{ "uniprot_canonical_ac": "P00451-1", "uniprot_ac": "P00451", "uniprot_id": "FA8_HUMAN", "mass": { "chemical_mass": 267009.0, "monoisotopic_mass": 267009.0 }, "refseq": { "ac": "NP_000123", "name": "coagulation factor VIII isoform a preproprotein", "summary": "This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000123" }, "gene_names": [ { "name": "F8", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P00451", "id": "P00451" }, { "name": "AHF; DXS1253E; F8B; F8C; FVIII; HEMA; THPH13", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000123", "id": "NP_000123" }, { "name": "F8C", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P00451", "id": "P00451" }, { "name": "F8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000123", "id": "NP_000123" } ], "protein_names": [ { "name": "Coagulation factor VIII", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P00451" }, { "name": "AHF", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00451" }, { "name": "Antihemophilic factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00451" }, { "name": "Procoagulant component", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00451" }, { "name": "coagulation factor VIII isoform a preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000123", "id": "NP_000123" }, { "name": "factor VIII F8B; coagulation factor VIIIc; antihemophilic factor; coagulation factor VIII, procoagulant component; coagulation factor VIII C2 domain; coagulation factor VIII A1 domain", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000123", "id": "NP_000123" } ], "function": [ { "annotation": "An intronic RNA element modulates Factor VIII exon-16 splicing.", "evidence": [ { "database": "RefSeq", "id": "NP_000123", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000123" }, { "database": "PubMed", "id": "37962303", "url": "https://glygen.org/publication/PubMed/37962303" } ] }, { "annotation": "Coagulation factor VIII regulates von Willebrand factor homeostasis invivo.", "evidence": [ { "database": "RefSeq", "id": "NP_000123", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000123" }, { "database": "PubMed", "id": "37726033", "url": "https://glygen.org/publication/PubMed/37726033" } ] }, { "annotation": "Factor VIII mutated with Lys1813Ala within the factor IXa-binding region enhances intrinsic coagulation potential.", "evidence": [ { "database": "RefSeq", "id": "NP_000123", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000123" }, { "database": "PubMed", "id": "36322904", "url": "https://glygen.org/publication/PubMed/36322904" } ] }, { "annotation": "Factor VIII, along with calcium and phospholipid, acts as a cofactor for F9/factor IXa when it converts F10/factor X to the activated form, factor Xa.", "evidence": [ { "database": "UniProtKB", "id": "P00451", "url": "https://www.uniprot.org/uniprot/P00451#function" } ] }, { "annotation": "Mechano-covalent protection of coagulation factor VIII by von Willebrand factor.", "evidence": [ { "database": "RefSeq", "id": "NP_000123", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000123" }, { "database": "PubMed", "id": "36240294", "url": "https://glygen.org/publication/PubMed/36240294" } ] }, { "annotation": "The role of proteolytic cleavage at Arg[336] and Arg[372] of the A1 domain in factor VIIa/tissue factor-catalyzed reactions of B domain-deleted factor VIII.", "evidence": [ { "database": "RefSeq", "id": "NP_000123", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000123" }, { "database": "PubMed", "id": "37925034", "url": "https://glygen.org/publication/PubMed/37925034" } ] }, { "annotation": "This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000123", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000123" } ] } ], "disease": [ { "disease_id": "DOID:0111823", "recommended_name": { "id": "DOID:0111823", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111823", "name": "autosomal hemophilia A", "description": "A blood coagulation disease characterized by autosomal inheritence of a Factor VIII deficiency." }, "synonyms": [ { "id": "DOID:0111823", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111823", "name": "autosomal Factor VIII deficiency", "description": "" }, { "id": "MONDO:0010602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010602", "name": "hemophilia A", "description": "The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency." }, { "id": "MONDO:0010602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010602", "name": "Subhemophilia", "description": "" }, { "id": "MONDO:0010602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010602", "name": "congenital factor VIII disorder", "description": "" }, { "id": "MONDO:0010602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010602", "name": "factor VIII deficiency", "description": "" }, { "id": "MONDO:0010602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010602", "name": "haemophilia a, X-linked recessive", "description": "" }, { "id": "MONDO:0010602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010602", "name": "haemophilia type A", "description": "" }, { "id": "MONDO:0010602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010602", "name": "haemophilia type