{ "uniprot_canonical_ac": "P07477-1", "uniprot_ac": "P07477", "uniprot_id": "TRY1_HUMAN", "mass": { "chemical_mass": 26558.0, "monoisotopic_mass": 26558.0 }, "refseq": { "ac": "NP_002760", "name": "serine protease 1 preproprotein", "summary": "This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is secreted by the pancreas and cleaved to its active form in the small intestine. It is active on peptide linkages involving the carboxyl group of lysine or arginine. Mutations in this gene are associated with hereditary pancreatitis. This gene and several other trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002760" }, "gene_names": [ { "name": "PRSS1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P07477", "id": "P07477" }, { "name": "PRSS1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002760", "id": "NP_002760" }, { "name": "TRP1; TRY1; TRY4; TRYP1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002760", "id": "NP_002760" }, { "name": "TRP1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07477", "id": "P07477" }, { "name": "TRY1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07477", "id": "P07477" }, { "name": "TRYP1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07477", "id": "P07477" } ], "protein_names": [ { "name": "Serine protease 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P07477" }, { "name": "3.4.21.4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07477" }, { "name": "Anionic trypsin I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07477" }, { "name": "Anionic trypsin-I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07477" }, { "name": "Beta-trypsin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07477" }, { "name": "Cationic trypsinogen", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07477" }, { "name": "Pretrypsinogen I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07477" }, { "name": "Trypsin I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07477" }, { "name": "Trypsin-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07477" }, { "name": "serine protease 1 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002760", "id": "NP_002760" }, { "name": "trypsinogen 1; trypsinogen A; TCR V beta 4.1; cationic trypsinogen; nonfunctional trypsin 1; digestive zymogen; beta-trypsin; protease, serine 1; pretrypsinogen I; anionic trypsin I", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002760", "id": "NP_002760" } ], "function": [ { "annotation": "A rare PRSS1 p.S127C mutation is associated with chronic pancreatitis and causes misfolding-induced ER-stress.", "evidence": [ { "database": "RefSeq", "id": "NP_002760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002760" }, { "database": "PubMed", "id": "36369231", "url": "https://glygen.org/publication/PubMed/36369231" } ] }, { "annotation": "Has activity against the synthetic substrates Boc-Phe-Ser-Arg-Mec, Boc-Leu-Thr-Arg-Mec, Boc-Gln-Ala-Arg-Mec and Boc-Val-Pro-Arg-Mec. The single-chain form is more active than the two-chain form against all of these substrates.", "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprot/P07477#function" }, { "database": "PubMed", "id": "7945238", "url": "https://glygen.org/publication/PubMed/7945238" } ] }, { "annotation": "Pancreatitis-Associated PRSS1-PRSS2 Haplotype Alters T-Cell Receptor Beta (TRB) Repertoire More Strongly Than PRSS1 Expression.", "evidence": [ { "database": "RefSeq", "id": "NP_002760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002760" }, { "database": "PubMed", "id": "36191639", "url": "https://glygen.org/publication/PubMed/36191639" } ] }, { "annotation": "This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is secreted by the pancreas and cleaved to its active form in the small intestine. It is active on peptide linkages involving the carboxyl group of lysine or arginine. Mutations in this gene are associated with hereditary pancreatitis. This gene and several other trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_002760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002760" } ] }, { "annotation": "Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_002760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002760" }, { "database": "PubMed", "id": "35089416", "url": "https://glygen.org/publication/PubMed/35089416" } ] }, { "annotation": "[Influence of environmental factors and polymorphic loci rs6580502 of the SPINK1 gene, rs10273639 of the PRSS1 gene, rs213950 of the CFTR gene on the risk of developing acute alcoholic-alimentary pancreatitis].", "evidence": [ { "database": "RefSeq", "id": "NP_002760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002760" }, { "database": "PubMed", "id": "36883543", "url": "https://glygen.org/publication/PubMed/36883543" } ] } ], "disease": [ { "disease_id": "DOID:4989", "recommended_name": { "id": "DOID:4989", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas." }, "synonyms": [ { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary chronic pancreatitis", "description": "Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary chronic pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "HPC", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "Hp", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "PCTT", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "autosomal dominant hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "familial pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, calcific", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, calcific, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic pancreatitis, chronic, susceptibility to, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic, protection against", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic, protection against, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic, susceptibility to", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, hereditary", "description": "" }, { "id": "MIM:167800", "resource": "MIM", "url": "https://www.omim.org/entry/167800", "name": "Pancreatitis, hereditary", "description": "Pancreatitis, hereditary" } ], "evidence": [ { "id": "167800", "database": "MIM", "url": "https://www.omim.org/entry/167800" } ] } ], "snv": [ { "evidence": [ { "id": "rs1195251647", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1195251647" }, { "id": "rs1195251647", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1195251647#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 103, "end_pos": 103, "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": "142751881", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T103", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P07477", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P07477" }, { "id": "rs1461511291", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1461511291" }, { "id": "rs1461511291", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1461511291" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 108, "end_pos": 108, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NDI->NDT).", "chr_id": "7", "chr_pos": "142751896", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "I108", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P07477", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P07477" }, { "id": "rs1224059005", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1224059005" }, { "id": "rs1224059005", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1224059005#frequency_tab" }, { "id": "rs1224059005", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1224059005" }, { "id": "rs1224059005", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1224059005" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 135, "end_pos": 135, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (TGT->NGT).", "chr_id": "7", "chr_pos": "142751977", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T135", "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", 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disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P07477", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07477" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P07477", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07477" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P07477", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07477" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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": "P07477", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07477" } ], "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 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"A6XGL3", "url": "https://www.uniprot.org/uniprot/A6XGL3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6XGL3-1", "url": "https://www.uniprot.org/uniprot/A6XGL3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7EQ64", "url": "https://www.uniprot.org/uniprot/E7EQ64", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7EQ64-1", "url": "https://www.uniprot.org/uniprot/E7EQ64-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y8D1", "url": "https://www.uniprot.org/uniprot/H0Y8D1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y8D1-1", "url": "https://www.uniprot.org/uniprot/H0Y8D1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07477", "url": "https://www.uniprot.org/uniprot/P07477", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07477-1", "url": "https://www.uniprot.org/uniprot/P07477-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MNPLLILTFVAAALAAPFDDDDKIVGGYNCEENSVPYQVSLNSGYHFCGGSLINEQWVVSAGHCYKSRIQVRLGEHNIEVLEGNEQFINAAKIIRHPQYDRKTLNNDIMLIKLSSRAVINARVSTISLPTAPPATGTKCLISGWGNTASSGADYPDELQCLDAPVLSQAKCEASYPGKITSNMFCVGFLEGGKDSCQGDSGGPVVCNGQLQGVVSWGDGCAQKNKPGVYTKVYNYVKWIKNTIAANS", "length": 247, "header": "sp|P07477-1|TRY1_HUMAN Isoform 1 of Serine protease 1 OS=Homo sapiens OX=9606 GN=PRSS1 PE=1 SV=1 CANONICAL=P07477-1" }, "isoforms": [ { "isoform_ac": "A6XGL3-1", "url": "", "sequence": { "sequence": "MNPLLILTFVAAALAAPFDDDDKIVGGYNCEENSVPYQVSLNSGYHFCGGSLINEQWVVSAGHCYKSRIQVRLGEHNINAAKIIRHPQYDRKTLNNDIMLIKLSSRAVINARVSTISLPTAPPATGTKCLISGWGNTASSGADYPDELQCLDAPVLSQAKCEASYPGKITSNMFCVGFLEGGKDSCQGDSGGPVVCNGQLQGVVSWGDGCAQKNKPGVYTKVYNYVKWIKNTIAANS", "length": 237, "header": "tr|A6XGL3-1|A6XGL3_HUMAN Computationally mapped isoform of trypsin OS=Homo sapiens OX=9606 GN=PRSS1 PE=1 SV=1 CANONICAL=P07477-1" }, "locus": { "chromosome": "HSCHR7_2_CTG6", "start_pos": 755614, "end_pos": 752082, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000622109.1", "url": "https://www.ensembl.org/id/ENST00000622109.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000478237.1", "url": "https://www.ensembl.org/id/ENSP00000478237.1" } ] } }, { "isoform_ac": "E7EQ64-1", "url": "", "sequence": { "sequence": "MNPLLILTFVAAALAAPFDDDDKIVGGYNCEENSVPYQVSLNSGYHFCGGSLINEQWVVSAGHCYKSAIKSKFSGRGCEYHRIQVRLGEHNIEVLEGNEQFINAAKIIRHPQYDRKTLNNDIMLIKLSSRAVINARVSTISLPTAPPATGTKCLISGWGNTASSGADYPDELQCLDAPVLSQAKCEASYPGKITSNMFCVGFLEGGKDSCQGDSGGPVVCNGQLQGVVSWGDGCAQKNKPGVYTKVYNYVKWIKNTIAANS", "length": 261, "header": "tr|E7EQ64-1|E7EQ64_HUMAN Computationally mapped isoform of trypsin OS=Homo sapiens OX=9606 GN=PRSS1 PE=1 SV=1 CANONICAL=P07477-1" }, "locus": { "chromosome": "7", "start_pos": 142753017, "end_pos": 142749485, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000486171.5", "url": "https://www.ensembl.org/id/ENST00000486171.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000417854.1", "url": "https://www.ensembl.org/id/ENSP00000417854.1" } ] } }, { "isoform_ac": "H0Y8D1-1", "url": "", "sequence": { "sequence": "SLINEQWVVSAGHCYKSRIQVRLGEHNIEVLEGNEQFINAAKIIRHPQYDRKTLNNDIMLIKLSSRAVINARVSTISLPTAPPATGTKCLISGWGNTASSGADYPDELQCLDAPVLSQAKCEASYPGKITSNMFCVGFLEGG", "length": 142, "header": "tr|H0Y8D1-1|TRY1_HUMAN Computationally mapped isoform of Serine protease 1 OS=Homo sapiens OX=9606 GN=PRSS1 PE=1 SV=1 CANONICAL=P07477-1" }, "locus": { "chromosome": "7", "start_pos": 142752869, "end_pos": 142750665, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000492062.1", "url": "https://www.ensembl.org/id/ENST00000492062.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000419912.1", "url": "https://www.ensembl.org/id/ENSP00000419912.1" } ] } }, { "isoform_ac": "P07477-1", "url": "", "sequence": { "sequence": "MNPLLILTFVAAALAAPFDDDDKIVGGYNCEENSVPYQVSLNSGYHFCGGSLINEQWVVSAGHCYKSRIQVRLGEHNIEVLEGNEQFINAAKIIRHPQYDRKTLNNDIMLIKLSSRAVINARVSTISLPTAPPATGTKCLISGWGNTASSGADYPDELQCLDAPVLSQAKCEASYPGKITSNMFCVGFLEGGKDSCQGDSGGPVVCNGQLQGVVSWGDGCAQKNKPGVYTKVYNYVKWIKNTIAANS", "length": 247, "header": "sp|P07477-1|TRY1_HUMAN Isoform 1 of Serine protease 1 OS=Homo sapiens OX=9606 GN=PRSS1 PE=1 SV=1 CANONICAL=P07477-1" }, "locus": { "chromosome": "HSCHR7_2_CTG6", "start_pos": 755614, "end_pos": 752082, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000616256.4", "url": "https://www.ensembl.org/id/ENST00000616256.