{
"uniprot_canonical_ac": "P08254-1",
"uniprot_ac": "P08254",
"uniprot_id": "MMP3_HUMAN",
"mass": {
"chemical_mass": 53977.0,
"monoisotopic_mass": 53977.0
},
"refseq": {
"ac": "NP_002413",
"name": "stromelysin-1 preproprotein",
"summary": "Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. This gene encodes an enzyme which degrades fibronectin, laminin, collagens III, IV, IX, and X, and cartilage proteoglycans. The enzyme is thought to be involved in wound repair, progression of atherosclerosis, and tumor initiation. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq, Jul 2008].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002413"
},
"gene_names": [
{
"name": "MMP3",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/P08254",
"id": "P08254"
},
{
"name": "CHDS6; MMP-3; SL-1; STMY; STMY1; STR1",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002413",
"id": "NP_002413"
},
{
"name": "MMP3",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002413",
"id": "NP_002413"
},
{
"name": "STMY1",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P08254",
"id": "P08254"
}
],
"protein_names": [
{
"name": "Stromelysin-1",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "P08254"
},
{
"name": "3.4.24.17",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P08254"
},
{
"name": "MMP-3",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P08254"
},
{
"name": "Matrix metalloproteinase-3",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P08254"
},
{
"name": "SL-1",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P08254"
},
{
"name": "Transin-1",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P08254"
},
{
"name": "proteoglycanase; matrix metalloproteinase 3 (stromelysin 1, progelatinase); transin-1; stromelysin-1",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002413",
"id": "NP_002413"
},
{
"name": "stromelysin-1 preproprotein",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002413",
"id": "NP_002413"
}
],
"function": [
{
"annotation": "Association of MMP3 gene polymorphism and sex on recovery of muscle strength after eccentric exercise.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_002413",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002413"
},
{
"database": "PubMed",
"id": "37471217",
"url": "https://glygen.org/publication/PubMed/37471217"
}
]
},
{
"annotation": "Association of MMP3, MMP14, and MMP25 gene polymorphisms with cerebral stroke risk: a case-control study. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_002413",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002413"
},
{
"database": "PubMed",
"id": "37986083",
"url": "https://glygen.org/publication/PubMed/37986083"
}
]
},
{
"annotation": "Genetic Variants in Matrix Metalloproteinases MMP3 (rs3025058) and MMP9 (rs3918242) Associated with Colonic Diverticulosis. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_002413",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002413"
},
{
"database": "PubMed",
"id": "38004080",
"url": "https://glygen.org/publication/PubMed/38004080"
}
]
},
{
"annotation": "MMP-3 -1171 5A/6A promoter polymorphism and cancer susceptibility: an updated meta-analysis and trial sequential analysis. Review article",
"evidence": [
{
"database": "RefSeq",
"id": "NP_002413",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002413"
},
{
"database": "PubMed",
"id": "37551683",
"url": "https://glygen.org/publication/PubMed/37551683"
}
]
},
{
"annotation": "Metalloproteinase with a rather broad substrate specificity that can degrade fibronectin, laminin, gelatins of type I, III, IV, and V; collagens III, IV, X, and IX, and cartilage proteoglycans. Activates different molecules including growth factors, plasminogen or other matrix metalloproteinases such as MMP9 (PubMed:11029580, PubMed:1371271). Once released into the extracellular matrix (ECM), the inactive pro-enzyme is activated by the plasmin cascade signaling pathway (PubMed:2383557). Acts also intracellularly (PubMed:22265821). For example, in dopaminergic neurons, gets activated by the serine protease HTRA2 upon stress and plays a pivotal role in DA neuronal degeneration by mediating microglial activation and alpha-synuclein/SNCA cleavage (PubMed:21330369). In addition, plays a role in immune response and possesses antiviral activity against various viruses such as vesicular stomatitis virus, influenza A virus (H1N1) and human herpes virus 1 (PubMed:35940311). Mechanistically, translocates from the cytoplasm into the cell nucleus upon virus infection to influence NF-kappa-B activities (PubMed:35940311).",
"evidence": [
{
"database": "UniProtKB",
"id": "P08254",
"url": "https://www.uniprot.org/uniprot/P08254#function"
},
{
"database": "PubMed",
"id": "22265821",
"url": "https://glygen.org/publication/PubMed/22265821"
},
{
"database": "PubMed",
"id": "35940311",
"url": "https://glygen.org/publication/PubMed/35940311"
},
{
"database": "PubMed",
"id": "1371271",
"url": "https://glygen.org/publication/PubMed/1371271"
},
{
"database": "PubMed",
"id": "2383557",
"url": "https://glygen.org/publication/PubMed/2383557"
},
{
"database": "PubMed",
"id": "21330369",
"url": "https://glygen.org/publication/PubMed/21330369"
},
{
"database": "PubMed",
"id": "11029580",
"url": "https://glygen.org/publication/PubMed/11029580"
}
]
},
{
"annotation": "Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. This gene encodes an enzyme which degrades fibronectin, laminin, collagens III, IV, IX, and X, and cartilage proteoglycans. The enzyme is thought to be involved in wound repair, progression of atherosclerosis, and tumor initiation. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq, Jul 2008].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_002413",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002413"
}
]
},
{
"annotation": "Transcriptomic discovery of a theranostic signature (SERPINE1/MMP3/COL1A1/SPP1) for head and neck squamous cell carcinomas and identification of antrocinol as a candidate drug.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_002413",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002413"
},
{
"database": "PubMed",
"id": "37859283",
"url": "https://glygen.org/publication/PubMed/37859283"
}
]
}
],
"disease": [
{
"disease_id": "MONDO:0013765",
"recommended_name": {
"id": "MONDO:0013765",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013765",
"name": "coronary heart disease, susceptibility to, 6",
"description": "Any coronary artery disease in which the cause of the disease is a mutation in the MMP3 gene."
},
"synonyms": [
{
"id": "MONDO:0013765",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013765",
"name": "MMP3 coronary artery disease",
"description": ""
},
{
"id": "MONDO:0013765",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013765",
"name": "coronary artery disease caused by mutation in MMP3",
"description": ""
},
{
"id": "MONDO:0013765",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013765",
"name": "coronary heart disease, susceptibility to, 6",
"description": ""
},
{
"id": "MONDO:0013765",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013765",
"name": "coronary heart disease, susceptibility to, type 6",
"description": ""
},
{
"id": "MONDO:0013765",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013765",
"name": "CHDS6",
"description": ""
},
{
"id": "MONDO:0013765",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013765",
"name": "susceptibility to coronary heart disease 6",
"description": ""
},
{
"id": "MIM:614466",
"resource": "MIM",
"url": "https://www.omim.org/entry/614466",
"name": "Coronary heart disease 6",
"description": "Coronary heart disease 6"
}
],
"evidence": [
{
"id": "614466",
"database": "MIM",
"url": "https://www.omim.org/entry/614466"
}
]
}
],
"snv": [
{
"evidence": [
{
"id": "P08254",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08254"
},
{
"id": "rs1453941959",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1453941959"
},
{
"id": "rs1453941959",
"database": "NCI-TCGA",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1453941959"
},
{
"id": "rs1453941959",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs1453941959#frequency_tab"
},
{
"id": "rs1453941959",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1453941959"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
"start_pos": 205,
"end_pos": 205,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "K",
"sequence_mut": "N",
"comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KDT->NDT).",
"chr_id": "11",
"chr_pos": "102842164",
"ref_nt": "C",
"alt_nt": "A",
"minor_allelic_frequency": "",
"site_lbl": "K205",
"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"
}
]
}
],
"keywords": [
"biomuta",
"somatic",
"cancer",
"disease",
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs782178458",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782178458"
},
{
"id": "rs782178458",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782178458"
},
{
"id": "rs782178458",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs782178458#frequency_tab"
},
{
"id": "rs782178458",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs782178458"
}
],
"glycoeffect": [
"o-glyco-site-loss"
],
"start_pos": 277,
"end_pos": 277,
"sequence_org": "T",
"sequence_mut": "A",
"comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).",
"chr_id": "11",
"chr_pos": "102840214",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "T277",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs565138607",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565138607"
},
{
"id": "rs565138607",
"database": "1000Genomes",
"url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs565138607"
},
{
"id": "rs565138607",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565138607"
},
{
"id": "rs565138607",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs565138607#frequency_tab"
},
{
"id": "rs565138607",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs565138607"
}
],
"glycoeffect": [
"o-glyco-site-loss"
],
"start_pos": 277,
"end_pos": 277,
"sequence_org": "T",
"sequence_mut": "M",
"comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->M).",
"chr_id": "11",
"chr_pos": "102840213",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "0.000399",
"site_lbl": "T277",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "P08254",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08254"
},
{
"id": "rs149156238",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149156238"
},
{
"id": "rs149156238",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149156238"
},
{
"id": "rs149156238",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs149156238#frequency_tab"
},
{
"id": "rs149156238",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs149156238"
}
],
"glycoeffect": [
"o-glyco-site-loss"
],
"start_pos": 286,
"end_pos": 286,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "T",
"sequence_mut": "M",
"comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (T->M).",
"chr_id": "11",
"chr_pos": "102840186",
"ref_nt": "G",
"alt_nt": "A",
"minor_allelic_frequency": "",
"site_lbl": "T286",
"disease": [
{
"disease_id": "DOID:1319",
"recommended_name": {
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "brain cancer",
"description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain."