a", "description": "" }, { "id": "MONDO:0010602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010602", "name": "hemophilia A", "description": "" }, { "id": "MONDO:0010602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010602", "name": "hemophilia a, X-linked recessive", "description": "" }, { "id": "MONDO:0010602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010602", "name": "hemophilia type A", "description": "" }, { "id": "MONDO:0010602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010602", "name": "hemophilia type a", "description": "" }, { "id": "MONDO:0010602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010602", "name": "hereditary Factor VIII deficiency", "description": "" }, { "id": "MONDO:0010602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010602", "name": "hereditary Factor VIII deficiency disease", "description": "" }, { "id": "MONDO:0010602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010602", "name": "HEMA", "description": "" }, { "id": "MONDO:0010602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010602", "name": "Haemophilia A", "description": "" }, { "id": "MONDO:0010602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010602", "name": "autosomal haemophilia a", "description": "" }, { "id": "MONDO:0010602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010602", "name": "autosomal hemophilia a", "description": "" }, { "id": "MONDO:0010602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010602", "name": "classic haemophilia", "description": "" }, { "id": "MONDO:0010602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010602", "name": "classic hemophilia", "description": "" }, { "id": "MONDO:0010602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010602", "name": "classical haemophilia", "description": "" }, { "id": "MONDO:0010602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010602", "name": "classical hemophilia", "description": "" }, { "id": "MONDO:0010602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010602", "name": "factor 8 deficiency", "description": "" }, { "id": "MONDO:0010602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010602", "name": "haemophilia A, congenital", "description": "" }, { "id": "MONDO:0010602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010602", "name": "hem A", "description": "" }, { "id": "MONDO:0010602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010602", "name": "hemophilia A, congenital", "description": "" }, { "id": "MONDO:0010602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010602", "name": "hemophilia, classic", "description": "" } ], "evidence": [ { "id": "134500", "database": "MIM", "url": "https://www.omim.org/entry/134500" } ] }, { "disease_id": "DOID:12134", "recommended_name": { "id": "DOID:12134", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12134", "name": "factor VIII deficiency", "description": "A blood coagulation disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged." }, "synonyms": [ { "id": "DOID:12134", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12134", "name": "Congenital factor VIII disorder", "description": "" }, { "id": "DOID:12134", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12134", "name": "Hemophilia A", "description": "" }, { "id": "DOID:12134", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12134", "name": "Subhemophilia", 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}, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P00451", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00451" } ], "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", 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"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", 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"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": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P00451", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00451" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "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 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"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": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P00451", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00451" } ], "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. 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"database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3HNB", "url": "https://www.rcsb.org/structure/3HNB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3HNY", "url": "https://www.rcsb.org/structure/3HNY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3HOB", "url": "https://www.rcsb.org/structure/3HOB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3J2Q", "url": "https://www.rcsb.org/structure/3J2Q", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3J2S", "url": "https://www.rcsb.org/structure/3J2S", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4BDV", "url": "https://www.rcsb.org/structure/4BDV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4KI5", "url": "https://www.rcsb.org/structure/4KI5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4PT6", "url": "https://www.rcsb.org/structure/4PT6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4XZU", "url": "https://www.rcsb.org/structure/4XZU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5K8D", "url": "https://www.rcsb.org/structure/5K8D", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6MF0", "url": "https://www.rcsb.org/structure/6MF0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6MF2", "url": "https://www.rcsb.org/structure/6MF2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7K66", "url": "https://www.rcsb.org/structure/7K66", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7KBT", "url": "https://www.rcsb.org/structure/7KBT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7KWO", "url": "https://www.rcsb.org/structure/7KWO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8G6I", "url": "https://www.rcsb.org/structure/8G6I", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8TY1", "url": "https://www.rcsb.org/structure/8TY1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00754", "url": "http://pfam.xfam.org/family/PF00754", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07731", "url": "http://pfam.xfam.org/family/PF07731", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07732", "url": "http://pfam.xfam.org/family/PF07732", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P00451", "url": "https://pharos.nih.gov/targets/P00451", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000051024", "url": "https://proconsortium.org/app/entry/PR:000051024", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000051025", "url": "https://proconsortium.org/app/entry/PR:000051025", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000051026", "url": "https://proconsortium.org/app/entry/PR:000051026", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_P00451", "url": "http://purl.obolibrary.org/obo/PR_P00451", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-163841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163841", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9672383", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9672383", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9672387", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9672387", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9672391", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9672391", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9672393", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9672393", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9672395", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9672395", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9672396", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9672396", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9672397", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9672397", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9673202", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9673202", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9674519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9674519", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000123", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000123", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P00451", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A2R8Y707", "url": "https://www.uniprot.org/uniprot/A0A2R8Y707", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y707-1", "url": "https://www.uniprot.org/uniprot/A0A2R8Y707-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y7J7", "url": "https://www.uniprot.org/uniprot/A0A2R8Y7J7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y7J7-1", "url": "https://www.uniprot.org/uniprot/A0A2R8Y7J7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B1B0G8", "url": "https://www.uniprot.org/uniprot/B1B0G8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B1B0G8-1", "url": "https://www.uniprot.org/uniprot/B1B0G8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B1B0G9", "url": "https://www.uniprot.org/uniprot/B1B0G9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B1B0G9-1", "url": "https://www.uniprot.org/uniprot/B1B0G9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P00451", "url": "https://www.uniprot.org/uniprot/P00451", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P00451-1", "url": "https://www.uniprot.org/uniprot/P00451-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P00451-2", "url": "https://www.uniprot.org/uniprot/P00451-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MQIELSTCFFLCLLRFCFSATRRYYLGAVELSWDYMQSDLGELPVDARFPPRVPKSFPFNTSVVYKKTLFVEFTDHLFNIAKPRPPWMGLLGPTIQAEVYDTVVITLKNMASHPVSLHAVGVSYWKASEGAEYDDQTSQREKEDDKVFPGGSHTYVWQVLKENGPMASDPLCLTYSYLSHVDLVKDLNSGLIGALLVCREGSLAKEKTQTLHKFILLFAVFDEGKSWHSETKNSLMQDRDAASARAWPKMHTVNGYVNRSLPGLIGCHRKSVYWHVIGMGTTPEVHSIFLEGHTFLVRNHRQASLEISPITFLTAQTLLMDLGQFLLFCHISSHQHDGMEAYVKVDSCPEEPQLRMKNNEEAEDYDDDLTDSEMDVVRFDDDNSPSFIQIRSVAKKHPKTWVHYIAAEEEDWDYAPLVLAPDDRSYKSQYLNNGPQRIGRKYKKVRFMAYTDETFKTREAIQHESGILGPLLYGEVGDTLLIIFKNQASRPYNIYPHGITDVRPLYSRRLPKGVKHLKDFPILPGEIFKYKWTVTVEDGPTKSDPRCLTRYYSSFVNMERDLASGLIGPLLICYKESVDQRGNQIMSDKRNVILFSVFDENRSWYLTENIQRFLPNPAGVQLEDPEFQASNIMHSINGYVFDSLQLSVCLHEVAYWYILSIGAQTDFLSVFFSGYTFKHKMVYEDTLTLFPFSGETVFMSMENPGLWILGCHNSDFRNRGMTALLKVSSCDKNTGDYYEDSYEDISAYLLSKNNAIEPRSFSQNSRHPSTRQKQFNATTIPENDIEKTDPWFAHRTPMPKIQNVSSSDLLMLLRQSPTPHGLSLSDLQEAKYETFSDDPSPGAIDSNNSLSEMTHFRPQLHHSGDMVFTPESGLQLRLNEKLGTTAATELKKLDFKVSSTSNNLISTIPSDNLAAGTDNTSSLGPPSMPVHYDSQLDTTLFGKKSSPLTESGGPLSLSEENNDSKLLESGLMNSQESSWGKNVSSTESGRLFKGKRAHGPALLTKDNALFKVSISLLKTNKTSNNSATNRKTHIDGPSLLIENSPSVWQNILESDTEFKKVTPLIHDRMLMDKNATALRLNHMSNKTTSSKNMEMVQQKKEGPIPPDAQNPDMSFFKMLFLPESARWIQRTHGKNSLNSGQGPSPKQLVSLGPEKSVEGQNFLSEKNKVVVGKGEFTKDVGLKEMVFPSSRNLFLTNLDNLHENNTHNQEKKIQEEIEKKETLIQENVVLPQIHTVTGTKNFMKNLFLLSTRQNVEGSYDGAYAPVLQDFRSLNDSTNRTKKHTAHFSKKGEEENLEGLGNQTKQIVEKYACTTRISPNTSQQNFVTQRSKRALKQFRLPLEETELEKRIIVDDTSTQWSKNMKHLTPSTLTQIDYNEKEKGAITQSPLSDCLTRSHSIPQANRSPLPIAKVSSFPSIRPIYLTRVLFQDNSSHLPAASYRKKDSGVQESSHFLQGAKKNNLSLAILTLEMTGDQREVGSLGTSATNSVTYKKVENTVLPKPDLPKTSGKVELLPKVHIYQKDLFPTETSNGSPGHLDLVEGSLLQGTEGAIKWNEANRPGKVPFLRVATESSAKTPSKLLDPLAWDNHYGTQIPKEEWKSQEKSPEKTAFKKKDTILSLNACESNHAIAAINEGQNKPEIEVTWAKQGRTERLCSQNPPVLKRHQREITRTTLQSDQEEIDYDDTISVEMKKEDFDIYDEDENQSPRSFQKKTRHYFIAAVERLWDYGMSSSPHVLRNRAQSGSVPQFKKVVFQEFTDGSFTQPLYRGELNEHLGLLGPYIRAEVEDNIMVTFRNQASRPYSFYSSLISYEEDQRQGAEPRKNFVKPNETKTYFWKVQHHMAPTKDEFDCKAWAYFSDVDLEKDVHSGLIGPLLVCHTNTLNPAHGRQVTVQEFALFFTIFDETKSWYFTENMERNCRAPCNIQMEDPTFKENYRFHAINGYIMDTLPGLVMAQDQRIRWYLLSMGSNENIHSIHFSGHVFTVRKKEEYKMALYNLYPGVFETVEMLPSKAGIWRVECLIGEHLHAGMSTLFLVYSNKCQTPLGMASGHIRDFQITASGQYGQWAPKLARLHYSGSINAWSTKEPFSWIKVDLLAPMIIHGIKTQGARQKFSSLYISQFIIMYSLDGKKWQTYRGNSTGTLMVFFGNVDSSGIKHNIFNPPIIARYIRLHPTHYSIRSTLRMELMGCDLNSCSMPLGMESKAISDAQITASSYFTNMFATWSPSKARLHLQGRSNAWRPQVNNPKEWLQVDFQKTMKVTGVTTQGVKSLLTSMYVKEFLISSSQDGHQWTLFFQNGKVKVFQGNQDSFTPVVNSLDPPLLTRYLRIHPQSWVHQIALRMEVLGCEAQDLY", "length": 2351, "header": "sp|P00451-1|FA8_HUMAN Isoform 1 of Coagulation factor VIII OS=Homo sapiens OX=9606 GN=F8 PE=1 SV=1 CANONICAL=P00451-1" }, "isoforms": [ { "isoform_ac": "A0A2R8Y707-1", "url": "", "sequence": { "sequence": "MLEQEEERENARKGGSAAHFQTIIRSCERSIRRIARGKSAPMIQSPPTRPFLQQVFFGNVDSSGIKHNIFNPPIIARYIRLHPTHYSIRSTLRMELMGCDLNSCSMPLGMESKAISDAQITASSYFTNMFATWSPSKARLHLQGRSNAWRPQVNNPKEWLQVDFQKTMKVTGVTTQGVKSLLTSMYVKEFLISSSQDGHQWTLFFQNGKVKVFQGNQDSFTPVVNSLDPPLLTRYLRIHPQSWVHQIALRMEVLGCEAQDLY", "length": 262, "header": "tr|A0A2R8Y707-1|A0A2R8Y707_HUMAN Computationally mapped isoform of Coagulation factor VIII OS=Homo sapiens OX=9606 GN=F8 PE=1 SV=1 CANONICAL=P00451-1" }, "locus": { "chromosome": "X", "start_pos": 154882198, "end_pos": 154837600, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644698.1", "url": "https://www.ensembl.org/id/ENST00000644698.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495706.1", "url": "https://www.ensembl.org/id/ENSP00000495706.1" } ] } }, { "isoform_ac": "A0A2R8Y7J7-1", "url": "", "sequence": { "sequence": "MQIELSTCFFLCLLRFCFSATRRYYLGAVELSWDYMQSDLDFLLECQNLFHSTPQSCTKRLCL", "length": 63, "header": "tr|A0A2R8Y7J7-1|FA8_HUMAN Computationally mapped isoform of Coagulation factor VIII OS=Homo sapiens OX=9606 GN=F8 PE=1 SV=1 CANONICAL=P00451-1" }, "locus": { "chromosome": "X", "start_pos": 155022552, "end_pos": 154999533, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000647125.1", "url": "https://www.ensembl.org/id/ENST00000647125.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496062.1", "url": "https://www.ensembl.org/id/ENSP00000496062.1" } ] } }, { "isoform_ac": "B1B0G8-1", "url": "", "sequence": { "sequence": "MHRDARAQKASRGFPPRVPKSFPFNTSVVYKKTLFVEFTDHLFNIAKPRPPWMGLLGPTIQAEVYDTVVITLKNMASHPVSLHAVGVSYWKASEGAEYDDQTSQREKEDDKVFPGGSHTYVWQVLKENGPMASDPLCLTYSYLSHVDLVKDLNSGLIGALLVCREGSLAKEKTQTLHKFILLFAVFDEGKSWHSETKNSLMQDRDAASARAWPKMHTVNGYV", "length": 222, "header": "tr|B1B0G8-1|B1B0G8_HUMAN Computationally mapped isoform of Coagulation factor VIII OS=Homo sapiens OX=9606 GN=F8 PE=1 SV=1 CANONICAL=P00451-1" }, "locus": { "chromosome": "X", "start_pos": 155026817, "end_pos": 154984703, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000423959.5", "url": "https://www.ensembl.org/id/ENST00000423959.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000409446.1", "url": "https://www.ensembl.org/id/ENSP00000409446.1" } ] } }, { "isoform_ac": "B1B0G9-1", "url": "", "sequence": { "sequence": "MHRDARAQKASRGATRRYYLGAVELSWDYMQSDLGELPVDARFPPRVPKSFPFNTSVVYKKTLFVEFTDHLFNIAKPRPPWMGLLGPTIQAEVYDTVVITLKNMASHPVSLHAVGVSYWKASEGAEYDDQTSQREKEDDKVFPGGSHTYVWQVLKENGPMASDP", "length": 164, "header": "tr|B1B0G9-1|B1B0G9_HUMAN Computationally mapped isoform of Coagulation factor VIII OS=Homo sapiens OX=9606 GN=F8 PE=1 SV=8 CANONICAL=P00451-1" }, "locus": { "chromosome": "X", "start_pos": 155026817, "end_pos": 154993027, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000453950.1", "url": "https://www.ensembl.org/id/ENST00000453950.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000389153.1", "url": "https://www.ensembl.org/id/ENSP00000389153.1" } ] } }, { "isoform_ac": "P00451-1", "url": "", "sequence": { "sequence": "MQIELSTCFFLCLLRFCFSATRRYYLGAVELSWDYMQSDLGELPVDARFPPRVPKSFPFNTSVVYKKTLFVEFTDHLFNIAKPRPPWMGLLGPTIQAEVYDTVVITLKNMASHPVSLHAVGVSYWKASEGAEYDDQTSQREKEDDKVFPGGSHTYVWQVLKENGPMASDPLCLTYSYLSHVDLVKDLNSGLIGALLVCREGSLAKEKTQTLHKFILLFAVFDEGKSWHSETKNSLMQDRDAASARAWPKMHTVNGYVNRSLPGLIGCHRKSVYWHVIGMGTTPEVHSIFLEGHTFLVRNHRQASLEISPITFLTAQTLLMDLGQFLLFCHISSHQHDGMEAYVKVDSCPEEPQLRMKNNEEAEDYDDDLTDSEMDVVRFDDDNSPSFIQIRSVAKKHPKTWVHYIAAEEEDWDYAPLVLAPDDRSYKSQYLNNGPQRIGRKYKKVRFMAYTDETFKTREAIQHESGILGPLLYGEVGDTLLIIFKNQASRPYNIYPHGITDVRPLYSRRLPKGVKHLKDFPILPGEIFKYKWTVTVEDGPTKSDPRCLTRYYSSFVNMERDLASGLIGPLLICYKESVDQRGNQIMSDKRNVILFSVFDENRSWYLTENIQRFLPNPAGVQLEDPEFQASNIMHSINGYVFDSLQLSVCLHEVAYWYILSIGAQTDFLSVFFSGYTFKHKMVYEDTLTLFPFSGETVFMSMENPGLWILGCHNSDFRNRGMTALLKVSSCDKNTGDYYEDSYEDISAYLLSKNNAIEPRSFSQNSRHPSTRQKQFNATTIPENDIEKTDPWFAHRTPMPKIQNVSSSDLLMLLRQSPTPHGLSLSDLQEAKYETFSDDPSPGAIDSNNSLSEMTHFRPQLHHSGDMVFTPESGLQLRLNEKLGTTAATELKKLDFKVSSTSNNLISTIPSDNLAAGTDNTSSLGPPSMPVHYDSQLDTTLFGKKSSPLTESGGPLSLSEENNDSKLLESGLMNSQESSWGKNVSSTESGRLFKGKRAHGPALLTKDNALFKVSISLLKTNKTSNNSATNRKTHIDGPSLLIENSPSVWQNILESDTEFKKVTPLIHDRMLMDKNATALRLNHMSNKTTSSKNMEMVQQKKEGPIPPDAQNPDMSFFKMLFLPESARWIQRTHGKNSLNSGQGPSPKQLVSLGPEKSVEGQNFLSEKNKVVVGKGEFTKDVGLKEMVFPSSRNLFLTNLDNLHENNTHNQEKKIQEEIEKKETLIQENVVLPQIHTVTGTKNFMKNLFLLSTRQNVEGSYDGAYAPVLQDFRSLNDSTNRTKKHTAHFSKKGEEENLEGLGNQTKQIVEKYACTTRISPNTSQQNFVTQRSKRALKQFRLPLEETELEKRIIVDDTSTQWSKNMKHLTPSTLTQIDYNEKEKGAITQSPLSDCLTRSHSIPQANRSPLPIAKVSSFPSIRPIYLTRVLFQDNSSHLPAASYRKKDSGVQESSHFLQGAKKNNLSLAILTLEMTGDQREVGSLGTSATNSVTYKKVENTVLPKPDLPKTSGKVELLPKVHIYQKDLFPTETSNGSPGHLDLVEGSLLQGTEGAIKWNEANRPGKVPFLRVATESSAKTPSKLLDPLAWDNHYGTQIPKEEWKSQEKSPEKTAFKKKDTILSLNACESNHAIAAINEGQNKPEIEVTWAKQGRTERLCSQNPPVLKRHQREITRTTLQSDQEEIDYDDTISVEMKKEDFDIYDEDENQSPRSFQKKTRHYFIAAVERLWDYGMSSSPHVLRNRAQSGSVPQFKKVVFQEFTDGSFTQPLYRGELNEHLGLLGPYIRAEVEDNIMVTFRNQASRPYSFYSSLISYEEDQRQGAEPRKNFVKPNETKTYFWKVQHHMAPTKDEFDCKAWAYFSDVDLEKDVHSGLIGPLLVCHTNTLNPAHGRQVTVQEFALFFTIFDETKSWYFTENMERNCRAPCNIQMEDPTFKENYRFHAINGYIMDTLPGLVMAQDQRIRWYLLSMGSNENIHSIHFSGHVFTVRKKEEYKMALYNLYPGVFETVEMLPSKAGIWRVECLIGEHLHAGMSTLFLVYSNKCQTPLGMASGHIRDFQITASGQYGQWAPKLARLHYSGSINAWSTKEPFSWIKVDLLAPMIIHGIKTQGARQKFSSLYISQFIIMYSLDGKKWQTYRGNSTGTLMVFFGNVDSSGIKHNIFNPPIIARYIRLHPTHYSIRSTLRMELMGCDLNSCSMPLGMESKAISDAQITASSYFTNMFATWSPSKARLHLQGRSNAWRPQVNNPKEWLQVDFQKTMKVTGVTTQGVKSLLTSMYVKEFLISSSQDGHQWTLFFQNGKVKVFQGNQDSFTPVVNSLDPPLLTRYLRIHPQSWVHQIALRMEVLGCEAQDLY", "length": 2351, "header": "sp|P00451-1|FA8_HUMAN Isoform 1 of Coagulation factor VIII OS=Homo sapiens OX=9606 GN=F8 PE=1 SV=1 CANONICAL=P00451-1" }, "locus": { "chromosome": "X", "start_pos": 155022552, "end_pos": 154837600, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000360256.9", "url": "https://www.ensembl.org/id/ENST00000360256.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000353393.4", "url": "https://www.ensembl.org/id/ENSP00000353393.4" } ] } }, { "isoform_ac": "P00451-2", "url": "", "sequence": { "sequence": "MRIQDPGKVFFGNVDSSGIKHNIFNPPIIARYIRLHPTHYSIRSTLRMELMGCDLNSCSMPLGMESKAISDAQITASSYFTNMFATWSPSKARLHLQGRSNAWRPQVNNPKEWLQVDFQKTMKVTGVTTQGVKSLLTSMYVKEFLISSSQDGHQWTLFFQNGKVKVFQGNQDSFTPVVNSLDPPLLTRYLRIHPQSWVHQIALRMEVLGCEAQDLY", "length": 216, "header": "sp|P00451-2|FA8_HUMAN Isoform 2 of Coagulation factor VIII OS=Homo sapiens OX=9606 GN=F8 PE=1 SV=1 CANONICAL=P00451-1" }, "locus": { "chromosome": "X", "start_pos": 154886157, "end_pos": 154837600, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000330287.10", "url": "https://www.ensembl.org/id/ENST00000330287.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000327895.6", "url": "https://www.ensembl.org/id/ENSP00000327895.6" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1020, "start_aa": "Asn", "end_pos": 1020, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1020", "evidence": [ { "id": "P00451", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00451#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1024, "start_aa": "Asn", "end_pos": 1024, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1024", "evidence": [ { "id": "P00451", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00451#ptm_processing" } ] }, { "glytoucan_ac": "G43089EG", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1074, "start_aa": "Asn", "end_pos": 1074, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1074", "evidence": [ { "id": "99", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/99" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G56784JY", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1074, "start_aa": "Asn", "end_pos": 1074, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1074", "evidence": [ { "id": "99", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/99" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1074, "start_aa": "Asn", "end_pos": 1074, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1074", "evidence": [ { "id": "P00451", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00451#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1085, "start_aa": "Asn", "end_pos": 1085, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1085", "evidence": [ { "id": "P00451", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00451#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1204, "start_aa": "Asn", "end_pos": 1204, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1204", "evidence": [ { "id": "P00451", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00451#ptm_processing" } ] }, { "glytoucan_ac": "G22310AV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1274, "start_aa": "Asn", "end_pos": 1274, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1274", "evidence": [ { "id": "99", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/99" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G37881RL", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1274, "start_aa": "Asn", "end_pos": 1274, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1274", "evidence": [ { "id": "99", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/99" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G56784JY", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1274, "start_aa": "Asn", "end_pos": 1274, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1274", "evidence": [ { "id": "99", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/99" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G59536GA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1274, "start_aa": "Asn", "end_pos": 1274, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1274", "evidence": [ { "id": "99", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/99" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1274, "start_aa": "Asn", "end_pos": 1274, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1274", "evidence": [ { "id": "P00451", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00451#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1278, "start_aa": "Asn", "end_pos": 1278, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1278", "evidence": [ { "id": "P00451", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00451#ptm_processing" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1301, "start_aa": "Asn", "end_pos": 1301, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1301", "evidence": [ { "id": "99", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/99" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G56784JY", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1301, "start_aa": "Asn", "end_pos": 1301, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1301", "evidence": [ { "id": "99", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/99" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1301, "start_aa": "Asn", "end_pos": 1301, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1301", "evidence": [ { "id": "P00451", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00451#ptm_processing" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1319, "start_aa": "Asn", "end_pos": 1319, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1319", "evidence": [ { "id": "99", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/99" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G56784JY", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1319, "start_aa": "Asn", "end_pos": 1319, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1319", "evidence": [ { "id": "99", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/99" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1319, "start_aa": "Asn", "end_pos": 1319, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1319", "evidence": [ { "id": "P00451", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00451#ptm_processing" } ] }, { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1396, "start_aa": "Ser", "end_pos": 1396, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1396", "evidence": [ { "id": "P00451", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1431, "start_aa": "Asn", "end_pos": 1431, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1431", "evidence": [ { "id": "P00451", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00451#ptm_processing" } ] }, { "glytoucan_ac": "G22310AV", "type": "N-linked", "subtype": "", 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"reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1461, "start_aa": "Asn", "end_pos": 1461, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1461", "evidence": [ { "id": "P00451", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00451#ptm_processing" } ] }, { "glytoucan_ac": "G33791AF", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1824, "start_aa": "Asn", "end_pos": 1824, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1824", "evidence": [ { "id": "99", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/99" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G57888GL", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", 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"MQLELSTCVFLCLLPLGFSAIRRYYLGAVELSWDYRQSELLRELHVDTRFPATAPGALPLGPSVLYKKTVFVEFTDQLFSVARPRPPWMGLLGPTIQAEVYDTVVVTLKNMASHPVSLHAVGVSFWKSSEGAEYEDHTSQREKEDDKVLPGKSQTYVWQVLKENGPTASDPPCLTYSYLSHVDLVKDLNSGLIGALLVCREGSLTRERTQNLHEFVLLFAVFDEGKSWHSARNDSWTRAMDPAPARAQPAMHTVNGYVNRSLPGLIGCHKKSVYWHVIGMGTSPEVHSIFLEGHTFLVRHHRQASLEISPLTFLTAQTFLMDLGQFLLFCHISSHHHGGMEAHVRVESCAEEPQLRRKADEEEDYDDNLYDSDMDVVRLDGDDVSPFIQIRSVAKKHPKTWVHYISAEEEDWDYAPAVPSPSDRSYKSLYLNSGPQRIGRKYKKARFVAYTDVTFKTRKAIPYESGILGPLLYGEVGDTLLIIFKNKASRPYNIYPHGITDVSALHPGRLLKGWKHLKDMPILPGETFKYKWTVTVEDGPTKSDPRCLTRYYSSSINLEKDLASGLIGPLLICYKESVDQRGNQMMSDKRNVILFSVFDENQSWYLAENIQRFLPNPDGLQPQDPEFQASNIMHSINGYVFDSLQLSVCLHEVAYWYILSVGAQTDFLSVFFSGYTFKHKMVYEDTLTLFPFSGETVFMSMENPGLWVLGCHNSDLRNRGMTALLKVYSCDRDIGDYYDNYEDIPGFLLSGKNVIEPRSFAQNSRPPSASQKQFQTITSPEDDVELDPQSGERTQALEELSVPSGDGSMLLGQNPAPHGSSSSDLQEARNEADDYLPGARERNTAPSAAARLRPELHHSAERVLTPEPEKELKKLDSKMSSSSDLLKTSPTIPSDTLSAETERTHSLGPPHPQVNFRSQLGAIVLGKNSSHFIGAGVPLGSSEEDHESSLGENVSPVESDGIFEEERAHGPASLTKDDVLFKVNISLVKTNKARVYLKTNRKIHIDDAALLTENRASATFMDKNTTASGLNHVSNWIKGPLGKNPLSSERRPSPELLTSSGSGKSVKGQSFWAGENTVAVEEEELSKGKEMMLPNSELTFLTNSADVQGNDTHSQGKKSREEMERREKLVQEKVDLPQVYTATGTKNFLRNIFSPKSTEPSVEGFDGGSHAPVPQDSRSLNDSAERAGTHIAHFSAIREEAPLEAPGNRTGPGPRSAVPARVKRDLKQIRLPLEEIKPERGVVLNATSTRWSESSPILQGAKRNNLSLPFLTLEMAGGQGKISALGKSAAGPLASGKLEKAVLSSAGLSEASGKAEFLPKVRVHREDLLPQKTSNVSRAHGDLGQEIFLQKTRGPVNLNKVNRPGRTPSKLLGPPMPKEWESLEKSPKSTALRTKDIISLPLDRHESNHSIAAKNEGQAETQREAAWTKQGGPGRLCAPKPPVLRRHQRDISLPTFQPEEDKMDYDDIFSTETKGEDFDIYGEDENQDPRSFQKRTRHYFIAAVEQLWDYGMSESPRALRNRAQNGEVPRFKKVVFREFADGSFTQPSYRGELNKHLGLLGPYIRAEVEDNIMVTFKNQASRPYSFYSSLISYPDDQEQGAEPRHNFVQPNETRTYFWKVQHHMAPTEDEFDCKAWAYFSDVDLEKDVHSGLIGPLLICRANTLNAAHGRQVTVQEFALFFTIFDETKSWYFTENVERNCRAPCHLQMEDPTLKENYRFHAINGYVMDTLPGLVMAQNQRIRWYLLSMGSNENIHSIHFSGHVFSVRKKEEYKMAVYNLYPGVFETVEMLPSKVGIWRIECLIGEHLQAGMSTTFLVYSKECQAPLGMASGRIRDFQITASGQYGQWAPKLARLHYSGSINAWSTKDPHSWIKVDLLAPMIIHGIMTQGARQKFSSLYISQFIIMYSLDGRNWQSYRGNSTGTLMVFFGNVDASGIKHNIFNPPIVARYIRLHPTHYSIRSTLRMELMGCDLNSCSMPLGMQNKAISDSQITASSHLSNIFATWSPSQARLHLQGRTNAWRPRVSSAEEWLQVDLQKTVKVTGITTQGVKSLLSSMYVKEFLVSSSQDGRRWTLFLQDGHTKVFQGNQDSSTPVVNALDPPLFTRYLRIHPTSWAQHIALRLELLGCEAQQHV", "length": 2133 }, "evidence": [ { "id": "P00451", "url": "https://omabrowser.org/oma/group/P00451/", "database": "OMA" } ], "common_name": "Pig" }, { "uniprot_canonical_ac": "Q06194-1", "protein_name": "Coagulation factor VIII", "gene_name": "F8", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MQIALFACFFLSLFNFCSSAIRRYYLGAVELSWNYIQSDLLSVLHTDSRFLPRMSTSFPFNTSIMYKKTVFVEYKDQLFNIAKPRPPWMGLLGPTIWTEVHDTVVITLKNMASHPVSLHAVGVSYWKASEGDEYEDQTSQMEKEDDKVFPGESHTYVWQVLKENGPMASDPPCLTYSYMSHVDLVKDLNSGLIGALLVCKEGSLSKERTQMLYQFVLLFAVFDEGKSWHSETNDSYTQSMDSASARDWPKMHTVNGYVNRSLPGLIGCHRKSVYWHVIGMGTTPEIHSIFLEGHTFFVRNHRQASLEISPITFLTAQTLLIDLGQFLLFCHISSHKHDGMEAYVKVDSCPEESQWQKKNNNEEMEDYDDDLYSEMDMFTLDYDSSPFIQIRSVAKKYPKTWIHYISAEEEDWDYAPSVPTSDNGSYKSQYLSNGPHRIGRKYKKVRFIAYTDETFKTRETIQHESGLLGPLLYGEVGDTLLIIFKNQASRPYNIYPHGITDVSPLHARRLPRGIKHVKDLPIHPGEIFKYKWTVTVEDGPTKSDPRCLTRYYSSFINPERDLASGLIGPLLICYKESVDQRGNQMMSDKRNVILFSIFDENQSWYITENMQRFLPNAAKTQPQDPGFQASNIMHSINGYVFDSLELTVCLHEVAYWHILSVGAQTDFLSIFFSGYTFKHKMVYEDTLTLFPFSGETVFMSMENPGLWVLGCHNSDFRKRGMTALLKVSSCDKSTSDYYEEIYEDIPTQLVNENNVIDPRSFFQNTNHPNTRKKKFKDSTIPKNDMEKIEPQFEEIAEMLKVQSVSVSDMLMLLGQSHPTPHGLFLSDGQEAIYEAIHDDHSPNAIDSNEGPSKVTQLRPESHHSEKIVFTPQPGLQLRSNKSLETTIEVKWKKLGLQVSSLPSNLMTTTILSDNLKATFEKTDSSGFPDMPVHSSSKLSTTAFGKKAYSLVGSHVPLNVSEENSDSNILDSTLMYSQESLPRDNILSMENDRLLREKRFHGIALLTKDNTLFKDNVSLMKTNKTYNHSTTNEKLHTESPTSIENSTTDLQDAILKVNSEIQEVTALIHDGTLLGKNSTYLRLNHMLNRTTSTKNKDIFHRKDEDPIPQDEENTIMPFSKMLFLSESSNWFKKTNGNNSLNSEQEHSPKQLVYLMFKKYVKNQSFLSEKNKVTVEQDGFTKNIGLKDMAFPHNMSIFLTTLSNVHENGRHNQEKNIQEEIEKEALIEEKVVLPQVHEATGSKNFLKDILILGTRQNISLYEVHVPVLQNITSINNSTNTVQIHMEHFFKRRKDKETNSEGLVNKTREMVKNYPSQKNITTQRSKRALGQFRLSTQWLKTINCSTQCIIKQIDHSKEMKKFITKSSLSDSSVIKSTTQTNSSDSHIVKTSAFPPIDLKRSPFQNKFSHVQASSYIYDFKTKSSRIQESNNFLKETKINNPSLAILPWNMFIDQGKFTSPGKSNTNSVTYKKRENIIFLKPTLPEESGKIELLPQVSIQEEEILPTETSHGSPGHLNLMKEVFLQKIQGPTKWNKAKRHGESIKGKTESSKNTRSKLLNHHAWDYHYAAQIPKDMWKSKEKSPEIISIKQEDTILSLRPHGNSHSIGANEKQNWPQRETTWVKQGQTQRTCSQIPPVLKRHQRELSAFQSEQEATDYDDAITIETIEDFDIYSEDIKQGPRSFQQKTRHYFIAAVERLWDYGMSTSHVLRNRYQSDNVPQFKKVVFQEFTDGSFSQPLYRGELNEHLGLLGPYIRAEVEDNIMVTFKNQASRPYSFYSSLISYKEDQRGEEPRRNFVKPNETKIYFWKVQHHMAPTEDEFDCKAWAYFSDVDLERDMHSGLIGPLLICHANTLNPAHGRQVSVQEFALLFTIFDETKSWYFTENVKRNCKTPCNFQMEDPTLKENYRFHAINGYVMDTLPGLVMAQDQRIRWYLLSMGNNENIQSIHFSGHVFTVRKKEEYKMAVYNLYPGVFETLEMIPSRAGIWRVECLIGEHLQAGMSTLFLVYSKQCQIPLGMASGSIRDFQITASGHYGQWAPNLARLHYSGSINAWSTKEPFSWIKVDLLAPMIVHGIKTQGARQKFSSLYISQFIIMYSLDGKKWLSYQGNSTGTLMVFFGNVDSSGIKHNSFNPPIIARYIRLHPTHSSIRSTLRMELMGCDLNSCSIPLGMESKVISDTQITASSYFTNMFATWSPSQARLHLQGRTNAWRPQVNDPKQWLQVDLQKTMKVTGIITQGVKSLFTSMFVKEFLISSSQDGHHWTQILYNGKVKVFQGNQDSSTPMMNSLDPPLLTRYLRIHPQIWEHQIALRLEILGCEAQQQY", "length": 2319 }, "evidence": [ { "id": "45922510", "url": "http://www.informatics.jax.org/homology/45922510", "database": "MGI" }, { "id": "P00451", "url": "https://omabrowser.org/oma/group/P00451/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "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": "P00451", "url": "https://www.uniprot.org/uniprot/P00451" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P00451", "url": "https://www.uniprot.org/uniprot/P00451" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "P00451", "url": "https://www.uniprot.org/uniprot/P00451" } ], "pmid": "" }, { "name": "Golgi lumen", "id": "GO:0005796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005796", "evidence": [ { "database": "UniProtKB", "id": "P00451", "url": "https://www.uniprot.org/uniprot/P00451" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P00451", "url": "https://www.uniprot.org/uniprot/P00451" } ], "pmid": "" }, { "name": "COPII-coated ER to Golgi transport vesicle", "id": "GO:0030134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030134", "evidence": [ { "database": "UniProtKB", "id": "P00451", "url": "https://www.uniprot.org/uniprot/P00451" } ], "pmid": "" }, { "name": "platelet alpha granule lumen", "id": "GO:0031093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031093", "evidence": [ { "database": "UniProtKB", "id": "P00451", "url": "https://www.uniprot.org/uniprot/P00451" } ], "pmid": "" }, { "name": "endoplasmic reticulum-Golgi intermediate compartment membrane", "id": "GO:0033116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033116", "evidence": [ { "database": "UniProtKB", "id": "P00451", "url": "https://www.uniprot.org/uniprot/P00451" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "blood coagulation, intrinsic pathway", "id": "GO:0007597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007597", "evidence": [ { "database": "UniProtKB", "id": "P00451", "url": "https://www.uniprot.org/uniprot/P00451" } ], "pmid": "" }, { "name": "acute-phase response", "id": "GO:0006953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006953", "evidence": [ { "database": "UniProtKB", "id": "P00451", "url": "https://www.uniprot.org/uniprot/P00451" } ], "pmid": "" }, { "name": "blood coagulation", "id": "GO:0007596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "database": "UniProtKB", "id": "P00451", "url": "https://www.uniprot.org/uniprot/P00451" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "P00451", "url": "https://www.uniprot.org/uniprot/P00451" } ], "pmid": "" }, { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "P00451", "url": "https://www.uniprot.org/uniprot/P00451" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "coagulation factor VIII O-glycosylated 1 (human)", "definition": "A coagulation factor VIII (human) that has been O-glycosylated at the residue equivalent to Ser-1396 of the amino acid sequence represented by UniProtKB:P00451-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P00451-1, Ser-1396, MOD:00002~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000051024", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051024" } ] }, { "name": "coagulation factor VIII O-glycosylated 2 (human)", "definition": "A coagulation factor VIII (human) that has been O-glycosylated at the residue equivalent to Thr-818 of the amino acid sequence represented by UniProtKB:P00451-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P00451-1, Thr-818, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000051025", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051025" } ] }, { "name": "coagulation factor VIII O-glycosylated 3 (human)", "definition": "A coagulation factor VIII (human) that has been O-glycosylated at the residue equivalent to Thr-869 of the amino acid sequence represented by UniProtKB:P00451-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P00451-1, Thr-869, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000051026", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051026" } ] } ], "site_annotation": [ { "start_pos": 1020, "end_pos": 1022, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1024, "end_pos": 1026, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1074, "end_pos": 1076, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1085, "end_pos": 1087, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1204, "end_pos": 1206, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1274, "end_pos": 1276, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1278, "end_pos": 1280, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1301, "end_pos": 1303, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1319, "end_pos": 1321, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1403, "end_pos": 1405, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1431, "end_pos": 1433, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1461, "end_pos": 1463, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1531, "end_pos": 1533, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1704, "end_pos": 1706, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1829, "end_pos": 1831, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2137, "end_pos": 2139, "annotation": "n_glycosylation_sequon" }, { "start_pos": 258, "end_pos": 260, "annotation": "n_glycosylation_sequon" }, { "start_pos": 601, "end_pos": 603, "annotation": "n_glycosylation_sequon" }, { "start_pos": 60, "end_pos": 62, "annotation": "n_glycosylation_sequon" }, { "start_pos": 776, "end_pos": 778, "annotation": "n_glycosylation_sequon" }, { "start_pos": 803, "end_pos": 805, "annotation": "n_glycosylation_sequon" }, { "start_pos": 847, "end_pos": 849, "annotation": "n_glycosylation_sequon" }, { "start_pos": 919, "end_pos": 921, "annotation": "n_glycosylation_sequon" }, { "start_pos": 962, "end_pos": 964, "annotation": "n_glycosylation_sequon" }, { "start_pos": 982, "end_pos": 984, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Proteolytically cleaved by cathepsin CTSG to produce a partially activated form.", "evidence": [ { "database": "UniProtKB", "id": "P00451", "url": "https://www.uniprot.org/uniprot/P00451" }, { "database": "PubMed", "id": "18217133", "url": "https://glygen.org/publication/PubMed/18217133" } ] }, { "annotation": "Sulfation on Tyr-1699 is essential for binding vWF.", "evidence": [ { "database": "UniProtKB", "id": "P00451", "url": "https://www.uniprot.org/uniprot/P00451" }, { "database": "PubMed", "id": "1554716", "url": "https://glygen.org/publication/PubMed/1554716" }, { "database": "PubMed", "id": "10368977", "url": "https://glygen.org/publication/PubMed/10368977" }, { "database": "PubMed", "id": "1898735", "url": "https://glygen.org/publication/PubMed/1898735" } ] } ], "interactions": [], 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