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000479217.1", "url": "https://www.ensembl.org/id/ENSP00000479217.1" } ] } } ], "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": 103, "start_aa": "Thr", "end_pos": 103, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr103", "evidence": [ { "id": "P07477", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P07477" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P07477", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07477" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" } ] } ], "phosphorylation": [ { "start_pos": 154, "end_pos": 154, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P07477", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07477" }, { "database": "PubMed", "id": "8683601", "url": "https://glygen.org/publication/PubMed/8683601" }, { "database": "phospho.ELM", "id": "P07477", "url": "http://phospho.elm.eu.org/byAccession/P07477.html" } ], "site_lbl": "Tyr154" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.", "journal": "Nature genetics", "date": "1999", "authors": "Aminoff M, Carter JE, Chadwick RB, Johnson C, Grasbeck R, Abdelaal MA, Broch H, Jenner LB, Verroust PJ, Moestrup SK, de la Chapelle A, Krahe R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9758881", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9758881" } ], "reference": [ { "type": "PubMed", "id": "10080186", "url": "https://glygen.org/publication/PubMed/10080186" } ] }, { "title": "Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis.", "journal": "Journal of medical genetics", "date": "1999", "authors": "Ferec C, Raguenes O, Salomon R, Roche C, Bernard JP, Guillot M, Quere I, Faure C, Mercier B, Audrezet MP, Guillausseau PJ, Dupont C, Munnich A, Bignon JD, Le Bodic L", "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprot/P07477" } ], "reference": [ { "type": "PubMed", "id": "10204851", "url": "https://glygen.org/publication/PubMed/10204851" } ] }, { "title": "A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis.", "journal": "Gastroenterology", "date": "1999", "authors": "Witt H, Luck W, Becker M", "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprot/P07477" } ], "reference": [ { "type": "PubMed", "id": "10381903", "url": "https://glygen.org/publication/PubMed/10381903" } ] }, { "title": "Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin.", "journal": "Blood", "date": "2000", "authors": "Kristiansen M, Aminoff M, Jacobsen C, de La Chapelle A, Krahe R, Verroust PJ, Moestrup SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-9758881", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9758881" } ], "reference": [ { "type": "PubMed", "id": "10887099", "url": "https://glygen.org/publication/PubMed/10887099" } ] }, { "title": "Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin activation.", "journal": "Gastroenterology", "date": "2000", "authors": "Teich N, Ockenga J, Hoffmeister A, Manns M, Mossner J, Keim V", "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprot/P07477" } ], "reference": [ { "type": "PubMed", "id": "10930381", "url": "https://glygen.org/publication/PubMed/10930381" } ] }, { "title": "Structure of a serpin-protease complex shows inhibition by deformation.", "journal": "Nature", "date": "2000", "authors": "Huntington J A, Read R J, Carrell R W", "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprot/P07477" } ], "reference": [ { "type": "PubMed", "id": "11057674", "url": "https://glygen.org/publication/PubMed/11057674" } ] }, { "title": "A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis.", "journal": "Journal of medical genetics", "date": "2000", "authors": "Chen JM, Raguenes O, Ferec C, Deprez PH, Verellen-Dumoulin C", "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprot/P07477" } ], "reference": [ { "type": "PubMed", "id": "11073545", "url": "https://glygen.org/publication/PubMed/11073545" } ] }, { "title": "Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis.", "journal": "Gut", "date": "2002", "authors": "Pfutzer R, Myers E, Applebaum-Shapiro S, Finch R, Ellis I, Neoptolemos J, Kant JA, Whitcomb DC", "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprot/P07477" } ], "reference": [ { "type": "PubMed", "id": "11788572", "url": "https://glygen.org/publication/PubMed/11788572" } ] }, { "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": "Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of further trypsinogen variants.", "journal": "The American journal of gastroenterology", "date": "2002", "authors": "Teich N, Bauer N, Mossner J, Keim V", "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprot/P07477" }, { "database": "Entrez", "id": "5644", "url": "https://www.ncbi.nlm.nih.gov/gene/5644" } ], "reference": [ { "type": "PubMed", "id": "11866271", "url": "https://glygen.org/publication/PubMed/11866271" } ] }, { "title": "Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.", "journal": "Nature genetics", "date": "2003", "authors": "Tanner SM, Aminoff M, Wright FA, Liyanarachchi S, Kuronen M, Saarinen A, Massika O, Mandel H, Broch H, de la Chapelle A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9758881", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9758881" } ], "reference": [ { "type": "PubMed", "id": "12590260", "url": "https://glygen.org/publication/PubMed/12590260" } ] }, { "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": "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": "Biochemical characterization of matrilysin. Activation conforms to the stepwise mechanisms proposed for other matrix metalloproteinases.", "journal": "Biochemistry", "date": "1992", "authors": "Crabbe T, Willenbrock F, Eaton D, Hynds P, Carne AF, Murphy G, Docherty AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1592389", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1592389" } ], "reference": [ { "type": "PubMed", "id": "1390635", "url": "https://glygen.org/publication/PubMed/1390635" } ] }, { "title": "The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless.", "journal": "Blood", "date": "2004", "authors": "Fyfe JC, Madsen M, Hojrup P, Christensen EI, Tanner SM, de la Chapelle A, He Q, Moestrup SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-9758881", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9758881" } ], "reference": [ { "type": "PubMed", "id": "14576052", "url": "https://glygen.org/publication/PubMed/14576052" } ] }, { "title": "Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2).", "journal": "Human mutation", "date": "2004", "authors": "Teich N, Le Marechal C, Kukor Z, Caca K, Witzigmann H, Chen JM, Toth M, Mossner J, Keim V, Ferec C, Sahin-Toth M", "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprot/P07477" } ], "reference": [ { "type": "PubMed", "id": "14695529", "url": "https://glygen.org/publication/PubMed/14695529" } ] }, { "title": "Activation mechanisms of the precursors of matrix metalloproteinases 1, 2 and 3.", "journal": "Matrix (Stuttgart, Germany). 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activity.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Pei D, Weiss SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1592389", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1592389" } ], "reference": [ { "type": "PubMed", "id": "8621565", "url": "https://glygen.org/publication/PubMed/8621565" } ] }, { "title": "Characterization of structural determinants and molecular mechanisms involved in pro-stromelysin-3 activation by 4-aminophenylmercuric acetate and furin-type convertases.", "journal": "The Biochemical journal", "date": "1996", "authors": "Santavicca M, Noel A, Angliker H, Stoll I, Segain JP, Anglard P, Chretien M, Seidah N, Basset P", "evidence": [ { "database": "Reactome", "id": "R-HSA-1592389", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1592389" } ], "reference": [ { "type": "PubMed", "id": "8645182", "url": "https://glygen.org/publication/PubMed/8645182" } ] }, { "title": "The complete 685-kilobase DNA sequence of the human beta T cell receptor locus.", "journal": "Science", "date": "1996", "authors": "Rowen L, Koop BF, Hood L", "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprot/P07477" } ], "reference": [ { "type": "PubMed", "id": "8650574", "url": "https://glygen.org/publication/PubMed/8650574" } ] }, { "title": "Cellular mechanisms for human procollagenase-3 (MMP-13) activation. 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Biol.", "date": "1996", "authors": "Gaboriaud C, Serre L, Guy-Crotte O, Forest E, Fontecilla-Camps JC", "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprot/P07477" }, { "database": "iPTMnet", "id": "P07477", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07477" } ], "reference": [ { "type": "PubMed", "id": "8683601", "url": "https://glygen.org/publication/PubMed/8683601" } ] }, { "title": "Activation of a recombinant membrane type 1-matrix metalloproteinase (MT1-MMP) by furin and its interaction with tissue inhibitor of metalloproteinases (TIMP)-2.", "journal": "FEBS letters", "date": "1996", "authors": "Sato H, Kinoshita T, Takino T, Nakayama K, Seiki M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1592389", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1592389" } ], "reference": [ { "type": "PubMed", "id": "8804434", "url": "https://glygen.org/publication/PubMed/8804434" } ] }, { "title": "Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.", "journal": "Nature genetics", "date": "1996", "authors": "Whitcomb DC, Gorry MC, Preston RA, Furey W, Sossenheimer MJ, Ulrich CD, Martin SP, Gates LK Jr, Amann ST, Toskes PP, Liddle R, McGrath K, Uomo G, Post JC, Ehrlich GD", "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprot/P07477" } ], "reference": [ { "type": "PubMed", "id": "8841182", "url": "https://glygen.org/publication/PubMed/8841182" } ] }, { "title": "Activation of type IV procollagenases by human tumor-associated trypsin-2.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Sorsa T, Salo T, Koivunen E, Tyynela J, Konttinen YT, Bergmann U, Tuuttila A, Niemi E, Teronen O, Heikkila P, Tschesche H, Leinonen J, Osman S, Stenman UH", "evidence": [ { "database": "Reactome", "id": "R-HSA-1592389", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1592389" } ], "reference": [ { "type": "PubMed", "id": "9261109", "url": "https://glygen.org/publication/PubMed/9261109" } ] }, { "title": "Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis.", "journal": "Gastroenterology", "date": "1997", "authors": "Gorry MC, Gabbaizedeh D, Furey W, Gates LK Jr, Preston RA, Aston CE, Zhang Y, Ulrich C, Ehrlich GD, Whitcomb DC", "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprot/P07477" } ], "reference": [ { "type": "PubMed", "id": "9322498", "url": "https://glygen.org/publication/PubMed/9322498" } ] }, { "title": "Activation of progelatinase B (proMMP-9) by active collagenase-3 (MMP-13).", "journal": "European journal of biochemistry", "date": "1997", "authors": "Knauper V, Smith B, Lopez-Otin C, Murphy G", "evidence": [ { "database": "Reactome", "id": "R-HSA-1592389", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1592389" } ], "reference": [ { "type": "PubMed", "id": "9346290", "url": "https://glygen.org/publication/PubMed/9346290" } ] }, { "title": "The TIMP2 membrane type 1 metalloproteinase `receptor` regulates the concentration and efficient activation of progelatinase A. 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"uniprot_canonical_ac": "Q792Z0-1", "protein_name": "Trypsinogen 11", "gene_name": "Prss3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MNALLILALVGAAVAFPVDDDDKIVGGYTCQENSVPYQVSLNSGYHFCGGSLINDQWVVSAAHCYKTRIQVRLGEHNINVLEGNEQFVNAAKIIKHPNFNRKTLNNDIMLLKLSSPVTLNARVATVALPSSCAPAGTQCLISGWGNTLSFGVSEPDLLQCLDAPLLPQADCEASYPGKITGNMVCAGFLEGGKDSCQGDSGGPVVCNRELQGIVSWGYGCALPDNPGVYTKVCNYVDWIQDTIAAN", "length": 246 }, "evidence": [ { "id": "45917843", "url": "http://www.informatics.jax.org/homology/45917843", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q792Z1-1", "protein_name": "trypsin", "gene_name": "Try10", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSTLLFLALVGAAVAFPVDDDDKIVGGYTCRENSVPYQVSLNSGYHFCGGSLINDQWVVSAAHCYKSRIQVRLGEHNINVLEGNEQFIDAANIIKHPKFKKKTLDNDIMLIKLSSPVTLNARVATVALPSSCAAAGTQCLISGWGNTLSSGVNNPDLLQCLDAPLLPQADCEASYPGKITKNMICVGFLEGGKDSCQGDSGGPVVCNGQLQGIVSWGYGCAQKDNPGVYTKVCNYVDWIQNTIAAN", "length": 246 }, "evidence": [ { "id": "45917836", "url": "http://www.informatics.jax.org/homology/45917836", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9QUK9-1", "protein_name": "Trypsin-5", "gene_name": "Try5", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MNSLLFLALVGAAVAFPVDDDDKIVGGYTCRENSIPYQVSLNSGYHFCGGSLINDQWVVSAAHCYKTRIQVRLGEHNINVLEGNEQFVNSAKIIKHPNFNSRTLNNDIMLIKLASPVTLNARVATVALPSSCAPAGTQCLISGWGNTLSFGVNNPDLLQCLDAPLLPQADCEASYPGKITNNMICVGFLEGGKDSCQGDSGGPVVCNGQLQGIVSWGYGCALKDNPGVYTKVCNYVDWIQDTIAAN", "length": 246 }, "evidence": [ { "id": "45917844", "url": "http://www.informatics.jax.org/homology/45917844", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9R0T7-1", "protein_name": "Trypsin-4", "gene_name": "Try4", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MRALLFLALVGAAVAFPVDDDDKIVGGYTCRENSVPYQVSLNSGYHFCGGSLINDQWVVSAAHCYKSRIQVRLGEHNINVLEGNEQFVNSAKIIKHPNFNSRTLNNDIMLIKLASPVTLNARVATVALPSSCAPAGTQCLISGWGNTLSFGVNNPDLLQCLDAPLLPQADCEASYPGKITNNMICVGFLEGGKDSCQGDSGGPVVCNGQLQGIVSWGYGCALKDNPGVYTKVCNYVDWIQNTIAAN", "length": 246 }, "evidence": [ { "id": "45917841", "url": "http://www.informatics.jax.org/homology/45917841", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9Z1R9-1", "protein_name": "Protease, serine 1 (trypsin 1)", "gene_name": "Prss1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSALLFLALVGAAVAFPVDDDDKIVGGYTCRENSVPYQVSLNSGYHFCGGSLINDQWVVSAAHCYKTRIQVRLGEHNINVLEGNEQFIDAAKIIKHPNFNRKTLNNDIMLIKLSSPVTLNARVATVALPSSCAPAGTQCLISGWGNTLSFGVSEPDLLQCLDAPLLPQADCEASYPGKITGNMVCAGFLEGGKDSCQGDSGGPVVCNGELQGIVSWGYGCALPDNPGVYTKVCNYVDWIQDTIAAN", "length": 246 }, "evidence": [ { "id": "45917845", "url": "http://www.informatics.jax.org/homology/45917845", "database": "MGI" } ], "common_name": "Mouse" }, { "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": 2, "go_terms": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprot/P07477" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprot/P07477" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprot/P07477" } ], "pmid": "" }, { "name": "extracellular matrix disassembly", "id": "GO:0022617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022617", "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprot/P07477" } ], "pmid": "" }, { "name": "digestion", "id": "GO:0007586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007586", "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprot/P07477" } ], "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": "P07477", "url": "https://www.uniprot.org/uniprot/P07477" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprot/P07477" } ], "pmid": "" }, { "name": "blood microparticle", "id": "GO:0072562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072562", "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprot/P07477" } ], "pmid": "" }, { "name": "collagen-containing extracellular matrix", "id": "GO:0062023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "database": "UniProtKB", "id": "P07477", "url": "https://www.uniprot.org/uniprot/P07477" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [ { "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": "P07477", "url": "https://www.uniprot.org/uniprot/P07477" }, { "database": "PubMed", "id": "25010489", "url": "https://glygen.org/publication/PubMed/25010489" } ] } ], "interactions": [], "reactions": [ { "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-1592371", "name": "Initial activation of proMMP3", "equation": "", "summary": "proMMP3 is activated in a similar manner to pro MMP1 but by a large number of proteinases, including bacterial thermolysin, all cleaving within the region residues 51-56 (Woessner & Nagase 2000). This initiates autocatalysis and cleavage of the His99-Phe100 bond (Nagase et al. 1990, 1991). Residue numbering given here is based on the UniProt canonical sequence.", "cellular_location": "extracellular region", "input_participant_list": [ "R-HSA-1604707" ], "output_participant_list": [ "R-HSA-1604705", "R-HSA-1604735" ], "enzyme_list": [ "P17538-1", "P00747-1", "P03952-1", "P07477-1", "P08254-1" ], "evidence": [ { "id": "R-HSA-1592371", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1592371" } ] }, { "id": "R-HSA-1592398", "name": "Activation of proMMP8", "equation": "", "summary": "proMMP8 is activated by tissue kallikrein, leukocyte elastase, trypsin and cathepsin G (Capodici et al. 1989, Knauper et al. 1990) probably at the predicted bait region, residues 30-36.", "cellular_location": "extracellular region", "input_participant_list": [ "R-HSA-1604708" ], "output_participant_list": [ "R-HSA-1442475" ], "enzyme_list": [ "P08246-1", "P00747-1", "P20151-1", "P07477-1", "P22894-1" ], "evidence": [ { "id": "R-HSA-1592398", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1592398" } ] }, { "id": "R-HSA-1602458", "name": "Activation of proMMP10", "equation": "", "summary": "proMMP10 