},
"synonyms": [
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "BT - Brain tumour",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "adult brain tumor",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
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{
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{
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{
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{
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{
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{
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"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": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterus neoplasm",
"description": ""
}
]
}
],
"keywords": [
"biomuta",
"somatic",
"cancer",
"disease"
]
},
{
"evidence": [
{
"id": "rs1357499164",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1357499164"
},
{
"id": "rs1357499164",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs1357499164#frequency_tab"
},
{
"id": "rs1357499164",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1357499164"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 418,
"end_pos": 418,
"sequence_org": "M",
"sequence_mut": "T",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSM->NST).",
"chr_id": "11",
"chr_pos": "102837378",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "M418",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs138229802",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138229802"
},
{
"id": "rs138229802",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs138229802#frequency_tab"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
"start_pos": 471,
"end_pos": 471,
"sequence_org": "S",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SNS->NNS).",
"chr_id": "11",
"chr_pos": "102836148",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S471",
"keywords": [
"ebi",
"germline"
]
}
],
"mutagenesis": [],
"expression_tissue": [
{
"tissue": {
"name": "Adult mammalian kidney",
"namespace": "UBERON",
"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
},
"score": "54.35",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000149968",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000149968"
}
]
},
{
"tissue": {
"name": "Oral cavity",
"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
},
"score": "42.12",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000149968",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000149968"
}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
},
"score": "59.65",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000149968",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000149968"
}
]
},
{
"tissue": {
"name": "Uterus",
"namespace": "UBERON",
"id": "0000995",
"url": "http://purl.obolibrary.org/obo/UBERON_0000995"
},
"score": "49.96",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000149968",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000149968"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "74.29",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000149968",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000149968"
}
]
},
{
"tissue": {
"name": "Rectum",
"namespace": "UBERON",
"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "71.23",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000149968",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000149968"
}
]
},
{
"tissue": {
"name": "Colon",
"namespace": "UBERON",
"id": "0001155",
"url": "http://purl.obolibrary.org/obo/UBERON_0001155"
},
"score": "47.76",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000149968",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000149968"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
"namespace": "UBERON",
"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "61.22",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000149968",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000149968"
}
]
},
{
"tissue": {
"name": "Thyroid gland",
"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "50.49",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000149968",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000149968"
}
]
},
{
"tissue": {
"name": "Lung",
"namespace": "UBERON",
"id": "0002048",
"url": "http://purl.obolibrary.org/obo/UBERON_0002048"
},
"score": "47.6",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000149968",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000149968"
}
]
},
{
"tissue": {
"name": "Liver",
"namespace": "UBERON",
"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
},
"score": "36.89",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000149968",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000149968"
}
]
},
{
"tissue": {
"name": "Prostate gland",
"namespace": "UBERON",
"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "59.98",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000149968",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000149968"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
"namespace": "UBERON",
"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "74.95",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000149968",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000149968"
}
]
}
],
"expression_disease": [
{
"significant": "No",
"trend": "up",
"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
"evidence": [
{
"database": "BioXpress",
"id": "P08254",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08254"
}
],
"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, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, type 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "HPC9",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "EHBP1 familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "familial prostate cancer caused by mutation in EHBP1",
"description": ""
},
{
"id": "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",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "MSMB familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "familial prostate cancer caused by mutation in MSMB",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, type 13",
"description": ""
},
{
"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, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, hereditary",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "HPC7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "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": "Yes",
"trend": "up",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "P08254",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08254"
}
],
"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",
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"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": "No",
"trend": "up",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
"evidence": [
{
"database": "BioXpress",
"id": "P08254",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08254"
}
],
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{
"disease_id": "DOID:11054",
"recommended_name": {
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"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 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 of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumour",
"description": ""
},
{
"id": "MIM:109800",
"resource": "MIM",
"url": "https://www.omim.org/entry/109800",
"name": "Bladder cancer",
"description": "Bladder cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
"evidence": [
{
"database": "BioXpress",
"id": "P08254",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08254"
}
],
"disease": [
{
"disease_id": "DOID:11934",
"recommended_name": {
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"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": "P08254",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08254"
}
],
"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": "P08254",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08254"
}
],
"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": "P08254",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08254"
}
],
"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": "P08254",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08254"
}
],
"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": "P08254",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08254"
}
],
"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": "No",
"trend": "up",
"name": "Uterine cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:363",
"evidence": [
{
"database": "BioXpress",
"id": "P08254",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08254"
}
],
"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": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine tumor",
"description": ""
},
{
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"id": "GO:0004222",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222",
"evidence": [
{
"database": "UniProtKB",
"id": "P08254",
"url": "https://www.uniprot.org/uniprot/P08254"
}
],
"pmid": ""
},
{
"name": "serine-type endopeptidase activity",
"id": "GO:0004252",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252",
"evidence": [
{
"database": "UniProtKB",
"id": "P08254",
"url": "https://www.uniprot.org/uniprot/P08254"
}
],
"pmid": ""
},
{
"name": "metallopeptidase activity",
"id": "GO:0008237",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008237",
"evidence": [
{
"database": "UniProtKB",
"id": "P08254",
"url": "https://www.uniprot.org/uniprot/P08254"
}
],
"pmid": ""
},
{
"name": "zinc ion binding",
"id": "GO:0008270",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270",
"evidence": [
{
"database": "UniProtKB",
"id": "P08254",
"url": "https://www.uniprot.org/uniprot/P08254"
}
],
"pmid": ""
},
{
"name": "peptidase activity",
"id": "GO:0008233",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233",
"evidence": [
{
"database": "UniProtKB",
"id": "P08254",
"url": "https://www.uniprot.org/uniprot/P08254"
}
],
"pmid": ""
}
]
},
{
"name": "Cellular Component",
"total": 5,
"go_terms": [
{
"name": "extracellular region",
"id": "GO:0005576",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576",
"evidence": [
{
"database": "UniProtKB",
"id": "P08254",
"url": "https://www.uniprot.org/uniprot/P08254"
}
],
"pmid": ""
},
{
"name": "extracellular space",
"id": "GO:0005615",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615",
"evidence": [
{
"database": "UniProtKB",
"id": "P08254",
"url": "https://www.uniprot.org/uniprot/P08254"
}
],
"pmid": ""
},
{
"name": "nucleus",
"id": "GO:0005634",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634",
"evidence": [
{
"database": "UniProtKB",
"id": "P08254",
"url": "https://www.uniprot.org/uniprot/P08254"
}
],
"pmid": ""
},
{
"name": "cytoplasm",
"id": "GO:0005737",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737",
"evidence": [
{
"database": "UniProtKB",
"id": "P08254",
"url": "https://www.uniprot.org/uniprot/P08254"
}
],
"pmid": ""
},
{
"name": "extracellular matrix",
"id": "GO:0031012",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012",
"evidence": [
{
"database": "UniProtKB",
"id": "P08254",
"url": "https://www.uniprot.org/uniprot/P08254"
}
],
"pmid": ""
}
]
},
{
"name": "Biological Process",
"total": 13,
"go_terms": [
{
"name": "proteolysis",
"id": "GO:0006508",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508",
"evidence": [
{
"database": "UniProtKB",
"id": "P08254",
"url": "https://www.uniprot.org/uniprot/P08254"
}
],
"pmid": ""
},
{
"name": "extracellular matrix disassembly",
"id": "GO:0022617",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022617",
"evidence": [
{
"database": "UniProtKB",
"id": "P08254",
"url": "https://www.uniprot.org/uniprot/P08254"
}
],
"pmid": ""
},
{
"name": "extracellular matrix organization",
"id": "GO:0030198",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198",
"evidence": [
{
"database": "UniProtKB",
"id": "P08254",
"url": "https://www.uniprot.org/uniprot/P08254"
}
],
"pmid": ""
},
{
"name": "innate immune response",
"id": "GO:0045087",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087",
"evidence": [
{
"database": "UniProtKB",
"id": "P08254",
"url": "https://www.uniprot.org/uniprot/P08254"
}
],
"pmid": ""
},
{
"name": "response to amyloid-beta",
"id": "GO:1904645",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904645",
"evidence": [
{
"database": "UniProtKB",
"id": "P08254",
"url": "https://www.uniprot.org/uniprot/P08254"
}
],
"pmid": ""
},
{
"name": "cellular response to lipopolysaccharide",
"id": "GO:0071222",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222",
"evidence": [
{
"database": "UniProtKB",
"id": "P08254",
"url": "https://www.uniprot.org/uniprot/P08254"
}
],
"pmid": ""
},
{
"name": "positive regulation of protein-containing complex assembly",
"id": "GO:0031334",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031334",
"evidence": [
{
"database": "UniProtKB",
"id": "P08254",
"url": "https://www.uniprot.org/uniprot/P08254"
}
],
"pmid": ""
},
{
"name": "negative regulation of reactive oxygen species metabolic process",
"id": "GO:2000378",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000378",
"evidence": [
{
"database": "UniProtKB",
"id": "P08254",
"url": "https://www.uniprot.org/uniprot/P08254"
}
],
"pmid": ""
},
{
"name": "collagen catabolic process",
"id": "GO:0030574",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030574",
"evidence": [
{
"database": "UniProtKB",
"id": "P08254",
"url": "https://www.uniprot.org/uniprot/P08254"
}
],
"pmid": ""
},
{
"name": "cellular response to reactive oxygen species",
"id": "GO:0034614",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034614",
"evidence": [
{
"database": "UniProtKB",
"id": "P08254",
"url": "https://www.uniprot.org/uniprot/P08254"
}
],
"pmid": ""
},
{
"name": "cellular response to nitric oxide",
"id": "GO:0071732",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071732",
"evidence": [
{
"database": "UniProtKB",
"id": "P08254",
"url": "https://www.uniprot.org/uniprot/P08254"
}
],
"pmid": ""
},
{
"name": "cellular response to UV-A",
"id": "GO:0071492",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071492",
"evidence": [
{
"database": "UniProtKB",
"id": "P08254",
"url": "https://www.uniprot.org/uniprot/P08254"
}
],
"pmid": ""
},
{
"name": "regulation of neuroinflammatory response",
"id": "GO:0150077",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150077",
"evidence": [
{
"database": "UniProtKB",
"id": "P08254",
"url": "https://www.uniprot.org/uniprot/P08254"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [
{
"name": "stromelysin-1 O-glycosylated 1 (human)",
"definition": "A stromelysin-1 (human) that has been O-glycosylated at the residue equivalent to Thr-277 of the amino acid sequence represented by UniProtKB:P08254-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P08254-1, Thr-277, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]",
"evidence": [
{
"id": "PR:000054443",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000054443"
}
]
},
{
"name": "stromelysin-1 O-glycosylated 2 (human)",
"definition": "A stromelysin-1 (human) that has been O-glycosylated at the residue equivalent to Thr-286 of the amino acid sequence represented by UniProtKB:P08254-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P08254-1, Thr-286, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]",
"evidence": [
{
"id": "PR:000054444",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000054444"
}
]
}
],
"site_annotation": [
{
"start_pos": 120,
"end_pos": 122,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 398,
"end_pos": 400,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [
{
"annotation": "Directly cleaved by HTRA2 to produce active form.",
"evidence": [
{
"database": "UniProtKB",
"id": "P08254",
"url": "https://www.uniprot.org/uniprot/P08254"
},
{
"database": "PubMed",
"id": "22265821",
"url": "https://glygen.org/publication/PubMed/22265821"
}
]
}
],
"interactions": [],
"reactions": [
{
"id": "R-HSA-1454757",
"name": "Gelatin degradation by MMP1, 2, 3, 7, 8, 9, 12, 13",
"equation": "",
"summary": "Gelatin is formed when collagen becomes partly or completely uncoiled when compared with the regular triple helix structure of fibrillar collagen. In vivo, once collagens are initially cleaved into clasical 3/4 and 1/4 fragments (by collagenases) they rapidly denature at body temperature and are degraded by gelatinases and other nonspecific tissue proteinases (Chung et al. 2004) to a semi-solid colloid gel. MMP2 and MMP9 are the major gelatinases (Collier et al. 1988, Wilhelm et al. 1989) often referred to respectively as Gelatinase A and Gelatinase B (Murphy & Crabbe 1995). However many other MMPs have gelatinase activity, including MMP1 (Murphy et al. 1982, Isaksen & Fagerhol 2001, Chung et al. 2004), MMP3 (Chin et al. 1985, Isaksen & Fagerhol 2001), MMP7 (Isaksen & Fagerhol 2001), MMP8 (Isaksen & Fagerhol 2001) MMP10 (Sanches-Lopez et al. 1993), MMP12 (Chandler et al. 1996), MMP13 (Kn\u00e4uper et al. 1993, Isaksen & Fagerhol 2001), MMP16 (Shofuda et al. 1997), MMP17 (Wang et al. 1999), MMP18 (Spinucci et al. 1988), MMP19 (Stracke et al. 2000) and MMP22 (Yang & Kurkinen 1998).",
"cellular_location": "extracellular region",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P03956-1",
"P39900-1",
"P14780-1",
"P08253-1",
"P45452-1",
"P09237-1",
"P08254-1",
"P22894-1"
],
"evidence": [
{
"id": "R-HSA-1454757",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1454757"
}
]
},
{
"id": "R-HSA-1454781",
"name": "MMP1,3,13 (2, 7-12, 19) binding by Alpha-2 macroglubulin",
"equation": "",
"summary": "Alpha 2-macroglobulin (A2M) is a plasma glycoprotein consisting of 4 near-identical subunits (Andersen et al. 1995). A2M inhibits almost all endopeptidases regardless of their specificities (Barrett 1981). A2M binding to an endopeptidase is triggered by cleavage of a peptide bond in the 'bait region' of A2M, triggering a conformational change in A2M that in turn entraps the peptidase without blocking the active site (Barrett & Starkey 1973). This blocks enzyme activity against large protein substrates while not preventing activity on low molecular weight substrates.
Once bound, A2M-proteinase complexes are endocytosed by low density lipoprotein receptor-related protein-1 (LRP1) (Strickland et al. 1990).
Active metalloproteinases (MMPs) that can be entrapped by A2M include MMP3 (Enghild et al. 1989) MMP1 (Grinnell et al. 1998) and MMP 13 (Beekman et al. 1999).
The significance of this mechanism as a regulator of MMP activity is unclear (Baker et al. 2002, Nagase et al. 2006).",
"cellular_location": "extracellular region",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P03956-1",
"P39900-1",
"P14780-1",
"P08253-1",
"P24347-1",
"P45452-1",
"P09238-1",
"P09237-1",
"P08254-1",
"O60882-1",
"P22894-1",
"Q99542-1"
],
"evidence": [
{
"id": "R-HSA-1454781",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1454781"
}
]
},
{
"id": "R-HSA-1454843",
"name": "E-cadherin degradation by MMP3, MMP7 and plasmin.",
"equation": "",
"summary": "E-cadherin (CDH1) localizes to the lateral membrane of differentiated epithelia, providing the structural foundation for adherens junctions, multiprotein complexes that link cell-cell contacts to the actin cytoskeleton and various signaling molecules (Perez-Moreno et al. 2003, Baum & Georgiou 2011). The extracellular domain has five cadherin-type repeat ectodomain (EC) modules; the most membrane-distal EC mediates binding with CDH1 on adjacent cells (Boggon et al. 2002). Calcium ions bind between the EC domains of two CDH1 peptides to form a dimer with a rod-like conformation (Boggon et al. 2002) which is required for cell-cell interaction (Gumbiner 1996, Patel et al. 2006). The cytoplasmic tail of E-cadherin binds to the armadillo repeat protein beta-catenin, a target of the Wnt signaling pathway and a cofactor for TCF/LEF-mediated transcription (Gavard & M\u00e8ge 2005). Beta-catenin in turn binds alpha-catenin, which interacts with the actin microfilament network, actin and the actin-binding proteins vinculin, formins, alpha-actinin, zonula occludin protein, and afadin (Bershadsky 2004). Cell\u2013cell adhesions also contain desmosomes, which link cell contacts to intermediate filaments, and nectin-based, calcium-independent adhesions, which are linked to actin (Takai & Nakanishi 2003, Yin and Green 2004). The critical importance of E-cadherin to normal development and tissue function is demonstrated by embryonic lethal E-cadherin gene mouse knockouts (Larue et al. 1994). Loss of cadherin-based cell-cell adhesion is a hallmark of carcinogenesis, correlating with tumour progression, allowing cells to escape normal growth control signals, resulting in loss of differentiation and increased cell proliferation associated with invasive behaviour (Frixen et al. 1991, Capaldo & Macara 2007). ; ; Full-length 120-kDa CDH1 protein is cleaved in the ectodomain close to the plasma membrane by a number of metalloproteases, generating an extracellular 38-kDa C-terminal fragment (CTF) termed CTF1 which can be further processed by a gamma-secretase-like activity to a soluble 33-kDa CTF2 (Marambaud et al. 2002, Roy & Berx 2008). MMP3, MMP7 (No\u00eb et al. 2001, canine MMPs), MMP9 (Symowicz et al. 2007), plasmin (Ryniers et al. 2002, canine plasmin), Kallikrien 7 (Johnson et al. 2007), ADAM10 (Maretzky et al. 2005) and ADAM15 (Najy et al. 2008) all cleave CDH1 extracellularly, close to the transmembrane region. ; ; Presenilin-1 (Marambaud et al. 2002), the catalytic subunit of gamma-secretase (Herreman et al. 2003, Li et al. 2003), cleaves CDH1 producing a soluble 33-kDa fragment termed CTF2. Other enzymes like caspase-3 (Steinhusen et al. 2001) and calpain-1 (Rios-Doria et al. 2003) cleave E-cadherin in its cytoplasmic part releasing an intracellular 37 kDa C-terminal fragment.",
"cellular_location": "extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P00747-1",
"P09237-1",
"P08254-1"
],
"evidence": [
{
"id": "R-HSA-1454843",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1454843"
}
]
},
{
"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-1564120",
"name": "Collagen type VII degradation by MMP1,2,3",
"equation": "",
"summary": "Type VII collagen is the major collagen component of anchoring fibrils, which are essential for the attachment of the epidermis to the dermis. It is degraded by MMP1 (Seltzer et al. 1989), MMP2 (Seltzer et al. 1989, Sawamura et al. 1991, Karelina et al. 2000) and MMP3 (Sawamura et al. 1991). MMP2 is 3000-fold more active than MMP1 (Seltzer et al. 1989).",
"cellular_location": "extracellular region",
"input_participant_list": [
"R-HSA-2214333"
],
"output_participant_list": [
"R-HSA-2470309"
],
"enzyme_list": [
"P03956-1",
"P08253-1",
"P08254-1"
],
"evidence": [
{
"id": "R-HSA-1564120",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1564120"
}
]
},
{
"id": "R-HSA-1564142",
"name": "Collagen type IV degradation by MMP2,3,4,9,10,12",
"equation": "",
"summary": "Type IV collagen is the most abundant structural basement membrane (BM) component, providing a scaffold for other major BM proteins such as laminin (Charonis et al. 1985, 1986). There are six different genes encoding type IV collagen chains, alpha-1 to alpha-6(IV) with distinct tissue distributions. Three alpha chains fold to form the triple helical unit of collagen IV. Three chain combinations have been identified, alpha-1X2 alpha-2(IV), alpha-3,alpha-4, alpha-5(IV) and alpha-5X2, alpha-6(IV) (Borza et al. 2001). The first is the major form, found in all basement membranes, the other types have more restricted distributions.
Collagen IV forms a lattice network rather than extended fibrils. It can be digested by MMP2 (Liotta et al. 1981, Salo et al. 1983, Bergers et al. 2000, Monaco et al. 2006), MMP3 (Okada et al. 1986, Wilhelm et al. 1987, Bejarano et al. 1988, Nicholson et al. 1989), MMP7 (Miyazaki et al. 1990, Murphy et al. 1991), MMP9 (Moll et al. 1990, Morodomi et al. 1992, Murphy et al. 1991, Watanabe et al. 1993, Bergers et al. 2000), MMP10 (Nicholson et al. 1989) and MMP12 (Chandler et al. 1996).",
"cellular_location": "extracellular region",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P39900-1",
"P14780-1",
"P08253-1",
"P09238-1",
"P09237-1",
"P08254-1"
],
"evidence": [
{
"id": "R-HSA-1564142",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1564142"
}
]
},
{
"id": "R-HSA-1564179",
"name": "Collagen type XI degradation by MMP1,2,3,9",
"equation": "",
"summary": "Collagen type XI has 3 types of alpha chain. The alpha1(XI) and alpha2(XI) chains are distinct gene products unique to collagen XI, while alpha3(XI) is a hyperglycosylated form of the alpha1 chain for collagen II (Burgeson & Hollister 1979, Morris & B\u00e4chinger 1987). Collagen type XI is a fibril-forming collagen found in conjunction with collagens type II and IX in cartilage fibrils (Miller & Gay 1987, Mendler et al. 1989). It is thought to be the structural equivalent of collagen V in connective tissue collagen fibrils. The formation of cartilage collagen fibrils requires collagen XI, suggesting a regulatory function (Li et al. 1995, Wu & Eyre 1995).
Mutations in COL11A1 result in fibrochondrogenesis, a severe, autosomal-recessive, short-limbed skeletal dysplasia (Tompson et al. 2010). Variations in COL11A1, COL11A2 and COL2A1 are associated with the inherited chondrodysplasias Marshall and Stickler syndromes (Annunen et al. 1999).
Collagen type XI is degraded by MMP1 (Eyre et al. 1984), MMP2 (Yu et al. 1990, Smith et al. 1991, Brown et al. 1996), MMP3 (Wu et al. 1991) and MMP9 (Hirose et al. 1992, Pormotabbed et al. 1994).",
"cellular_location": "extracellular region",
"input_participant_list": [
"R-HSA-2168008"
],
"output_participant_list": [
"R-HSA-2470603"
],
"enzyme_list": [
"P03956-1",
"P14780-1",
"P08253-1",
"P08254-1"
],
"evidence": [
{
"id": "R-HSA-1564179",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1564179"
}
]
},
{
"id": "R-HSA-1564184",
"name": "Collagen type IX degradation by MMP3,13",
"equation": "",
"summary": "Type IX collagen interacts covalently with type II collagen fibril surfaces, suggesting that it represents a macromolecular bridge between fibrils and other cartilage matrix components (Eyre et al. 1987, Olsen 1997). Degradation of type IX (and type II) collagen is seen at the onset of inflammatory arthritis (Kojima et al. 2001).
Collagen type IX is cleaved by MMP3 (Okada et al. 1989, Eyre et al. 1991, Wu et al. 1991) and MMP13 (Knauper et al. 1997).",
"cellular_location": "extracellular region",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P45452-1",
"P08254-1"
],
"evidence": [
{
"id": "R-HSA-1564184",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1564184"
}
]
},
{
"id": "R-HSA-1566962",
"name": "Elastin degradation by elastin-degrading extracellular proteinases",
"equation": "",
"summary": "The elastin component of elastic fibres is degraded to soluble fragments by MMP2 (Murphy et al. 1991), MMP7 (Quantin et al. 1989, Murphy et al. 1991), MMP9 (Murphy et al. 1991, Katsuda et al. 1994) and MMP12 (macrophage elastase) (Shapiro et al. 1993, Taddese et al. 2008), and to a limited extent by MMP3 and 10 (Murphy et al. 1991). In addition, elastin is a substrate for neutrophil elastase (Reilly & Travis 1980).
Eighty-nine tropoelastin cleavage sites were identified for MMP-12, whereas MMP-7 and MMP-9 were found to cleave at only 58 and 63 sites, respectively (Heinz et al. 2010).",
"cellular_location": "extracellular region",
"input_participant_list": [
"R-HSA-2161232"
],
"output_participant_list": [
"R-HSA-2514799"
],
"enzyme_list": [
"P08246-1",
"P39900-1",
"P14780-1",
"P08253-1",
"P09238-1",
"P09237-1",
"P08254-1"
],
"evidence": [
{
"id": "R-HSA-1566962",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1566962"
}
]
},
{
"id": "R-HSA-1566979",
"name": "Laminin-332 degradation by laminin-322 degrading extracellular proteinases",
"equation": "",
"summary": "Laminins are an important molecular component of the basement membranes (BMs) in a variety of tissue types. They have a cruciform shape, and are composed of three chains, alpha, beta and gamma., all of which have multiple subtypes. At the ultrastructural level, each laminin trimer appears as a cross-like structure with a large globular domain (LG domain) at the base of the cross. The LG domain is the C-terminal domain of the alpha subunit; it is divided into five homologous subdomains LG1-5 (Sugawara et al. 2008). Keratinocytes of the skin secrete numerous laminin isoforms, including laminin-511 and laminin-332. ; ; Laminin-332 undergoes extensive proteolysis following secretion, which is essential for laminin-332 integration into the BM (Rousselle & Beck 2013). The 200 kDa alpha-3 subunit of laminin-332 is cleaved between the LG3-LG4 subdomains to generate a 165 kDa product. The 160 kDa gamma-2 subunit is cleaved at its N-terminus to produce a 105 kDa protein (Marinkovich et al. 1992). Tissue remodeling may lead to further proteolysis of the 105 kDa subunit within the N-terminus giving rise to a 80 kDa protein (Gianelli et al. 1997, Koshikawa et al. 2005). The resulting N-terminal fragment has EGF-like properties and may activate the EGF receptor, inducing cell migration (Schenk et al. 2003). ; ; In much of the early literature it is not clear which subunit of the laminin trimer was cleaved, but in vitro studies have revealed specific enzymes involved in the processing of laminin-332 including MMP2, MMP14 (MT1-MMP), and the C-proteinase family of enzymes, especially bone morphogenic protein 1 (BMP1) and mammalian tolloid (mTLD), isoforms 1 and 3 respectively of UniProt P13497 BMP1 (Sugawara et al. 2008, Rousselle & Beck 2013). Many proteases have been demonstrated to degrade specific subunits of laminin-332. The beta-3 chain is degraded by matrix metalloproteinase 14 (MMP14, MT1-MMP, Udayakumar et al. 2003) and MMP7 (Remy et al. 2006). The alpha-3 chain is degraded by plasmin (Goldfinger et al. 1998, 1999) and BMP1 (and its isoform mTLD, Veitch et al. 2003). Laminin gamma-2 chain is degraded by MMP14 (Koshikawa et al. 2000, 2005, Piril\u00e4 et al. 2003) , MMP2 (Gianelli et al. 1997, Piril\u00e4 et al. 2003), MMP3, 12, 13 (Piril\u00e4 et al. 2003), 19 (Sadowski et al. 2005), MMP20 (V\u00e4\u00e4n\u00e4nen et al. 2001, Piril\u00e4 et al. 2003), BMP1 (Amano et al. 2000, Kessler et al. 2001) and mTLD (Veitch et al. 2003). Plasmin cleavage of laminin-111 yields fragments with sizes that correspond to the cleavage of the alpha and beta/gamma components (Guti\u00e9rrez-Fern\u00e1ndez et al. 2009). ; ; In this reaction laminin-322 is represented with all 3 component peptides cleaved.",
"cellular_location": "extracellular region",
"input_participant_list": [
"R-HSA-216001"
],
"output_participant_list": [
"R-HSA-2533911"
],
"enzyme_list": [
"P39900-1",
"P00747-1",
"P13497-1",
"P08253-1",
"P45452-1",
"P09237-1",
"P08254-1",
"O60882-1",
"Q99542-1"
],
"evidence": [
{
"id": "R-HSA-1566979",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1566979"
}
]
},
{
"id": "R-HSA-1566981",
"name": "Fibronectin degradation by MMP1, 3, 7, 12, 13, 19, CTSS",
"equation": "",
"summary": "MMP1 can degrade fibronectin (Fukai et al. 1995), as can MMP3 (Gunja-Smith et al. 1985, Nicholson et al. 1989, Wilhelm et al. 1993, Fukai et al. 1995), MMP7 (Quantin et al. 1989, Miyazaki et al. 1990, Fukai et al. 1995, von Bredow et al. 1995), MMP10 (Nicholson et al. 1989), MMP12 (Gronski et al. 1997), MMP13 (Knauper et al. 1997), MMP14 (Shi & Sottile 2011) and 19 (Stracke et al. 2000). Cathepsin S is able to degrade fibronectin (Taleb et al. 2006). Studies have shown that fibronectin turnover is not prevented by protease inhibitors (Sottile & Hocking 2002) suggesting that caveolin-1-mediated endocytosis and intracellular degradation are involved (Salicioni et al. 2002, Sottile & Chandler 2004).",
"cellular_location": "extracellular region",
"input_participant_list": [
"R-HSA-2327729"
],
"output_participant_list": [
"R-HSA-2533900"
],
"enzyme_list": [
"P03956-1",
"P39900-1",
"P25774-1",
"P45452-1",
"P09237-1",
"P08254-1",
"Q99542-1"
],
"evidence": [
{
"id": "R-HSA-1566981",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1566981"
}
]
},
{
"id": "R-HSA-1592297",
"name": "Full activation of MMP1",
"equation": "",
"summary": "The 42 kDa intermediate form of MMP1 is fully activated by cleavage of the Gln99-Phe100 bond, producing a 41 kDa protein. MMP2 (Crabbe et al. 1994), MMP3 (Suzuki et al. 1990, Nagase et al. 1992), MMP7 (Imai et al. 1995), MMP10 (Nicholson et al. 1989) and MMP11 (Murphy et al. 1993) are able to convert the 42 kDa intermediate to fully activated 41 kDa form though they are not able to initiate activation of proMMP1 effectively (Nagase et al. 1992). MMP3 regulates MMP1 collagenase activity in human rheumatoid synovial fibroblasts (Unemori et al. 1991).",
"cellular_location": "extracellular region",
"input_participant_list": [],
"output_participant_list": [
"R-HSA-375064"
],
"enzyme_list": [
"P03956-1",
"P08253-1",
"P24347-1",
"P09238-1",
"P09237-1",
"P08254-1"
],
"evidence": [
{
"id": "R-HSA-1592297",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1592297"
}
]
},
{
"id": "R-HSA-1592314",
"name": "HSPG2 (perlecan) degradation by MMP3, plasmin, (MMP12)",
"equation": "",
"summary": "HSPG2 protein (perlecan) consists of a core protein of molecular weight 470 kDa with three long glycosaminoglycan (GAG) chains attached, each approximately 70-100 kDa. These are usually heparan sulphate (HS), but can be chondroitin sulphate (CS). The core protein consists of five distinct structural domains. The N-terminal domain I (aa ~1-195) contains attachment sites for GAG chains. Although GAG chains are not required for correct folding and secretion of the protein, lack of GAG or decreased sulfation can decrease perlecan's ability to interact with matrix proteins. Removal of GAG chains may affect matrix organization and endothelial barrier function. ; ; The GAG chains of HSPG2 bind growth factors in the ECM, and serve as co-ligands or ligand enhancers when bound to receptors. For example, HS-bound FGF was released from cultured cells by treatments with MMP3, rat MMP13, and plasmin (Whitelock et al. 1996). Other MMPs reported to degrade HSPG2 include MMP14 and MMP15 (d'Ortho et al. 1997). MMP12 releases chondroitin sulphate and heparan sulphate from basement membranes (Gronski et al. 1997) and degrades the related aggrecan (Durigova et al. 2011) so may degrade perlecan. Corneal epithelium explant growth correlates with MMP2 expression, an initial degradation of the original basement membrane, and an initial upregulation followed by downregulation of MMP9. However this may not result from direct cleavage of HSPG2 by these MMPs, they may modulate some factor involved in the maturation of basement membrane (Li et al. 2006). The core protein of HSPG2 can be cleaved by cathepsin S (Liuzzo et al. 1999).",
"cellular_location": "extracellular region",
"input_participant_list": [
"R-HSA-1011570"
],
"output_participant_list": [
"R-HSA-2534246",
"R-HSA-2534251"
],
"enzyme_list": [
"P39900-1",
"P00747-1",
"P08254-1"
],
"evidence": [
{
"id": "R-HSA-1592314",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1592314"
}
]
},
{
"id": "R-HSA-1592362",
"name": "Activation of proMMP7 by MMP3",
"equation": "",
"summary": "MMP3 activates MMP7 by cleavage of Glu94-Tyr95 (Imai et al. 1997).",
"cellular_location": "extracellular region",
"input_participant_list": [
"R-HSA-1604734"
],
"output_participant_list": [
"R-HSA-1442479",
"R-HSA-1604729"
],
"enzyme_list": [
"P43235-1",
"O60911-1",
"P09237-1",
"P08254-1"
],
"evidence": [
{
"id": "R-HSA-1592362",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1592362"
}
]
},
{
"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-1592436",
"name": "Initial activation of proMMP9 by MMPs",
"equation": "",
"summary": "MMP1 (Sang et al. 1995), MMP2 (Fridman et al. 1995), MMP3 (Goldberg et al. 1992, Ogata et al. 1992, Okada et al. 1992), MMP7 (Imai et al. 1995, Sang et al. 1995), MMP10 (Nakamura et al. 1998) and MMP13 (Knauper et al. 1997) activate MMP9 by a stepwise mechanism but the second cleavage is apparently not an autocatalytic event as is the case for MMP1 (Okada et al. 1992). The first site is the Glu59-Met60 bond, generating an inactive 85-86 kDa intermediate (O'Connell et al. 1994), followed by cleavage of the Arg106-Phe107 peptide bond producing the fullly active 82 kDa form of MMP9 (Okada et al. 1992, Fridman et al. 1995).",
"cellular_location": "extracellular region",
"input_participant_list": [
"R-HSA-1604376"
],
"output_participant_list": [
"R-HSA-1604685"
],
"enzyme_list": [
"P03956-1",
"P14780-1",
"P08253-1",
"P45452-1",
"P09238-1",
"P09237-1",
"P08254-1"
],
"evidence": [
{
"id": "R-HSA-1592436",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1592436"
}
]
},
{
"id": "R-HSA-1604690",
"name": "Activation of MMP9 intermediate form by MMPs",
"equation": "",
"summary": "The intermediate form of MMP9 is activated by cleavage of the Arg106-Phe107 peptide bond producing the fullly active 82-kDa MMP-9 species (Ogata et al. 1992, Fridman et al. 1995).",
"cellular_location": "extracellular region",
"input_participant_list": [
"R-HSA-1604726"
],
"output_participant_list": [
"R-HSA-1604699"
],
"enzyme_list": [
"P03956-1",
"P14780-1",
"P08253-1",
"P45452-1",
"P09238-1",
"P09237-1",
"P08254-1"
],
"evidence": [
{
"id": "R-HSA-1604690",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1604690"
}
]
},
{
"id": "R-HSA-1604731",
"name": "Autocatalytic activation of MMP3",
"equation": "",
"summary": "After the initial cleavage of the N-terminus, MMP3 undergoes 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": [],
"output_participant_list": [
"R-HSA-1604687"
],
"enzyme_list": [
"P08254-1"
],
"evidence": [
{
"id": "R-HSA-1604731",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1604731"
}
]
},
{
"id": "R-HSA-1604752",
"name": "Initial activation of proMMP13 by MMP3",
"equation": "",
"summary": "MMP3 initially cleaves proMMP13 at Gly76-Leu77 followed by autoprocessing at Glu103-Tyr104 (Knauper et al. 1996).",
"cellular_location": "extracellular region",
"input_participant_list": [],
"output_participant_list": [
"R-HSA-1604703",
"R-HSA-1604755"
],
"enzyme_list": [
"P43235-1",
"O60911-1",
"P45452-1",
"P08254-1"
],
"evidence": [
{
"id": "R-HSA-1604752",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1604752"
}
]
},
{
"id": "R-HSA-2168923",
"name": "Collagen type XVIII endostatin release",
"equation": "",
"summary": "Collagen type XVIII is a heparan sulfate proteoglycan associated with the basement membranes of almost all epithelia and endothelia. It has a large C-terminal noncollagenous domain. Mouse knockouts suggest that it may have a role in maintaining the structural integrity of the extracellular matrix (Utriainen et al. 2004).
Proteolytic cleavage of the C-terminal noncollagenous domain by matrix metalloproteinases (Heljasvaara et al. 2005) releases 18 to 38 kDa C-terminal proteolytic fragments, collectively named endostatin. They have anti-angiogenic activity (O'Reilly et al. 1997, St\u00e4ndker et al. 1997) and suppress primary tumor and metastasis growth in experimental animal models (Ortega & Werb 2002). It is not clear whether this collagen subtype forms supramolecular assemblies (Myllyharju & Kivirikko, 2004) but thought likely, via a similar mechanism to the related collagen XV (Hurskainen et al. 2010).
Endostatin-like fragments are released from collagen type XVIII by MMP 7 (Lin et al. 2001), 3, 9, 12, 13 (Ferreras et al. 2000) and 20 (Heljasvaara et al. 2005). Several cathepsins and elastase can bring about endostatin release (Ferreras et al. 2000, Felbor et al. 2000).",
"cellular_location": "extracellular region",
"input_participant_list": [
"R-HSA-2172281"
],
"output_participant_list": [
"R-HSA-2470858"
],
"enzyme_list": [
"P39900-1",
"P07858-1",
"P07711-1",
"P14780-1",
"P43235-1",
"P45452-1",
"P09237-1",
"P08254-1",
"O60882-1"
],
"evidence": [
{
"id": "R-HSA-2168923",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2168923"
}
]
},
{
"id": "R-HSA-2179402",
"name": "Active MMP3 can cleave pro-HBEGF to form active HBEGF",
"equation": "",
"summary": "Gastrin can induce cleavage of pro-HBEGF via MMP3, releasing mature HBEGF. This event is based on evidence from mouse experiments (Suzuki et al. 1997).",
"cellular_location": "extracellular region",
"input_participant_list": [
"R-HSA-2179406"
],
"output_participant_list": [
"R-HSA-1233234",
"R-HSA-2179390",
"R-HSA-2179391"
],
"enzyme_list": [
"P08254-1"
],
"evidence": [
{
"id": "R-HSA-2179402",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2179402"
}
]
},
{
"id": "R-HSA-2179413",
"name": "Activated PKC-alpha activate MMP3",
"equation": "",
"summary": "Gastrin activated PKC pathway leads to the induction of matrix metalloproteinase 3 (MMP3) synthesis (Reuben et al. 2002). The cleavage and autocatalysis steps to obtain the fully activated form of MMP3 have been omitted here.",
"cellular_location": "extracellular region, plasma membrane",
"input_participant_list": [
"R-HSA-8943665"
],
"output_participant_list": [
"R-HSA-1430778"
],
"enzyme_list": [
"P17252-1",
"P08254-1"
],
"evidence": [
{
"id": "R-HSA-2179413",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2179413"
}
]
},
{
"id": "R-HSA-2213200",
"name": "Release of endostatin-like peptides",
"equation": "",
"summary": "Collagens XV and XVIII are basement membrane associated collagens that can be cleaved to generate the antiangiogenic peptides restin (endostatin-XV) and endostatin (endostatin-XVIII), respectively (O'Reilly et al. 1997, Ramachandran et al. 1997, Sasaki et al. 2000). Endostatin fragments of differing molecular size (14-30 kDa) have been identified in vivo. Furthermore the C-terminal domains of several other collagens (IV, VIII, XIX) have anti-angiogenic and anti-tumoral activities (Ricard-Blum & Ballut 2011). Several proteases are able to generate endostatin from collagen XVIII including MMP-3, -7, -9, -13 and -20 and cathepsins B, V, S and L (Heljasvaara et al. 2005, Ma et al. 2007, Veillard et al. 2011). Endostatin inhibits proliferation of endothelial cells, angiogenesis and tumor growth in vivo (O'Reilly et al. 1997).",
"cellular_location": "extracellular region",
"input_participant_list": [
"R-HSA-2152295"
],
"output_participant_list": [
"R-HSA-2225571",
"R-HSA-2225572",
"R-HSA-2225575",
"R-HSA-2225576"
],
"enzyme_list": [
"P07858-1",
"P07711-1",
"P14780-1",
"O60911-1",
"P25774-1",
"P45452-1",
"P09237-1",
"P08254-1",
"O60882-1"
],
"evidence": [
{
"id": "R-HSA-2213200",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2213200"
}
]
},
{
"id": "R-HSA-2484882",
"name": "Collagen type X degradation by MMP3, 13",
"equation": "",
"summary": "Collagen X forms extended hexagonal networks (Kwan et al. 1991, Jacenko et al. 2001). It's distribution is limited to regions of hypertrophic cartilage destined for degradation during endochondral ossification (Schmid & Conrad 1982). It is also found in areas of surface fibrillation and osteophyte formation during the development of osteoarthritic lesions in articular cartilage (von der Mark et al. 1992). In Timp3 knockout mice type X collagen was observed mostly in areas of articular cartilage that stained strongly for collagen cleavage products, suggesting that deposition of type X collagen might be a damage repair mechanism (Sahebjam et al. 2007). Mutations in the gene COL10A1 are associated with Schmid/Japanese type metaphyseal chondrodysplasia (SMCD) (Warman et al. 1993, Ho et al. 2007, Woelfle et al. 2011).
Type X collagen is degraded by MMP1 (Schmid et al. 1986, Welgus et al. 1990, Cole et al. 1993), MMP2 (Cole et al. 1993, Welgus et al. 1990), MMP3 (Wu et al. 1991), MMP13 (Knauper et al. 1997) and ELANE (neutrophil elastase - Kittelberger et al. 1992).",
"cellular_location": "extracellular region",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P45452-1",
"P08254-1"
],
"evidence": [
{
"id": "R-HSA-2484882",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2484882"
}
]
},
{
"id": "R-HSA-2514772",
"name": "Fibrillin-1 degradation by MMP3, CTSK, CTSL2",
"equation": "",
"summary": "Fibrillin-1 can be degraded by MMP3 (Ashworth et al. 1999) and cathepsins K and L2 (V) (Kirschner et al. 2011).",
"cellular_location": "extracellular region",
"input_participant_list": [
"R-HSA-2159874"
],
"output_participant_list": [
"R-HSA-2514812"
],
"enzyme_list": [
"P43235-1",
"O60911-1",
"P08254-1"
],
"evidence": [
{
"id": "R-HSA-2514772",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514772"
}
]
},
{
"id": "R-HSA-2533970",
"name": "NID1 degradation by MMP3, 7",
"equation": "",
"summary": "Nidogen-1 (entactin) is a member of the nidogen family of basement membrane glycoproteins. It interacts with several other components of basement membranes, notably it connects the collagen and laminin networks to each other (Yurchenko & Patton 2009). MMPs 3, 7 (Mayer et al. 1993), 1, 9, (Sires et al. 1993), 12 (Gronski et al. 1997), 14, 15 (d'Ortho et al. 1997), 19 (Stracke et al. 2000) and leukocyte elastase (Mayer et al. 1993) can all degrade Nidogen-1.",
"cellular_location": "extracellular region",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P09237-1",
"P08254-1"
],
"evidence": [
{
"id": "R-HSA-2533970",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2533970"
}
]
},
{
"id": "R-HSA-2534248",
"name": "DCN (decorin) degradation by MMP2, MMP3, MMP7",
"equation": "",
"summary": "DCN consists of a core protein of ?40 kDa attached to a single chondroitin or dermatan sulfate glycosaminoglycan (GAG) chain. It interacts with collagen types I, II (Vogel et al. 1984), III (Witos et al. 2011), VI (Bidanset et al. 1992) and XIV (Ehnis et al. 1997). ; ; DCN acts as a sink for all three isoforms of TGF-Beta, binding them while already bound to collagen (Markmann et al. 2000). Degradation of DCN by matrix metalloproteinases MMP2, 3 or 7 results in the release of TGF-beta (Imai et al. 1997). In addition, DCN binds to EGFR (Iozzo et al. 1999) causing prolonged down-regulation of EGFR-mediated mobilization of intracellular calcium (Csord\u00e1s et al. 2000).",
"cellular_location": "extracellular region",
"input_participant_list": [
"R-HSA-1430775"
],
"output_participant_list": [
"R-HSA-2534171",
"R-HSA-2534176"
],
"enzyme_list": [
"P08253-1",
"P09237-1",
"P08254-1"
],
"evidence": [
{
"id": "R-HSA-2534248",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2534248"
}
]
},
{
"id": "R-HSA-3791149",
"name": "Brevican degradation by MMP1, 2, 3, 7,8,10,13,19",
"equation": "",
"summary": "Brevican, a member of the lectican family, is one of the most abundant proteoglycans in normal adult brain tissues. It is thought to form lattice structures by linking hyaluronan and tenascin-R through its N- and C-terminal globular domains, respectively. As brain extracellular matrix (ECM) contains no collagen fibrils, this matrix of hyaluronan/brevican/tenascin-R is considered essential to maintain the integrity of brain ECM. Degradation of brevican by proteinases disrupts ECM structures and facilitates invasion of glioma cells (Yamaguchi 2000). \n; \n; The major brevican cleavage site observed under physiological conditions (Yamada et al. 1994) and during glioma invasion (Zhang et al. 1998) is the Glu395-Ser396 bond present within the central domain of the core protein, forming an ~50-kDa N-terminal fragment. This bond is cleaved by ADAMTS4 and 5 (Nakamura et al. 2000, Matthews et al. 2000, Nakada et al. 2005). Matrix metalloproteinases that digest brevican (MMP-1, -2, -3, -7, -8, -10, -13 and -19) preferentially cleave the Ala360-Phe361 bond. (Nakamura et al. 2000, Nakada et al. 2005, Lettau et al. 2010).",
"cellular_location": "extracellular region",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P03956-1",
"P08253-1",
"P45452-1",
"P09238-1",
"P09237-1",
"P08254-1",
"P22894-1",
"Q99542-1"
],
"evidence": [
{
"id": "R-HSA-3791149",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3791149"
}
]
},
{
"id": "R-HSA-3791295",
"name": "Aggrecan degradation by MMP1,2,3,7,9,12,13",
"equation": "",
"summary": "Aggrecan (large aggregating proteoglycan, chondroitin sulfate proteoglycan 1) is a major structural component of cartilage, particularly articular cartilage. The core protein has over 100 chains of chondroitin sulphate and keratan sulphate giving a MWt of about 250 kDa. The core protein has 2 N-terminal globular domains G1 and G2 and a C-terminal globular G3 domain. G2 and G3 are separated by a region heavily modified with negatively charged glycosaminoglycans (GAGs). The two main modifier moieties keratan sulfate (KS) and chondroitin sulfate (CS) are arranged into two CS regions and a KS-rich region. The 15-kDa interglobular linker (IGD) between the N-terminal G1 and G2 domains is particularly susceptible to proteolysis (Caterson et al. 2000). Degradation in this region is associated with the development of osteoarthritis (Troeberg & Nagase 2012). Members of the ADAM (A Disintegrin And Metalloprotease) protein family are believed to be largely responsible for this cleavage (East et al. 2007, Huang & Wu 2008). The majority of aggrecan fragments present in synovial fluid of OA patients are cleaved at Glu392-Ala393 (numbering used here refers to the UniProt sequence, these residues often desgnated Glu373-Ala374 in literature) in the IGD (Sandy et al. 1992).
Matrix metalloproteinase (MMP) 3 was the first protease found to degrade aggrecan. It preferentially cleaves the Asn360-Phe361 bond (numbering used here refers to the UniProt sequence, these residues often desgnated Asn341-Phe342 in literature). (Fosang et al. 1991). MMP2, 7, 9 (Fosang et al. 1992), 1, 8 (Fosang et al. 1993), 13 (Fosang et al. 1996) and 12 (Durigova et al. 2011) were all found to be able to cleave this site as well as other sites towards the C-terminus.",
"cellular_location": "extracellular region",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P03956-1",
"P39900-1",
"P14780-1",
"P08253-1",
"P45452-1",
"P09237-1",
"P08254-1"
],
"evidence": [
{
"id": "R-HSA-3791295",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3791295"
}
]
},
{
"id": "R-HSA-4086205",
"name": "OPN (osteopontin) degradation by MMP3, MMP7",
"equation": "",
"summary": "OPN is a substrate for MMP3 and MMP7. Three cleavage sites were identified, Gly166-Leu167, Ala201-Tyr202 (MMP-3 only), and Asp210-Leu211. The resulting OPN fragments facilitate adhesion and migration in vitro through activation of beta1-containing integrins (Agnihotri et al. 2001). OPN has also been shown to be a substrate for liver transglutaminase and plasma transglutaminase factor IIIa, resulting in protein crosslinking (Prince et al. 1991), enhanced cell adhesion, spreading, focal contact formation and migration",
"cellular_location": "extracellular region",
"input_participant_list": [],
"output_participant_list": [
"R-HSA-4093349",
"R-HSA-4093351"
],
"enzyme_list": [
"P09237-1",
"P08254-1"
],
"evidence": [
{
"id": "R-HSA-4086205",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086205"
}
]
},
{
"id": "R-HSA-6789615",
"name": "Expression of STAT3-upregulated extracellular proteins",
"equation": "",
"summary": "Signal transducer and activator of transcription 3 (STAT3) is a key regulator of gene expression in response to signaling of many cytokines including interleukin-6 (IL6), Oncostatin M (OSM), and leukemia inhibitory factor (LIF). Using microarray techniques, hundreds of genes have been reported as potential STAT3 target genes (Dauer et al. 2005, Hsieh et al. 2005). Some have been confirmed as direct STAT3 targets using genome-wide chromatin immunoprecipitation screening (Snyder et al. 2008, Carpenter & Lo 2014).
Genes for extracellular proteins that are upregulated by STAT3 include Lipopolysaccharide-binding protein (LBP) (Schumann et al. 1996), IL10 (Schaefer et al. 2009), IL23A (Kortylewski et al. 2009), Transforming growth factor beta-1 (TGFB1) (Kinjyo et al. 2006), Matrix metalloproteinase-1 (MMP1, Interstitial collagenase) (Itoh et al. 2006), MMP2 (Xie et al. 2004), MMP3 (Liu et al. 2013), MMP9 (Song et al. 2009), Neutrophil gelatinase-associated lipocalin (LCN2) (Jung et al. 2012, Xu et al. 2015), Pro-opiomelanocortin (POMC) (Bosquet et al. 2000), Serum amyloid A-1 protein (SAA1) (Hagihara et al. 2005), Vascular endothelial growth factor A (VEGFA) (Niu et al. 2002), Fibroblast growth factor 2 (FGF2) (Huang et al. 2013), Hepatocyte growth factor (HGF) (Hung & Elliot 2001), IL17A, IL17F (Durant et al. 2010) and Metalloproteinase inhibitor 1 (TIMP1) (Adamson et al. 2013).",
"cellular_location": "extracellular region, nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P03956-1",
"P14780-1",
"P08253-1",
"P08254-1"
],
"evidence": [
{
"id": "R-HSA-6789615",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6789615"
}
]
},
{
"id": "R-HSA-9624272",
"name": "MMPs cleave HB-EGF",
"equation": "",
"summary": "Estrogen-stimulation of ESR1 activates downstream signaling pathways that results in the release of HB-EGF in an IGF- MMP- and EGFR-dependent manner (Razandi et al, 2003; Song et al, 2004; Song et al, 2007; Santen et al, 2009). Based on studies in other systems, candidate MMPs for the cleavage of HB-EGF include MMP2, MMP3, MMP7 and MMP9 (Suzuki et al, 1997; Yu et al, 2002; Razandi et al, 2003). Although direct cleavage of HB-EGF by MMPs downstream of estrogen signaling has not been demonstrated, estrogen-stimulated signaling through EGFR is abrogated after treatment of cells with an HB-EGF neutralizing antibody (Razandi et al, 2003; Song et al, 2007).",
"cellular_location": "extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [
"R-HSA-9624270"
],
"enzyme_list": [
"P08069-1",
"P14780-1",
"P08253-1",
"P09237-1",
"P08254-1"
],
"evidence": [
{
"id": "R-HSA-9624272",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9624272"
}
]
},
{
"id": "R-NUL-2484854",
"name": "Collagen type X degradation by MMP3, 13",
"equation": "",
"summary": "Collagen X forms extended hexagonal networks (Kwan et al. 1991, Jacenko et al. 2001). It's distribution is limited to regions of hypertrophic cartilage destined for degradation during endochondral ossification (Schmid & Conrad 1982). It is also found in areas of surface fibrillation and osteophyte formation during the development of osteoarthritic lesions in articular cartilage (von der Mark et al. 1992). In Timp3 knockout mice type X collagen was observed mostly in areas of articular cartilage that stained strongly for collagen cleavage products, suggesting that deposition of type X collagen might be a damage repair mechanism (Sahebjam et al. 2007). Mutations in the gene COL10A1 are associated with Schmid/Japanese type metaphyseal chondrodysplasia (SMCD) (Warman et al. 1993, Ho et al. 2007, Woelfle et al. 2011).
Type X collagen is degraded by MMP1 (Schmid et al. 1986, Welgus et al. 1990, Cole et al. 1993), MMP2 (Cole et al. 1993, Welgus et al. 1990), MMP3 (Wu et al. 1991), MMP13 (Knauper et al. 1997) and ELANE (neutrophil elastase - Kittelberger et al. 1992).",
"cellular_location": "extracellular region",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P45452-1",
"P08254-1"
],
"evidence": [
{
"id": "R-NUL-2484854",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-NUL-2484854"
}
]
},
{
"id": "R-NUL-2534162",
"name": "E-cadherin strand dimer degradation by MMP3, MMP7 and Plasmin",
"equation": "",
"summary": "Full-length 120-kDa CDH1 protein is cleaved in the ectodomain close to the plasma membrane by a number of metalloproteases, generating an extracellular 38-kDa C-terminal fragment (CTF) termed CTF1 which can be further processed by a gamma-secretase-like activity to a soluble 33-kDa CTF2 (Marambaud et al. 2002, Roy & Berx 2008). MMP3, MMP7 (No\u00eb et al. 2001) and plasmin (Ryniers et al. 2002), all cleave dog CDH1 extracellularly, close to the transmembrane region.",
"cellular_location": "extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P00747-1",
"P09237-1",
"P08254-1"
],
"evidence": [
{
"id": "R-NUL-2534162",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-NUL-2534162"
}
]
},
{
"id": "R-NUL-3814821",
"name": "Aggrecan degradation by MMP1,2,3,7,9,12,13",
"equation": "",
"summary": "Aggrecan (large aggregating proteoglycan, chondroitin sulfate proteoglycan 1) is a major structural component of cartilage, particularly articular cartilage. The core protein has over 100 chains of chondroitin sulphate and keratan sulphate giving a MWt of about 250 kDa. The core protein has 2 N-terminal globular domains G1 and G2 and a C-terminal globular G3 domain. G2 and G3 are separated by a region heavily modified with negatively charged glycosaminoglycans (GAGs). The two main modifier moieties keratan sulfate (KS) and chondroitin sulfate (CS) are arranged into two CS regions and a KS-rich region. The 15-kDa interglobular linker (IGD) between the N-terminal G1 and G2 domains is particularly susceptible to proteolysis (Caterson et al. 2000). Degradation in this region is associated with the development of osteoarthritis (Troeberg & Nagase 2012). Members of the ADAM (A Disintegrin And Metalloprotease) protein family are believed to be largely responsible for this cleavage (East et al. 2007, Huang & Wu 2008). The majority of aggrecan fragments present in synovial fluid of OA patients are cleaved at Glu392-Ala393 (numbering used here refers to the UniProt sequence, these residues often desgnated Glu373-Ala374 in literature) in the IGD (Sandy et al. 1992).
Matrix metalloproteinase (MMP) 3 was the first protease found to degrade aggrecan. It preferentially cleaves the Asn360-Phe361 bond (numbering used here refers to the UniProt sequence, these residues often desgnated Asn341-Phe342 in literature). (Fosang et al. 1991). MMP2, 7, 9 (Fosang et al. 1992), 1, 8 (Fosang et al. 1993), 13 (Fosang et al. 1996) and 12 (Durigova et al. 2011) were all found to be able to cleave this site as well as other sites towards the C-terminus.",
"cellular_location": "extracellular region",
"input_participant_list": [
"R-SSC-3814816"
],
"output_participant_list": [
"R-SSC-3814807",
"R-SSC-3814819"
],
"enzyme_list": [
"P03956-1",
"P39900-1",
"P14780-1",
"P08253-1",
"P45452-1",
"P09237-1",
"P08254-1"
],
"evidence": [
{
"id": "R-NUL-3814821",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-NUL-3814821"
}
]
}
],
"reaction_participants": [
{
"participant_id": "R-HSA-1011570",
"participant_name": "HSPG2(22-4391) [extracellular region]",
"crossref": [
{
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"database": "UniProt",
"url": ""
},
{
"id": "ENST00000374695",
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{
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{
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{
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{
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}
]
},
{
"participant_id": "R-HSA-1233234",
"participant_name": "HBEGF(63-148) [extracellular region]",
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{
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"url": ""
},
{
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{
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},
{
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},
{
"id": "HMDBP02701",
"database": "HMDB Protein",
"url": ""
},
{
"id": "NP_001936.1",
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"url": ""
},
{
"id": "Q99075",
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"url": ""
},
{
"id": "2M8S",
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},
{
"id": "1XDT",
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},
{
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}
]
},
{
"participant_id": "R-HSA-1430775",
"participant_name": "DCN [extracellular region]",
"crossref": [
{
"id": "P07585",
"database": "UniProt",
"url": ""
},
{
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{
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{
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{
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{
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{
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{
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{
"id": "ENSG00000011465-DCN",
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"url": ""
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{
"id": "ENSP00000447654",
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"url": ""
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{
"id": "XP_005268750.1",
"database": "RefSeq",
"url": ""
},
{
"id": "ENST00000425043",
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{
"id": "ENST00000420120",
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"url": ""
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{
"id": "ENSP00000052754",
"database": "Ensembl",
"url": ""
},
{
"id": "NP_598013.1",
"database": "RefSeq",
"url": ""
},
{
"id": "P07585",
"database": "GeneCards",
"url": ""
},
{
"id": "XP_006719333.1",
"database": "RefSeq",
"url": ""
},
{
"id": "P07585",
"database": "PRO",
"url": ""
},
{
"id": "ENSG00000011465",
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{
"id": "NP_598012.1",
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"url": ""
},
{
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"url": ""
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{
"id": "XP_016874406.1",
"database": "RefSeq",
"url": ""
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{
"id": "NP_001911.1",
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"url": ""
},
{
"id": "NP_598010.1",
"database": "RefSeq",
"url": ""
}
]
},
{
"participant_id": "R-HSA-1430778",
"participant_name": "MMP3(100-477) [extracellular region]",
"crossref": [
{
"id": "1B8Y",
"database": "PDB",
"url": ""
},
{
"id": "2SRT",
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"url": ""
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{
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"url": ""
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{
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"url": ""
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{
"id": "1QIA",
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"url": ""
},
{
"id": "MMP3_HUMAN",
"database": "ZINC - Predictions - Purchasable",
"url": ""
},
{
"id": "4DPE",
"database": "PDB",
"url": ""
},
{
"id": "HMDBP02592",
"database": "HMDB Protein",
"url": ""
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{
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"url": ""
},
{
"id": "1HY7",
"database": "PDB",
"url": ""
},
{
"id": "7S7L",
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"url": ""
},
{
"id": "3OHO",
"database": "PDB",
"url": ""
},
{
"id": "4JA1",
"database": "PDB",
"url": ""
},
{
"id": "1SLM",
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"url": ""
},
{
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"url": ""
},
{
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{
"id": "6MAV",
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"url": ""
},
{
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"database": "ZINC - Substances",
"url": ""
},
{
"id": "1BM6",
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"url": ""
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{
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"url": ""
},
{
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"url": ""
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{
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{
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{
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"url": ""
},
{
"id": "1OO9",
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},
{
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"url": ""
},
{
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"url": ""
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{
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"url": ""
},
{
"id": "P08254",
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"url": ""
},
{
"id": "4G9L",
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"url": ""
},
{
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"url": ""
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{
"id": "1D8F",
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"url": ""
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{
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"url": ""
},
{
"id": "2JNP",
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"url": ""
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{
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"url": ""
},
{
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"database": "PDB",
"url": ""
},
{
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"database": "PDB",
"url": ""
},
{
"id": "MMP3_HUMAN",
"database": "ZINC - Biogenic",
"url": ""
},
{
"id": "1C8T",
"database": "PDB",
"url": ""
},
{
"id": "MMP3_HUMAN",
"database": "ZINC - World Drugs",
"url": ""
},
{
"id": "2JT5",
"database": "PDB",
"url": ""
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{
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"url": ""
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{
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"url": ""
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{
"id": "ENSP00000299855",
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"url": ""
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{
"id": "1UMS",
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"url": ""
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{
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"url": ""
},
{
"id": "1BIW",
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"url": ""
},
{
"id": "1CQR",
"database": "PDB",
"url": ""
},
{
"id": "1D7X",
"database": "PDB",
"url": ""
},
{
"id": "1C3I",
"database": "PDB",
"url": ""
},
{
"id": "MMP3_HUMAN",
"database": "ZINC - Metabolites",
"url": ""
},
{
"id": "1D5J",
"database": "PDB",
"url": ""
},
{
"id": "1CIZ",
"database": "PDB",
"url": ""
},
{
"id": "2JT6",
"database": "PDB",
"url": ""
},
{
"id": "1G05",
"database": "PDB",
"url": ""
},
{
"id": "ENST00000299855",
"database": "Ensembl",
"url": ""
},
{
"id": "P08254",
"database": "ZINC target",
"url": ""
},
{
"id": "NP_002413.1",
"database": "RefSeq",
"url": ""
},
{
"id": "1CAQ",
"database": "PDB",
"url": ""
},
{
"id": "1USN",
"database": "PDB",
"url": ""
},
{
"id": "MMP3_HUMAN",
"database": "ZINC - Investigational",
"url": ""
},
{
"id": "ENSG00000149968-MMP3",
"database": "HPA",
"url": ""
}
]
},
{
"participant_id": "R-HSA-1442479",
"participant_name": "MMP7(95-267) [extracellular region]",
"crossref": [
{
"id": "MMP7_HUMAN",
"database": "ZINC - Investigational",
"url": ""
},
{
"id": "2MZI",
"database": "PDB",
"url": ""
},
{
"id": "1MMR",
"database": "PDB",
"url": ""
},
{
"id": "2DDY",
"database": "PDB",
"url": ""
},
{
"id": "NP_002414.1",
"database": "RefSeq",
"url": ""
},
{
"id": "HMDBP02928",
"database": "HMDB Protein",
"url": ""
},
{
"id": "7WXX",
"database": "PDB",
"url": ""
},
{
"id": "MMP7_HUMAN",
"database": "ZINC - Substances",
"url": ""
},
{
"id": "ENSG00000137673",
"database": "Ensembl",
"url": ""
},
{
"id": "5UE2",
"database": "PDB",
"url": ""
},
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"id": "ENSG00000118785-SPP1",
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},
{
"id": "NP_001035147.1",
"database": "RefSeq",
"url": ""
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{
"id": "NP_001238759.1",
"database": "RefSeq",
"url": ""
},
{
"id": "ENSP00000237623",
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"url": ""
},
{
"id": "P10451",
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},
{
"id": "ENSP00000477824",
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"url": ""
},
{
"id": "P10451",
"database": "GeneCards",
"url": ""
},
{
"id": "NP_001035149.1",
"database": "RefSeq",
"url": ""
},
{
"id": "22426",
"database": "Orphanet",
"url": ""
},
{
"id": "ENSP00000354042",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000118785",
"database": "Ensembl",
"url": ""
},
{
"id": "NP_001238758.1",
"database": "RefSeq",
"url": ""
},
{
"id": "3DSF",
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"url": ""
},
{
"id": "3CXD",
"database": "PDB",
"url": ""
},
{
"id": "P10451",
"database": "PRO",
"url": ""
},
{
"id": "ENST00000614857",
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"url": ""
},
{
"id": "P10451",
"database": "UniProt",
"url": ""
},
{
"id": "ENST00000360804",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000118785",
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"url": ""
},
{
"id": "NP_000573.1",
"database": "RefSeq",
"url": ""
},
{
"id": "ENST00000237623",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000378517",
"database": "Ensembl",
"url": ""
}
]
},
{
"participant_id": "R-HSA-8943665",
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},
{
"id": "1G4K",
"database": "PDB",
"url": ""
},
{
"id": "3OHO",
"database": "PDB",
"url": ""
},
{
"id": "1G49",
"database": "PDB",
"url": ""
},
{
"id": "3OHL",
"database": "PDB",
"url": ""
},
{
"id": "4G9L",
"database": "PDB",
"url": ""
},
{
"id": "1HY7",
"database": "PDB",
"url": ""
},
{
"id": "MMP3_HUMAN",
"database": "ZINC - Substances",
"url": ""
},
{
"id": "4DPE",
"database": "PDB",
"url": ""
},
{
"id": "1HFS",
"database": "PDB",
"url": ""
},
{
"id": "3USN",
"database": "PDB",
"url": ""
},
{
"id": "6N9D",
"database": "PDB",
"url": ""
},
{
"id": "1B8Y",
"database": "PDB",
"url": ""
},
{
"id": "1B3D",
"database": "PDB",
"url": ""
},
{
"id": "1QIC",
"database": "PDB",
"url": ""
},
{
"id": "6MAV",
"database": "PDB",
"url": ""
},
{
"id": "1QIA",
"database": "PDB",
"url": ""
},
{
"id": "1OO9",
"database": "PDB",
"url": ""
},
{
"id": "4JA1",
"database": "PDB",
"url": ""
},
{
"id": "7S7M",
"database": "PDB",
"url": ""
},
{
"id": "1BQO",
"database": "PDB",
"url": ""
},
{
"id": "P08254",
"database": "Pharos - Targets",
"url": ""
},
{
"id": "7S7L",
"database": "PDB",
"url": ""
},
{
"id": "1BM6",
"database": "PDB",
"url": ""
},
{
"id": "MMP3_HUMAN",
"database": "ZINC - Predictions - Purchasable",
"url": ""
},
{
"id": "1SLN",
"database": "PDB",
"url": ""
},
{
"id": "1SLM",
"database": "PDB",
"url": ""
},
{
"id": "1D8M",
"database": "PDB",
"url": ""
},
{
"id": "2SRT",
"database": "PDB",
"url": ""
},
{
"id": "P08254",
"database": "PRO",
"url": ""
},
{
"id": "HMDBP02592",
"database": "HMDB Protein",
"url": ""
},
{
"id": "ENSG00000149968",
"database": "OpenTargets",
"url": ""
},
{
"id": "1630",
"database": "Guide to Pharmacology - Targets",
"url": ""
},
{
"id": "1G05",
"database": "PDB",
"url": ""
},
{
"id": "2USN",
"database": "PDB",
"url": ""
},
{
"id": "MMP3_HUMAN",
"database": "ZINC - Metabolites",
"url": ""
},
{
"id": "2JNP",
"database": "PDB",
"url": ""
},
{
"id": "MMP3_HUMAN",
"database": "ZINC - Investigational",
"url": ""
},
{
"id": "2JT5",
"database": "PDB",
"url": ""
},
{
"id": "1D7X",
"database": "PDB",
"url": ""
},
{
"id": "MMP3_HUMAN",
"database": "ZINC - Biogenic",
"url": ""
},
{
"id": "NP_002413.1",
"database": "RefSeq",
"url": ""
},
{
"id": "P08254",
"database": "GeneCards",
"url": ""
},
{
"id": "2JT6",
"database": "PDB",
"url": ""
},
{
"id": "1D8F",
"database": "PDB",
"url": ""
},
{
"id": "1USN",
"database": "PDB",
"url": ""
},
{
"id": "MMP3_HUMAN",
"database": "ZINC - World Drugs",
"url": ""
},
{
"id": "1CQR",
"database": "PDB",
"url": ""
},
{
"id": "2D1O",
"database": "PDB",
"url": ""
},
{
"id": "ENST00000299855",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000299855",
"database": "Ensembl",
"url": ""
},
{
"id": "1D5J",
"database": "PDB",
"url": ""
},
{
"id": "ENSG00000149968",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000149968-MMP3",
"database": "HPA",
"url": ""
},
{
"id": "1UEA",
"database": "PDB",
"url": ""
},
{
"id": "1C3I",
"database": "PDB",
"url": ""
},
{
"id": "1UMT",
"database": "PDB",
"url": ""
},
{
"id": "P08254",
"database": "ZINC target",
"url": ""
},
{
"id": "1UMS",
"database": "PDB",
"url": ""
},
{
"id": "1CIZ",
"database": "PDB",
"url": ""
},
{
"id": "1C8T",
"database": "PDB",
"url": ""
},
{
"id": "1CAQ",
"database": "PDB",
"url": ""
},
{
"id": "1BIW",
"database": "PDB",
"url": ""
}
]
},
{
"participant_id": "R-HSA-9624270",
"participant_name": "HB-EGF(161-208) [plasma membrane]",
"crossref": [
{
"id": "Q99075",
"database": "Pharos - Targets",
"url": ""
},
{
"id": "ENSP00000230990",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000113070",
"database": "OpenTargets",
"url": ""
},
{
"id": "ENSG00000113070",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000230990",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000113070-HBEGF",
"database": "HPA",
"url": ""
},
{
"id": "Q99075",
"database": "PRO",
"url": ""
},
{
"id": "2M8S",
"database": "PDB",
"url": ""
},
{
"id": "1XDT",
"database": "PDB",
"url": ""
},
{
"id": "Q99075",
"database": "GeneCards",
"url": ""
},
{
"id": "Q99075",
"database": "UniProt",
"url": ""
},
{
"id": "HMDBP02701",
"database": "HMDB Protein",
"url": ""
},
{
"id": "NP_001936.1",
"database": "RefSeq",
"url": ""
}
]
},
{
"participant_id": "R-SSC-3814807",
"participant_name": "ACAN C-terminal fragment [extracellular region]",
"crossref": [
{
"id": "Q29011",
"database": "UniProt",
"url": ""
},
{
"id": "ENSG00000157766",
"database": "OpenTargets",
"url": ""
}
]
},
{
"participant_id": "R-SSC-3814816",
"participant_name": "ACAN [extracellular region]",
"crossref": [
{
"id": "Q29011",
"database": "UniProt",
"url": ""
},
{
"id": "ENSG00000157766",
"database": "OpenTargets",
"url": ""
}
]
},
{
"participant_id": "R-SSC-3814819",
"participant_name": "ACAN N-terminal fragment [extracellular region]",
"crossref": [
{
"id": "ENSG00000157766",
"database": "OpenTargets",
"url": ""
},
{
"id": "Q29011",
"database": "UniProt",
"url": ""
}
]
}
],
"reaction_enzymes": [
{
"uniprot_ac": "O60882",
"gene_name": "MMP20",
"activity": [
{
"ec_number": "3.4.24.-",
"activity": "",
"evidence": [
{
"id": "O60882",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O60882"
}
]
}
]
},
{
"uniprot_ac": "O60911",
"gene_name": "CTSV",
"activity": [
{
"ec_number": "3.4.22.43",
"activity": "The recombinant enzyme hydrolyzes proteins (serum albumin, collagen) and synthetic substrates (Z-Phe-Arg-NHMec > Z-Leu-Arg-NHMec > Z-Val-Arg-NHMec).",
"evidence": [
{
"id": "O60911",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O60911"
}
]
},
{
"ec_number": "3.4.22.43",
"activity": "",
"evidence": [
{
"id": "O60911",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O60911"
}
]
}
]
},
{
"uniprot_ac": "P00747",
"gene_name": "PLG",
"activity": [
{
"ec_number": "3.4.21.7",
"activity": "Preferential cleavage: Lys-|-Xaa > Arg-|-Xaa, higher selectivity than trypsin. Converts fibrin into soluble products.",
"evidence": [
{
"id": "P00747",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00747"
}
]
},
{
"ec_number": "3.4.21.7",
"activity": "",
"evidence": [
{
"id": "P00747",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00747"
}
]
}
]
},
{
"uniprot_ac": "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": "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": "P07711",
"gene_name": "CTSL",
"activity": [
{
"ec_number": "3.4.22.15",
"activity": "Specificity close to that of papain. As compared to cathepsin B, cathepsin L exhibits higher activity toward protein substrates, but has little activity on Z-Arg-Arg-NHMec, and no peptidyl-dipeptidase activity.",
"evidence": [
{
"id": "P07711",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P07711"
}
]
},
{
"ec_number": "3.4.22.15",
"activity": "",
"evidence": [
{
"id": "P07711",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P07711"
}
]
}
]
},
{
"uniprot_ac": "P07858",
"gene_name": "CTSB",
"activity": [
{
"ec_number": "3.4.22.1",
"activity": "Hydrolysis of proteins with broad specificity for peptide bonds. Preferentially cleaves -Arg-Arg-|-Xaa bonds in small molecule substrates (thus differing from cathepsin L). In addition to being an endopeptidase, shows peptidyl-dipeptidase activity, liberating C-terminal dipeptides.",
"evidence": [
{
"id": "P07858",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P07858"
}
]
},
{
"ec_number": "3.4.22.1",
"activity": "",
"evidence": [
{
"id": "P07858",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P07858"
}
]
}
]
},
{
"uniprot_ac": "P08069",
"gene_name": "IGF1R",
"activity": [
{
"ec_number": "2.7.10.1",
"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
"evidence": [
{
"id": "P08069",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P08069"
}
]
},
{
"ec_number": "2.7.10.1",
"activity": "",
"evidence": [
{
"id": "P08069",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P08069"
}
]
}
]
},
{
"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": "P09237",
"gene_name": "MMP7",
"activity": [
{
"ec_number": "3.4.24.23",
"activity": "Cleavage of 14-Ala-|-Leu-15 and 16-Tyr-|-Leu-17 in B chain of insulin. No action on collagen types I, II, IV, V. Cleaves gelatin chain alpha2(I) > alpha1(I).",
"evidence": [
{
"id": "P09237",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P09237"
}
]
},
{
"ec_number": "3.4.24.23",
"activity": "",
"evidence": [
{
"id": "P09237",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P09237"
}
]
}
]
},
{
"uniprot_ac": "P09238",
"gene_name": "MMP10",
"activity": [
{
"ec_number": "3.4.24.22",
"activity": "Similar to stromelysin 1, but action on collagen types III, IV and V is weak.",
"evidence": [
{
"id": "P09238",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P09238"
}
]
},
{
"ec_number": "3.4.24.22",
"activity": "",
"evidence": [
{
"id": "P09238",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P09238"
}
]
}
]
},
{
"uniprot_ac": "P13497",
"gene_name": "BMP1",
"activity": [
{
"ec_number": "3.4.24.19",
"activity": "Cleavage of the C-terminal propeptide at Ala-|-Asp in type I and II procollagens and at Arg-|-Asp in type III.",
"evidence": [
{
"id": "P13497",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P13497"
}
]
},
{
"ec_number": "3.4.24.19",
"activity": "",
"evidence": [
{
"id": "P13497",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P13497"
}
]
},
{
"ec_number": "3.4.24.-",
"activity": "",
"evidence": [
{
"id": "P13497",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P13497"
}
]
}
]
},
{
"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": "P17252",
"gene_name": "PRKCA",
"activity": [
{
"ec_number": "2.7.11.13",
"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
"evidence": [
{
"id": "P17252",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P17252"
}
]
},
{
"ec_number": "2.7.11.13",
"activity": "",
"evidence": [
{
"id": "P17252",
"database": "UniProtKB",
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