{ "uniprot_canonical_ac": "P07478-1", "uniprot_ac": "P07478", "uniprot_id": "TRY2_HUMAN", "mass": { "chemical_mass": 26488.0, "monoisotopic_mass": 26488.0 }, "refseq": { "ac": "NP_002761", "name": "trypsin-2 isoform 2 preproprotein", "summary": "This gene belongs to the trypsin family of serine proteases and encodes anionic trypsinogen. It is part of a cluster of trypsinogen genes that are located within the T cell receptor beta locus. Enzymes of this family cleave peptide bonds that follow lysine or arginine residues. This protein is found at high levels in pancreatic juice and its upregulation is a characteristic feature of pancreatitis. This protein has also been found to activate pro-urokinase in ovarian tumors, suggesting a function in tumor invasion. In addition, this enzyme is able to cleave across the type II collagen triple helix in rheumatoid arthritis synovitis tissue, potentially participating in the degradation of type II collagen-rich cartilage matrix. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002761" }, "gene_names": [ { "name": "PRSS2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P07478", "id": "P07478" }, { "name": "PRSS2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002761", "id": "NP_002761" }, { "name": "TRY2; TRY8; TRYP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002761", "id": "NP_002761" }, { "name": "TRY2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07478", "id": "P07478" }, { "name": "TRYP2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07478", "id": "P07478" } ], "protein_names": [ { "name": "Trypsin-2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P07478" }, { "name": "3.4.21.4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07478" }, { "name": "Anionic trypsinogen", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07478" }, { "name": "Serine protease 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07478" }, { "name": "Trypsin II", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07478" }, { "name": "trypsin-2 isoform 2 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002761", "id": "NP_002761" }, { "name": "trypsinogen 2; anionic trypsinogen; trypsin II; trypsin-2; protease serine 2 preproprotein; protease, serine, 2 (trypsin 2); protease, serine 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002761", "id": "NP_002761" } ], "function": [ { "annotation": "High expression of serine protease 2 (PRSS2) associated with invasion, metastasis, and proliferation in gastric cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_002761", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002761" }, { "database": "PubMed", "id": "37022096", "url": "https://glygen.org/publication/PubMed/37022096" } ] }, { "annotation": "In the ileum, may be involved in defensin processing, including DEFA5.", "evidence": [ { "database": "UniProtKB", "id": "P07478", "url": "https://www.uniprot.org/uniprot/P07478#function" }, { "database": "PubMed", "id": "12021776", "url": "https://glygen.org/publication/PubMed/12021776" } ] }, { "annotation": "PRSS2 regulates EMT and metastasis via MMP-9 in gastric cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_002761", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002761" }, { "database": "PubMed", "id": "37331089", "url": "https://glygen.org/publication/PubMed/37331089" } ] }, { "annotation": "PRSS2 remodels the tumor microenvironment via repression of Tsp1 to stimulate tumor growth and progression. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002761", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002761" }, { "database": "PubMed", "id": "36575174", "url": "https://glygen.org/publication/PubMed/36575174" } ] }, { "annotation": "Pancreatitis-Associated PRSS1-PRSS2 Haplotype Alters T-Cell Receptor Beta (TRB) Repertoire More Strongly Than PRSS1 Expression.", "evidence": [ { "database": "RefSeq", "id": "NP_002761", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002761" }, { "database": "PubMed", "id": "36191639", "url": "https://glygen.org/publication/PubMed/36191639" } ] }, { "annotation": "This gene belongs to the trypsin family of serine proteases and encodes anionic trypsinogen. It is part of a cluster of trypsinogen genes that are located within the T cell receptor beta locus. Enzymes of this family cleave peptide bonds that follow lysine or arginine residues. This protein is found at high levels in pancreatic juice and its upregulation is a characteristic feature of pancreatitis. This protein has also been found to activate pro-urokinase in ovarian tumors, suggesting a function in tumor invasion. In addition, this enzyme is able to cleave across the type II collagen triple helix in rheumatoid arthritis synovitis tissue, potentially participating in the degradation of type II collagen-rich cartilage matrix. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_002761", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002761" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs369893227", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369893227" }, { "id": "rs369893227", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369893227" }, { "id": "rs369893227", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369893227#frequency_tab" }, { "id": "rs369893227", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369893227" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 101, "end_pos": 101, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SRT->NRT).", "chr_id": "7", "chr_pos": "142773367", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S101", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765028441", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765028441" }, { "id": "rs765028441", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765028441" }, { "id": "rs765028441", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765028441" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 147, "end_pos": 147, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TLS->NLS).", "chr_id": "7", "chr_pos": "142773505", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T147", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1237390110", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1237390110" }, { "id": "rs1237390110", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1237390110#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 178, "end_pos": 178, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KIT->NIT).", "chr_id": "7", "chr_pos": "142773998", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K178", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1307265341", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1307265341" }, { "id": "rs1307265341", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1307265341#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 180, "end_pos": 180, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "7", "chr_pos": "142774002", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T180", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1225052747", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1225052747" }, { "id": "rs1225052747", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1225052747#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 180, "end_pos": 180, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "7", "chr_pos": "142774003", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T180", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1052540295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1052540295" }, { "id": "rs1052540295", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1052540295#frequency_tab" }, { "id": "rs1052540295", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1052540295" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 226, "end_pos": 226, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRP->NRS).", "chr_id": "7", "chr_pos": "142774440", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P226", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760430060", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760430060" }, { "id": "rs760430060", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760430060" }, { "id": "rs760430060", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760430060" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 65, "end_pos": 65, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YKS->NKS).", "chr_id": "7", "chr_pos": "142772201", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y65", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1014691534", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1014691534" }, { "id": "rs1014691534", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1014691534" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 91, "end_pos": 91, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAA->NAS).", "chr_id": "7", "chr_pos": "142773336", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A91", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "84.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000275896", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000275896" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "65.82", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000275896", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000275896" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "90.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000275896", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000275896" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "44.79", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000275896", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000275896" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "89.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000275896", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000275896" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "70.41", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000275896", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000275896" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "25.28", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000275896", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000275896" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "84.05", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000275896", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000275896" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "84.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000275896", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000275896" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P07478", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07478" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, 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"MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", 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"id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "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": "P07478", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07478" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor 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"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", 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"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": 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"id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P07478", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07478" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": 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This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P07478", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07478" } ], "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": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "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 kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P07478", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07478" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P07478", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07478" } ], "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": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P07478", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07478" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P07478", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07478" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P07478", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07478" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, 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"MNLLLILTFVAAAVAAPFDDDDKIVGGYICEENSVPYQVSLNSGYHFCGGSLISEQWVVSAGHCYKSRIQVRLGEHNIEVLEGNEQFINAAKIIRHPKYNSRTLDNDILLIKLSSPAVINSRVSAISLPTAPPAAGTESLISGWGNTLSSGADYPDELQCLDAPVLSQAECEASYPGKITNNMFCVGFLEGGKDSCQGDSGGPVVSNGELQGIVSWGYGCAQKNRPGVYTKVYNYVDWIKDTIAANS", "length": 247, "header": "sp|P07478-1|TRY2_HUMAN Isoform 1 of Trypsin-2 OS=Homo sapiens OX=9606 GN=PRSS2 PE=1 SV=1 CANONICAL=P07478-1" }, "isoforms": [ { "isoform_ac": "A0A0J9YYC8-1", "url": "", "sequence": { "sequence": "MNPLLILAFVGAAVAAPFDDDDKIVGGYICEENSVPYQVSLNSGYHFCGGSLISEQWVVSAGHCYKSRIQVRLGEHNIEVLEGNEQFINAAKIIRHPKYNSRTLDNDILLIKLSSPAVINSRVSAISLPTAPPAAGTESLISGWGNTLSSGADYPDELQCLDAPVLSQAECEASYPGKITNNMFCVGFLEGGKDSCQGDSGGPVVSNGELQGIVSWGYGCAQKNRPGVYTKVYNYVDWIKDTIAANS", "length": 247, "header": "tr|A0A0J9YYC8-1|TRY2_HUMAN Computationally mapped isoform of Trypsin-2 OS=Homo sapiens OX=9606 GN=PRSS2 PE=1 SV=1 CANONICAL=P07478-1" }, "locus": { "chromosome": "7", "start_pos": 142774505, "end_pos": 142760415, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000632998.1", "url": "https://www.ensembl.org/id/ENST00000632998.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000488789.1", "url": "https://www.ensembl.org/id/ENSP00000488789.1" } ] } }, { "isoform_ac": "A6XMV9-1", "url": "", "sequence": { "sequence": "MNLLLILTFVAAAVAAPFDDDDKIVGGYICEENSVPYQVSLNSGYHFCGGSLISEQWVVSAGHCYKSAINSKLSGRGCEYHRIQVRLGEHNIEVLEGNEQFINAAKIIRHPKYNSRTLDNDILLIKLSSPAVINSRVSAISLPTAPPAAGTESLISGWGNTLSSGADYPDELQCLDAPVLSQAECEASYPGKITNNMFCVGFLEGGKDSCQGDSGGPVVSNGELQGIVSWGYGCAQKNRPGVYTKVYNYVDWIKDTIAANS", "length": 261, "header": "tr|A6XMV9-1|A6XMV9_HUMAN Computationally mapped isoform of Protease serine 2 preproprotein OS=Homo sapiens OX=9606 GN=PRSS2 PE=1 SV=1 CANONICAL=P07478-1" }, "locus": { "chromosome": "7", "start_pos": 142774505, "end_pos": 142770983, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000633969.1", "url": "https://www.ensembl.org/id/ENST00000633969.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000488437.1", "url": "https://www.ensembl.org/id/ENSP00000488437.1" } ] } }, { "isoform_ac": "P07478-1", "url": "", "sequence": { "sequence": "MNLLLILTFVAAAVAAPFDDDDKIVGGYICEENSVPYQVSLNSGYHFCGGSLISEQWVVSAGHCYKSRIQVRLGEHNIEVLEGNEQFINAAKIIRHPKYNSRTLDNDILLIKLSSPAVINSRVSAISLPTAPPAAGTESLISGWGNTLSSGADYPDELQCLDAPVLSQAECEASYPGKITNNMFCVGFLEGGKDSCQGDSGGPVVSNGELQGIVSWGYGCAQKNRPGVYTKVYNYVDWIKDTIAANS", "length": 247, "header": "sp|P07478-1|TRY2_HUMAN Isoform 1 of Trypsin-2 OS=Homo sapiens OX=9606 GN=PRSS2 PE=1 SV=1 CANONICAL=P07478-1" }, "locus": { "chromosome": "HSCHR7_2_CTG6", "start_pos": 797478, "end_pos": 793956, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000632112.1", "url": "https://www.ensembl.org/id/ENST00000632112.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000487952.1", "url": "https://www.ensembl.org/id/ENSP00000487952.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 180, "start_aa": "Thr", "end_pos": 180, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr180", "evidence": [ { "id": "P07478", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07478" }, { "id": "36240223", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36240223" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Antiangiogenic activity of restin, NC10 domain of human collagen XV: comparison to endostatin.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Ramchandran R, Dhanabal M, Volk R, Waterman MJ, Segal M, Lu H, Knebelmann B, Sukhatme VP", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": 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"https://www.reactome.org/PathwayBrowser/#R-HSA-1462054" } ], "reference": [ { "type": "PubMed", "id": "10618521", "url": "https://glygen.org/publication/PubMed/10618521" } ] }, { "title": "Biochemical characterization of the catalytic domain of human matrix metalloproteinase 19. Evidence for a role as a potent basement membrane degrading enzyme.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Stracke JO, Hutton M, Stewart M, Pendas AM, Smith B, Lopez-Otin C, Murphy G, Knauper V", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "10809722", "url": "https://glygen.org/publication/PubMed/10809722" } ] }, { "title": "A short sequence in the N-terminal region is required for the trimerization of type XIII collagen and is conserved in other collagenous transmembrane proteins.", "journal": "The EMBO journal", "date": "2000", "authors": "Snellman A, Tu H, Vaisanen T, Kvist AP, Huhtala P, Pihlajaniemi T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "11013208", "url": "https://glygen.org/publication/PubMed/11013208" } ] }, { "title": "Generation and degradation of human endostatin proteins by various proteinases.", "journal": "FEBS letters", "date": "2000", "authors": "Ferreras M, Felbor U, Lenhard T, Olsen BR, Delaisse J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "11119712", "url": "https://glygen.org/publication/PubMed/11119712" } ] }, { "title": "Granulysin, a T cell product, kills bacteria by altering membrane permeability.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2000", "authors": "Ernst WA, Thoma-Uszynski S, Teitelbaum R, Ko C, Hanson DA, Clayberger C, Krensky AM, Leippe M, Bloom BR, Ganz T, Modlin RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "11120840", "url": "https://glygen.org/publication/PubMed/11120840" } ] }, { "title": "Human intelectin is a novel soluble lectin that recognizes galactofuranose in carbohydrate chains of bacterial cell wall.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Tsuji S, Uehori J, Matsumoto M, Suzuki Y, Matsuhisa A, Toyoshima K, Seya T", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "11313366", "url": "https://glygen.org/publication/PubMed/11313366" } ] }, { "title": "Human cathelicidin, hCAP-18, is processed to the antimicrobial peptide LL-37 by extracellular cleavage with proteinase 3.", "journal": "Blood", "date": "2001", "authors": "Sorensen OE, Follin P, Johnsen AH, Calafat J, Tjabringa GS, Hiemstra PS, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "11389039", "url": "https://glygen.org/publication/PubMed/11389039" } ] }, { "title": "Calprotectin inhibits matrix metalloproteinases by sequestration of zinc.", "journal": "Molecular pathology : MP", "date": "2001", "authors": "Isaksen B, Fagerhol MK", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "11577169", "url": "https://glygen.org/publication/PubMed/11577169" } ] }, { "title": "Activation of membrane-type matrix metalloproteinase 3 zymogen by the proprotein convertase furin in the trans-Golgi network.", "journal": "Cancer research", "date": "2002", "authors": "Kang T, Nagase H, Pei D", "evidence": [ { "database": "Reactome", "id": "R-HSA-1592389", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1592389" } ], "reference": [ { "type": "PubMed", "id": "11830519", "url": "https://glygen.org/publication/PubMed/11830519" } ] }, { "title": "CLAC: a novel Alzheimer amyloid plaque component derived from a transmembrane precursor, CLAC-P/collagen type XXV.", "journal": "The EMBO journal", "date": "2002", "authors": "Hashimoto T, Wakabayashi T, Watanabe A, Kowa H, Hosoda R, Nakamura A, Kanazawa I, Arai T, Takio K, Mann DM, Iwatsubo T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "11927537", "url": "https://glygen.org/publication/PubMed/11927537" } ] }, { "title": "PLUNC: a novel family of candidate host defence proteins expressed in the upper airways and nasopharynx.", "journal": "Human molecular genetics", "date": "2002", "authors": "Bingle CD, Craven CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "11971875", "url": "https://glygen.org/publication/PubMed/11971875" } ] }, { "title": "Paneth cell trypsin is the processing enzyme for human defensin-5.", "journal": "Nature immunology", "date": "2002", "authors": "Ghosh D, Porter E, Shen B, Lee SK, Wilk D, Drazba J, Yadav SP, Crabb JW, Ganz T, Bevins CL", "evidence": [ { "database": "UniProtKB", "id": "P07478", "url": "https://www.uniprot.org/uniprot/P07478" }, { "database": "Reactome", "id": "R-HSA-1462054", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1462054" } ], "reference": [ { "type": "PubMed", "id": "12021776", "url": "https://glygen.org/publication/PubMed/12021776" } ] }, { "title": "ADP ribosylation of human neutrophil peptide-1 regulates its biological properties.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Paone G, Wada A, Stevens LA, Matin A, Hirayama T, Levine RL, Moss J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1462054", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1462054" } ], "reference": [ { "type": "PubMed", "id": "12060767", "url": "https://glygen.org/publication/PubMed/12060767" } ] }, { "title": "Isolation and biochemical characterization of LEAP-2, a novel blood peptide expressed in the liver.", "journal": "Protein science : a publication of the Protein Society", "date": "2003", "authors": "Krause A, Sillard R, Kleemeier B, Kluver E, Maronde E, Conejo-Garcia JR, Forssmann WG, Schulz-Knappe P, Nehls MC, Wattler F, Wattler S, Adermann K", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "12493837", "url": "https://glygen.org/publication/PubMed/12493837" } ] }, { "title": "Loss of types XV and XIX collagen precedes basement membrane invasion in ductal carcinoma of the female breast.", "journal": "The Journal of pathology", "date": "2003", "authors": "Amenta PS, Hadad S, Lee MT, Barnard N, Li D, Myers JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "12579531", "url": "https://glygen.org/publication/PubMed/12579531" } ] }, { "title": "Defensins: endogenous antibiotic peptides from human leukocytes.", "journal": "Ciba Foundation symposium", "date": "1992", "authors": "Lehrer RI, Ganz T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1462054", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1462054" } ], "reference": [ { "type": "PubMed", "id": "1302183", "url": "https://glygen.org/publication/PubMed/1302183" } ] }, { "title": "Interaction of 92-kDa type IV collagenase with the tissue inhibitor of metalloproteinases prevents dimerization, complex formation with interstitial collagenase, and activation of the proenzyme with stromelysin.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Goldberg GI, Strongin A, Collier IE, Genrich LT, Marmer BL", "evidence": [ { "database": "Reactome", "id": "R-HSA-1592389", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1592389" } ], "reference": [ { "type": "PubMed", "id": "1311314", "url": "https://glygen.org/publication/PubMed/1311314" } ] }, { "title": "Posttranslational processing of defensins in immature human myeloid cells.", "journal": "Blood", "date": "1992", "authors": "Valore EV, Ganz T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1462054", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1462054" } ], "reference": [ { "type": "PubMed", "id": "1339298", "url": "https://glygen.org/publication/PubMed/1339298" } ] }, { "title": "Matrix metalloproteinase 3 (stromelysin) activates the precursor for the human matrix metalloproteinase 9.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Ogata Y, Enghild JJ, Nagase H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1592389", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1592389" } ], "reference": [ { "type": "PubMed", "id": "1371271", "url": "https://glygen.org/publication/PubMed/1371271" } ] }, { "title": "Mechanism of lysozyme catalysis: role of ground-state strain in subsite D in hen egg-white and human lysozymes.", "journal": "Biochemistry", "date": "1977", "authors": "Schindler M, Assaf Y, Sharon N, Chipman DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "13816", "url": "https://glygen.org/publication/PubMed/13816" } ] }, { "title": "Biochemical characterization of matrilysin. 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"uniprot_canonical_ac": "W4VSR6-1", "protein_name": "Similar to Anionic trypsin II precursor (Pretrypsinogen II)", "gene_name": "LOC683849", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSALLILALVGTAVAFPVDDDDKIVGGYTCQENSVPYQVSLNSGYHFCGGSLINDQWVVSAAHCYKSRIQVRLGEHNINVLEGNEQFVNAAKIIKHPNFDRKTLNNDIMLIKLSSPVKLNARVATVALPSSCAPAGTQCLISGWGNTLSFGVNEPDLLQCLDAPLLPQADCEASYPGKITDNMVCAGFLEGGKDSCQGDSGGPVVCNGELQGIVSWGYGCALPDNPGVYTKVCNYVDWIEDTIAAN", "length": 246 }, "evidence": [ { "id": "45917843", "url": "http://www.informatics.jax.org/homology/45917843", "database": "MGI" }, { "id": "45917845", "url": "http://www.informatics.jax.org/homology/45917845", "database": "MGI" }, { "id": "45917838", "url": "http://www.informatics.jax.org/homology/45917838", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "P07478", "url": "https://www.uniprot.org/uniprot/P07478" } ], "pmid": "" }, { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "P07478", "url": "https://www.uniprot.org/uniprot/P07478" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P07478", "url": "https://www.uniprot.org/uniprot/P07478" } ], "pmid": "" }, { "name": "serine-type peptidase activity", "id": "GO:0008236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008236", "evidence": [ { "database": "UniProtKB", "id": "P07478", "url": "https://www.uniprot.org/uniprot/P07478" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 7, "go_terms": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P07478", "url": "https://www.uniprot.org/uniprot/P07478" } ], "pmid": "" }, { "name": "extracellular matrix disassembly", "id": "GO:0022617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022617", "evidence": [ { "database": "UniProtKB", "id": "P07478", "url": "https://www.uniprot.org/uniprot/P07478" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "P07478", "url": "https://www.uniprot.org/uniprot/P07478" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "P07478", "url": "https://www.uniprot.org/uniprot/P07478" } ], "pmid": "" }, { "name": "digestion", "id": "GO:0007586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007586", "evidence": [ { "database": "UniProtKB", "id": "P07478", "url": "https://www.uniprot.org/uniprot/P07478" } ], "pmid": "" }, { "name": "collagen catabolic process", "id": "GO:0030574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030574", "evidence": [ { "database": "UniProtKB", "id": "P07478", "url": "https://www.uniprot.org/uniprot/P07478" } ], "pmid": "" }, { "name": "antimicrobial humoral response", "id": "GO:0019730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019730", "evidence": [ { "database": "UniProtKB", "id": "P07478", "url": "https://www.uniprot.org/uniprot/P07478" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P07478", "url": "https://www.uniprot.org/uniprot/P07478" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P07478", "url": "https://www.uniprot.org/uniprot/P07478" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P07478", "url": "https://www.uniprot.org/uniprot/P07478" } ], "pmid": "" }, { "name": "azurophil granule lumen", "id": "GO:0035578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035578", "evidence": [ { "database": "UniProtKB", "id": "P07478", "url": "https://www.uniprot.org/uniprot/P07478" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [ { "annotation": "Sulfated on tyrosine.", "evidence": [ { "database": "UniProtKB", "id": "P07478", "url": "https://www.uniprot.org/uniprot/P07478" }, { "database": "PubMed", "id": "17087724", "url": "https://glygen.org/publication/PubMed/17087724" } ] }, { "annotation": "Sulfation at Tyr-154 increases selectivity towards basic versus apolar residues at the P2' position of inhibitors that bind in a substrate-like fashion. Although the increase in selectivity is relatively small, it may facilitate digestion of a broader range of dietary proteins.", "evidence": [ { "database": "UniProtKB", "id": "P07478", "url": "https://www.uniprot.org/uniprot/P07478" }, { "database": "PubMed", "id": "25010489", "url": "https://glygen.org/publication/PubMed/25010489" } ] } ], "interactions": [], "reactions": [ { "id": "R-HSA-1454822", "name": "Collagen type I degradation by MMP1,2,8,13, PRSS2", "equation": "", "summary": "MMP1 (Welgus et al. 1981), MMP8 (Hasty et al. 1987), and MMP13 (Knauper et al. 1996) known in the literature as collagenases I, II and III respectively are able to digest the intrahelical bonds of collagen type I. MMP2, also known as Gelatinase-A, was found to cleave collagen type I fibrils (Aimes & Quigley 1995). Though this was disputed (Seltzre & Eisen 1999) there is a structural explanation for the apparent discrepancies in experimental data (Patterson et al. 2001). In addition trypsin-2 is able to degrade native soluble type I collagen (Moilanen et al. 2003). ; ; Degradation is represented here at a theoretical end point where every alpha strand has been cleaved.", "cellular_location": "extracellular region", "input_participant_list": [], "output_participant_list": [ "R-HSA-2467150" ], "enzyme_list": [ "P03956-1", "P08253-1", "P07478-1", "P45452-1", "P22894-1" ], "evidence": [ { "id": "R-HSA-1454822", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1454822" } ] }, { "id": "R-HSA-1461993", "name": "pro-HD5 is cleaved by trypsin", "equation": "", "summary": "Pro HD5 is stored and secreted from granules of Paneth cells in the small intestine (Porter et al. 1997, Cunliffe et al. 2001). The serine protease tryspin colocalizes to these granules as the inactive zymogen trypsinogen. Removal of the defensin propiece occurs extracellularly after release in to the crypt lumen, and is mediated by trypsin 2 (anionic trypsin) and/or trypsin-3 (mesotrypsin) which are converted to their active forms by enteroprotease like enzymes or by autoactivation (Ghosh et al. 2002, Ouelette 2011). ; ;", "cellular_location": "extracellular region", "input_participant_list": [ "R-HSA-1471344" ], "output_participant_list": [ "R-HSA-1462017" ], "enzyme_list": [ "P07478-1", "P35030-1" ], "evidence": [ { "id": "R-HSA-1461993", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1461993" } ] }, { "id": "R-HSA-1474197", "name": "Collagen type II degradation by MMP1,3,8,13,PRSS2", "equation": "", "summary": "MMP1 (Welgus et al. 1981), MMP8 (Hasty et al. 1987), and MMP13 (Knauper et al. 1996, Mitchell et al. 1996, Billinghurst et al. 1997) known in the literature as collagenases I, II and III respectively are able to digest the intrahelical bonds of collagen type II, cleaving between amino acids Gly975 and Leu976 of the Uniprot canonical sequence. Human trypsin-2 is also capable of cleaving the triple helix of human cartilage collagen type II (Stenman et al. 2005).", "cellular_location": "extracellular region", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P03956-1", "P07478-1", "P45452-1", "P08254-1", "P22894-1" ], "evidence": [ { "id": "R-HSA-1474197", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474197" } ] }, { "id": "R-HSA-1592316", "name": "Initial activation of proMMP1", "equation": "", "summary": "ProMMP1 has several activators including plasmin (Eeckhout & Vaes 1977, Werb et al. 1977, Santala et al. 1999), trypsin (Grant et al. 1987, Saunders et al. 2005), plasma kallikrein (Nagase et al. 1982, Saunders et al. 2005), chymase (Saarinen et al. 1994, Suzuki et al. 1995, Saunders et al. 2005), tryptase (Gruber et al. 1989, Suzuki et al. 1995, Saunders et al. 2005), neutrophil elastase, cathepsin G (Saunders et al. 2005) and trypsin-2 (Moilanen et al. 2003). Concanavalin A (ConA) was the first cellular treatment that yielded active MMPs in culture, inducing the cellular activation of MMP1 likely through MMP14 activity (Overall and Sodek 1990).Trypsin-like serine proteinases are believed to remove 34-36 residues from the N-terminus of the secreted pro-enzyme, equivalent to positions 53-55 of the UniProt cannonical sequence which includes a signal peptide. Removal of this region is sufficient to destabilize the Cys92-Zn2+ stabilizing bond (numbered according to the Uniprot canonical sequence, Cys73 when numbered from the N terminus of the secreted peptide as typically represented in the literature) and partially activate enzyme activity. This intermediate form then undergoes autocatalysis at Thr83-Leu84 producing an MMP1 with about 20% of full collagenase activity (Suzuki et al. 1990). Full activation is brought about by a further cleavage at Gln99-Phe100. When first reported, considerable debate surrounded the activation of this archetypical MMP. Divergence of opinion resulted when competing groups studied activation in vitro using chemicals (organomercurials such as aminophenylmecuricacetate), which yield a different autolytic cleavage site in the protease susceptible loop when compared with the site cut by serine proteases such as trypsin. Different specific activities result, but in general the final autolytic cleavage site for all MMPs is the homologous Phe or Tyr at position 100 or 101. When the active enzyme commences here, full activity is realised due to the salt bridge forming between the N-terminal primary amine of the conserved Phe or Tyr with an Asp on helix C that in turn salt bridges to the active site Glu. Termini either side of this position do not result in full activity.", "cellular_location": "extracellular region", "input_participant_list": [ "R-HSA-1602455" ], "output_participant_list": [ "R-HSA-1602470", "R-HSA-1602471" ], "enzyme_list": [ "P08246-1", "P03956-1", "P00747-1", "P08311-1", "Q15661-1", "P07478-1", "P03952-1", "P23946-1", "P07477-1" ], "evidence": [ { "id": "R-HSA-1592316", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1592316" } ] }, { "id": "R-HSA-1604722", "name": "Activation of proMMP9 by proteases", "equation": "", "summary": "proMMP9 can be activated by trypsin and chymotrypsin (Sopata & Dancewicz 1974), tissue kallikrein (Tschesche et al. 1989, Desrivieres et al. 1993), cathepsin G (Murphy et al. 1980), and trypsin-2 (Sorsa et al. 1997). This appears to be a one-step activation; the single peptide bond cleaved by trypsin-2 in proMMP-9 is Arg106-Phe107. Modes of activation by other proteases are unclear. Activation is inhibited by endostatin (Nyberg et al. 2003).", "cellular_location": "extracellular region", "input_participant_list": [], "output_participant_list": [ "R-HSA-1604713", "R-HSA-668812" ], "enzyme_list": [ "P17538-1", "P08311-1", "P14780-1", "P07478-1", "P20151-1", "P07477-1" ], "evidence": [ { "id": "R-HSA-1604722", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1604722" } ] }, { "id": "R-HSA-6798751", "name": "Exocytosis of azurophil granule lumen proteins", "equation": "", "summary": "Azurophil or primary granules were originally defined by their high content of myeloperoxidase (MPO) and their affinity for the basic dye azure A (Spicer & Hardin 1969). Azurophil granules are generally described as spherical. Like lysosomes, they contain CD63 in their membrane (Cham et al. 1994) but are regarded as specialized secretory granules rather than lysosomes (Cieutat et al. 1998). Azurophil granules undergo limited exocytosis in response to stimulation (Sengelov et al. 1993, Faurschou et al. 2002), their primary role is believed to be killing and degradation of engulfed microbes in the phagolysosome (Joiner et al. 1989).; ; MPO reacts with H2O2 formed by NADPH oxidase, increasing its toxicity by formation of hypochlorous acid and other chlorination products, tyrosine radicals and reactive nitrogen intermediates which attack the surface of microbes (Klebanoff et al. 2013).;", "cellular_location": "extracellular region, azurophil granule lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q05655-1", "P07686-1", "P12724-1", "P04066-1", "Q92820-1", "Q6XQN6-1", "Q99536-1", "Q9BRF8-1", "Q9UHL4-1", "P08246-1", "P34059-1", "P15586-1", "P24158-1", "Q9Y2J8-1", "P10619-1", "O00584-1", "P53396-1", "P55072-1", "P06280-1", "P28482-1", "Q9NZK5-1", "P20933-1", "P05089-1", "P15289-1", "P15848-1", "P16278-1", "Q9H7Z7-1", "P53634-1", "P08311-1", "Q9BTY2-1", "P00387-1", "P30041-1", "P05164-1", "Q8NBS9-1", "P11216-1", "P10153-1", "P61626-1", "P08236-1", "P42685-1", "P07478-1", "O00754-1", "P20839-1" ], "evidence": [ { "id": "R-HSA-6798751", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798751" } ] }, { "id": "R-HSA-6801766", "name": "Trypsin cleaves REG3A or REG3G to generate REG3A,G(38-175)", "equation": "", "summary": "Regenerating islet-derived 3 (REG3) proteins belong to the family of C-type lectins (Cash HL et al. 2006a,b; Lehotzky RE et al. 2010). REG3A and REG3G are expressed in the intestine where they moodulate the host interactions with commensal and pathogenic gut bacteria. REG3 proteins bind the peptidoglycan moieties of bacteria inducing damage to the bacterial cell wall. The antibacterial activities of REG3 proteins are restricted to Gram-positive bacteria and are tightly controlled by an inhibitory N-terminal prosegment that is removed by trypsin in vivo (Cash HL et al. 2006; Mukherjee S et al. 2009; Medveczky P et al. 2009).", "cellular_location": "extracellular region", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P07478-1", "P35030-1" ], "evidence": [ { "id": "R-HSA-6801766", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6801766" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-1462017", "participant_name": "DEFA5(?-94) [extracellular region]", "crossref": [ { "id": "ENSG00000285251", "database": "Ensembl", "url": "" }, { "id": "5CUM", "database": "PDB", "url": "" }, { "id": "5CUI", "database": "PDB", "url": "" }, { "id": "ENSP00000329890", "database": "Ensembl", "url": "" }, { "id": "Q01523", "database": "Pharos - Targets", "url": "" }, { "id": "Q01523", "database": "UniProt", "url": "" }, { "id": "ENSG00000164816", "database": "Ensembl", "url": "" }, { "id": "ENSG00000164816", "database": "OpenTargets", "url": "" }, { "id": "ENST00000330590", "database": "Ensembl", "url": "" }, { "id": "Q01523", "database": "PRO", "url": "" }, { "id": "NP_066290.1", "database": "RefSeq", "url": "" }, { "id": "ENSG00000164816-DEFA5", "database": "HPA", "url": "" }, { "id": "3I5W", "database": "PDB", "url": "" }, { "id": "1ZMP", "database": "PDB", "url": "" }, { "id": "4RBW", "database": "PDB", "url": "" }, { "id": "4RBX", "database": "PDB", "url": "" }, { "id": "2MIT", "database": "PDB", "url": "" }, { "id": "Q01523", "database": "GeneCards", "url": "" }, { "id": "4E86", "database": "PDB", "url": "" }, { "id": "ENST00000647159", "database": "Ensembl", "url": "" }, { "id": "4E83", "database": "PDB", "url": "" }, { "id": "ENSP00000494799", "database": "Ensembl", "url": "" }, { "id": "4E82", "database": "PDB", "url": "" }, { "id": "5CUJ", "database": "PDB", "url": "" }, { "id": "2LXZ", "database": "PDB", "url": "" } ] }, { "participant_id": "R-HSA-1471344", "participant_name": "DEFA5(20-94) [extracellular region]", "crossref": [ { "id": "Q01523", "database": "UniProt", "url": "" }, { "id": "ENST00000647159", "database": "Ensembl", "url": "" }, { "id": "ENST00000330590", "database": "Ensembl", "url": "" }, { "id": "2MIT", "database": "PDB", "url": "" }, { "id": "ENSP00000329890", "database": "Ensembl", "url": "" }, { "id": "ENSP00000494799", "database": "Ensembl", "url": "" }, { "id": "NP_066290.1", "database": "RefSeq", "url": "" }, { "id": "4RBW", "database": "PDB", "url": "" }, { "id": "ENSG00000285251", "database": "Ensembl", "url": "" }, { "id": "2LXZ", "database": "PDB", "url": "" }, { "id": "ENSG00000164816", "database": "Ensembl", "url": "" }, { "id": "4E86", "database": "PDB", "url": "" }, { "id": "Q01523", "database": "Pharos - 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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": "P03952", "gene_name": "KLKB1", "activity": [ { "ec_number": "3.4.21.34", "activity": "Cleaves selectively Arg-|-Xaa and Lys-|-Xaa bonds, including Lys-|-Arg and Arg-|-Ser bonds in (human) kininogen to release bradykinin.", "evidence": [ { "id": "P03952", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03952" } ] }, { "ec_number": "3.4.21.34", "activity": "", "evidence": [ { "id": "P03952", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03952" } ] } ] }, { "uniprot_ac": "P03956", "gene_name": "MMP1", "activity": [ { "ec_number": "3.4.24.7", "activity": "Cleavage of the triple helix of collagen at about three-quarters of the length of the molecule from the N-terminus, at 775-Gly-|-Ile-776 in the alpha1(I) chain. Cleaves synthetic substrates and alpha-macroglobulins at bonds where P1' is a hydrophobic residue.", "evidence": [ { "id": "P03956", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03956" } ] }, { "ec_number": "3.4.24.7", "activity": "", "evidence": [ { "id": "P03956", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03956" } ] } ] }, { "uniprot_ac": "P04066", "gene_name": "FUCA1", "activity": [ { "ec_number": "3.2.1.51", "activity": "an alpha-L-fucoside + H2O = an alcohol + L-fucose.", "evidence": [ { "id": "P04066", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04066" } ] }, { "ec_number": "3.2.1.51", "activity": "", "evidence": [ { "id": "P04066", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04066" } ] } ] }, { "uniprot_ac": "P05089", "gene_name": "ARG1", "activity": [ { "ec_number": "3.5.3.1", "activity": "H2O + L-arginine = L-ornithine + urea.", "evidence": [ { "id": "P05089", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05089" } ] }, { "ec_number": "3.5.3.1", "activity": "", "evidence": [ { "id": "P05089", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05089" } ] } ] }, { "uniprot_ac": "P05164", "gene_name": "MPO", "activity": [ { "ec_number": "1.11.2.2", "activity": "chloride + H(+) + H2O2 = H2O + hypochlorous acid.", "evidence": [ { "id": "P05164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05164" } ] }, { "ec_number": "1.11.2.2", "activity": "", "evidence": [ { "id": "P05164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05164" } ] } ] }, { "uniprot_ac": "P06280", "gene_name": "GLA", "activity": [ { "ec_number": "3.2.1.-", "activity": "", "evidence": [ { "id": "P06280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06280" } ] }, { "ec_number": "3.2.1.22", "activity": "a globoside Gb3Cer (d18:1(4E)) + H2O = a beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + D-galactose.", "evidence": [ { "id": "P06280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06280" } ] }, { "ec_number": "3.2.1.22", "activity": "", "evidence": [ { "id": "P06280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06280" } ] } ] }, { "uniprot_ac": "P07477", "gene_name": "PRSS1", "activity": [ { "ec_number": "3.4.21.4", "activity": "Preferential cleavage: Arg-|-Xaa, Lys-|-Xaa.", "evidence": [ { "id": "P07477", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07477" } ] }, { "ec_number": "3.4.21.4", "activity": "", "evidence": [ { "id": "P07477", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07477" } ] } ] }, { "uniprot_ac": "P07478", "gene_name": "PRSS2", "activity": [ { "ec_number": "3.4.21.4", "activity": "Preferential cleavage: Arg-|-Xaa, Lys-|-Xaa.", "evidence": [ { "id": "P07478", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07478" } ] }, { "ec_number": "3.4.21.4", "activity": "", "evidence": [ { "id": "P07478", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07478" } ] } ] }, { "uniprot_ac": "P07686", "gene_name": "HEXB", "activity": [ { "ec_number": "3.2.1.52", "activity": "Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides.", "evidence": [ { "id": "P07686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07686" } ] }, { "ec_number": "3.2.1.52", "activity": "", "evidence": [ { "id": "P07686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07686" } ] } ] }, { "uniprot_ac": "P08236", "gene_name": "GUSB", "activity": [ { "ec_number": "3.2.1.31", "activity": "a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate.", "evidence": [ { "id": "P08236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08236" } ] }, { "ec_number": "3.2.1.31", "activity": "", "evidence": [ { "id": "P08236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08236" } ] } ] }, { "uniprot_ac": "P08246", "gene_name": "ELANE", "activity": [ { "ec_number": "3.4.21.37", "activity": "Hydrolysis of proteins, including elastin. Preferential cleavage: Val-|-Xaa > Ala-|-Xaa.", "evidence": [ { "id": "P08246", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08246" } ] }, { "ec_number": "3.4.21.37", "activity": "", "evidence": [ { "id": "P08246", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08246" } ] } ] }, { "uniprot_ac": "P08253", "gene_name": "MMP2", "activity": [ { "ec_number": "3.4.24.24", "activity": "Cleavage of gelatin type I and collagen types IV, V, VII, X. Cleaves the collagen-like sequence Pro-Gln-Gly-|-Ile-Ala-Gly-Gln.", "evidence": [ { "id": "P08253", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08253" } ] }, { "ec_number": "3.4.24.24", "activity": "", "evidence": [ { "id": "P08253", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08253" } ] } ] }, { "uniprot_ac": "P08254", "gene_name": "MMP3", "activity": [ { "ec_number": "3.4.24.17", "activity": "Preferential cleavage where P1', P2' and P3' are hydrophobic residues.", "evidence": [ { "id": "P08254", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08254" } ] }, { "ec_number": "3.4.24.17", "activity": "", "evidence": [ { "id": "P08254", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08254" } ] } ] }, { "uniprot_ac": "P08311", "gene_name": "CTSG", "activity": [ { "ec_number": "3.4.21.20", "activity": "Specificity similar to chymotrypsin C.", "evidence": [ { "id": "P08311", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08311" } ] }, { "ec_number": "3.4.21.20", "activity": "", "evidence": [ { "id": "P08311", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08311" } ] } ] }, { "uniprot_ac": "P10153", "gene_name": "RNASE2", "activity": [ { "ec_number": "4.6.1.18", "activity": "an [RNA] containing cytidine + H2O = an [RNA]-3'-cytidine-3'-phosphate + a 5'-hydroxy-ribonucleotide-3'-[RNA].", "evidence": [ { "id": "P10153", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10153" } ] }, { "ec_number": "4.6.1.18", "activity": "", "evidence": [ { "id": "P10153", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10153" } ] } ] }, { "uniprot_ac": "P10619", "gene_name": "CTSA", "activity": [ { "ec_number": "3.4.16.-", "activity": "", "evidence": [ { "id": "P10619", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10619" } ] }, { "ec_number": "3.4.16.5", "activity": "Release of a C-terminal amino acid with broad specificity.", "evidence": [ { "id": "P10619", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10619" } ] }, { "ec_number": "3.4.16.5", "activity": "", "evidence": [ { "id": "P10619", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10619" } ] } ] }, { "uniprot_ac": "P11216", "gene_name": "PYGB", "activity": [ { "ec_number": "2.4.1.1", "activity": "[(1->4)-alpha-D-glucosyl](n) + phosphate = [(1->4)-alpha-D-glucosyl](n-1) + alpha-D-glucose 1-phosphate.", "evidence": [ { "id": "P11216", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11216" } ] }, { "ec_number": "2.4.1.1", "activity": "", "evidence": [ { "id": "P11216", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11216" } ] } ] }, { "uniprot_ac": "P12724", "gene_name": "RNASE3", "activity": [ { "ec_number": "3.1.27.-", "activity": "", "evidence": [ { "id": "P12724", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12724" } ] } ] }, { "uniprot_ac": "P14780", "gene_name": "MMP9", "activity": [ { "ec_number": "3.4.24.35", "activity": "Cleavage of gelatin types I and V and collagen types IV and V.", "evidence": [ { "id": "P14780", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14780" } ] }, { "ec_number": "3.4.24.35", "activity": "", "evidence": [ { "id": "P14780", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14780" } ] } ] }, { "uniprot_ac": "P15289", "gene_name": "ARSA", "activity": [ { "ec_number": "3.1.6.8", "activity": "H2O + N-acyl-1-beta-D-(3-O-sulfo)-galactosyl-sphing-4-enine = a beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine + H(+) + sulfate.", "evidence": [ { "id": "P15289", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15289" } ] }, { "ec_number": "3.1.6.8", "activity": "", "evidence": [ { "id": "P15289", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15289" } ] } ] }, { "uniprot_ac": "P15586", "gene_name": "GNS", "activity": [ { "ec_number": "3.1.6.14", "activity": "Hydrolysis of the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate.", "evidence": [ { "id": "P15586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15586" } ] }, { "ec_number": "3.1.6.14", "activity": "", "evidence": [ { "id": "P15586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15586" } ] } ] }, { "uniprot_ac": "P15848", "gene_name": "ARSB", "activity": [ { "ec_number": "3.1.6.12", "activity": "Hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate.", "evidence": [ { "id": "P15848", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15848" } ] }, { "ec_number": "3.1.6.12", "activity": "", "evidence": [ { "id": "P15848", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15848" } ] } ] }, { "uniprot_ac": "P16278", "gene_name": "GLB1", "activity": [ { "ec_number": "3.2.1.23", "activity": "Hydrolysis of terminal non-reducing beta-D-galactose residues in beta-D-galactosides.", "evidence": [ { "id": "P16278", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16278" } ] }, { "ec_number": "3.2.1.23", "activity": "", "evidence": [ { "id": "P16278", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16278" } ] } ] }, { "uniprot_ac": "P17538", "gene_name": "CTRB1", "activity": [ { "ec_number": "3.4.21.1", "activity": "Preferential cleavage: Tyr-|-Xaa, Trp-|-Xaa, Phe-|-Xaa, Leu-|-Xaa.", "evidence": [ { "id": "P17538", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17538" } ] }, { "ec_number": "3.4.21.1", "activity": "", "evidence": [ { "id": "P17538", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17538" } ] } ] }, { "uniprot_ac": "P20151", "gene_name": "KLK2", "activity": [ { "ec_number": "3.4.21.35", "activity": "Preferential cleavage of Arg-|-Xaa bonds in small molecule substrates. Highly selective action to release kallidin (lysyl-bradykinin) from kininogen involves hydrolysis of Met-|-Xaa or Leu-|-Xaa.", "evidence": [ { "id": "P20151", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20151" } ] }, { "ec_number": "3.4.21.35", "activity": "", "evidence": [ { "id": "P20151", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20151" } ] } ] }, { "uniprot_ac": "P20839", "gene_name": "IMPDH1", "activity": [ { "ec_number": "1.1.1.205", "activity": "H2O + IMP + NAD(+) = H(+) + NADH + XMP.", "evidence": [ { "id": "P20839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20839" } ] }, { "ec_number": "1.1.1.205", "activity": "", "evidence": [ { "id": "P20839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20839" } ] } ] }, { "uniprot_ac": "P20933", "gene_name": "AGA", "activity": [ { "ec_number": "3.5.1.26", "activity": "H2O + N(4)-(beta-N-acetyl-D-glucosaminyl)-L-asparagine = H(+) + L-aspartate + N-acetyl-beta-D-glucosaminylamine.", "evidence": [ { "id": "P20933", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20933" } ] }, { "ec_number": "3.5.1.26", "activity": "", "evidence": [ { "id": "P20933", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20933" } ] } ] }, { "uniprot_ac": "P22894", "gene_name": "MMP8", "activity": [ { "ec_number": "3.4.24.34", "activity": "Cleavage of interstitial collagens in the triple helical domain. Unlike EC 3.4.24.7, this enzyme cleaves type III collagen more slowly than type I.", "evidence": [ { "id": "P22894", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22894" } ] }, { "ec_number": "3.4.24.34", "activity": "", "evidence": [ { "id": "P22894", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22894" } ] } ] }, { "uniprot_ac": "P23946", "gene_name": "CMA1", "activity": [ { "ec_number": "3.4.21.39", "activity": "Preferential cleavage: Phe-|-Xaa > Tyr-|-Xaa > Trp-|-Xaa > Leu-|-Xaa.", "evidence": [ { "id": "P23946", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23946" } ] }, { "ec_number": "3.4.21.39", "activity": "", "evidence": [ { "id": "P23946", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23946" } ] } ] }, { "uniprot_ac": "P24158", "gene_name": "PRTN3", "activity": [ { "ec_number": "3.4.21.76", "activity": "Hydrolysis of proteins, including elastin, by preferential cleavage: -Ala-|-Xaa- > -Val-|-Xaa-.", "evidence": [ { "id": "P24158", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24158" } ] }, { "ec_number": "3.4.21.76", "activity": "", "evidence": [ { "id": "P24158", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24158" } ] } ] }, { "uniprot_ac": "P28482", "gene_name": "MAPK1", "activity": [ { "ec_number": "2.7.11.24", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P28482", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28482" } ] }, { "ec_number": "2.7.11.24", "activity": "", "evidence": [ { "id": "P28482", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28482" } ] } ] }, { "uniprot_ac": "P30041", "gene_name": "PRDX6", "activity": [ { "ec_number": "1.11.1.27", "activity": "a hydroperoxide + 2 glutathione = an alcohol + glutathione disulfide + H2O.", "evidence": [ { "id": "P30041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30041" } ] }, { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "P30041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30041" } ] }, { "ec_number": "2.3.1.23", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphocholine + CoA.", "evidence": [ { "id": "P30041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30041" } ] }, { "ec_number": "1.11.1.27", "activity": "", "evidence": [ { "id": "P30041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30041" } ] } ] }, { "uniprot_ac": "P34059", "gene_name": "GALNS", "activity": [ { "ec_number": "3.1.6.4", "activity": "Hydrolysis of the 6-sulfate groups of the N-acetyl-D-galactosamine 6-sulfate units of chondroitin sulfate and of the D-galactose 6-sulfate units of keratan sulfate.", "evidence": [ { "id": "P34059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P34059" } ] }, { "ec_number": "3.1.6.4", "activity": "", "evidence": [ { "id": "P34059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P34059" } ] } ] }, { "uniprot_ac": "P35030", "gene_name": "PRSS3", "activity": [ { "ec_number": "3.4.21.4", "activity": "Preferential cleavage: Arg-|-Xaa, Lys-|-Xaa.", "evidence": [ { "id": "P35030", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35030" } ] }, { "ec_number": "3.4.21.4", "activity": "", "evidence": [ { "id": "P35030", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35030" } ] } ] }, { "uniprot_ac": "P42685", "gene_name": "FRK", "activity": [ { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P42685", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42685" } ] }, { "ec_number": "2.7.10.2", "activity": "", "evidence": [ { "id": "P42685", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42685" } ] } ] }, { "uniprot_ac": "P45452", "gene_name": "MMP13", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "P45452", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P45452" } ] } ] }, { "uniprot_ac": "P53396", "gene_name": "ACLY", "activity": [ { "ec_number": "2.3.3.8", "activity": "acetyl-CoA + ADP + oxaloacetate + phosphate = ATP + citrate + CoA.", "evidence": [ { "id": "P53396", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53396" } ] }, { "ec_number": "2.3.3.8", "activity": "", "evidence": [ { "id": "P53396", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53396" } ] } ] }, { "uniprot_ac": "P53634", "gene_name": "CTSC", "activity": [ { "ec_number": "3.4.14.1", "activity": "Release of an N-terminal dipeptide, Xaa-Yaa-|-Zaa-, except when Xaa is Arg or Lys, or Yaa or Zaa is Pro.", "evidence": [ { "id": "P53634", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53634" } ] }, { "ec_number": "3.4.14.1", "activity": "", "evidence": [ { "id": "P53634", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53634" } ] } ] }, { "uniprot_ac": "P55072", "gene_name": "VCP", "activity": [ { "ec_number": "3.6.4.6", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P55072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55072" } ] }, { "ec_number": "3.6.4.6", "activity": "", "evidence": [ { "id": "P55072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55072" } ] } ] }, { "uniprot_ac": "P61626", "gene_name": "LYZ", "activity": [ { "ec_number": "3.2.1.17", "activity": "Hydrolysis of (1->4)-beta-linkages between N-acetylmuramic acid and N-acetyl-D-glucosamine residues in a peptidoglycan and between N-acetyl-D-glucosamine residues in chitodextrins.", "evidence": [ { "id": 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