot_ac": "P08709", "uniprot_id": "FA7_HUMAN", "mass": { "chemical_mass": 51594.0, "monoisotopic_mass": 51594.0 }, "refseq": { "ac": "NP_000122", "name": "coagulation factor VII isoform a preproprotein", "summary": "This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential for hemostasis. This factor circulates in the blood in a zymogen form, and is converted to an active form by either factor IXa, factor Xa, factor XIIa, or thrombin by minor proteolysis. Upon activation of the factor VII, a heavy chain containing a catalytic domain and a light chain containing 2 EGF-like domains are generated, and two chains are held together by a disulfide bond. In the presence of factor III and calcium ions, the activated factor then further activates the coagulation cascade by converting factor IX to factor IXa and/or factor X to factor Xa. Defects in this gene can cause coagulopathy. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature polypeptides. [provided by RefSeq, Aug 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000122" }, "gene_names": [ { "name": "F7", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P08709", "id": "P08709" }, { "name": "F7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000122", "id": "NP_000122" }, { "name": "SPCA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000122", "id": "NP_000122" } ], "protein_names": [ { "name": "Coagulation factor VII", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P08709" }, { "name": "3.4.21.21", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08709" }, { "name": "Proconvertin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08709" }, { "name": "SPCA", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08709" }, { "name": "Serum prothrombin conversion accelerator", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08709" }, { "name": "coagulation factor VII isoform a preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000122", "id": "NP_000122" }, { "name": "eptacog alfa; FVII coagulation protein; coagulation factor VII (serum prothrombin conversion accelerator); proconvertin", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000122", "id": "NP_000122" } ], "function": [ { "annotation": "Acquired factor VII deficiency in pediatric inflammatory bowel disease: Report of three cases.", "evidence": [ { "database": "RefSeq", "id": "NP_000122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000122" }, { "database": "PubMed", "id": "37993374", "url": "https://glygen.org/publication/PubMed/37993374" } ] }, { "annotation": "Factor VII Padua in Iran: clinical and laboratory findings of three unrelated patients.", "evidence": [ { "database": "RefSeq", "id": "NP_000122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000122" }, { "database": "PubMed", "id": "36719811", "url": "https://glygen.org/publication/PubMed/36719811" } ] }, { "annotation": "Factor VII deficiency: A cause of (or risk factor for) bleeding?", "evidence": [ { "database": "RefSeq", "id": "NP_000122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000122" }, { "database": "PubMed", "id": "37042485", "url": "https://glygen.org/publication/PubMed/37042485" } ] }, { "annotation": "Initiates the extrinsic pathway of blood coagulation. Serine protease that circulates in the blood in a zymogen form. Factor VII is converted to factor VIIa by factor Xa, factor XIIa, factor IXa, or thrombin by minor proteolysis. In the presence of tissue factor and calcium ions, factor VIIa then converts factor X to factor Xa by limited proteolysis. Factor VIIa will also convert factor IX to factor IXa in the presence of tissue factor and calcium.", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709#function" } ] }, { "annotation": "Structural and functional characterization of novel F7 mutations identified in Chinese factor VII-deficient patients.", "evidence": [ { "database": "RefSeq", "id": "NP_000122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000122" }, { "database": "PubMed", "id": "36951360", "url": "https://glygen.org/publication/PubMed/36951360" } ] }, { "annotation": "This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential for hemostasis. This factor circulates in the blood in a zymogen form, and is converted to an active form by either factor IXa, factor Xa, factor XIIa, or thrombin by minor proteolysis. Upon activation of the factor VII, a heavy chain containing a catalytic domain and a light chain containing 2 EGF-like domains are generated, and two chains are held together by a disulfide bond. In the presence of factor III and calcium ions, the activated factor then further activates the coagulation cascade by converting factor IX to factor IXa and/or factor X to factor Xa. Defects in this gene can cause coagulopathy. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature polypeptides. [provided by RefSeq, Aug 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_000122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000122" } ] } ], "disease": [ { "disease_id": "DOID:2215", "recommended_name": { "id": "DOID:2215", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2215", "name": "factor VII deficiency", "description": "A blood coagulation disease that is characterized by easy bleeding, has_symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade." }, "synonyms": [ { "id": "DOID:2215", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2215", "name": "deficiency, stable", "description": "" }, { "id": "MONDO:0009211", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009211", "name": "congenital factor VII deficiency", "description": "Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor." }, { "id": "MONDO:0009211", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009211", "name": "congenital factor VII deficiency", "description": "" }, { "id": "MONDO:0009211", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009211", "name": "congenital proconvertin deficiency", "description": "" }, { "id": "MONDO:0009211", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009211", "name": "hypoproconvertinemia", "description": "" }, { "id": "MONDO:0009211", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009211", "name": "F7 deficiency", "description": "" }, { "id": "MONDO:0009211", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009211", "name": "factor 7 deficiency", "description": "" }, { "id": "MONDO:0009211", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009211", "name": "factor VII deficiency", "description": "" }, { "id": "MIM:227500", "resource": "MIM", "url": "https://www.omim.org/entry/227500", "name": "Factor VII deficiency", "description": "Factor VII deficiency" } ], "evidence": [ { "id": "227500", "database": "MIM", "url": "https://www.omim.org/entry/227500" } ] } ], "snv": [ { "evidence": [ { "id": "rs770921472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770921472" }, { "id": "rs770921472", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770921472" }, { "id": "rs770921472", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770921472#frequency_tab" }, { "id": "rs770921472", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770921472" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 120, "end_pos": 120, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->A).", "chr_id": "13", "chr_pos": "113113888", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S120", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1466003668", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1466003668" }, { "id": "rs1466003668", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1466003668#frequency_tab" }, { "id": "rs1466003668", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1466003668" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 120, "end_pos": 120, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "13", "chr_pos": "113113889", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S120", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763458490", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763458490" }, { "id": "rs763458490", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763458490" }, { "id": "rs763458490", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763458490#frequency_tab" }, { "id": "rs763458490", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763458490" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 157, "end_pos": 157, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGG->NGS).", "chr_id": "13", "chr_pos": "113115698", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G157", "disease": [ { "disease_id": "DOID:2215", "recommended_name": { "id": "DOID:2215", 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"https://www.omim.org/entry/227500", "name": "Factor VII deficiency", "description": "Factor VII deficiency" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs752821492", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752821492" }, { "id": "rs752821492", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752821492" }, { "id": "rs752821492", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752821492" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 207, "end_pos": 207, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->NAC).", "chr_id": "13", "chr_pos": "113116813", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S207", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752821492", "database": "dbSNP", 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"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 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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, 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": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P08709", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08709" } ], "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", 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"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", 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P08709", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08709" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P08709", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08709" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P08709", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08709" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"R-HSA-1368108", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1368108", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-140834", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140834", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-159740", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159740", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-159763", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159763", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-159782", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159782", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000122", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P08709", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "E9PH36", "url": "https://www.uniprot.org/uniprot/E9PH36", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PH36-1", "url": "https://www.uniprot.org/uniprot/E9PH36-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H8B0", "url": "https://www.uniprot.org/uniprot/F5H8B0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H8B0-1", "url": "https://www.uniprot.org/uniprot/F5H8B0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08709-1", "url": "https://www.uniprot.org/uniprot/P08709-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08709-2", "url": "https://www.uniprot.org/uniprot/P08709-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MVSQALRLLCLLLGLQGCLAAGGVAKASGGETRDMPWKPGPHRVFVTQEEAHGVLHRRRRANAFLEELRPGSLERECKEEQCSFEEAREIFKDAERTKLFWISYSDGDQCASSPCQNGGSCKDQLQSYICFCLPAFEGRNCETHKDDQLICVNENGGCEQYCSDHTGTKRSCRCHEGYSLLADGVSCTPTVEYPCGKIPILEKRNASKPQGRIVGGKVCPKGECPWQVLLLVNGAQLCGGTLINTIWVVSAAHCFDKIKNWRNLIAVLGEHDLSEHDGDEQSRRVAQVIIPSTYVPGTTNHDIALLRLHQPVVLTDHVVPLCLPERTFSERTLAFVRFSLVSGWGQLLDRGATALELMVLNVPRLMTQDCLQQSRKVGDSPNITEYMFCAGYSDGSKDSCKGDSGGPHATHYRGTWYLTGIVSWGQGCATVGHFGVYTRVSQYIEWLQKLMRSEPRPGVLLRAPFP", "length": 466, "header": "sp|P08709-1|FA7_HUMAN Isoform 1 of Coagulation factor VII OS=Homo sapiens OX=9606 GN=F7 PE=1 SV=1 CANONICAL=P08709-1" }, "isoforms": [ { "isoform_ac": "E9PH36-1", "url": "", "sequence": { "sequence": "MVSQALRLLCLLLGLQGCLAAGGSPRRPAPAPARQRVPGGAAAGLPGEGVQGGAVLLRGGPGDLQGRGEDVVSG", "length": 74, "header": "tr|E9PH36-1|FA7_HUMAN Computationally mapped isoform of Coagulation factor VII OS=Homo sapiens OX=9606 GN=F7 PE=1 SV=1 CANONICAL=P08709-1" }, "locus": { "chromosome": "13", "start_pos": 113113785, "end_pos": 113105842, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000444337.1", "url": "https://www.ensembl.org/id/ENST00000444337.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000387669.1", "url": "https://www.ensembl.org/id/ENSP00000387669.1" } ] } }, { "isoform_ac": "F5H8B0-1", "url": "", "sequence": { "sequence": "MVSQALRLLCLLLGLQGCLAADGDQCASSPCQNGGSCKDQLQSYICFCLPAFEGRNCETHKDDQLICVNENGGCEQYCSDHTGTKRSCRCHEGYSLLADGVSCTPTVEYPCGKIPILEKRNASKPQGRIVGGKVCPKGECPWQVLLLVNGAQLCGGTLINTIWVVSAAHCFDKIKNWRNLIAVLGEHDLSEHDGDEQSRRVAQVIIPSTYVPGTTNHDIALLRLHQPVVLTDHVVPLCLPERTFSERTLAFVRFSLVSGWGQLLDRGATALELMVLNVPRLMTQDCLQQSRKVGDSPNITEYMFCAGYSDGSKDSCKGDSGGPHATHYRGTWYLTGIVSWGQGCATVGHFGVYTRVSQYIEWLQKLMRSEPRPGVLLRAPFP", "length": 382, "header": "tr|F5H8B0-1|FA7_HUMAN Computationally mapped isoform of Coagulation factor VII OS=Homo sapiens OX=9606 GN=F7 PE=1 SV=2 CANONICAL=P08709-1" }, "locus": { "chromosome": "13", "start_pos": 113119005, "end_pos": 113105842, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000541084.5", "url": "https://www.ensembl.org/id/ENST00000541084.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000442051.2", "url": "https://www.ensembl.org/id/ENSP00000442051.2" } ] } }, { "isoform_ac": "P08709-1", "url": "", "sequence": { "sequence": "MVSQALRLLCLLLGLQGCLAAGGVAKASGGETRDMPWKPGPHRVFVTQEEAHGVLHRRRRANAFLEELRPGSLERECKEEQCSFEEAREIFKDAERTKLFWISYSDGDQCASSPCQNGGSCKDQLQSYICFCLPAFEGRNCETHKDDQLICVNENGGCEQYCSDHTGTKRSCRCHEGYSLLADGVSCTPTVEYPCGKIPILEKRNASKPQGRIVGGKVCPKGECPWQVLLLVNGAQLCGGTLINTIWVVSAAHCFDKIKNWRNLIAVLGEHDLSEHDGDEQSRRVAQVIIPSTYVPGTTNHDIALLRLHQPVVLTDHVVPLCLPERTFSERTLAFVRFSLVSGWGQLLDRGATALELMVLNVPRLMTQDCLQQSRKVGDSPNITEYMFCAGYSDGSKDSCKGDSGGPHATHYRGTWYLTGIVSWGQGCATVGHFGVYTRVSQYIEWLQKLMRSEPRPGVLLRAPFP", "length": 466, "header": "sp|P08709-1|FA7_HUMAN Isoform 1 of Coagulation factor VII OS=Homo sapiens OX=9606 GN=F7 PE=1 SV=1 CANONICAL=P08709-1" }, "locus": { "chromosome": "13", "start_pos": 113119005, "end_pos": 113105842, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000375581.3", "url": "https://www.ensembl.org/id/ENST00000375581.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000364731.3", "url": "https://www.ensembl.org/id/ENSP00000364731.3" } ] } }, { "isoform_ac": "P08709-2", "url": "", "sequence": { "sequence": "MVSQALRLLCLLLGLQGCLAAVFVTQEEAHGVLHRRRRANAFLEELRPGSLERECKEEQCSFEEAREIFKDAERTKLFWISYSDGDQCASSPCQNGGSCKDQLQSYICFCLPAFEGRNCETHKDDQLICVNENGGCEQYCSDHTGTKRSCRCHEGYSLLADGVSCTPTVEYPCGKIPILEKRNASKPQGRIVGGKVCPKGECPWQVLLLVNGAQLCGGTLINTIWVVSAAHCFDKIKNWRNLIAVLGEHDLSEHDGDEQSRRVAQVIIPSTYVPGTTNHDIALLRLHQPVVLTDHVVPLCLPERTFSERTLAFVRFSLVSGWGQLLDRGATALELMVLNVPRLMTQDCLQQSRKVGDSPNITEYMFCAGYSDGSKDSCKGDSGGPHATHYRGTWYLTGIVSWGQGCATVGHFGVYTRVSQYIEWLQKLMRSEPRPGVLLRAPFP", "length": 444, "header": "sp|P08709-2|FA7_HUMAN Isoform 2 of Coagulation factor VII OS=Homo sapiens OX=9606 GN=F7 PE=1 SV=1 CANONICAL=P08709-1" }, "locus": { "chromosome": "13", "start_pos": 113119005, "end_pos": 113105842, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000346342.8", "url": "https://www.ensembl.org/id/ENST00000346342.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000329546.4", "url": "https://www.ensembl.org/id/ENSP00000329546.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G15021LG", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 112, "start_aa": "Ser", "end_pos": 112, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser112", "evidence": [ { "id": "98", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/98" }, { "id": "1904059", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1904059" } ] }, { "glytoucan_ac": "G31189KC", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 112, "start_aa": "Ser", "end_pos": 112, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser112", "evidence": [ { "id": "98", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/98" }, { "id": "2511201", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/2511201" }, { "id": "1904059", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1904059" } ] }, { "glytoucan_ac": "G45127HA", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 112, "start_aa": "Ser", "end_pos": 112, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser112", "evidence": [ { "id": "98", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/98" }, { "id": "2511201", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/2511201" }, { "id": "1904059", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1904059" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "site_category": "reported", "site_seq": "S", "relation": "attached", "comment": "SER-112 ; SER-112", "start_pos": 112, "start_aa": "Ser", "end_pos": 112, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser112", "evidence": [ { "id": "P08709", "database": "UniCarbKB", "url": "" }, { "id": "1904059", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1904059" }, { "id": "18642129", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18642129" }, { "id": "P08709", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08709#ptm_processing" }, { "id": "21949356", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21949356" }, { "id": "2129367", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/2129367" }, { "id": "2511201", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/2511201" }, { "id": "1DAN", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/1DAN" }, { "id": "1FAK", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/1FAK" }, { "id": "1W0Y", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/1W0Y" }, { "id": "1W2K", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/1W2K" }, { "id": "1WQV", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/1WQV" }, { "id": "1WSS", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/1WSS" }, { "id": "1WTG", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/1WTG" }, { "id": "1WUN", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/1WUN" }, { "id": "1WV7", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/1WV7" }, { "id": "2A2Q", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2A2Q" }, { "id": "2B8O", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2B8O" }, { "id": "2ZP0", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2ZP0" }, { "id": "2ZWL", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2ZWL" }, { "id": "2ZZU", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2ZZU" }, { "id": "3TH2", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3TH2" }, { "id": "3TH3", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3TH3" }, { "id": "3TH4", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3TH4" }, { "id": "4IBL", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/4IBL" }, { "id": "4YLQ", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/4YLQ" }, { "id": "4ZMA", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/4ZMA" } ] }, { "glytoucan_ac": "G96881BQ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 120, "start_aa": "Ser", "end_pos": 120, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser120", "evidence": [ { "id": "98", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/98" }, { "id": "1904059", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1904059" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-fucosylation", "site_category": "reported", "site_seq": "S", "relation": "attached", "comment": "O-linked (Fuc) serine O-fucosylation", "start_pos": 120, "start_aa": "Ser", "end_pos": 120, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser120", "evidence": [ { "id": "P08709", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08709#ptm_processing" }, { "id": "9023546", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9023546" }, { "id": "1904059", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1904059" }, { "id": "1DAN", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/1DAN" }, { "id": "1FAK", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/1FAK" }, { "id": "1W0Y", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/1W0Y" }, { "id": "1W2K", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/1W2K" }, { "id": "1WQV", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/1WQV" }, { "id": "1WSS", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/1WSS" }, { "id": "1WTG", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/1WTG" }, { "id": "1WUN", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/1WUN" }, { "id": "1WV7", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/1WV7" }, { "id": "2A2Q", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2A2Q" }, { "id": "2B8O", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2B8O" }, { "id": "2ZP0", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2ZP0" }, { "id": "2ZWL", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2ZWL" }, { "id": "2ZZU", "database": "RCSB PDB", "url": 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Layne MD, Hsieh CM, Yet SF, Perrella MA, Lee ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-1368108", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1368108" } ], "reference": [ { "type": "PubMed", "id": "11018023", "url": "https://glygen.org/publication/PubMed/11018023" } ] }, { "title": "Two novel factor VII gene mutations in a Chinese family with factor VII deficiency.", "journal": "British journal of haematology", "date": "2000", "authors": "Au WY, Lam CC, Chan EC, Kwong YL", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "reference": [ { "type": "PubMed", "id": "11091194", "url": "https://glygen.org/publication/PubMed/11091194" } ] }, { "title": "Molecular analysis of the genotype-phenotype relationship in factor VII deficiency.", "journal": "Human genetics", "date": "2000", "authors": "Millar DS, Kemball-Cook G, McVey JH, Tuddenham EG, Mumford AD, Attock GB, Reverter JC, Lanir N, Parapia LA, Reynaud J, Meili E, von Felton A, Martinowitz U, Prangnell DR, Krawczak M, Cooper DN", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "reference": [ { "type": "PubMed", "id": "11129332", "url": "https://glygen.org/publication/PubMed/11129332" } ] }, { "title": "Molecular cloning and characterization of DEC2, a new member of basic helix-loop-helix proteins.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Fujimoto K, Shen M, Noshiro M, Matsubara K, Shingu S, Honda K, Yoshida E, Suardita K, Matsuda Y, Kato Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1368108", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1368108" } ], "reference": [ { "type": "PubMed", "id": "11162494", "url": "https://glygen.org/publication/PubMed/11162494" } ] }, { "title": "Genomic organization of the gene coding for human pre-B-cell colony enhancing factor and expression in human fetal membranes.", "journal": "Journal of molecular endocrinology", "date": "2001", "authors": "Ognjanovic S, Bao S, Yamamoto SY, Garibay-Tupas J, Samal B, Bryant-Greenwood GD", "evidence": [ { "database": "Reactome", "id": "R-HSA-1368108", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1368108" } ], "reference": [ { "type": "PubMed", "id": "11241162", "url": "https://glygen.org/publication/PubMed/11241162" } ] }, { "title": "Three ways to make a vesicle.", "journal": "Nature reviews. 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Thinking outside the E-Box.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Munoz E, Brewer M, Baler R", "evidence": [ { "database": "Reactome", "id": "R-HSA-1368108", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1368108" } ], "reference": [ { "type": "PubMed", "id": "12130638", "url": "https://glygen.org/publication/PubMed/12130638" } ] }, { "title": "The 4G5G polymorphism in the gene for PAI-1 and the circadian oscillation of plasma PAI-1.", "journal": "Blood", "date": "2003", "authors": "van der Bom JG, Bots ML, Haverkate F, Kluft C, Grobbee DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1368108", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1368108" } ], "reference": [ { "type": "PubMed", "id": "12406875", "url": "https://glygen.org/publication/PubMed/12406875" } ] }, { "title": "Two double heterozygous mutations in the F7 gene show different manifestations.", "journal": "British journal of haematology", "date": "2002", "authors": "Nagaizumi K, Inaba H, Suzuki T, Hatta Y, Hagiwara T, Amano K, Arai M, Fukutake K", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "reference": [ { "type": "PubMed", "id": "12472587", "url": "https://glygen.org/publication/PubMed/12472587" } ] }, { "title": "Regulation of the PAI-1 promoter by circadian clock components: differential activation by BMAL1 and BMAL2.", "journal": "Journal of molecular and cellular cardiology", "date": "2003", "authors": "Schoenhard JA, Smith LH, Painter CA, Eren M, Johnson CH, Vaughan DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1368108", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1368108" } ], "reference": [ { "type": "PubMed", "id": "12738229", "url": "https://glygen.org/publication/PubMed/12738229" } ] }, { "title": "A novel autofeedback loop of Dec1 transcription involved in circadian rhythm regulation.", "journal": "Biochemical and biophysical research 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Hered.", "date": "1994", "authors": "Dewald G, N\u00f6then M M, R\u00fcther K", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "reference": [ { "type": "PubMed", "id": "7860081", "url": "https://glygen.org/publication/PubMed/7860081" } ] }, { "title": "Factor VII Mie: homozygous asymptomatic type I deficiency caused by an amino acid substitution of His (CAC) for Arg(247) (CGC) in the catalytic domain.", "journal": "Thrombosis and haemostasis", "date": "1994", "authors": "Ohiwa M, Hayashi T, Wada H, Minamikawa K, Shirakawa S, Suzuki K", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "reference": [ { "type": "PubMed", "id": "7974346", "url": "https://glygen.org/publication/PubMed/7974346" } ] }, { "title": "Human and rat peroxisome proliferator activated receptors (PPARs) demonstrate similar tissue distribution but different responsiveness to PPAR activators.", "journal": "The Journal of steroid biochemistry and molecular biology", "date": "1994", "authors": "Mukherjee R, Jow L, Noonan D, McDonnell DP", "evidence": [ { "database": "Reactome", "id": "R-HSA-1368108", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1368108" } ], "reference": [ { "type": "PubMed", "id": "7981125", "url": "https://glygen.org/publication/PubMed/7981125" } ] }, { "title": "Topologically equivalent mutations causing dysfunctional coagulation factors VII (294Ala-->Val) and X (334Ser-->Pro).", "journal": "Human molecular genetics", "date": "1994", "authors": "Bernardi F, Castaman G, Redaelli R, Pinotti M, Lunghi B, Rodeghiero F, Marchetti G", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "reference": [ { "type": "PubMed", "id": "7981691", "url": "https://glygen.org/publication/PubMed/7981691" } ] }, { "title": "Molecular defects in CRM+ factor VII deficiencies: modelling of missense mutations in the catalytic domain of FVII.", "journal": "British journal of haematology", "date": "1994", "authors": "Bernardi F, Liney DL, Patracchini P, Gemmati D, Legnani C, Arcieri P, Pinotti M, Redaelli R, Ballerini G, Pemberton S, et al.", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "reference": [ { "type": "PubMed", "id": "8043443", "url": "https://glygen.org/publication/PubMed/8043443" } ] }, { "title": "Severe factor VII deficiency caused by mutations abolishing the cleavage site for activation and altering binding to tissue factor.", "journal": "Blood", "date": "1994", "authors": "Chaing S, Clarke B, Sridhara S, Chu K, Friedman P, VanDusen W, Roberts HR, Blajchman M, Monroe DM, High KA", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "reference": [ { "type": "PubMed", "id": "8204879", "url": "https://glygen.org/publication/PubMed/8204879" } ] }, { "title": "Detection of missense mutations by single-strand conformational polymorphism (SSCP) analysis in five dysfunctional variants of coagulation factor VII.", "journal": "Human molecular genetics", "date": "1993", "authors": "Takamiya O, Kemball-Cook G, Martin DM, Cooper DN, von Felten A, Meili E, Hann I, Prangnell DR, Lumley H, Tuddenham EG, et al.", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "reference": [ { "type": "PubMed", "id": "8242057", "url": "https://glygen.org/publication/PubMed/8242057" } ] }, { "title": "The protein encoded by a growth arrest-specific gene (gas6) is a new member of the vitamin K-dependent proteins related to protein S, a negative coregulator in the blood coagulation cascade.", "journal": "Molecular and cellular biology", "date": "1993", "authors": "Manfioletti G, Brancolini C, Avanzi G, Schneider C", "evidence": [ { "database": "Reactome", "id": "R-HSA-159740", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032571", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "pmid": "" }, { "name": "positive regulation of positive chemotaxis", "id": "GO:0050927", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050927", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "pmid": "" }, { "name": "response to cholesterol", "id": "GO:0070723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070723", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "pmid": "" }, { "name": "response to carbon dioxide", "id": "GO:0010037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010037", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "pmid": "" }, { "name": "positive regulation of platelet-derived growth factor receptor signaling pathway", "id": "GO:0010641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010641", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "pmid": "" }, { "name": "response to genistein", "id": "GO:0033595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033595", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "pmid": "" }, { "name": "response to Thyroid stimulating hormone", "id": "GO:1904400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904400", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "pmid": "" }, { "name": "response to 2,3,7,8-tetrachlorodibenzodioxine", "id": "GO:1904612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904612", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "pmid": "" }, { "name": "response to astaxanthin", "id": "GO:1905217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905217", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "pmid": "" }, { "name": "response to thyrotropin-releasing hormone", "id": "GO:1905225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905225", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "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": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "pmid": "" }, { "name": "serine-type peptidase activity", "id": "GO:0008236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008236", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 8, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "pmid": "" }, { "name": "Golgi lumen", "id": "GO:0005796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005796", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "pmid": "" }, { "name": "collagen-containing extracellular matrix", "id": "GO:0062023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "pmid": "" }, { "name": "serine-type peptidase complex", "id": "GO:1905286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905286", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "coagulation factor VII N-glycosylated 1 (human)", "definition": "A coagulation factor VII (human) that has been N-glycosylated at the residue equivalent to Asn-205 of the amino acid sequence represented by UniProtKB:P08709-1, in which the glycan structure is represented by GlyTouCan:G06215XQ. Example: UniProtKB:P08709-1, Asn-205, MOD:00160~GNO:G06215XQ. [PRO:DNx, PMID:18642129]", "evidence": [ { "id": "PR:000054563", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054563" } ] }, { "name": "coagulation factor VII N-glycosylated 2 (human)", "definition": "A coagulation factor VII (human) that has been N-glycosylated at the residue equivalent to Asn-205 of the amino acid sequence represented by UniProtKB:P08709-1, in which the glycan structure is represented by GlyTouCan:G08146BT. Example: UniProtKB:P08709-1, Asn-205, MOD:00160~GNO:G08146BT. [PRO:DNx, PMID:18642129]", "evidence": [ { "id": "PR:000054564", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054564" } ] }, { "name": "coagulation factor VII N-glycosylated 3 (human)", "definition": "A coagulation factor VII (human) that has been N-glycosylated at the residue equivalent to Asn-205 of the amino acid sequence represented by UniProtKB:P08709-1, in which the glycan structure is represented by GlyTouCan:G23695IQ. Example: UniProtKB:P08709-1, Asn-205, MOD:00160~GNO:G23695IQ. [PRO:DNx, PMID:18642129]", "evidence": [ { "id": "PR:000054565", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054565" } ] }, { "name": "coagulation factor VII N-glycosylated 4 (human)", "definition": "A coagulation factor VII (human) that has been N-glycosylated at the residue equivalent to Asn-205 of the amino acid sequence represented by UniProtKB:P08709-1, in which the glycan structure is represented by GlyTouCan:G35061TJ. Example: UniProtKB:P08709-1, Asn-205, MOD:00160~GNO:G35061TJ. [PRO:DNx, PMID:18642129]", "evidence": [ { "id": "PR:000054566", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054566" } ] }, { "name": "coagulation factor VII N-glycosylated 5 (human)", "definition": "A coagulation factor VII (human) that has been N-glycosylated at the residue equivalent to Asn-205 of the amino acid sequence represented by UniProtKB:P08709-1, in which the glycan structure is represented by GlyTouCan:G42358LZ. Example: UniProtKB:P08709-1, Asn-205, MOD:00160~GNO:G42358LZ. [PRO:DNx, PMID:18642129]", "evidence": [ { "id": "PR:000054567", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054567" } ] }, { "name": "coagulation factor VII N-glycosylated 6 (human)", "definition": "A coagulation factor VII (human) that has been N-glycosylated at the residue equivalent to Asn-205 of the amino acid sequence represented by UniProtKB:P08709-1, in which the glycan structure is represented by GlyTouCan:G50739NP. Example: UniProtKB:P08709-1, Asn-205, MOD:00160~GNO:G50739NP. [PRO:DNx, PMID:18642129]", "evidence": [ { "id": "PR:000054568", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054568" } ] }, { "name": "coagulation factor VII N-glycosylated 7 (human)", "definition": "A coagulation factor VII (human) that has been N-glycosylated at the residue equivalent to Asn-205 of the amino acid sequence represented by UniProtKB:P08709-1, in which the glycan structure is represented by GlyTouCan:G71527NE. Example: UniProtKB:P08709-1, Asn-205, MOD:00160~GNO:G71527NE. [PRO:DNx, PMID:18642129]", "evidence": [ { "id": "PR:000054569", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054569" } ] }, { "name": "coagulation factor VII N-glycosylated 8 (human)", "definition": "A coagulation factor VII (human) that has been N-glycosylated at the residue equivalent to Asn-205 of the amino acid sequence represented by UniProtKB:P08709-1, in which the glycan structure is represented by GlyTouCan:G75494EI. Example: UniProtKB:P08709-1, Asn-205, MOD:00160~GNO:G75494EI. [PRO:DNx, PMID:18642129]", "evidence": [ { "id": "PR:000054570", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054570" } ] }, { "name": "coagulation factor VII N-glycosylated 9 (human)", "definition": "A coagulation factor VII (human) that has been N-glycosylated at the residue equivalent to Asn-205 of the amino acid sequence represented by UniProtKB:P08709-1, in which the glycan structure is represented by GlyTouCan:G91130VE. Example: UniProtKB:P08709-1, Asn-205, MOD:00160~GNO:G91130VE. [PRO:DNx, PMID:18642129]", "evidence": [ { "id": "PR:000054571", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054571" } ] }, { "name": "coagulation factor VII N-glycosylated 10 (human)", "definition": "A coagulation factor VII (human) that has been N-glycosylated at the residue equivalent to Asn-382 of the amino acid sequence represented by UniProtKB:P08709-1, in which the glycan structure is represented by GlyTouCan:G08146BT. Example: UniProtKB:P08709-1, Asn-382, MOD:00160~GNO:G08146BT. [PRO:DNx, PMID:18642129]", "evidence": [ { "id": "PR:000054572", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054572" } ] }, { "name": "coagulation factor VII N-glycosylated 11 (human)", "definition": "A coagulation factor VII (human) that has been N-glycosylated at the residue equivalent to Asn-382 of the amino acid sequence represented by UniProtKB:P08709-1, in which the glycan structure is represented by GlyTouCan:G42358LZ. Example: UniProtKB:P08709-1, Asn-382, MOD:00160~GNO:G42358LZ. [PRO:DNx, PMID:18642129]", "evidence": [ { "id": "PR:000054573", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054573" } ] }, { "name": "coagulation factor VII N-glycosylated 12 (human)", "definition": "A coagulation factor VII (human) that has been N-glycosylated at the residue equivalent to Asn-382 of the amino acid sequence represented by UniProtKB:P08709-1, in which the glycan structure is represented by GlyTouCan:G50739NP. Example: UniProtKB:P08709-1, Asn-382, MOD:00160~GNO:G50739NP. [PRO:DNx, PMID:18642129]", "evidence": [ { "id": "PR:000054574", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054574" } ] }, { "name": "coagulation factor VII N-glycosylated 13 (human)", "definition": "A coagulation factor VII (human) that has been N-glycosylated at the residue equivalent to Asn-382 of the amino acid sequence represented by UniProtKB:P08709-1, in which the glycan structure is represented by GlyTouCan:G71527NE. Example: UniProtKB:P08709-1, Asn-382, MOD:00160~GNO:G71527NE. [PRO:DNx, PMID:18642129]", "evidence": [ { "id": "PR:000054575", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054575" } ] }, { "name": "coagulation factor VII N-glycosylated 14 (human)", "definition": "A coagulation factor VII (human) that has been N-glycosylated at the residue equivalent to Asn-382 of the amino acid sequence represented by UniProtKB:P08709-1, in which the glycan structure is represented by GlyTouCan:G75494EI. Example: UniProtKB:P08709-1, Asn-382, MOD:00160~GNO:G75494EI. [PRO:DNx, PMID:18642129]", "evidence": [ { "id": "PR:000054576", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054576" } ] }, { "name": "coagulation factor VII N-glycosylated 15 (human)", "definition": "A coagulation factor VII (human) that has been N-glycosylated at the residue equivalent to Asn-382 of the amino acid sequence represented by UniProtKB:P08709-1, in which the glycan structure is represented by GlyTouCan:G91130VE. Example: UniProtKB:P08709-1, Asn-382, MOD:00160~GNO:G91130VE. [PRO:DNx, PMID:18642129]", "evidence": [ { "id": "PR:000054577", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054577" } ] } ], "site_annotation": [ { "start_pos": 205, "end_pos": 207, "annotation": "n_glycosylation_sequon" }, { "start_pos": 382, "end_pos": 384, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "O- and N-glycosylated. N-glycosylation at Asn-205 occurs cotranslationally and is mediated by STT3A-containing complexes, while glycosylation at Asn-382 is post-translational and is mediated STT3B-containing complexes before folding. O-fucosylated by POFUT1 on a conserved serine or threonine residue found in the consensus sequence C2-X(4,5)-[S/T]-C3 of EGF domains, where C2 and C3 are the second and third conserved cysteines.", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" }, { "database": "PubMed", "id": "21949356", "url": "https://glygen.org/publication/PubMed/21949356" }, { "database": "PubMed", "id": "19167329", "url": "https://glygen.org/publication/PubMed/19167329" }, { "database": "PubMed", "id": "9023546", "url": "https://glygen.org/publication/PubMed/9023546" }, { "database": "PubMed", "id": "3264725", "url": "https://glygen.org/publication/PubMed/3264725" }, { "database": "PubMed", "id": "1904059", "url": "https://glygen.org/publication/PubMed/1904059" } ] }, { "annotation": "The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.", "evidence": [ { "database": "UniProtKB", "id": "P08709", "url": "https://www.uniprot.org/uniprot/P08709" }, { "database": "PubMed", "id": "3264725", "url": "https://glygen.org/publication/PubMed/3264725" } ] } ], "interactions": [], "reactions": [ { "id": "R-HSA-140736", "name": "factor X -> factor Xa + factor X activation peptide (TF:F7a catalyst)", "equation": "", "summary": "Factor VIIa, bound to tissue factor at the endothelial cell surface (the \\extrinsic tenase complex\\), catalyzes the formation of activated factor X with high efficiency. The amino terminal part of the heavy chain of factor X, the factor X activation peptide, is released. (This peptide has no known function.)", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [ "R-HSA-140739" ], "output_participant_list": [ "R-HSA-140689", "R-HSA-140785" ], "enzyme_list": [ "P00742-1", "P08709-1" ], "evidence": [ { "id": "R-HSA-140736", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140736" } ] }, { "id": "R-HSA-140748", "name": "tissue factor (TF) + activated factor VII (F7a) -> TF:F7a complex", "equation": "", "summary": "Tissue factor exposed at the endothelial cell surface forms a Ca2+-dependent complex with factor VIIa (FVIIa, activated FVII) from the plasma (Butenas S et al. 1994; Sabharwal AK et al. 1995; Banner DW et al. 1996; Bajaj SP et al. 2006; Persson E & Olsen OH 2011; Madsen JJ et al. 2015). FVIIa is allosterically activated by TF, which increases the amidolytic activity of FVIIa several-fold by restructuring the active site region (Butenas S et al. 1994; Higashi S et al. 1996; Sorensen AB et al. 2019). FVIIa, bound to TF at the endothelial cell surface, catalyzes the formation of activated factor IXa (FIXa) and FXa with high efficiency leading to thrombin generation and fibrin formation (Vadivel K & Bajaj SP 2012).", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [ "R-HSA-140704", "R-HSA-140751" ], "output_participant_list": [ "R-HSA-140734" ], "enzyme_list": [ "P08709-1" ], "evidence": [ { "id": "R-HSA-140748", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140748" } ] }, { "id": "R-HSA-140769", "name": "factor VII -> factor VIIa", "equation": "", "summary": "Factor Xa catalyzes the activation of factor VII from plasma.", "cellular_location": "extracellular region", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00742-1", "P08709-1" ], "evidence": [ { "id": "R-HSA-140769", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140769" } ] }, { "id": "R-HSA-140777", "name": "factor X -> factor Xa + factor X activation peptide (TF:F7 catalyst)", "equation": "", "summary": "Factor VII, bound to tissue factor at the endothelial cell surface, catalyzes the activation of factor X from plasma with moderate efficiency. The amino terminal part of the heavy chain of factor X, the factor X activation peptide, is released. (This peptide has no known function.)", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00742-1", "P08709-1" ], "evidence": [ { "id": "R-HSA-140777", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140777" } ] }, { "id": "R-HSA-140783", "name": "tissue factor (TF) + factor VII (F7) -> TF:F7 complex", "equation": "", "summary": "Coagulation factor VII circulates in plasma mostly in the zymogen form (FVII); about 1% of plasma FVII is found in the active form (FVIIa) (Morrissey JH et al. 1993). Initiation of coagulation begins by exposure of blood (which contains both zymogen FVII and activated FVIIa) to tissue factor (TF) in the extravascular space at an injury site and formation of the Ca2+-dependent complex between TF and plasma FVII/FVIIa (Kelley RF et al. 2004; Ruf W et al. 1991). The TF:FVII zymogen complex has low but measurable proteolytic activity on factor X, suggesting that this complex initiates TF-dependent clotting through a minimal generation of factor Xa, which in turn catalyzes the activation of FVII from plasma. (Rao LV et al. 1986). As factor VIIa accumulates, TFr:FVIIa complexes also form, accelerating the process (Nemerson 1988). Formation of the TF:FVIIa complex greatly increases the enzymatic activity of FVIIa via allosteric interactions between TF and FVIIa, as revealed by a 20- to 100-fold increase in the rate of amidolysis of small, chromogenic peptidyl substrates (Broze GJ Jr & Majerus PW.1980; Butenas S et al. 1994; Higashi S et al. 1996). A second model, building on the observation that normal plasma contains low levels of activated FVIIa constitutively, suggests that complexes with FVIIa form immediately at the onset of clotting (Rapaport and Rao 1995). The two models are not mutually exclusive, and in any event, the central roles of TF and FVIIa in generating an initial supply of factors IXa and Xa, and the self-limiting nature of the process due to the action of TFPI, are all well-established.", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P08709-1" ], "evidence": [ { "id": "R-HSA-140783", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140783" } ] }, { "id": "R-HSA-140823", "name": "factor IX -> factor IXa + factor IX activation peptide (TF:F7a catalyst)", "equation": "", "summary": "Conversion of factor IX (FIX) to FIXa requires proteolytic cleavages after Arg191 and Arg226, releasing an activation peptide (Ala192-Arg226) (Geng Y et al. 2012; Vadivel K & Bajaj SP 2012). This calcium-dependent reaction is catalyzed by factor VIIa (FVIIa) in the presence of tissue factor (TF) and phosphatidylserine-rich phospholipid (Osterud B, Rapaport SI 1977; Banner DW et al. 1996; Bajaj SP et al. 2006). In this reaction, FVIIa and FIX anchor to the phospholipid bilayer through their Gla domains for optimal rates of FIXa formation (Vadivel K & Bajaj SP 2012). Further, the N-terminal Gla and epidermal growth factor-like (EGF1) domains of FIX represent the primary recognition determinants in binding to FVIIa & TF and formation of the ternary complex (Zhong D et al. 2002; Vadivel K & Bajaj SP 2012). In the formed ternary complex, the scissile peptide bond sequence in FIX or FX then approaches the active site cleft in FVIIa and induces the formation of the oxyanion hole for efficient proteolysis (Vadivel K & Bajaj SP 2012). FVIIa, bound to TF at the endothelial cell surface, cleaves FIX first after Arg191, forming the inactive intermediate which is released from FVIIa. The intermediate form of FIX must rebind to the protease to be cleaved after Arg226 to form an activated FIXa. As the second cleavage is rate-limiting, the inactive intermediate accumulates during FIX activation by FVIIa. The proteolytic cleavage of FIX results in a two-chain protein consisting of a light chain (Gla-EGF1-EGF2 domains) and a heavy chain (protease domain with the catalytic center) held together by a single disulfide bond (Yoshitake S et al. 1985). The released activation peptide FIX (192-226) has no known function.", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [ "R-HSA-140886" ], "output_participant_list": [ "R-HSA-140896", "R-HSA-140897" ], "enzyme_list": [ "P00740-1", "P08709-1" ], "evidence": [ { "id": "R-HSA-140823", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140823" } ] }, { "id": "R-HSA-140825", "name": "TFPI + TF:F7a + factor Xa -> TFPI:TF:F7a:factor Xa", "equation": "", "summary": "TFPI binds to the factor VIIa:TF complex and to factor Xa at the endothelial surface, forming a stable heterotetrameric complex in which factor VIIa is catalytically inactive.", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00742-1", "P08709-1" ], "evidence": [ { "id": "R-HSA-140825", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140825" } ] }, { "id": "R-HSA-159761", "name": "GGCX gamma-carboxylates F7(21-466) (pro-factor VII)", "equation": "", "summary": "GGCX (gamma glutamyl carboxylase) in the endoplasmic reticulum gamma-carboxylates ten glutamate residues on F7(21-466) (pro-factor VII). MK4 (vitamin K hydroquinone) is oxidized to MK4 epoxide in the process (Berkner 2000; Furie et al. 1999; Stenina et al. 2001; Morris et al. 1995).", "cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [ "R-HSA-159722" ], "enzyme_list": [ "P08709-1", "P38435-1" ], "evidence": [ { "id": "R-HSA-159761", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159761" } ] }, { "id": "R-HSA-159783", "name": "Gamma-carboxy pro-factor VII transport from the endoplasmic reticulum to the Golgi apparatus", "equation": "", "summary": "Gamma-carboxylated pro-factor VII is transported from the endoplasmic reticulum to the Golgi apparatus (Kirchhausen 2000).", "cellular_location": "COPII-coated ER to Golgi transport vesicle, Golgi lumen, endoplasmic reticulum lumen", "input_participant_list": [], "output_participant_list": [ "R-HSA-159767" ], "enzyme_list": [ "P08709-1" ], "evidence": [ { "id": "R-HSA-159783", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159783" } ] }, { "id": "R-HSA-159868", "name": "Furin cleaves pro-factor VII to factor VII", "equation": "", "summary": "Furin, associated with the Golgi membrane, cleaves pro-factor VII to form mature, gamma-carboxylated factor VII (Wasley et al. 1993).", "cellular_location": "Golgi lumen, Golgi membrane", "input_participant_list": [], "output_participant_list": [ "R-HSA-159808", "R-HSA-159847" ], "enzyme_list": [ "P09958-1", "P08709-1" ], "evidence": [ { "id": "R-HSA-159868", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159868" } ] }, { "id": "R-HSA-549428", "name": "Expression of FACTOR VII (F7)", "equation": "", "summary": "Activation of FACTOR VII expression by phosphorylated BMAL1:CLOCK (ARNTL:CLOCK) is inferred from mouse. 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