is similar in sequence to proMMP3 with just one residue difference in the bait region. The activation mechanism is believed to be similar, namely cleavage in the N-terminal bait region, followed by autocatalytic cleavage at His81-Phe82 (Woessner & Nagasse 2000). proMMP10 is activated by plasmin, trypsin and chymotrypsin.", "cellular_location": "extracellular region", "input_participant_list": [ "R-HSA-1604748" ], "output_participant_list": [ "R-HSA-1442488" ], "enzyme_list": [ "P17538-1", "Q6GPI1-1", "P00747-1", "P09238-1", "P07477-1" ], "evidence": [ { "id": "R-HSA-1602458", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1602458" } ] }, { "id": "R-HSA-1602488", "name": "Initial activation of proMMP13 by plasmin and trypsin", "equation": "", "summary": "proMMP13 can be activated by plasmin and trypsin initially cleaving at Lys57-Glu58 followed by autoproteolysis at Glu103-Tyr104 (Knauper et al. 1996a).", "cellular_location": "extracellular region", "input_participant_list": [ "R-HSA-1604702" ], "output_participant_list": [ "R-HSA-1604698", "R-HSA-1604719" ], "enzyme_list": [ "P00747-1", "P45452-1", "P07477-1" ], "evidence": [ { "id": "R-HSA-1602488", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1602488" } ] }, { "id": "R-HSA-1604712", "name": "Initial activation of proMMP7 by trypsin", "equation": "", "summary": "proMMP7 (proMatrilysin-1) activation by trypsin occurs via an intermediate cleaved at Lys50-Asn51 which undergoes autocatalysis (Crabbe et al. 1992). Leukocyte elastase and plasmin partially activate MMP7 by an uncharacterized mechanism. Highly sulfated glycosaminoglycans (GAG), such as heparin, chondroitin-4,6-sulfate (CS-E), and dermatan sulfate, markedly enhance (>50-fold) the intermolecular autolytic activation of promatrilysin and the activity of fully active matrilysin (Ra et al. 2009).", "cellular_location": "extracellular region", "input_participant_list": [], "output_participant_list": [ "R-HSA-1604759" ], "enzyme_list": [ "P08246-1", "P00747-1", "P09237-1", "P07477-1" ], "evidence": [ { "id": "R-HSA-1604712", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1604712" } ] }, { "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-3132753", "name": "Pancreatic proteases degrade TCN1:RCbl", "equation": "", "summary": "In the proximal intestine, pancreatic enzymes degrade transcobalamin 1 (TCN1) to release cobalamins (RCbl). The two major pancreatic proteases are trypsins (PRSSs) and chymotrypsins (CTRBs) (Srikumar & Premalatha 2003, Nielsen et al. 2012).", "cellular_location": "extracellular region", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P17538-1", "Q6GPI1-1", "P07477-1", "P35030-1" ], "evidence": [ { "id": "R-HSA-3132753", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3132753" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-1442475", "participant_name": "MMP8 [extracellular region]", "crossref": [ { "id": "3.4.24.34", "database": "IntEnz", "url": "" }, { "id": "NP_002415.1", "database": "RefSeq", "url": "" }, { "id": "1I73", "database": "PDB", "url": "" }, { "id": "MMP8_HUMAN", "database": "ZINC - Metabolites", "url": "" }, { "id": "ENST00000236826", "database": "Ensembl", "url": "" }, { "id": "MMP8_HUMAN", "database": "ZINC - Substances", "url": "" }, { "id": "MMP8_HUMAN", "database": "ZINC - Biogenic", "url": "" }, { "id": "1MMB", "database": "PDB", "url": "" }, { "id": "1A85", "database": "PDB", "url": "" }, { "id": "1JAN", "database": "PDB", "url": "" }, { "id": "ENSG00000118113", "database": "Ensembl", "url": "" }, { "id": "1ZS0", "database": "PDB", "url": "" }, { "id": "1JJ9", "database": "PDB", "url": "" }, { "id": "3DPE", "database": "PDB", "url": "" }, { "id": "1JAP", "database": "PDB", "url": "" }, { "id": "1JAO", "database": "PDB", "url": "" }, { "id": "2OY4", "database": "PDB", "url": "" }, { "id": "HMDBP07814", "database": "HMDB Protein", "url": "" }, { "id": "1MNC", "database": "PDB", "url": "" }, { "id": "1JH1", "database": "PDB", "url": "" }, { "id": "MMP8_HUMAN", "database": "ZINC - 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"count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 13 }, { "field": "total_sites", "count": 13 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 84 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }