{ "uniprot_canonical_ac": "P07225-1", "uniprot_ac": "P07225", "uniprot_id": "PROS_HUMAN", "mass": { "chemical_mass": 75123.0, "monoisotopic_mass": 75123.0 }, "refseq": { "ac": "NP_000304", "name": "vitamin K-dependent protein S isoform 2 preproprotein", "summary": "This gene encodes a vitamin K-dependent plasma protein that functions as a cofactor for the anticoagulant protease, activated protein C (APC) to inhibit blood coagulation. It is found in plasma in both a free, functionally active form and also in an inactive form complexed with C4b-binding protein. Mutations in this gene result in autosomal dominant hereditary thrombophilia. An inactive pseudogene of this locus is located at an adjacent region on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Oct 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000304" }, "gene_names": [ { "name": "PROS1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P07225", "id": "P07225" }, { "name": "PROS1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000304", "id": "NP_000304" }, { "name": "PROS; PS21; PS22; PS23; PS24; PS25; PSA; THPH5; THPH6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000304", "id": "NP_000304" }, { "name": "PROS", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07225", "id": "P07225" } ], "protein_names": [ { "name": "Vitamin K-dependent protein S", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P07225" }, { "name": "protein Sa; vitamin K-dependent plasma protein S; protein S (alpha)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000304", "id": "NP_000304" }, { "name": "vitamin K-dependent protein S isoform 2 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000304", "id": "NP_000304" } ], "function": [ { "annotation": "Activated protein C, protein S, and tissue factor pathway inhibitor cooperate to inhibit thrombin activation.", "evidence": [ { "database": "RefSeq", "id": "NP_000304", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000304" }, { "database": "PubMed", "id": "37660436", "url": "https://glygen.org/publication/PubMed/37660436" } ] }, { "annotation": "Anticoagulant plasma protein; it is a cofactor to activated protein C in the degradation of coagulation factors Va and VIIIa. It helps to prevent coagulation and stimulating fibrinolysis.", "evidence": [ { "database": "UniProtKB", "id": "A0A3B3ISJ1", "url": "https://www.uniprot.org/uniprot/A0A3B3ISJ1#function" }, { "database": "UniProtKB", "id": "ARBA00002240", "url": "https://www.uniprot.org/uniprot/ARBA00002240#function" }, { "database": "UniProtKB", "id": "A0A0S2Z4L3", "url": "https://www.uniprot.org/uniprot/A0A0S2Z4L3#function" }, { "database": "UniProtKB", "id": "A0A3B3IRK9", "url": "https://www.uniprot.org/uniprot/A0A3B3IRK9#function" }, { "database": "UniProtKB", "id": "G5E9F8", "url": "https://www.uniprot.org/uniprot/G5E9F8#function" }, { "database": "UniProtKB", "id": "P07225", "url": "https://www.uniprot.org/uniprot/P07225#function" } ] }, { "annotation": "Dysregulation of Protein S in COVID-19. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000304", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000304" }, { "database": "PubMed", "id": "36494145", "url": "https://glygen.org/publication/PubMed/36494145" } ] }, { "annotation": "Protein C and S levels in patients with Thalassemia intermedia.", "evidence": [ { "database": "RefSeq", "id": "NP_000304", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000304" }, { "database": "PubMed", "id": "36567848", "url": "https://glygen.org/publication/PubMed/36567848" } ] }, { "annotation": "This gene encodes a vitamin K-dependent plasma protein that functions as a cofactor for the anticoagulant protease, activated protein C (APC) to inhibit blood coagulation. It is found in plasma in both a free, functionally active form and also in an inactive form complexed with C4b-binding protein. Mutations in this gene result in autosomal dominant hereditary thrombophilia. An inactive pseudogene of this locus is located at an adjacent region on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Oct 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_000304", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000304" } ] } ], "disease": [ { "disease_id": "DOID:0111900", "recommended_name": { "id": "DOID:0111900", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111900", "name": "autosomal dominant thrombophilia due to protein S deficiency", "description": "A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROS1 gene on chromosome 3q11.1." }, "synonyms": [ { "id": "DOID:0111900", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111900", "name": "THPH5", "description": "" }, { "id": "MONDO:0012868", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012868", "name": "thrombophilia due to protein S deficiency, autosomal dominant", "description": "Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency." }, { "id": "MONDO:0012868", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012868", "name": "autosomal dominant hereditary thrombophilia due to congenital protein S deficiency", "description": "" }, { "id": "MONDO:0012868", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012868", "name": "hereditary thrombophilia due to congenital protein S deficiency, autosomal dominant", "description": "" }, { "id": "MONDO:0012868", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012868", "name": "thrombophilia 5 due to protein S deficiency, autosomal dominant", "description": "" }, { "id": "MONDO:0012868", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012868", "name": "thrombophilia due to protein S deficiency, autosomal dominant", "description": "" }, { "id": "MONDO:0012868", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012868", "name": "THPH5", "description": "" }, { "id": "MONDO:0012868", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012868", "name": "protein S acquired deficiency", "description": "" }, { "id": "MIM:612336", "resource": "MIM", "url": "https://www.omim.org/entry/612336", "name": "Thrombophilia due to protein S deficiency, autosomal dominant", "description": "Thrombophilia due to protein S deficiency, autosomal dominant" } ], "evidence": [ { "id": "612336", "database": "MIM", "url": "https://www.omim.org/entry/612336" } ] }, { "disease_id": "DOID:0111905", "recommended_name": { "id": "DOID:0111905", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111905", "name": "autosomal recessive thrombophilia due to protein S deficiency", "description": "A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the PROS1 gene on chromosome 3q11.1." }, "synonyms": [ { "id": "DOID:0111905", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111905", "name": "THPH6", "description": "" }, { "id": "DOID:0111905", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111905", "name": "severe hereditary thrombophilia due to congenital protein S deficiency", "description": "" }, { "id": "DOID:0111905", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111905", "name": "autosomal recessive thrombophilia due to congenital protein S deficiency", "description": "" }, { "id": "MONDO:0013791", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013791", "name": "thrombophilia due to protein S deficiency, autosomal recessive", "description": "" }, { "id": "MONDO:0013791", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013791", 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"snv": [ { "evidence": [ { "id": "rs754897308", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754897308" }, { "id": "rs754897308", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs754897308" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 104, "end_pos": 104, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "3", "chr_pos": "93910655", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T104", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753950548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753950548" }, { "id": "rs753950548", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753950548" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 104, "end_pos": 104, "sequence_org": "T", "sequence_mut": "N", "comment": 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"n-glyco-sequon-gain" ], "start_pos": 76, "end_pos": 76, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDP->NDS).", "chr_id": "3", "chr_pos": "93924252", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P76", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 515, "end_pos": 515, "sequence_org": "R", "sequence_mut": "A", "comment": "Markedly reduced secretion of the mutant.", "evidence": [ { "database": "UniProtKB", "id": "P07225", "url": "https://www.uniprot.org/uniprot/P07225" }, { "database": "PubMed", "id": "8639833", "url": "https://glygen.org/publication/PubMed/8639833" } ] }, { "start_pos": 515, "end_pos": 515, "sequence_org": "R", "sequence_mut": "E", "comment": "Markedly reduced secretion of the mutant.", "evidence": [ { "database": "UniProtKB", "id": "P07225", "url": "https://www.uniprot.org/uniprot/P07225" }, { "database": "PubMed", "id": "8639833", 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disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P07225", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07225" } ], "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", 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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": "P07225", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07225" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P07225", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07225" } ], "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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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07225" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"id": "NP_000304", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000304", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P07225", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A0S2Z4L3", "url": "https://www.uniprot.org/uniprot/A0A0S2Z4L3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0S2Z4L3-1", "url": "https://www.uniprot.org/uniprot/A0A0S2Z4L3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3IRK9", "url": "https://www.uniprot.org/uniprot/A0A3B3IRK9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3IRK9-1", "url": "https://www.uniprot.org/uniprot/A0A3B3IRK9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ISJ1", "url": "https://www.uniprot.org/uniprot/A0A3B3ISJ1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ISJ1-1", "url": "https://www.uniprot.org/uniprot/A0A3B3ISJ1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ITZ7", "url": "https://www.uniprot.org/uniprot/A0A3B3ITZ7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ITZ7-1", "url": "https://www.uniprot.org/uniprot/A0A3B3ITZ7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3IUA6", "url": "https://www.uniprot.org/uniprot/A0A3B3IUA6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3IUA6-1", "url": "https://www.uniprot.org/uniprot/A0A3B3IUA6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9K0R0", "url": "https://www.uniprot.org/uniprot/C9K0R0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9K0R0-1", "url": "https://www.uniprot.org/uniprot/C9K0R0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G5E9F8", "url": "https://www.uniprot.org/uniprot/G5E9F8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G5E9F8-1", "url": "https://www.uniprot.org/uniprot/G5E9F8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07225", "url": "https://www.uniprot.org/uniprot/P07225", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07225-1", "url": "https://www.uniprot.org/uniprot/P07225-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRVLGGRCGALLACLLLVLPVSEANFLSKQQASQVLVRKRRANSLLEETKQGNLERECIEELCNKEEAREVFENDPETDYFYPKYLVCLRSFQTGLFTAARQSTNAYPDLRSCVNAIPDQCSPLPCNEDGYMSCKDGKASFTCTCKPGWQGEKCEFDINECKDPSNINGGCSQICDNTPGSYHCSCKNGFVMLSNKKDCKDVDECSLKPSICGTAVCKNIPGDFECECPEGYRYNLKSKSCEDIDECSENMCAQLCVNYPGGYTCYCDGKKGFKLAQDQKSCEVVSVCLPLNLDTKYELLYLAEQFAGVVLYLKFRLPEISRFSAEFDFRTYDSEGVILYAESIDHSAWLLIALRGGKIEVQLKNEHTSKITTGGDVINNGLWNMVSVEELEHSISIKIAKEAVMDINKPGPLFKPENGLLETKVYFAGFPRKVESELIKPINPRLDGCIRSWNLMKQGASGIKEIIQEKQNKHCLVTVEKGSYYPGSGIAQFHIDYNNVSSAEGWHVNVTLNIRPSTGTGVMLALVSGNNTVPFAVSLVDSTSEKSQDILLSVENTVIYRIQALSLCSDQQSHLEFRVNRNNLELSTPLKIETISHEDLQRQLAVLDKAMKAKVATYLGGLPDVPFSATPVNAFYNGCMEVNINGVQLDLDEAISKHNDIRAHSCPSVWKKTKNS", "length": 676, "header": "sp|P07225-1|PROS_HUMAN Isoform 1 of Vitamin K-dependent protein S OS=Homo sapiens OX=9606 GN=PROS1 PE=1 SV=1 CANONICAL=P07225-1" }, "isoforms": [ { "isoform_ac": "A0A0S2Z4L3-1", "url": "", "sequence": { "sequence": "MRVLGGRCGALLACLLLVLPVSEANFCLYFRNDFIYNRACISVLVGLSGCNFFYSICFLSKQQASQVLVRKRRANSLLEETKQGNLERECIEELCNKEEAREVFENDPETDYFYPKYLVCLRSFQTGLFTAARQSTNAYPDLRSCVNAIPDQCSPLPCNEDGYMSCKDGKASFTCTCKPGWQGEKCEFDINECKDPSNINGGCSQICDNTPGSYHCSCKNGFVMLSNKKDCKDVDECSLKPSICGTAVCKNIPGDFECECPEGYRYNLKSKSCEDIDECSENMCAQLCVNYPGGYTCYCDGKKGFKLAQDQKSCEVVSVCLPLNLDTKYELLYLAEQFAGVVLYLKFRLPEISRFSAEFDFRTYDSEGVILYAESIDHSAWLLIALRGGKIEVQLKNEHTSKITTGGDVINNGLWNMVSVEELEHSISIKIAKEAVMDINKPGPLFKPENGLLETKVYFAGFPRKVESELIKPINPRLDGCIRSWNLMKQGASGIKEIIQEKQNKHCLVTVEKGSYYPGSGIAQFHIDYNNVSSAEGWHVNVTLNIRPSTGTGVMLALVSGNNTVPFAVSLVDSTSEKSQDILLSVENTVIYRIQALSLCSDQQSHLEFRVNRNNLELSTPLKIETISHEDLQRQLAVLDKAMKAKVATYLGGLPDVPFSATPVNAFYNGCMEVNINGVQLDLDEAISKHNDIRAHSCPSVWKKTKNS", "length": 708, "header": "tr|A0A0S2Z4L3-1|PROS_HUMAN Computationally mapped isoform of Vitamin K-dependent protein S OS=Homo sapiens OX=9606 GN=PROS1 PE=1 SV=1 CANONICAL=P07225-1" }, "locus": { "chromosome": "3", "start_pos": 93973749, "end_pos": 93874248, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000650591.1", "url": "https://www.ensembl.org/id/ENST00000650591.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497376.1", "url": "https://www.ensembl.org/id/ENSP00000497376.1" } ] } }, { "isoform_ac": "A0A3B3IRK9-1", "url": "", "sequence": { "sequence": "MRVLGGRCGALLACLLLVLPVSEANFLSKQQASQVLVRKRRANSLLEETKQGNLERECIEELCNKEEAREVFENDPETDYFYPKYLVCLRSFQTGLFTAARQSTNAYPDLRSCVNAIPDQCSPLPCNEDGYMSCKDGKASFTCTCKPGWQGEKCEFDINECKDPSNINGGCSQICDNTPGSYHCSCKNGFVMLSNKKDCKDVDECSLKPSICGTAVCKNIPGDFECECPEGYRYNLKSKSCEDIDECSENMCAQLCVNYPGGYTCYCDGKKGFKLAQDQKSCEVVSVCLPLNLDTKYELLYLAEQFAGVVLYLKFRLPEISRFSAEFDFRTYDSEGVILYAESIDHSAWLLIALRGGKIEVQLKNEHTSKITTGGDVINNGLWNMVSVEELEHSISIKIAKEAVMDINKPGPLFKPENGLLETKVYFAGFPRKVESELIKPINPRLDGCIRSWNLMKQGASGIKEIIQEKQNKHCLVTVEKGSYYPGSGIAQFHIDYNNVSSAEGWHVNVTLNIRPSTGTGVMLALVSGNNTVPFAVSLVDSTSEKSQMFHSVPHQ", "length": 556, "header": "tr|A0A3B3IRK9-1|A0A3B3IRK9_HUMAN Computationally mapped isoform of Vitamin K-dependent protein S OS=Homo sapiens OX=9606 GN=PROS1 PE=1 SV=1 CANONICAL=P07225-1" }, "locus": { "chromosome": "3", "start_pos": 93973749, "end_pos": 93874382, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000647936.1", "url": "https://www.ensembl.org/id/ENST00000647936.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496822.1", "url": "https://www.ensembl.org/id/ENSP00000496822.1" } ] } }, { "isoform_ac": "A0A3B3ISJ1-1", "url": "", "sequence": { "sequence": "MTTGTIHWGNSFLSKQQASQVLVRKRRANSLLEETKQGNLERECIEELCNKEEAREVFENDPETDYFYPKYLVCLRSFQTGLFTAARQSTNAYPDLRSCVNAIPDQCSPLPCNEDGYMSCKDGKASFTCTCKPGWQGEKCEFDINECKDPSNINGGCSQICDNTPGSYHCSCKNGFVMLSNKKDCKDVDECSLKPSICGTAVCKNIPGDFECECPEGYRYNLKSKSCEDIDECSENMCAQLCVNYPGGYTCYCDGKKGFKLAQDQKSCEVVSVCLPLNLDTKYELLYLAEQFAGVVLYLKFRLPEISRFSAEFDFRTYDSEGVILYAESIDHSAWLLIALRGGKIEVQLKNEHTSKITTGGDVINNGLWNMVSVEELEHSISIKIAKEAVMDINKPGPLFKPENGLLETKVYFAGFPRKVESELIKPINPRLDGCIRSWNLMKQGASGIKEIIQEKQNKHCLVTVEKGSYYPGSGIAQFHIDYNNVSSAEGWHVNVTLNIRPSTGTGVMLALVSGNNTVPFAVSLVDSTSEKSQDILLSVENTVIYRIQALSLCSDQQSHLEFRVNRNNLELSTPLKIETISHEDLQRQLAVLDKAMKAKVATYLGGLPDVPFSATPVNAFYNGCMEVNINGVQLDLDEAISKHNDIRAHSCPSVWKKTKNS", "length": 662, "header": "tr|A0A3B3ISJ1-1|PROS_HUMAN Computationally mapped isoform of Vitamin K-dependent protein S OS=Homo sapiens OX=9606 GN=PROS1 PE=1 SV=1 CANONICAL=P07225-1" }, "locus": { "chromosome": "3", "start_pos": 93979677, "end_pos": 93874248, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000648853.1", "url": "https://www.ensembl.org/id/ENST00000648853.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497262.1", "url": "https://www.ensembl.org/id/ENSP00000497262.1" } ] } }, { "isoform_ac": "A0A3B3ITZ7-1", "url": "", "sequence": { "sequence": "CGALLACLLLVLPVSEANFLSKQQASQVLVRKRRANSLLEETKQGNLERECIEELCNKEEAREVFENDPETDYFYPKYLAPCCVTQAGVLWPALSSLQLLSPWFK", "length": 105, "header": "tr|A0A3B3ITZ7-1|A0A3B3ITZ7_HUMAN Computationally mapped isoform of Protein S OS=Homo sapiens OX=9606 GN=PROS1 PE=1 SV=1 CANONICAL=P07225-1" }, "locus": { "chromosome": "3", "start_pos": 93973728, "end_pos": 93923818, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000649103.1", "url": "https://www.ensembl.org/id/ENST00000649103.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497962.1", "url": "https://www.ensembl.org/id/ENSP00000497962.1" } ] } }, { "isoform_ac": "A0A3B3IUA6-1", "url": "", "sequence": { "sequence": "PENGLLETKVYFAGFPRKVESELIKPINPRLDGCIRSWNLMKQGASGIKEIIQEKQNKHCLVTVEKGSYYPGSGIAQFHIDYNRVSLCHPGWSAVVQSWLTVT", "length": 103, "header": "tr|A0A3B3IUA6-1|PROS_HUMAN Computationally mapped isoform of Vitamin K-dependent protein S OS=Homo sapiens OX=9606 GN=PROS1 PE=1 SV=1 CANONICAL=P07225-1" }, "locus": { "chromosome": "3", "start_pos": 93886413, "end_pos": 93881257, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000649585.1", "url": "https://www.ensembl.org/id/ENST00000649585.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498163.1", "url": "https://www.ensembl.org/id/ENSP00000498163.1" } ] } }, { "isoform_ac": "C9K0R0-1", "url": "", "sequence": { "sequence": "MSCKDGKASFTCTCKPGWQGEKCEFDINECKDPSNINGGCSQICDNTPGSYHCSCKN", "length": 57, "header": "tr|C9K0R0-1|C9K0R0_HUMAN Computationally mapped isoform of Protein S OS=Homo sapiens OX=9606 GN=PROS1 PE=1 SV=2 CANONICAL=P07225-1" }, "locus": { "chromosome": "3", "start_pos": 93906096, "end_pos": 93905821, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000472684.2", "url": "https://www.ensembl.org/id/ENST00000472684.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000419616.2", "url": "https://www.ensembl.org/id/ENSP00000419616.2" } ] } }, { "isoform_ac": "G5E9F8-1", "url": "", "sequence": { "sequence": "MRVLGGRCGALLACLLLVLPVSEANFLSKQQASQVLVRKRRANSLLEETKQGNLERECIEELCNKEEAREVFENDPETDYFYPKYLVCLRSFQTGLFTAARQSTNAYPDLRSCVNAIPDQCSPLPCNEDGYMSCKDGKASFTCTCKPGWQGEKCEFDINECKDPSNINGGCSQICDNTPGSYHCSYVDECSLKPSICGTAVCKNIPGDFECECPEGYRYNLKSKSCEDIDECSENMCAQLCVNYPGGYTCYCDGKKGFKLAQDQKSCEVVSVCLPLNLDTKYELLYLAEQFAGVVLYLKFRLPEISRFSAEFDFRTYDSEGVILYAESIDHSAWLLIALRGGKIEVQLKNEHTSKITTGGDVINNGLWNMVSVEELEHSISIKIAKEAVMDINKPGPLFKPENGLLETKVYFAGFPRKVESELIKPINPRLDGCIRSWNLMKQGASGIKEIIQEKQNKHCLVTVEKGSYYPGSGIAQFHIDYNNVSSAEGWHVNVTLNIRPSTGTGVMLALVSGNNTVPFAVSLVDSTSEKSQDILLSVENTVIYRIQALSLCSDQQSHLEFRVNRNNLELSTPLKIETISHEDLQRQLAVLDKAMKAKVATYLGGLPDVPFSATPVNAFYNGCMEVNINGVQLDLDEAISKHNDIRAHSCPSVWKKTKNS", "length": 661, "header": "tr|G5E9F8-1|G5E9F8_HUMAN Computationally mapped isoform of Vitamin K-dependent protein S OS=Homo sapiens OX=9606 GN=PROS1 PE=1 SV=2 CANONICAL=P07225-1" }, "locus": { "chromosome": "3", "start_pos": 93973749, "end_pos": 93874248, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000407433.6", "url": "https://www.ensembl.org/id/ENST00000407433.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000385794.2", "url": "https://www.ensembl.org/id/ENSP00000385794.2" } ] } }, { "isoform_ac": "P07225-1", "url": "", "sequence": { "sequence": "MRVLGGRCGALLACLLLVLPVSEANFLSKQQASQVLVRKRRANSLLEETKQGNLERECIEELCNKEEAREVFENDPETDYFYPKYLVCLRSFQTGLFTAARQSTNAYPDLRSCVNAIPDQCSPLPCNEDGYMSCKDGKASFTCTCKPGWQGEKCEFDINECKDPSNINGGCSQICDNTPGSYHCSCKNGFVMLSNKKDCKDVDECSLKPSICGTAVCKNIPGDFECECPEGYRYNLKSKSCEDIDECSENMCAQLCVNYPGGYTCYCDGKKGFKLAQDQKSCEVVSVCLPLNLDTKYELLYLAEQFAGVVLYLKFRLPEISRFSAEFDFRTYDSEGVILYAESIDHSAWLLIALRGGKIEVQLKNEHTSKITTGGDVINNGLWNMVSVEELEHSISIKIAKEAVMDINKPGPLFKPENGLLETKVYFAGFPRKVESELIKPINPRLDGCIRSWNLMKQGASGIKEIIQEKQNKHCLVTVEKGSYYPGSGIAQFHIDYNNVSSAEGWHVNVTLNIRPSTGTGVMLALVSGNNTVPFAVSLVDSTSEKSQDILLSVENTVIYRIQALSLCSDQQSHLEFRVNRNNLELSTPLKIETISHEDLQRQLAVLDKAMKAKVATYLGGLPDVPFSATPVNAFYNGCMEVNINGVQLDLDEAISKHNDIRAHSCPSVWKKTKNS", "length": 676, "header": "sp|P07225-1|PROS_HUMAN Isoform 1 of Vitamin K-dependent protein S OS=Homo sapiens OX=9606 GN=PROS1 PE=1 SV=1 CANONICAL=P07225-1" }, "locus": { "chromosome": "3", "start_pos": 93973749, "end_pos": 93874248, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000348974.5", "url": "https://www.ensembl.org/id/ENST00000348974.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000330021.7", "url": "https://www.ensembl.org/id/ENSP00000330021.7" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "QSTNAYPDLR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 102, "start_aa": "Gln", "end_pos": 111, "end_aa": "Arg", "evidence": [ { "id": "P07225", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" }, { "id": "28035807", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28035807" }, { "id": "10.1021/acs.analchem.6b02887", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1021/acs.analchem.6b02887" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 104, "start_aa": "Thr", "end_pos": 104, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr104", "evidence": [ { "id": "P07225", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 122, "start_aa": "Ser", "end_pos": 122, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser122", "evidence": [ { "id": "P07225", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G71142DF", "type": "O-linked", "subtype": "O-glucosylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-glucosylation", "start_pos": 181, "start_aa": "Ser", "end_pos": 181, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser181", "evidence": [ { "id": "PRU00076", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00076" }, { "id": "GLY_000716", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000716" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 499, "start_aa": "Asn", "end_pos": 499, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn499", "evidence": [ { "id": "P07225", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07225#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 509, "start_aa": "Asn", "end_pos": 509, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn509", "evidence": [ { "id": "P07225", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07225#ptm_processing" } ] }, { "glytoucan_ac": "G00912UN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 530, "start_aa": "Asn", "end_pos": 530, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn530", "evidence": [ { "id": "P07225", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 530, "start_aa": "Asn", "end_pos": 530, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn530", "evidence": [ { "id": "2090", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2090" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 530, "start_aa": "Asn", "end_pos": 530, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn530", "evidence": [ { "id": "P07225", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07225#ptm_processing" }, { "id": "16335952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" } 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The French Network on Molecular Abnormalities Responsible for Protein C and Protein S Deficiencies.", "journal": "The Journal of laboratory and clinical medicine", "date": "1996", "authors": "Borgel D, Duchemin J, Alhenc-Gelas M, Matheron C, Aiach M, Gandrille S", "evidence": [ { "database": "UniProtKB", "id": "P07225", "url": "https://www.uniprot.org/uniprot/P07225" } ], "reference": [ { "type": "PubMed", "id": "8765219", "url": "https://glygen.org/publication/PubMed/8765219" } ] }, { "title": "Molecular basis of protein S deficiency in three families also showing independent inheritance of factor V leiden.", "journal": "Blood", "date": "1996", "authors": "Beauchamp NJ, Daly ME, Cooper PC, Makris M, Preston FE, Peake IR", "evidence": [ { "database": "UniProtKB", "id": "P07225", "url": "https://www.uniprot.org/uniprot/P07225" } ], "reference": [ { "type": "PubMed", "id": "8781426", "url": "https://glygen.org/publication/PubMed/8781426" } ] }, { "title": "Localization of classical and alternative pathway regulatory activity within the decay-accelerating factor.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1996", "authors": "Brodbeck WG, Liu D, Sperry J, Mold C, Medof ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "8786315", "url": "https://glygen.org/publication/PubMed/8786315" } ] }, { "title": "Human blood coagulation factor XI. Purification, properties, and mechanism of activation by activated factor XII.", "journal": "The Journal of biological chemistry", "date": "1977", "authors": "Bouma BN, Griffin JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "893417", "url": "https://glygen.org/publication/PubMed/893417" } ] }, { "title": "Identification of 19 protein S gene mutations in patients with phenotypic protein S deficiency and thrombosis. Protein S Study Group.", "journal": "Blood", "date": "1996", "authors": "Simmonds RE, Ireland H, Kunz G, Lane DA", "evidence": [ { "database": "UniProtKB", "id": "P07225", "url": "https://www.uniprot.org/uniprot/P07225" } ], "reference": [ { "type": "PubMed", "id": "8943854", "url": "https://glygen.org/publication/PubMed/8943854" } ] }, { "title": "Identification of two novel point mutations in the human protein S gene associated with familial protein S deficiency and thrombosis.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "1996", "authors": "Li M, Long GL", "evidence": [ { "database": "UniProtKB", "id": "P07225", "url": "https://www.uniprot.org/uniprot/P07225" } ], "reference": [ { "type": "PubMed", "id": "8977443", "url": "https://glygen.org/publication/PubMed/8977443" } ] }, { "title": "Identification of three novel mutations in hereditary protein S deficiency.", "journal": "Thrombosis and haemostasis", "date": "1997", "authors": "Bustorff TC, Freire I, Gago T, Crespo F, David D", "evidence": [ { "database": "UniProtKB", "id": "P07225", "url": "https://www.uniprot.org/uniprot/P07225" } ], "reference": [ { "type": "PubMed", "id": "9031443", "url": "https://glygen.org/publication/PubMed/9031443" } ] }, { "title": "Binding of human and rat CD59 to the terminal complement complexes.", "journal": "Immunology", "date": "1997", "authors": "Lehto T, Morgan BP, Meri S", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "9038722", "url": "https://glygen.org/publication/PubMed/9038722" } ] }, { "title": "An endothelial receptor for oxidized low-density lipoprotein.", "journal": "Nature", "date": "1997", "authors": "Sawamura T, Kume N, Aoyama T, Moriwaki H, Hoshikawa H, Aiba Y, Tanaka T, Miwa S, Katsura Y, Kita T, Masaki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "9052782", "url": "https://glygen.org/publication/PubMed/9052782" } ] }, { "title": "Differential recognition of members of the carcinoembryonic antigen family by Opa variants of Neisseria gonorrhoeae.", "journal": "Infection and immunity", "date": "1997", "authors": "Bos MP, Grunert F, Belland RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "9169774", "url": "https://glygen.org/publication/PubMed/9169774" } ] }, { "title": "Identification of functional endothelial protein C receptor in human plasma.", "journal": "The Journal of clinical investigation", "date": "1997", "authors": "Kurosawa S, Stearns-Kurosawa DJ, Hidari N, Esmon CT", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "9218519", "url": "https://glygen.org/publication/PubMed/9218519" } ] }, { "title": "High molecular weight kininogen peptides inhibit the formation of kallikrein on endothelial cell surfaces and subsequent urokinase-dependent plasmin formation.", "journal": "Blood", "date": "1997", "authors": "Lin Y, Harris RB, Yan W, McCrae KR, Zhang H, Colman RW", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "9226169", "url": "https://glygen.org/publication/PubMed/9226169" } ] }, { "title": "Protein S deficiency: a database of mutations. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.", "journal": "Thrombosis and haemostasis", "date": "1997", "authors": "Gandrille S, Borgel D, Ireland H, Lane DA, Simmonds R, Reitsma PH, Mannhalter C, Pabinger I, Saito H, Suzuki K, Formstone C, Cooper DN, Espinosa Y, Sala N, Bernardi F, Aiach M", "evidence": [ { "database": "UniProtKB", "id": "P07225", "url": "https://www.uniprot.org/uniprot/P07225" } ], "reference": [ { "type": "PubMed", "id": "9241758", "url": "https://glygen.org/publication/PubMed/9241758" } ] }, { "title": "An antagonist decoy receptor and a death domain-containing receptor for TRAIL.", "journal": "Science (New York, N.Y.)", "date": "1997", "authors": "Pan G, Ni J, Wei YF, Yu G, Gentz R, Dixit VM", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "9242610", "url": "https://glygen.org/publication/PubMed/9242610" } ] }, { "title": "A novel association of Fc receptor gamma-chain with glycoprotein VI and their co-expression as a collagen receptor in human platelets.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Tsuji M, Ezumi Y, Arai M, Takayama H", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "9295288", "url": "https://glygen.org/publication/PubMed/9295288" } ] }, { "title": "Epithelial cell adhesion molecule (Ep-CAM) modulates cell-cell interactions mediated by classic cadherins.", "journal": "The Journal of cell biology", "date": "1997", "authors": "Litvinov SV, Balzar M, Winter MJ, Bakker HA, Briaire-de Bruijn IH, Prins F, Fleuren GJ, Warnaar SO", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "9382878", "url": "https://glygen.org/publication/PubMed/9382878" } ] }, { "title": "High molecular weight kininogen regulates prekallikrein assembly and activation on endothelial cells: a novel mechanism for contact activation.", "journal": "Blood", "date": "1998", "authors": "Motta G, Rojkjaer R, Hasan AA, Cines DB, Schmaier AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "9427705", "url": "https://glygen.org/publication/PubMed/9427705" } ] }, { "title": "Effects of melagatran, a new low-molecular-weight thrombin inhibitor, on thrombin and fibrinolytic enzymes.", "journal": "Thrombosis and haemostasis", "date": "1998", "authors": "Gustafsson D, Antonsson T, Bylund R, Eriksson U, Gyzander E, Nilsson I, Elg M, Mattsson C, Deinum J, Pehrsson S, Karlsson O, Nilsson A, Sorensen H", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "9459334", "url": "https://glygen.org/publication/PubMed/9459334" } ] }, { "title": "Novastan (brand of argatroban): a small-molecule, direct thrombin inhibitor.", "journal": "Seminars in thrombosis and hemostasis", "date": "1997", "authors": "Hursting MJ, Alford KL, Becker JC, Brooks RL, Joffrion JL, Knappenberger GD, Kogan PW, Kogan TP, McKinney AA, Schwarz RP Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "9469622", "url": "https://glygen.org/publication/PubMed/9469622" } ] }, { "title": "Biosynthesis, assembly and secretion of coagulation factor VIII.", "journal": "Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis", "date": "1997", "authors": "Kaufman RJ, Pipe SW, Tagliavacca L, Swaroop M, Moussalli M", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "9607108", "url": "https://glygen.org/publication/PubMed/9607108" } ] }, { "title": "Identification of the lectin-like receptor for oxidized low-density lipoprotein in human macrophages and its potential role as a scavenger receptor.", "journal": "The Biochemical journal", "date": "1998", "authors": "Yoshida H, Kondratenko N, Green S, Steinberg D, Quehenberger O", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "9693095", "url": "https://glygen.org/publication/PubMed/9693095" } ] }, { "title": "Ligand specificity of LOX-1, a novel endothelial receptor for oxidized low density lipoprotein.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "1998", "authors": "Moriwaki H, Kume N, Sawamura T, Aoyama T, Hoshikawa H, Ochi H, Nishi E, Masaki T, Kita T", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "9763524", "url": "https://glygen.org/publication/PubMed/9763524" } ] }, { "title": "Activation of factor VIII by thrombin increases its affinity for binding to synthetic phospholipid membranes and activated platelets.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Saenko EL, Scandella D, Yakhyaev AV, Greco NJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "9774404", "url": "https://glygen.org/publication/PubMed/9774404" } ] }, { "title": "Alternative pathway of complement: recruitment of precursor properdin by the labile C3/C5 convertase and the potentiation of the pathway.", "journal": "The Journal of experimental medicine", "date": "1976", "authors": "Medicus RG, Gotze O, Muller-Eberhard HJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "978134", "url": "https://glygen.org/publication/PubMed/978134" } ] }, { "title": "The life cycle of coagulation factor VIII in view of its structure and function.", "journal": "Blood", "date": "1998", "authors": "Lenting PJ, van Mourik JA, Mertens K", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "9834200", "url": "https://glygen.org/publication/PubMed/9834200" } ] }, { "title": "Thrombin activates factor XI on activated platelets in the absence of factor XII.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "1999", "authors": "Oliver JA, Monroe DM, Roberts HR, Hoffman M", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "9888880", "url": "https://glygen.org/publication/PubMed/9888880" } ] } ], "pathway": [ { "id": "hsa:5627", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5627", "resource": "KEGG Pathway" }, { "id": "R-HSA-114608", "name": "Platelet degranulation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608", "resource": "Reactome", "description": "Platelet degranulation" }, { "id": "R-HSA-140837", "name": "Intrinsic Pathway of Fibrin Clot Formation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837", "resource": "Reactome", "description": "Intrinsic Pathway of Fibrin Clot Formation" }, { "id": "R-HSA-140875", "name": "Common Pathway of Fibrin 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region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P07225", "url": "https://www.uniprot.org/uniprot/P07225" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P07225", "url": "https://www.uniprot.org/uniprot/P07225" } ], "pmid": "" }, { "name": "platelet alpha granule lumen", "id": "GO:0031093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031093", "evidence": [ { "database": "UniProtKB", "id": "P07225", "url": "https://www.uniprot.org/uniprot/P07225" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P07225", "url": "https://www.uniprot.org/uniprot/P07225" } ], "pmid": "" }, { "name": "blood microparticle", "id": "GO:0072562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072562", "evidence": [ { "database": "UniProtKB", "id": "P07225", "url": "https://www.uniprot.org/uniprot/P07225" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P07225", "url": "https://www.uniprot.org/uniprot/P07225" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P07225", "url": "https://www.uniprot.org/uniprot/P07225" } ], "pmid": "" }, { "name": "endopeptidase inhibitor activity", "id": "GO:0004866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004866", "evidence": [ { "database": "UniProtKB", "id": "P07225", "url": "https://www.uniprot.org/uniprot/P07225" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "response to stimulus", "id": "GO:0050896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050896", "evidence": [ { "database": "UniProtKB", "id": "P07225", "url": "https://www.uniprot.org/uniprot/P07225" } ], "pmid": "" }, { "name": "blood coagulation", "id": "GO:0007596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "database": "UniProtKB", "id": "P07225", "url": "https://www.uniprot.org/uniprot/P07225" } ], "pmid": "" }, { "name": "fibrinolysis", "id": "GO:0042730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042730", "evidence": [ { "database": "UniProtKB", "id": "P07225", "url": "https://www.uniprot.org/uniprot/P07225" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "vitamin K-dependent protein S N-glycosylated 1 (human)", "definition": "A vitamin K-dependent protein S (human) that has been N-glycosylated at the residue equivalent to Asn-530 of the amino acid sequence represented by UniProtKB:P07225-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P07225-1, Asn-530, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053642", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053642" } ] }, { "name": "vitamin K-dependent protein S O-glycosylated 1 (human)", "definition": "A vitamin K-dependent protein S (human) that has been O-glycosylated at the residue equivalent to Ser-122 of the amino acid sequence represented by UniProtKB:P07225-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P07225-1, Ser-122, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053643", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053643" } ] }, { "name": "vitamin K-dependent protein S O-glycosylated 2 (human)", "definition": "A vitamin K-dependent protein S (human) that has been O-glycosylated at the residue equivalent to Thr-104 of the amino acid sequence represented by UniProtKB:P07225-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P07225-1, Thr-104, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053644", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053644" } ] } ], "site_annotation": [ { "start_pos": 499, "end_pos": 501, "annotation": "n_glycosylation_sequon" }, { "start_pos": 509, "end_pos": 511, "annotation": "n_glycosylation_sequon" }, { "start_pos": 530, "end_pos": 532, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 499, 509, 530 ], "o_linked_sites": [ 91, 102, 104, 122, 181 ], "snv_sites": [ 76, 104, 122, 168, 181, 237, 345, 410, 501, 530, 532, 674 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 499, "end_pos": 501 }, { "start_pos": 509, "end_pos": 511 }, { "start_pos": 530, "end_pos": 532 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 7 }, { "field": "n_linked_glycans", "count": 2 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 4 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 2 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 4 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 17 }, { "field": "total_sites", "count": 12 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 8 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 269 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }