{ "uniprot_canonical_ac": "P00488-1", "uniprot_ac": "P00488", "uniprot_id": "F13A_HUMAN", "mass": { "chemical_mass": 83268.0, "monoisotopic_mass": 83268.0 }, "refseq": { "ac": "NP_000120", "name": "coagulation factor XIII A chain", "summary": "This gene encodes the coagulation factor XIII A subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. It also crosslinks alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000120" }, "gene_names": [ { "name": "F13A1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P00488", "id": "P00488" }, { "name": "F13A1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000120", "id": "NP_000120" }, { "name": "F13A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000120", "id": "NP_000120" }, { "name": "F13A", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P00488", "id": "P00488" } ], "protein_names": [ { "name": "Coagulation factor XIII A chain", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P00488" }, { "name": "2.3.2.13", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00488" }, { "name": "Coagulation factor XIIIa", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00488" }, { "name": "Protein-glutamine gamma-glutamyltransferase A chain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00488" }, { "name": "TGase; fibrin stabilizing factor, A subunit; FSF, A subunit; fibrinoligase; transglutaminase. plasma; protein-glutamine gamma-glutamyltransferase A chain; coagulation factor XIII, A polypeptide; factor XIIIa; bA525O21.1 (coagulation factor XIII, A1 polypeptide); coagulation factor XIIIa; transglutaminase A chain", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000120", "id": "NP_000120" }, { "name": "Transglutaminase A chain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00488" }, { "name": "coagulation factor XIII A chain", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000120", "id": "NP_000120" } ], "function": [ { "annotation": "Cellular FXIII in Human Macrophage-Derived Foam Cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000120", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000120" }, { "database": "PubMed", "id": "36902231", "url": "https://glygen.org/publication/PubMed/36902231" } ] }, { "annotation": "Factor XIII is activated by thrombin and calcium ion to a transglutaminase that catalyzes the formation of gamma-glutamyl-epsilon-lysine cross-links between fibrin chains, thus stabilizing the fibrin clot. Also cross-link alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin.", "evidence": [ { "database": "UniProtKB", "id": "P00488", "url": "https://www.uniprot.org/uniprot/P00488#function" }, { "database": "PubMed", "id": "27363989", "url": "https://glygen.org/publication/PubMed/27363989" } ] }, { "annotation": "Linking inflammation and angiogenesis with fibrogenesis: Expression of FXIIIA, MMP-9, and VEGF in oral submucous fibrosis.", "evidence": [ { "database": "RefSeq", "id": "NP_000120", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000120" }, { "database": "PubMed", "id": "38246706", "url": "https://glygen.org/publication/PubMed/38246706" } ] }, { "annotation": "Macrophages-derived Factor XIII links coagulation to inflammation in COPD. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000120", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000120" }, { "database": "PubMed", "id": "37180121", "url": "https://glygen.org/publication/PubMed/37180121" } ] }, { "annotation": "MicroRNA 155, Factor XIII and Type 2 Diabetes Mellitus and Coronary Heart Disease. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000120", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000120" }, { "database": "PubMed", "id": "35993471", "url": "https://glygen.org/publication/PubMed/35993471" } ] }, { "annotation": "This gene encodes the coagulation factor XIII A subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. It also crosslinks alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000120", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000120" } ] }, { "annotation": "[Gene diagnosis of a family with coagulation factor deficiency caused by large deletion of F13A1 gene].", "evidence": [ { "database": "RefSeq", "id": "NP_000120", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000120" }, { "database": "PubMed", "id": "36987725", "url": "https://glygen.org/publication/PubMed/36987725" } ] } ], "disease": [ { "disease_id": "DOID:2211", "recommended_name": { "id": "DOID:2211", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2211", "name": "factor XIII deficiency", "description": "A blood coagulation disease that is characterized by easy bleeding, has_symptom prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healing, and hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation of the F13A1 or F13B gene, which encodes Factor XIII, formally known as fibrin stabilizing factor." }, "synonyms": [ { "id": "DOID:2211", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2211", "name": "Factor XIII deficiency disease", "description": "" }, { "id": "DOID:2211", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2211", "name": "Hereditary factor XIII deficiency disease", "description": "" }, { "id": "DOID:2211", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2211", "name": "deficiency, Laki-Lorand factor", "description": "" }, { "id": "MONDO:0013190", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013190", "name": "factor XIII, b subunit, deficiency of", "description": "" }, { "id": "MONDO:0013190", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013190", "name": "factor XIII, b subunit, deficiency of", "description": "" }, { "id": "MONDO:0013190", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013190", "name": "factor XIIIB deficiency", "description": "" }, { "id": "MONDO:0013187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013187", "name": "factor XIII, A subunit, deficiency of", "description": "" }, { "id": "MONDO:0013187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013187", "name": "factor XIII, A subunit, deficiency of", "description": "" }, { "id": "MONDO:0013187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013187", "name": "factor XIIIA deficiency", "description": "" }, { "id": "MONDO:0013187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013187", "name": "hereditary factor XIII A subunit deficiency", "description": "" }, { "id": "MONDO:0013187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013187", "name": "hereditary factor XIII alpha subunit deficiency", "description": "" }, { "id": "MONDO:0013187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013187", "name": "hereditary factor XIII type II deficiency", "description": "" }, { "id": "MIM:613235", "resource": "MIM", "url": "https://www.omim.org/entry/613235", "name": "Factor XIII subunit B deficiency", "description": "Factor XIII subunit B deficiency" }, { "id": "MIM:613225", "resource": "MIM", "url": "https://www.omim.org/entry/613225", "name": "Factor XIII subunit A deficiency", "description": "Factor XIII subunit A deficiency" } ], "evidence": [ { "id": "613225", "database": "MIM", "url": "https://www.omim.org/entry/613225" } ] } ], "snv": [ { "evidence": [ { "id": "rs1472561924", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1472561924" }, { "id": "rs1472561924", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1472561924#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 221, "end_pos": 221, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IKT->NKT).", "chr_id": "6", "chr_pos": "6250839", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I221", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs868835709", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868835709" }, { "id": "rs868835709", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs868835709" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 23, "end_pos": 23, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAA->NAS).", "chr_id": "6", "chr_pos": "6318598", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A23", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770726002", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770726002" }, { "id": "rs770726002", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770726002" }, { "id": "rs770726002", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770726002" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 347, "end_pos": 347, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDA->NDT).", "chr_id": "6", "chr_pos": "6222106", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A347", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1280546712", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1280546712" }, { "id": "rs1280546712", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1280546712" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 457, "end_pos": 457, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DAT->NAT).", "chr_id": "6", "chr_pos": "6182078", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D457", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778389185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778389185" }, { "id": "rs778389185", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778389185" }, { "id": "rs778389185", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778389185#frequency_tab" }, { "id": "rs778389185", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778389185" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 535, "end_pos": 535, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KLS->NLS).", "chr_id": "6", "chr_pos": "6174722", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K535", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201444282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201444282" }, { "id": "rs201444282", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201444282" }, { "id": "rs201444282", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201444282" }, { "id": "rs201444282", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201444282" }, { "id": "22895193", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22895193" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 575, "end_pos": 575, "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DVT->NVT).", "chr_id": "6", "chr_pos": "6174604", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D575", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1213983804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1213983804" }, { "id": "rs1213983804", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1213983804" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 614, "end_pos": 614, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->SET).", "chr_id": "6", "chr_pos": "6167525", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N614", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "83.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124491", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124491" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "89.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124491", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124491" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "94.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124491", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124491" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "78.32", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124491", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124491" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124491", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124491" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "93.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124491", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124491" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "84.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124491", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124491" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "93.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124491", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124491" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "79.48", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124491", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124491" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "88.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124491", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124491" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "74.87", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124491", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124491" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "77.3", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124491", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124491" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "86.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124491", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124491" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P00488", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00488" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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}, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P00488", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00488" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P00488", "url": 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"url": "http://pfam.xfam.org/family/PF00868", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00927", "url": "http://pfam.xfam.org/family/PF00927", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01841", "url": "http://pfam.xfam.org/family/PF01841", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P00488", "url": "https://pharos.nih.gov/targets/P00488", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P00488", "url": "http://purl.obolibrary.org/obo/PR_P00488", "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-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000120", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000120", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "54816", "url": "https://www.rhea-db.org/rhea/54816", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A6PVK5", "url": "https://www.uniprot.org/uniprot/A6PVK5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6PVK5-1", "url": "https://www.uniprot.org/uniprot/A6PVK5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y4W5", "url": "https://www.uniprot.org/uniprot/H0Y4W5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y4W5-1", "url": "https://www.uniprot.org/uniprot/H0Y4W5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y796", "url": "https://www.uniprot.org/uniprot/H0Y796", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y796-1", "url": "https://www.uniprot.org/uniprot/H0Y796-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P00488", "url": "https://www.uniprot.org/uniprot/P00488", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P00488-1", "url": "https://www.uniprot.org/uniprot/P00488-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9NQP5", "url": "https://www.uniprot.org/uniprot/Q9NQP5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9NQP5-1", "url": "https://www.uniprot.org/uniprot/Q9NQP5-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSETSRTAFGGRRAVPPNNSNAAEDDLPTVELQGVVPRGVNLQEFLNVTSVHLFKERWDTNKVDHHTDKYENNKLIVRRGQSFYVQIDFSRPYDPRRDLFRVEYVIGRYPQENKGTYIPVPIVSELQSGKWGAKIVMREDRSVRLSIQSSPKCIVGKFRMYVAVWTPYGVLRTSRNPETDTYILFNPWCEDDAVYLDNEKEREEYVLNDIGVIFYGEVNDIKTRSWSYGQFEDGILDTCLYVMDRAQMDLSGRGNPIKVSRVGSAMVNAKDDEGVLVGSWDNIYAYGVPPSAWTGSVDILLEYRSSENPVRYGQCWVFAGVFNTFLRCLGIPARIVTNYFSAHDNDANLQMDIFLEEDGNVNSKLTKDSVWNYHCWNEAWMTRPDLPVGFGGWQAVDSTPQENSDGMYRCGPASVQAIKHGHVCFQFDAPFVFAEVNSDLIYITAKKDGTHVVENVDATHIGKLIVTKQIGGDGMMDITDTYKFQEGQEEERLALETALMYGAKKPLNTEGVMKSRSNVDMDFEVENAVLGKDFKLSITFRNNSHNRYTITAYLSANITFYTGVPKAEFKKETFDVTLEPLSFKKEAVLIQAGEYMGQLLEQASLHFFVTARINETRDVLAKQKSTVLTIPEIIIKVRGTQVVGSDMTVTVEFTNPLKETLRNVWVHLDGPGVTRPMKKMFREIRPNSTVQWEEVCRPWVSGHRKLIASMSSDSLRHVYGELDVQIQRRPSM", "length": 732, "header": "sp|P00488-1|F13A_HUMAN Isoform 1 of Coagulation factor XIII A chain OS=Homo sapiens OX=9606 GN=F13A1 PE=1 SV=5 CANONICAL=P00488-1" }, "isoforms": [ { "isoform_ac": "A6PVK5-1", "url": "", "sequence": { "sequence": "MGNWESEGQVGEKGAPAGITGQMNPFEEVPEAHRASPREGTSGGERLQDLVKSKMSETSRTAFGGRRAVPPNNSNAAEDDLPTVELQGVVPRGVNLQEFLNVTSVHLFKERWDTNKVDHHTDKYENNKLIVRRGQSFYVQIDFSRPYDPRRDLFRVEYVIGRYPQENKGTYIPVPIVSELQSGKW", "length": 185, "header": "tr|A6PVK5-1|F13A_HUMAN Computationally mapped isoform of Coagulation factor XIII A chain OS=Homo sapiens OX=9606 GN=F13A1 PE=1 SV=9 CANONICAL=P00488-1" }, "locus": { "chromosome": "6", "start_pos": 6320870, "end_pos": 6266736, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000431222.6", "url": "https://www.ensembl.org/id/ENST00000431222.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000416295.2", "url": "https://www.ensembl.org/id/ENSP00000416295.2" } ] } }, { "isoform_ac": "H0Y4W5-1", "url": "", "sequence": { "sequence": "XAYGVPPSAWTGSVDILLEYRSSENPVRYGQCWVFAGVFNTFLRCLGIPARIVTNYFSAHDNDANLQMDIFLEEDGNVNSKLTKDSVWYPSIPAAGMSPKSA", "length": 102, "header": "tr|H0Y4W5-1|F13A_HUMAN Computationally mapped isoform of Coagulation factor XIII A chain OS=Homo sapiens OX=9606 GN=F13A1 PE=1 SV=1 CANONICAL=P00488-1" }, "locus": { "chromosome": "6", "start_pos": 6224808, "end_pos": 6206559, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000445223.1", "url": "https://www.ensembl.org/id/ENST00000445223.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000394693.1", "url": "https://www.ensembl.org/id/ENSP00000394693.1" } ] } }, { "isoform_ac": "H0Y796-1", "url": "", "sequence": { "sequence": "XEAHRASPREGTSGGERLQDLVKSKMSETSRTAFGGRRAVPPNNSNAAEDDLPTVELQGVVPRGVNLQEFLNVTSVHLFKERWDTNKVDHHTDKYENNKLIVRRGQSFYVQIDFSRPYDPRRDLFRVEYVIGECHVQAPVLTPWVAL", "length": 147, "header": "tr|H0Y796-1|F13A_HUMAN Computationally mapped isoform of Coagulation factor XIII A chain OS=Homo sapiens OX=9606 GN=F13A1 PE=1 SV=1 CANONICAL=P00488-1" }, "locus": { "chromosome": "6", "start_pos": 6320642, "end_pos": 6305303, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000451619.1", "url": "https://www.ensembl.org/id/ENST00000451619.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000411114.1", "url": "https://www.ensembl.org/id/ENSP00000411114.1" } ] } }, { "isoform_ac": "P00488-1", "url": "", "sequence": { "sequence": "MSETSRTAFGGRRAVPPNNSNAAEDDLPTVELQGVVPRGVNLQEFLNVTSVHLFKERWDTNKVDHHTDKYENNKLIVRRGQSFYVQIDFSRPYDPRRDLFRVEYVIGRYPQENKGTYIPVPIVSELQSGKWGAKIVMREDRSVRLSIQSSPKCIVGKFRMYVAVWTPYGVLRTSRNPETDTYILFNPWCEDDAVYLDNEKEREEYVLNDIGVIFYGEVNDIKTRSWSYGQFEDGILDTCLYVMDRAQMDLSGRGNPIKVSRVGSAMVNAKDDEGVLVGSWDNIYAYGVPPSAWTGSVDILLEYRSSENPVRYGQCWVFAGVFNTFLRCLGIPARIVTNYFSAHDNDANLQMDIFLEEDGNVNSKLTKDSVWNYHCWNEAWMTRPDLPVGFGGWQAVDSTPQENSDGMYRCGPASVQAIKHGHVCFQFDAPFVFAEVNSDLIYITAKKDGTHVVENVDATHIGKLIVTKQIGGDGMMDITDTYKFQEGQEEERLALETALMYGAKKPLNTEGVMKSRSNVDMDFEVENAVLGKDFKLSITFRNNSHNRYTITAYLSANITFYTGVPKAEFKKETFDVTLEPLSFKKEAVLIQAGEYMGQLLEQASLHFFVTARINETRDVLAKQKSTVLTIPEIIIKVRGTQVVGSDMTVTVEFTNPLKETLRNVWVHLDGPGVTRPMKKMFREIRPNSTVQWEEVCRPWVSGHRKLIASMSSDSLRHVYGELDVQIQRRPSM", "length": 732, "header": "sp|P00488-1|F13A_HUMAN Isoform 1 of Coagulation factor XIII A chain OS=Homo sapiens OX=9606 GN=F13A1 PE=1 SV=5 CANONICAL=P00488-1" }, "locus": { "chromosome": "6", "start_pos": 6318664, "end_pos": 6145622, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000264870.8", "url": "https://www.ensembl.org/id/ENST00000264870.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000264870.3", "url": "https://www.ensembl.org/id/ENSP00000264870.3" } ] } }, { "isoform_ac": "Q9NQP5-1", "url": "", "sequence": { "sequence": "MSETSRTAFGGRRAVPPNNSNAAEDDLPTVELQGVVPRGVNLQEFLNVTSVHLFKERWDTNKVDHHTDKYENNKLIVRRGQSFYVQIDFSRPYDPRRDLFRVEYVIGRYPQENKGTYIPVPIVSELQSGKWGAKIVMR", "length": 138, "header": "tr|Q9NQP5-1|F13A_HUMAN Computationally mapped isoform of Coagulation factor XIII A chain OS=Homo sapiens OX=9606 GN=F13A1 PE=1 SV=2 CANONICAL=P00488-1" }, "locus": { "chromosome": "6", "start_pos": 6318664, "end_pos": 6266715, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000414279.5", "url": "https://www.ensembl.org/id/ENST00000414279.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000413334.1", "url": "https://www.ensembl.org/id/ENSP00000413334.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 614, "start_aa": "Asn", "end_pos": 614, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn614", "evidence": [ { "id": "P00488", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00488#ptm_processing" }, { "id": "16335952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P00488", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P00488" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Constitutive activation of Stat3 signaling confers resistance to apoptosis in human U266 myeloma cells.", "journal": "Immunity", "date": "1999", "authors": "Catlett-Falcone R, Landowski TH, Oshiro MM, Turkson J, Levitzki A, Savino R, Ciliberto G, Moscinski L, Fernandez-Luna JL, Nunez G, Dalton WS, Jove R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "10023775", "url": "https://glygen.org/publication/PubMed/10023775" } ] }, { "title": "Relocating the active site of activated protein C eliminates the need for its protein S cofactor. A fluorescence resonance energy transfer study.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Yegneswaran S, Smirnov MD, Safa O, Esmon NL, Esmon CT, Johnson AE", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "10026158", "url": "https://glygen.org/publication/PubMed/10026158" } ] }, { "title": "Crystal structure of the interleukin-4/receptor alpha chain complex reveals a mosaic binding interface.", "journal": "Cell", "date": "1999", "authors": "Hage T, Sebald W, Reinemer P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "10219247", "url": "https://glygen.org/publication/PubMed/10219247" } ] }, { "title": "Regulation of the germline immunoglobulin Cgamma1 promoter by CD40 ligand and IL-4: dual role for 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gene under heat shock.", "journal": "Journal of cellular biochemistry", "date": "2007", "authors": "Chen XS, Zhang Y, Wang JS, Li XY, Cheng XK, Zhang Y, Wu NH, Shen YF", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "17427945", "url": "https://glygen.org/publication/PubMed/17427945" } ] }, { "title": "IL-13 induces expression of CD36 in human monocytes through PPARgamma activation.", "journal": "European journal of immunology", "date": "2007", "authors": "Berry A, Balard P, Coste A, Olagnier D, Lagane C, Authier H, Benoit-Vical F, Lepert JC, Seguela JP, Magnaval JF, Chambon P, Metzger D, Desvergne B, Wahli W, Auwerx J, Pipy B", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "17458857", "url": 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the transcription factor STAT3 contribute to T cell pathogenicity and homeostasis.", "journal": "Immunity", "date": "2010", "authors": "Durant L, Watford WT, Ramos HL, Laurence A, Vahedi G, Wei L, Takahashi H, Sun HW, Kanno Y, Powrie F, O'Shea JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "20493732", "url": "https://glygen.org/publication/PubMed/20493732" } ] }, { "title": "STAT3-induced S1PR1 expression is crucial for persistent STAT3 activation in tumors.", "journal": "Nature medicine", "date": "2010", "authors": "Lee H, Deng J, Kujawski M, Yang C, Liu Y, Herrmann A, Kortylewski M, Horne D, Somlo G, Forman S, Jove R, Yu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "21102457", "url": 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U.S.A.", "date": "1994", "authors": "Yee V C, Pedersen L C, Le Trong I, Bishop P D, Stenkamp R E, Teller D C", "evidence": [ { "database": "UniProtKB", "id": "P00488", "url": "https://www.uniprot.org/uniprot/P00488" } ], "reference": [ { "type": "PubMed", "id": "7913750", "url": "https://glygen.org/publication/PubMed/7913750" } ] }, { "title": "Molecular basis for subtypic differences of the `a` subunit of coagulation factor XIII with description of the genesis of the subtypes.", "journal": "Human genetics", "date": "1994", "authors": "Suzuki K, Iwata M, Ito S, Matsui K, Uchida A, Mizoi Y", "evidence": [ { "database": "UniProtKB", "id": "P00488", "url": "https://www.uniprot.org/uniprot/P00488" } ], "reference": [ { "type": "PubMed", "id": "7913909", "url": "https://glygen.org/publication/PubMed/7913909" } ] }, { "title": "An interleukin-4-induced transcription factor: IL-4 Stat.", "journal": "Science (New York, N.Y.)", "date": "1994", "authors": "Hou J, Schindler U, Henzel WJ, Ho TC, Brasseur M, McKnight SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "8085155", "url": "https://glygen.org/publication/PubMed/8085155" } ] }, { "title": "Factor IXa protects factor VIIIa from activated protein C. Factor IXa inhibits activated protein C-catalyzed cleavage of factor VIIIa at Arg562.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Regan LM, Lamphear BJ, Huggins CF, Walker FJ, Fay PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "8144529", "url": "https://glygen.org/publication/PubMed/8144529" } ] }, { "title": "Platelet alpha-granules.", "journal": "Blood reviews", "date": "1993", "authors": "Harrison P, Cramer EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "8467233", "url": "https://glygen.org/publication/PubMed/8467233" } ] }, { "title": "Essential role of Stat6 in IL-4 signalling.", "journal": "Nature", "date": "1996", "authors": "Takeda K, Tanaka T, Shi W, Matsumoto M, Minami M, Kashiwamura S, Nakanishi K, Yoshida N, Kishimoto T, Akira S", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "8602263", "url": "https://glygen.org/publication/PubMed/8602263" } ] }, { "title": "STAT3 participates in transcriptional activation of the C-reactive protein gene by interleukin-6.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Zhang D, Sun M, Samols D, Kushner I", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "8621622", "url": "https://glygen.org/publication/PubMed/8621622" } ] }, { "title": "Cloning and characterization of a specific interleukin (IL)-13 binding protein structurally related to the IL-5 receptor alpha chain.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Caput D, Laurent P, Kaghad M, Lelias JM, Lefort S, Vita N, Ferrara P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "8663118", "url": "https://glygen.org/publication/PubMed/8663118" } ] }, { "title": "The lipopolysaccharide-binding protein is a secretory class 1 acute-phase protein whose gene is transcriptionally activated by APRF/STAT/3 and other cytokine-inducible nuclear proteins.", "journal": "Molecular and cellular biology", "date": "1996", "authors": "Schumann RR, Kirschning CJ, Unbehaun A, Aberle HP, Knope HP, Lamping N, Ulevitch RJ, Herrmann F", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "8668165", "url": "https://glygen.org/publication/PubMed/8668165" } ] }, { "title": "Global and local determinants for the kinetics of interleukin-4/interleukin-4 receptor alpha chain interaction. A biosensor study employing recombinant interleukin-4-binding protein.", "journal": "European journal of biochemistry", "date": "1996", "authors": "Shen BJ, Hage T, Sebald W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "8797861", "url": "https://glygen.org/publication/PubMed/8797861" } ] }, { "title": "Requirements for interleukin-4-induced gene expression and functional characterization of Stat6.", "journal": "Molecular and cellular biology", "date": "1996", "authors": "Mikita T, Campbell D, Wu P, Williamson K, Schindler U", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "8816495", "url": "https://glygen.org/publication/PubMed/8816495" } ] }, { "title": "Cloning of the human IL-13R alpha1 chain and reconstitution with the IL4R alpha of a functional IL-4/IL-13 receptor complex.", "journal": "FEBS letters", "date": "1997", "authors": "Miloux B, Laurent P, Bonnin O, Lupker J, Caput D, Vita N, Ferrara P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "9013879", "url": "https://glygen.org/publication/PubMed/9013879" } ] }, { "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": "Two non-proline cis peptide bonds may be important for factor XIII function.", "journal": "FEBS Lett.", "date": "1998", "authors": "Weiss M S, Metzner H J, Hilgenfeld R", "evidence": [ { "database": "UniProtKB", "id": "P00488", "url": "https://www.uniprot.org/uniprot/P00488" } ], "reference": [ { "type": "PubMed", "id": "9515726", "url": "https://glygen.org/publication/PubMed/9515726" } ] }, { "title": "Mutational analysis of the STAT6 SH2 domain.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Mikita T, Daniel C, Wu P, Schindler U", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "9651359", "url": "https://glygen.org/publication/PubMed/9651359" } ] }, { "title": "The role of IL-13 and its receptor in allergy and inflammatory responses.", "journal": "The Journal of allergy and clinical immunology", "date": "1998", "authors": "de Vries JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": 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"Kangsadalampai S, Board PG", "evidence": [ { "database": "UniProtKB", "id": "P00488", "url": "https://www.uniprot.org/uniprot/P00488" } ], "reference": [ { "type": "PubMed", "id": "9763561", "url": "https://glygen.org/publication/PubMed/9763561" } ] }, { "title": "Induction of 15-lipoxygenase expression by IL-13 requires tyrosine phosphorylation of Jak2 and Tyk2 in human monocytes.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Roy B, Cathcart MK", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "9822675", "url": "https://glygen.org/publication/PubMed/9822675" } ] }, { "title": "STAT3 is required for the gp130-mediated full activation of the c-myc gene.", "journal": "The Journal of experimental medicine", "date": "1999", "authors": "Kiuchi N, Nakajima K, Ichiba M, Fukada T, Narimatsu M, Mizuno K, Hibi M, Hirano T", "evidence": [ 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Biol. Chem.", "date": "1999", "authors": "Fox BA, Yee VC, Pedersen LC, Le Trong I, Bishop PD, Stenkamp RE, Teller DC", "evidence": [ { "database": "UniProtKB", "id": "P00488", "url": "https://www.uniprot.org/uniprot/P00488" } ], "reference": [ { "type": "PubMed", "id": "9988734", "url": "https://glygen.org/publication/PubMed/9988734" } ] } ], "pathway": [ { "id": "hsa:2162", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2162", "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-140875", "name": "Common Pathway of Fibrin Clot Formation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875", "resource": "Reactome", "description": "Common Pathway of Fibrin Clot Formation" }, { "id": "R-HSA-6785807", "name": "Interleukin-4 and Interleukin-13 signaling", "url": 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gamma-glutamyltransferase activity", "id": "GO:0003810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003810", "evidence": [ { "database": "UniProtKB", "id": "P00488", "url": "https://www.uniprot.org/uniprot/P00488" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "blood coagulation", "id": "GO:0007596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "database": "UniProtKB", "id": "P00488", "url": "https://www.uniprot.org/uniprot/P00488" } ], "pmid": "" }, { "name": "peptide cross-linking", "id": "GO:0018149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018149", "evidence": [ { "database": "UniProtKB", "id": "P00488", "url": "https://www.uniprot.org/uniprot/P00488" } ], "pmid": "" }, { "name": "blood coagulation, fibrin clot formation", "id": "GO:0072378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072378", "evidence": [ { "database": "UniProtKB", "id": "P00488", "url": "https://www.uniprot.org/uniprot/P00488" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 18, "end_pos": 20, "annotation": "n_glycosylation_sequon" }, { "start_pos": 47, "end_pos": 49, "annotation": "n_glycosylation_sequon" }, { "start_pos": 542, "end_pos": 544, "annotation": "n_glycosylation_sequon" }, { "start_pos": 557, "end_pos": 559, "annotation": "n_glycosylation_sequon" }, { "start_pos": 614, "end_pos": 616, "annotation": "n_glycosylation_sequon" }, { "start_pos": 687, "end_pos": 689, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "54816", "name": "", "equation": "L-glutaminyl-[protein] + L-lysyl-[protein] = [protein]-L-lysyl-N(6)-5-L-glutamyl-[protein] + NH4(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P23606-1", "Q99041-1", "D4A5U3-1", "O08619-1", "Q9WVJ6-1", "P00488-1", "P49221-1", "P21980-1", "Q96PF1-1", "O95932-1", "Q08188-1", "O43548-1", "P22735-1", "Q8BH61-1", "P21981-1", "Q8BZH1-1", "Q08189-1", "Q9JLF6-1", "Q9D7I9-1" ], "evidence": [ { "id": "54816", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/54816" } ] }, { "id": "R-HSA-140599", "name": "factor XIII -> factor XIII cleaved tetramer + 2 factor XIII A activation peptides", "equation": "", "summary": "Activated thrombin cleaves the A chains of factor XIII tetramers in a reaction stimulated by the presence of fibrin multimers (Lewis et al. 1985). The amino terminal portions of the A chains are released as activation peptides, which have no known function. The resulting factor XIII tetramer remains catalytically inactive.", "cellular_location": "extracellular region", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P04070-1", "P00734-1", "P00488-1" ], "evidence": [ { "id": "R-HSA-140599", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140599" } ] }, { "id": "R-HSA-140847", "name": "factor XIII cleaved tetramer + 2 Ca++ -> factor XIIIa + 2 factor XIII B chain", "equation": "", "summary": "Once the A chains of the Factor XIII tetramer have been cleaved by thrombin, the complex dissociates and the resulting A chain dimer binds Ca++ (one per peptide monomer) to form activated factor XIII (factor XIIIa).", "cellular_location": "extracellular region", "input_participant_list": [], "output_participant_list": [ "R-HSA-140605" ], "enzyme_list": [ "P00488-1" ], "evidence": [ { "id": "R-HSA-140847", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140847" } ] }, { "id": "R-HSA-140851", "name": "fibrin multimer -> fibrin multimer, crosslinked + NH4+", "equation": "", "summary": "Fibrin multimers are stabilized by the formation of multiple covalent crosslinks between the side chains of specific lysine and glutamine residues in fibrinogen alpha and gamma chains, catalyzed by factor XIIIa.", "cellular_location": "extracellular region", "input_participant_list": [ "R-HSA-139933" ], "output_participant_list": [ "R-ALL-157771" ], "enzyme_list": [ "P00488-1" ], "evidence": [ { "id": "R-HSA-140851", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140851" } ] }, { "id": "R-HSA-481007", "name": "Exocytosis of platelet alpha granule contents", "equation": "", "summary": "Alpha granules contain mainly polypeptides such as fibrinogen, von Willebrand factor, growth factors and protease inhibitors that supplement thrombin generation at the site of injury. In addtion to their role in hemostasis, platelets also contain angiogenesis stimulators and inhibitors (Italiano et al. 2008).", "cellular_location": "plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00747-1", "P04075-1", "Q8NBM8-1", "Q8NBX0-1", "P00746-1", "P00488-1", "O00391-1" ], "evidence": [ { "id": "R-HSA-481007", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-481007" } ] }, { "id": "R-HSA-6785895", "name": "Expression of IL4, IL13-upregulated extracellular proteins", "equation": "", "summary": "In human peripheral blood monocytes IL4 and IL13 significantly upregulate the levels of several extracellular proteins involved in inflammatory resolution including fibronectin (FN1), coagulation factor XIII (FXIII), annexin 1 (ANXA1), collagen type 1 alpha 2 (COL1A2), laminin alpha-5 (LAMA5) and C-C motif chemokine 22 (CCL22) (Chaitidis et al. 2005, Jinnin et al. 2004, Yakubenko et al. 2011).", "cellular_location": "extracellular region, nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00488-1" ], "evidence": [ { "id": "R-HSA-6785895", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785895" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-157771", "participant_name": "fibrin multimer, crosslinked [extracellular region]", "crossref": [ { "id": "36080", "database": "ChEBI", "url": "" }, { "id": "36080", "database": "ChEBI", "url": "" }, { "id": "36080", "database": "ChEBI", "url": "" }, { "id": "36080", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-HSA-139933", "participant_name": "fibrin multimer [extracellular region]", "crossref": [ { "id": "CPX-6230", "database": "ComplexPortal", "url": "" } ] }, { "participant_id": "R-HSA-140605", "participant_name": "F13B [extracellular region]", "crossref": [ { "id": "ENSG00000143278", "database": "Ensembl", "url": "" }, { "id": "ENSG00000143278", "database": "OpenTargets", "url": "" }, { "id": "16012", "database": "Orphanet", "url": "" }, { "id": "ENSP00000356382", "database": "Ensembl", "url": "" }, { "id": "ENST00000367412", "database": "Ensembl", "url": "" }, { "id": "P05160", "database": "Pharos - Targets", "url": "" }, { "id": "P05160", "database": "GeneCards", "url": "" }, { "id": "P05160", "database": "PRO", "url": "" }, { "id": "P05160", "database": "UniProt", "url": "" }, { "id": "ENSG00000143278-F13B", "database": "HPA", "url": "" }, { "id": "NP_001985.2", "database": "RefSeq", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "D4A5U3", "gene_name": "Tgm3", "activity": [ { "ec_number": "2.3.2.13", "activity": "L-glutaminyl-[protein] + L-lysyl-[protein] = [protein]-L-lysyl-N(6)-5-L-glutamyl-[protein] + NH4(+).", "evidence": [ { "id": "D4A5U3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A5U3" } ] }, { "ec_number": "2.3.2.13", "activity": "", "evidence": [ { "id": "D4A5U3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A5U3" } ] } ] }, { "uniprot_ac": "O00391", "gene_name": "QSOX1", "activity": [ { "ec_number": "1.8.3.2", "activity": "O2 + 2 R'C(R)SH = H2O2 + R'C(R)S-S(R)CR'.", "evidence": [ { "id": "O00391", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00391" } ] }, { "ec_number": "1.8.3.2", "activity": "", "evidence": [ { "id": "O00391", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00391" } ] } ] }, { "uniprot_ac": "O08619", "gene_name": "F13a1", "activity": [ { "ec_number": "2.3.2.13", "activity": "L-glutaminyl-[protein] + L-lysyl-[protein] = [protein]-L-lysyl-N(6)-5-L-glutamyl-[protein] + NH4(+).", "evidence": [ { "id": "O08619", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O08619" } ] }, { "ec_number": "2.3.2.13", "activity": "", "evidence": [ { "id": "O08619", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O08619" } ] } ] }, { "uniprot_ac": "O43548", "gene_name": "TGM5", "activity": [ { "ec_number": "2.3.2.13", "activity": "L-glutaminyl-[protein] + L-lysyl-[protein] = [protein]-L-lysyl-N(6)-5-L-glutamyl-[protein] + NH4(+).", "evidence": [ { "id": "O43548", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43548" } ] }, { "ec_number": "2.3.2.13", "activity": "", "evidence": [ { "id": "O43548", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43548" } ] } ] }, { "uniprot_ac": "O95932", "gene_name": "TGM6", "activity": [ { "ec_number": "2.3.2.13", "activity": "L-glutaminyl-[protein] + L-lysyl-[protein] = [protein]-L-lysyl-N(6)-5-L-glutamyl-[protein] + NH4(+).", "evidence": [ { "id": "O95932", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95932" } ] }, { "ec_number": "2.3.2.13", "activity": "", "evidence": [ { "id": "O95932", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95932" } ] } ] }, { "uniprot_ac": "P00488", "gene_name": "F13A1", "activity": [ { "ec_number": "2.3.2.13", "activity": "L-glutaminyl-[protein] + L-lysyl-[protein] = [protein]-L-lysyl-N(6)-5-L-glutamyl-[protein] + NH4(+).", "evidence": [ { "id": "P00488", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00488" } ] }, { "ec_number": "2.3.2.13", "activity": "", "evidence": [ { "id": "P00488", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00488" } ] } ] }, { "uniprot_ac": "P00734", "gene_name": "F2", "activity": [ { "ec_number": "3.4.21.5", "activity": "Selective cleavage of Arg-|-Gly bonds in fibrinogen to form fibrin and release fibrinopeptides A and B.", "evidence": [ { "id": "P00734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00734" } ] }, { "ec_number": "3.4.21.5", "activity": "", "evidence": [ { "id": "P00734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00734" } ] } ] }, { "uniprot_ac": "P00746", "gene_name": "CFD", "activity": [ { "ec_number": "3.4.21.46", "activity": "Selective cleavage of Arg-|-Lys bond in complement factor B when in complex with complement subcomponent C3b or with cobra venom factor.", "evidence": [ { "id": "P00746", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00746" } ] }, { "ec_number": "3.4.21.46", "activity": "", "evidence": [ { "id": "P00746", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00746" } ] } ] }, { "uniprot_ac": "P00747", "gene_name": "PLG", "activity": [ { "ec_number": "3.4.21.7", "activity": "Preferential cleavage: Lys-|-Xaa > Arg-|-Xaa, higher selectivity than trypsin. Converts fibrin into soluble products.", "evidence": [ { "id": "P00747", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00747" } ] }, { "ec_number": "3.4.21.7", "activity": "", "evidence": [ { "id": "P00747", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00747" } ] } ] }, { "uniprot_ac": "P04070", "gene_name": "PROC", "activity": [ { "ec_number": "3.4.21.69", "activity": "Degradation of blood coagulation factors Va and VIIIa.", "evidence": [ { "id": "P04070", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04070" } ] }, { "ec_number": "3.4.21.69", "activity": "", "evidence": [ { "id": "P04070", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04070" } ] } ] }, { "uniprot_ac": "P04075", "gene_name": "ALDOA", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "P04075", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04075" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P04075", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04075" } ] } ] }, { "uniprot_ac": "P21980", "gene_name": "TGM2", "activity": [ { "ec_number": "3.4.-.-", "activity": "", "evidence": [ { "id": "P21980", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P21980" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "P21980", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P21980" } ] }, { "ec_number": "2.3.2.13", "activity": "L-glutaminyl-[protein] + L-lysyl-[protein] = [protein]-L-lysyl-N(6)-5-L-glutamyl-[protein] + NH4(+).", "evidence": [ { "id": "P21980", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P21980" } ] }, { "ec_number": "3.5.1.44", "activity": "H2O + L-glutaminyl-[protein] = L-glutamyl-[protein] + NH4(+).", "evidence": [ { "id": "P21980", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P21980" } ] }, { "ec_number": "2.3.2.13", "activity": "", "evidence": [ { "id": "P21980", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P21980" } ] } ] }, { "uniprot_ac": "P21981", "gene_name": "Tgm2", "activity": [ { "ec_number": "3.4.-.-", "activity": "", "evidence": [ { "id": "P21981", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P21981" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "P21981", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P21981" } ] }, { "ec_number": "2.3.2.13", "activity": "L-glutaminyl-[protein] + L-lysyl-[protein] = [protein]-L-lysyl-N(6)-5-L-glutamyl-[protein] + NH4(+).", "evidence": [ { "id": "P21981", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P21981" } ] }, { "ec_number": "3.5.1.44", "activity": "H2O + L-glutaminyl-[protein] = L-glutamyl-[protein] + NH4(+).", "evidence": [ { "id": "P21981", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P21981" } ] }, { "ec_number": "2.3.2.13", "activity": "", "evidence": [ { "id": "P21981", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P21981" } ] } ] }, { "uniprot_ac": "P22735", "gene_name": "TGM1", "activity": [ { "ec_number": "2.3.2.13", "activity": "L-glutaminyl-[protein] + L-lysyl-[protein] = [protein]-L-lysyl-N(6)-5-L-glutamyl-[protein] + NH4(+).", "evidence": [ { "id": "P22735", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22735" } ] }, { "ec_number": "2.3.2.13", "activity": "", "evidence": [ { "id": "P22735", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22735" } ] } ] }, { "uniprot_ac": "P23606", "gene_name": "Tgm1", "activity": [ { "ec_number": "2.3.2.13", "activity": "L-glutaminyl-[protein] + L-lysyl-[protein] = [protein]-L-lysyl-N(6)-5-L-glutamyl-[protein] + NH4(+).", "evidence": [ { "id": "P23606", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23606" } ] }, { "ec_number": "2.3.2.13", "activity": "", "evidence": [ { "id": "P23606", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23606" } ] } ] }, { "uniprot_ac": "P49221", "gene_name": "TGM4", "activity": [ { "ec_number": "2.3.2.13", "activity": "L-glutaminyl-[protein] + L-lysyl-[protein] = [protein]-L-lysyl-N(6)-5-L-glutamyl-[protein] + NH4(+).", "evidence": [ { "id": "P49221", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49221" } ] }, { "ec_number": "2.3.2.13", "activity": "", "evidence": [ { "id": "P49221", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49221" } ] } ] }, { "uniprot_ac": "Q08188", "gene_name": "TGM3", "activity": [ { "ec_number": "2.3.2.13", "activity": "L-glutaminyl-[protein] + L-lysyl-[protein] = [protein]-L-lysyl-N(6)-5-L-glutamyl-[protein] + NH4(+).", "evidence": [ { "id": "Q08188", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q08188" } ] }, { "ec_number": "2.3.2.13", "activity": "", "evidence": [ { "id": "Q08188", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q08188" } ] } ] }, { "uniprot_ac": "Q08189", "gene_name": "Tgm3", "activity": [ { "ec_number": "2.3.2.13", "activity": "L-glutaminyl-[protein] + L-lysyl-[protein] = [protein]-L-lysyl-N(6)-5-L-glutamyl-[protein] + NH4(+).", "evidence": [ { "id": "Q08189", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q08189" } ] }, { "ec_number": "2.3.2.13", "activity": "", "evidence": [ { "id": "Q08189", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q08189" } ] } ] }, { "uniprot_ac": "Q8BH61", "gene_name": "F13a1", "activity": [ { "ec_number": "2.3.2.13", "activity": "L-glutaminyl-[protein] + L-lysyl-[protein] = [protein]-L-lysyl-N(6)-5-L-glutamyl-[protein] + NH4(+).", "evidence": [ { "id": "Q8BH61", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BH61" } ] }, { "ec_number": "2.3.2.13", "activity": "", "evidence": [ { "id": "Q8BH61", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BH61" } ] } ] }, { "uniprot_ac": "Q8BZH1", "gene_name": "Tgm4", "activity": [ { "ec_number": "2.3.2.13", "activity": "L-glutaminyl-[protein] + L-lysyl-[protein] = [protein]-L-lysyl-N(6)-5-L-glutamyl-[protein] + NH4(+).", "evidence": [ { "id": "Q8BZH1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BZH1" } ] }, { "ec_number": "2.3.2.13", "activity": "", "evidence": [ { "id": "Q8BZH1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BZH1" } ] } ] }, { "uniprot_ac": "Q8NBM8", "gene_name": "PCYOX1L", "activity": [ { "ec_number": "1.8.3.-", "activity": "", "evidence": [ { "id": "Q8NBM8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBM8" } ] } ] }, { "uniprot_ac": "Q8NBX0", "gene_name": "SCCPDH", "activity": [ { "ec_number": "1.-.-.-", "activity": "", "evidence": [ { "id": "Q8NBX0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBX0" } ] } ] }, { "uniprot_ac": "Q96PF1", "gene_name": "TGM7", "activity": [ { "ec_number": "2.3.2.13", "activity": "L-glutaminyl-[protein] + L-lysyl-[protein] = [protein]-L-lysyl-N(6)-5-L-glutamyl-[protein] + NH4(+).", "evidence": [ { "id": "Q96PF1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96PF1" } ] } ] }, { "uniprot_ac": "Q99041", "gene_name": "Tgm4", "activity": [ { "ec_number": "2.3.2.13", "activity": "L-glutaminyl-[protein] + L-lysyl-[protein] = [protein]-L-lysyl-N(6)-5-L-glutamyl-[protein] + NH4(+).", "evidence": [ { "id": "Q99041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99041" } ] }, { "ec_number": "2.3.2.13", "activity": "", "evidence": [ { "id": "Q99041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99041" } ] } ] }, { "uniprot_ac": "Q9D7I9", "gene_name": "Tgm5", "activity": [ { "ec_number": "2.3.2.13", "activity": "L-glutaminyl-[protein] + L-lysyl-[protein] = [protein]-L-lysyl-N(6)-5-L-glutamyl-[protein] + NH4(+).", "evidence": [ { "id": "Q9D7I9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9D7I9" } ] }, { "ec_number": "2.3.2.13", "activity": "", "evidence": [ { "id": "Q9D7I9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9D7I9" } ] } ] }, { "uniprot_ac": "Q9JLF6", "gene_name": "Tgm1", "activity": [ { "ec_number": "2.3.2.13", "activity": "L-glutaminyl-[protein] + L-lysyl-[protein] = [protein]-L-lysyl-N(6)-5-L-glutamyl-[protein] + NH4(+).", "evidence": [ { "id": "Q9JLF6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9JLF6" } ] }, { "ec_number": "2.3.2.13", "activity": "", "evidence": [ { "id": "Q9JLF6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9JLF6" } ] } ] }, { "uniprot_ac": "Q9WVJ6", "gene_name": "Tgm2", "activity": [ { "ec_number": "3.4.-.-", "activity": "", "evidence": [ { "id": "Q9WVJ6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9WVJ6" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q9WVJ6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9WVJ6" } ] }, { "ec_number": "2.3.2.13", "activity": "L-glutaminyl-[protein] + L-lysyl-[protein] = [protein]-L-lysyl-N(6)-5-L-glutamyl-[protein] + NH4(+).", "evidence": [ { "id": "Q9WVJ6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9WVJ6" } ] }, { "ec_number": "3.5.1.44", "activity": "H2O + L-glutaminyl-[protein] = L-glutamyl-[protein] + NH4(+).", "evidence": [ { "id": "Q9WVJ6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9WVJ6" } ] }, { "ec_number": "2.3.2.13", "activity": "", "evidence": [ { "id": "Q9WVJ6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9WVJ6" } ] }, { "ec_number": "3.5.1.44", "activity": "", "evidence": [ { "id": "Q9WVJ6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9WVJ6" } ] } ] } ], "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": [ 614 ], "o_linked_sites": [], "snv_sites": [ 23, 221, 347, 457, 535, 575, 614 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 18, "end_pos": 20 }, { "start_pos": 47, "end_pos": 49 }, { "start_pos": 542, "end_pos": 544 }, { "start_pos": 557, "end_pos": 559 }, { "start_pos": 614, "end_pos": 616 }, { "start_pos": 687, "end_pos": 689 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", 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"relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 148 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }