{ "uniprot_canonical_ac": "O60911-1", "uniprot_ac": "O60911", "uniprot_id": "CATL2_HUMAN", "mass": { "chemical_mass": 37329.0, "monoisotopic_mass": 37329.0 }, "refseq": { "ac": "NP_001188504", "name": "cathepsin L2 preproprotein", "summary": "The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that may play an important role in corneal physiology. This gene is expressed in colorectal and breast carcinomas but not in normal colon, mammary gland, or peritumoral tissues, suggesting a possible role for this gene in tumor processes. Alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188504" }, "gene_names": [ { "name": "CTSV", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60911", "id": "O60911" }, { "name": "CATL2; CTSL2; CTSU", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188504", "id": "NP_001188504" }, { "name": "CATL2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60911", "id": "O60911" }, { "name": "CTSL2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60911", "id": "O60911" }, { "name": "CTSU", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60911", "id": "O60911" }, { "name": "CTSV", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188504", "id": "NP_001188504" }, { "name": "PRO305", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60911", "id": "O60911" } ], "protein_names": [ { "name": "Cathepsin L2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60911" }, { "name": "3.4.22.43", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60911" }, { "name": "Cathepsin U", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60911" }, { "name": "Cathepsin V", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60911" }, { "name": "cathepsin L2 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188504", "id": "NP_001188504" }, { "name": "cathepsin U; cathepsin L2, preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188504", "id": "NP_001188504" } ], "function": [ { "annotation": "CTSV (cathepsin V) promotes bladder cancer progression by increasing NF-kappaB activity.", "evidence": [ { "database": "RefSeq", "id": "NP_001188504", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188504" }, { "database": "PubMed", "id": "35443863", "url": "https://glygen.org/publication/PubMed/35443863" } ] }, { "annotation": "Cathepsin V Mediates the Tazarotene-induced Gene 1-induced Reduction in Invasion in Colorectal Cancer Cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001188504", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188504" }, { "database": "PubMed", "id": "32918681", "url": "https://glygen.org/publication/PubMed/32918681" } ] }, { "annotation": "Cathepsin V suppresses GATA3 protein expression in luminal A breast cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001188504", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188504" }, { "database": "PubMed", "id": "33298139", "url": "https://glygen.org/publication/PubMed/33298139" } ] }, { "annotation": "Cathepsin V: Molecular characteristics and significance in health and disease. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001188504", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188504" }, { "database": "PubMed", "id": "35305807", "url": "https://glygen.org/publication/PubMed/35305807" } ] }, { "annotation": "Cysteine protease. May have an important role in corneal physiology.", "evidence": [ { "database": "UniProtKB", "id": "O60911", "url": "https://www.uniprot.org/uniprot/O60911#function" }, { "database": "PubMed", "id": "9727401", "url": "https://glygen.org/publication/PubMed/9727401" }, { "database": "PubMed", "id": "10029531", "url": "https://glygen.org/publication/PubMed/10029531" } ] }, { "annotation": "HMGB1 mediates homocysteine-induced endothelial cells pyroptosis via cathepsin V-dependent pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_001188504", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188504" }, { "database": "PubMed", "id": "32912629", "url": "https://glygen.org/publication/PubMed/32912629" } ] }, { "annotation": "The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that may play an important role in corneal physiology. This gene is expressed in colorectal and breast carcinomas but not in normal colon, mammary gland, or peritumoral tissues, suggesting a possible role for this gene in tumor processes. Alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001188504", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188504" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs752383893", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752383893" }, { "id": "rs752383893", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752383893" }, { "id": "rs752383893", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752383893" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 125, "end_pos": 125, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YVT->NVT).", "chr_id": "9", "chr_pos": "97037275", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y125", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1228566628", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1228566628" }, { "id": "rs1228566628", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1228566628#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 221, "end_pos": 221, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->DDT).", "chr_id": "9", "chr_pos": "97035654", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N221", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201037380", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201037380" }, { "id": "rs201037380", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201037380" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 223, "end_pos": 223, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->NDA).", "chr_id": "9", "chr_pos": "97035648", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T223", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761976907", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761976907" }, { "id": "rs761976907", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761976907" }, { "id": "rs761976907", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761976907#frequency_tab" }, { "id": "rs761976907", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761976907" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 292, "end_pos": 292, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->KNS).", "chr_id": "9", "chr_pos": "97034755", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N292", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776623784", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776623784" }, { "id": "rs776623784", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776623784" }, { "id": "rs776623784", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776623784" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 294, "end_pos": 294, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->NNC).", "chr_id": "9", "chr_pos": "97034751", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S294", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776623784", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776623784" }, { "id": "rs776623784", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776623784" }, { "id": "rs776623784", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776623784" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 294, "end_pos": 294, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->NNG).", "chr_id": "9", "chr_pos": "97034751", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S294", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780898535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780898535" }, { "id": "rs780898535", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780898535" }, { "id": "rs780898535", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780898535#frequency_tab" }, { "id": "rs780898535", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780898535" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 312, "end_pos": 312, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGY->NGS).", "chr_id": "9", "chr_pos": "97033019", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y312", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "81.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136943", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136943" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "82.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136943", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136943" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "66.02", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136943", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136943" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "70.13", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136943", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136943" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "53.57", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000136943", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136943" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "75.54", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136943", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136943" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "67.08", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136943", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136943" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "53.83", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000136943", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136943" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "60.61", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000136943", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136943" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "66.89", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136943", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136943" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "49.84", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000136943", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136943" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "58.94", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000136943", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136943" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "63.79", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136943", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136943" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O60911", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60911" } ], "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": "" 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"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": 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"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, 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}, { "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": 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"database": "BioXpress", "id": "O60911", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60911" } ], "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", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder 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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"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": "O60911", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60911" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60911" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"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 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"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": "O60911", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60911" } ], "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": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O60911", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60911" } ], "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": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O60911", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60911" } ], "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": "O60911", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60911" } ], "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": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60911" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, 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"UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804EQJ3-1", "url": "https://www.uniprot.org/uniprot/A0A804EQJ3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60911", "url": "https://www.uniprot.org/uniprot/O60911", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60911-1", "url": "https://www.uniprot.org/uniprot/O60911-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MNLSLVLAAFCLGIASAVPKFDQNLDTKWYQWKATHRRLYGANEEGWRRAVWEKNMKMIELHNGEYSQGKHGFTMAMNAFGDMTNEEFRQMMGCFRNQKFRKGKVFREPLFLDLPKSVDWRKKGYVTPVKNQKQCGSCWAFSATGALEGQMFRKTGKLVSLSEQNLVDCSRPQGNQGCNGGFMARAFQYVKENGGLDSEESYPYVAVDEICKYRPENSVANDTGFTVVAPGKEKALMKAVATVGPISVAMDAGHSSFQFYKSGIYFEPDCSSKNLDHGVLVVGYGFEGANSNNSKYWLVKNSWGPEWGSNGYVKIAKDKNNHCGIATAASYPNV", "length": 334, "header": "sp|O60911-1|CATL2_HUMAN Isoform 1 of Cathepsin L2 OS=Homo sapiens OX=9606 GN=CTSV PE=1 SV=2 CANONICAL=O60911-1" }, "isoforms": [ { "isoform_ac": "A0A7P0T891-1", "url": "", "sequence": { "sequence": "MNLSLVLAAFCLGIASAVPKFDQNLDTKWYQWKATHRRLYGAVGNI", "length": 46, "header": "tr|A0A7P0T891-1|CATL2_HUMAN Computationally mapped isoform of Cathepsin L2 OS=Homo sapiens OX=9606 GN=CTSV PE=1 SV=1 CANONICAL=O60911-1" }, "locus": {} }, { "isoform_ac": "A0A7P0T8X8-1", "url": "", "sequence": { "sequence": "MNLSLVLAAFCLGIASAVPKFDQNLDTKWYQWKATHRRLYGANEEGWRRAVWEKNMKMIELHNGEYSQGKHGFTMAMNAFGDMDEICKYRPENSVANDTGFTVVAPGKEKALMKAVATVGPISVAMDAGHSSFQFYKSGIYFEPDCSSKNLDHGVLVVGYGFEGANSNNSKYWLVKNSWGPEWGSNGYVKIAKDKNNHCGIATAASYPNV", "length": 210, "header": "tr|A0A7P0T8X8-1|A0A7P0T8X8_HUMAN Computationally mapped isoform of Cathepsin V OS=Homo sapiens OX=9606 GN=CTSV PE=1 SV=1 CANONICAL=O60911-1" }, "locus": { "chromosome": "9", "start_pos": 97038043, "end_pos": 97032952, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000680490.1", "url": "https://www.ensembl.org/id/ENST00000680490.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505355.1", "url": "https://www.ensembl.org/id/ENSP00000505355.1" } ] } }, { "isoform_ac": "A0A7P0T983-1", "url": "", "sequence": { "sequence": "MNLSLVLAAFCLGIASAVPKFDQNLDTKWYQWKATHRRLYGANEEGWRRAVWEKNMKMIELHNGEYSQGKHGFTMAMNAFGDMTNEEFRQMMGCFRNQKFRKGKVFREPLFLDLPKSVDWRKKGYVTPVKNQKQCGSCWAFSATGALEGQMFRKTGKLVSLSEQNLVDCSRPQGNQGCNGGFMARAFQYVKENGGLDSEESYPYVAVVNGAPYLVIRALLLESGTLSEITDTFFRIHILYGRIYICKPMKSVSTDLRILLLMTLASQWSHLERRRP", "length": 276, "header": "tr|A0A7P0T983-1|A0A7P0T983_HUMAN Computationally mapped isoform of Cathepsin V OS=Homo sapiens OX=9606 GN=CTSV PE=1 SV=1 CANONICAL=O60911-1" }, "locus": { "chromosome": "9", "start_pos": 97038043, "end_pos": 97035609, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000680385.1", "url": "https://www.ensembl.org/id/ENST00000680385.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505553.1", "url": "https://www.ensembl.org/id/ENSP00000505553.1" } ] } }, { "isoform_ac": "A0A7P0Z415-1", "url": "", "sequence": { "sequence": "MNLSLVLAAFCLGIASAVPKFDQNLDTKWYQWKATHRRLYGANEEGWRRAVWEKNMKMIELHNGEYSQGKHGFTMAMNAFGDMTNEEFRQMMGCFRNQKFRKGKVFREPLFLDLPKSVDWRKKGYVTPVKNQCGSCWAFSATGALEGQMFRKTGKLVSLSEQNLVDCSRPQGNQGCNGGFMARAFQYVKENGGLDSEESYPYVAVDEICKYRPENSVANDTGFTVVAPGKEKALMKAVATVGPISVAMDAGHSSFQFYKSGIYFEPDCSSKNLDHGVLVVGYGFEGANSNNSKYWLVKNSWGPEWGSNGYVKIAKDKNNHCGIATAASYPNV", "length": 332, "header": "tr|A0A7P0Z415-1|CATL2_HUMAN Computationally mapped isoform of Cathepsin L2 OS=Homo sapiens OX=9606 GN=CTSV PE=1 SV=1 CANONICAL=O60911-1" }, "locus": { "chromosome": "9", "start_pos": 97038043, "end_pos": 97032952, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000680221.1", "url": "https://www.ensembl.org/id/ENST00000680221.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505001.1", "url": "https://www.ensembl.org/id/ENSP00000505001.1" } ] } }, { "isoform_ac": "A0A804EQJ3-1", "url": "", "sequence": { "sequence": "MNLSLVLAAFCLGIASAVPKFDQNLDTKWYQWKATHRRLYGANEEGWRRAVWEKNMKMIELHNGEYSQGKHGFTMAMNAFGDMKQCGSCWAFSATGALEGQMFRKTGKLVSLSEQNLVDCSRPQGNQGCNGGFMARAFQYVKENGGLDSEESYPYVAVDEICKYRPENSVANDTGFTVVAPGKEKALMKAVATVGPISVAMDAGHSSFQFYKSGIYFEPDCSSKNLDHGVLVVGYGFEGANSNNSKYWLVKNSWGPEWGSNGYVKIAKDKNNHCGIATAASYPNV", "length": 285, "header": "tr|A0A804EQJ3-1|CATL2_HUMAN Computationally mapped isoform of Cathepsin L2 OS=Homo sapiens OX=9606 GN=CTSV PE=1 SV=1 CANONICAL=O60911-1" }, "locus": { "chromosome": "9", "start_pos": 97038043, "end_pos": 97032952, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000538255.6", "url": "https://www.ensembl.org/id/ENST00000538255.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000445052.2", "url": "https://www.ensembl.org/id/ENSP00000445052.2" } ] } }, { "isoform_ac": "O60911-1", "url": "", "sequence": { "sequence": "MNLSLVLAAFCLGIASAVPKFDQNLDTKWYQWKATHRRLYGANEEGWRRAVWEKNMKMIELHNGEYSQGKHGFTMAMNAFGDMTNEEFRQMMGCFRNQKFRKGKVFREPLFLDLPKSVDWRKKGYVTPVKNQKQCGSCWAFSATGALEGQMFRKTGKLVSLSEQNLVDCSRPQGNQGCNGGFMARAFQYVKENGGLDSEESYPYVAVDEICKYRPENSVANDTGFTVVAPGKEKALMKAVATVGPISVAMDAGHSSFQFYKSGIYFEPDCSSKNLDHGVLVVGYGFEGANSNNSKYWLVKNSWGPEWGSNGYVKIAKDKNNHCGIATAASYPNV", "length": 334, "header": "sp|O60911-1|CATL2_HUMAN Isoform 1 of Cathepsin L2 OS=Homo sapiens OX=9606 GN=CTSV PE=1 SV=2 CANONICAL=O60911-1" }, "locus": { "chromosome": "9", "start_pos": 97038043, "end_pos": 97032952, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000259470.6", "url": "https://www.ensembl.org/id/ENST00000259470.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000259470.5", "url": "https://www.ensembl.org/id/ENSP00000259470.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 221, "start_aa": "Asn", "end_pos": 221, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn221", "evidence": [ { "id": "O60911", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60911#ptm_processing" }, { "id": "22967898", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22967898" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "22967898", "database": "Automatic Literature Mining", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/22967898" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 292, "start_aa": "Asn", "end_pos": 292, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn292", "evidence": [ { "id": "O60911", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60911#ptm_processing" }, { "id": "22967898", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22967898" }, { "id": "22967898", "database": "Automatic Literature Mining", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/22967898" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported" ], "publication": [ { "title": "Human cathepsin V functional expression, tissue distribution, electrostatic surface potential, enzymatic characterization, and chromosomal localization.", "journal": "Biochemistry", "date": "1999", "authors": "Bromme D, Li Z, Barnes M, Mehler E", "evidence": [ { "database": "UniProtKB", "id": "O60911", "url": "https://www.uniprot.org/uniprot/O60911" } ], "reference": [ { "type": "PubMed", "id": "10029531", "url": "https://glygen.org/publication/PubMed/10029531" } ] }, { "title": "Opposing motor activities of dynein and kinesin determine retention and transport of MHC class II-containing compartments.", "journal": "Journal of cell science", "date": "1999", "authors": "Wubbolts R, Fernandez-Borja M, Jordens I, Reits E, Dusseljee S, Echeverri C, Vallee RB, Neefjes J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10036229", "url": "https://glygen.org/publication/PubMed/10036229" } ] }, { "title": "Identification of destabilizing residues in HLA class II-selected bacteriophage display libraries edited by HLA-DM.", "journal": "European journal of immunology", "date": "1999", "authors": "Raddrizzani L, Bono E, Vogt AB, Kropshofer H, Gallazzi F, Sturniolo T, Hammerling GJ, Sinigaglia F, Hammer J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": 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"type": "PubMed", "id": "9539769", "url": "https://glygen.org/publication/PubMed/9539769" } ] }, { "title": "Cathepsin L: critical role in Ii degradation and CD4 T cell selection in the thymus.", "journal": "Science (New York, N.Y.)", "date": "1998", "authors": "Nakagawa T, Roth W, Wong P, Nelson A, Farr A, Deussing J, Villadangos JA, Ploegh H, Peters C, Rudensky AY", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "9545226", "url": "https://glygen.org/publication/PubMed/9545226" } ] }, { "title": "Cathepsin L2, a novel human cysteine proteinase produced by breast and colorectal carcinomas.", "journal": "Cancer Res.", "date": "1998", "authors": "Santamar\u00eda I, Velasco G, Cazorla M, Fueyo A, Campo E, L\u00f3pez-Ot\u00edn C", "evidence": [ { "database": "UniProtKB", "id": "O60911", "url": "https://www.uniprot.org/uniprot/O60911" } ], "reference": [ { "type": 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"type": "PubMed", "id": "9606180", "url": "https://glygen.org/publication/PubMed/9606180" } ] }, { "title": "TIMP-2 promotes activation of progelatinase A by membrane-type 1 matrix metalloproteinase immobilized on agarose beads.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Kinoshita T, Sato H, Okada A, Ohuchi E, Imai K, Okada Y, Seiki M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1592389", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1592389" } ], "reference": [ { "type": "PubMed", "id": "9632662", "url": "https://glygen.org/publication/PubMed/9632662" } ] }, { "title": "Isolation and characterization of human cathepsin V: a major proteinase in corneal epithelium.", "journal": "Investigative ophthalmology & visual science", "date": "1998", "authors": "Adachi W, Kawamoto S, Ohno I, Nishida K, Kinoshita S, Matsubara K, Okubo K", "evidence": [ { "database": "UniProtKB", "id": "O60911", "url": "https://www.uniprot.org/uniprot/O60911" } ], "reference": [ { "type": "PubMed", "id": "9727401", "url": "https://glygen.org/publication/PubMed/9727401" } ] }, { "title": "CpG-DNA-specific activation of antigen-presenting cells requires stress kinase activity and is preceded by non-specific endocytosis and endosomal maturation.", "journal": "The EMBO journal", "date": "1998", "authors": "Hacker H, Mischak H, Miethke T, Liptay S, Schmid R, Sparwasser T, Heeg K, Lipford GB, Wagner H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1679131", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1679131" } ], "reference": [ { "type": "PubMed", "id": "9799232", "url": "https://glygen.org/publication/PubMed/9799232" } ] }, { "title": "Human HtrA, an evolutionarily conserved serine protease identified as a differentially expressed gene product in osteoarthritic cartilage.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Hu SI, Carozza M, Klein M, Nantermet P, Luk D, Crowl RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228" } ], "reference": [ { "type": "PubMed", "id": "9852107", "url": "https://glygen.org/publication/PubMed/9852107" } ] }, { "title": "Interaction of BP180 (type XVII collagen) and alpha6 integrin is necessary for stabilization of hemidesmosome structure.", "journal": "The Journal of investigative dermatology", "date": "1998", "authors": "Hopkinson SB, Findlay K, deHart GW, Jones JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022090", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022090" } ], "reference": [ { "type": "PubMed", "id": "9856810", "url": "https://glygen.org/publication/PubMed/9856810" } ] } ], "pathway": [ { "id": "hsa:1515", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1515", "resource": "KEGG Pathway" }, { "id": "R-HSA-1236977", "name": "Endosomal/Vacuolar pathway", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1236977", "resource": "Reactome", "description": "Endosomal/Vacuolar pathway" }, { "id": "R-HSA-1474228", "name": "Degradation of the extracellular matrix", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228", "resource": "Reactome", "description": "Degradation of the extracellular matrix" }, { "id": "R-HSA-1592389", "name": "Activation of Matrix Metalloproteinases", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1592389", "resource": "Reactome", "description": "Activation of Matrix Metalloproteinases" }, { "id": "R-HSA-1679131", "name": "Trafficking and processing of endosomal TLR", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1679131", "resource": "Reactome", "description": "Trafficking and processing of endosomal TLR" }, { "id": "R-HSA-2022090", "name": "Assembly of collagen fibrils and other multimeric structures", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022090", "resource": "Reactome", "description": "Assembly of collagen fibrils and other multimeric structures" }, { "id": "R-HSA-2132295", "name": "MHC class II antigen presentation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295", "resource": "Reactome", "description": "MHC class II antigen presentation" }, { "id": "R-HSA-8939242", "name": "RUNX1 regulates transcription of genes involved in differentiation of keratinocytes", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8939242", "resource": "Reactome", "description": "RUNX1 regulates transcription of genes involved in differentiation of keratinocytes" } ], "orthologs": [ { "uniprot_canonical_ac": "P06797-1", "protein_name": "Procathepsin L", "gene_name": "Ctsl", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MNLLLLLAVLCLGTALATPKFDQTFSAEWHQWKSTHRRLYGTNEEEWRRAIWEKNMRMIQLHNGEYSNGQHGFSMEMNAFGDMTNEEFRQVVNGYRHQKHKKGRLFQEPLMLKIPKSVDWREKGCVTPVKNQGQCGSCWAFSASGCLEGQMFLKTGKLISLSEQNLVDCSHAQGNQGCNGGLMDFAFQYIKENGGLDSEESYPYEAKDGSCKYRAEFAVANDTGFVDIPQQEKALMKAVATVGPISVAMDASHPSLQFYSSGIYYEPNCSSKNLDHGVLLVGYGYEGTDSNKNKYWLVKNSWGSEWGMEGYIKIAKDRDNHCGLATAASYPVVN", "length": 334 }, "evidence": [ { "id": "45917086", "url": "http://www.informatics.jax.org/homology/45917086", "database": "MGI" }, { "id": "O60911", "url": "https://omabrowser.org/oma/group/O60911/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P07154-1", "protein_name": "Procathepsin L", "gene_name": "Ctsl", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MTPLLLLAVLCLGTALATPKFDQTFNAQWHQWKSTHRRLYGTNEEEWRRAVWEKNMRMIQLHNGEYSNGKHGFTMEMNAFGDMTNEEFRQIVNGYRHQKHKKGRLFQEPLMLQIPKTVDWREKGCVTPVKNQGQCGSCWAFSASGCLEGQMFLKTGKLISLSEQNLVDCSHDQGNQGCNGGLMDFAFQYIKENGGLDSEESYPYEAKDGSCKYRAEYAVANDTGFVDIPQQEKALMKAVATVGPISVAMDASHPSLQFYSSGIYYEPNCSSKDLDHGVLVVGYGYEGTDSNKDKYWLVKNSWGKEWGMDGYIKIAKDRNNHCGLATAASYPIVN", "length": 334 }, "evidence": [ { "id": "45917086", "url": "http://www.informatics.jax.org/homology/45917086", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P07711-1", "protein_name": "Procathepsin L", "gene_name": "CTSL", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MNPTLILAAFCLGIASATLTFDHSLEAQWTKWKAMHNRLYGMNEEGWRRAVWEKNMKMIELHNQEYREGKHSFTMAMNAFGDMTSEEFRQVMNGFQNRKPRKGKVFQEPLFYEAPRSVDWREKGYVTPVKNQGQCGSCWAFSATGALEGQMFRKTGRLISLSEQNLVDCSGPQGNEGCNGGLMDYAFQYVQDNGGLDSEESYPYEATEESCKYNPKYSVANDTGFVDIPKQEKALMKAVATVGPISVAIDAGHESFLFYKEGIYFEPDCSSEDMDHGVLVVGYGFESTESDNNKYWLVKNSWGEEWGMGGYVKMAKDRRNHCGIASAASYPTV", "length": 333 }, "evidence": [ { "id": "45917086", "url": "http://www.informatics.jax.org/homology/45917086", "database": "MGI" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "O60911", "url": "https://www.uniprot.org/uniprot/O60911" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "O60911", "url": "https://www.uniprot.org/uniprot/O60911" } ], "pmid": "" }, { "name": "extracellular matrix disassembly", "id": "GO:0022617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022617", "evidence": [ { "database": "UniProtKB", "id": "O60911", "url": "https://www.uniprot.org/uniprot/O60911" } ], "pmid": "" }, { "name": "antigen processing and presentation of exogenous peptide antigen via MHC class II", "id": "GO:0019886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019886", "evidence": [ { "database": "UniProtKB", "id": "O60911", "url": "https://www.uniprot.org/uniprot/O60911" } ], "pmid": "" }, { "name": "positive regulation of apoptotic signaling pathway", "id": "GO:2001235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001235", "evidence": [ { "database": "UniProtKB", "id": "O60911", "url": "https://www.uniprot.org/uniprot/O60911" } ], "pmid": "" }, { "name": "proteolysis involved in protein catabolic process", "id": "GO:0051603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051603", "evidence": [ { "database": "UniProtKB", "id": "O60911", "url": "https://www.uniprot.org/uniprot/O60911" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "cysteine-type peptidase activity", "id": "GO:0008234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008234", "evidence": [ { "database": "UniProtKB", "id": "O60911", "url": "https://www.uniprot.org/uniprot/O60911" } ], "pmid": "" }, { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "O60911", "url": "https://www.uniprot.org/uniprot/O60911" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase activity", "id": "GO:0004197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004197", "evidence": [ { "database": "UniProtKB", "id": "O60911", "url": "https://www.uniprot.org/uniprot/O60911" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase activator activity involved in apoptotic process", "id": "GO:0008656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008656", "evidence": [ { "database": "UniProtKB", "id": "O60911", "url": "https://www.uniprot.org/uniprot/O60911" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "O60911", "url": "https://www.uniprot.org/uniprot/O60911" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O60911", "url": "https://www.uniprot.org/uniprot/O60911" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O60911", "url": "https://www.uniprot.org/uniprot/O60911" } ], "pmid": "" }, { "name": "lysosomal lumen", "id": "GO:0043202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043202", "evidence": [ { "database": "UniProtKB", "id": "O60911", "url": "https://www.uniprot.org/uniprot/O60911" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 221, "end_pos": 223, "annotation": "n_glycosylation_sequon" }, { "start_pos": 292, "end_pos": 294, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2, "end_pos": 4, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-HSA-1236948", "name": "Antigen processing by cathepsin S in endosoytic vesicle", "equation": "", "summary": "Endocytic compartments contain many cysteine proteases such as cathepsin S that can generate cross-presented peptides. Cathepsins may participate in the generation of MHC class II-presentated peptides (Villadangos et al. 1999). Shen et al. (2004) demonstrated that cathepsin S contributes to TAP-independent cross-presentation in vivo, showing that ovalbumin was cross-presented by denritic cells (DCs) through both TAP-dependent and TAP-independent pathways. The TAP-independent pathway was sensitive to the cystine protease inhibitor leupeptin, but not to proteasome inhibitors. Further experiments with knockout mice showed that cathepsin S contributed to cross-presentation. DCs lacking cathepsin S lack the TAP-independent pathway (Khor et al. 2008, Shen et al. 2004).", "cellular_location": "endosome lumen", "input_participant_list": [ "R-ALL-1236715" ], "output_participant_list": [ "R-ALL-1236722", "R-ALL-8943711" ], "enzyme_list": [ "P07711-1", "O60911-1", "P25774-1" ], "evidence": [ { "id": "R-HSA-1236948", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1236948" } ] }, { "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-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-1678981", "name": "TLR9 processing at neutral pH", "equation": "", "summary": "TLR9 traffics to an endosomal vesicle where it is processed by cathepsin S at neural pH to generate an N-terminal product (TLR9 N-ter, aa 1-723). The N-terminal fragment of TLR9 also binds ligand, but in contrast to the C-terminal fragment it inhibits TLR9 signaling. Thus, a proper balance between the two proteolytic events probably regulates TLR9-mediated host responses. (Chockalingam A et al 2011).", "cellular_location": "endolysosome membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P07711-1", "O60911-1", "P25774-1" ], "evidence": [ { "id": "R-HSA-1678981", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1678981" } ] }, { "id": "R-HSA-2130349", "name": "Generation of CLIP from lip10", "equation": "", "summary": "The lip10 fragments bound in the nonameric complex are processed leaving only the CLIP fragment (81-105) bound to the MHC II peptide binding groove. Three cysteine proteases have been shown to be capable of digesting lip10, each with a different expression pattern among different APC. Cathepsin (Cat) S digests Ii in B cells and dendritic cells, thymic epithelial cells use Cat L and Cat L, while Cat S and F are active in macrophages (Villadangos, 2001; Bryant et al, 2002). Cat S appears to be the major enzyme involved as demonstrated by the use of specific inhibitors and of knockout experiments (Stumptner-Cuvelette et al. 2002). Following lip10 digestion, the MHC-like molecule HLA-DM induces the exchange of CLIP fragment for a highly diverse array of antigens (Denzin & Cresswell. 1995).", "cellular_location": "lysosomal membrane, lysosomal lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9UBX1-1", "P10619-1", "P07339-1", "P07858-1", "P07711-1", "P14091-1", "P43234-1", "P53634-1", "P43235-1", "O60911-1", "P25774-1" ], "evidence": [ { "id": "R-HSA-2130349", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2130349" } ] }, { "id": "R-HSA-2130504", "name": "Cleavage of lip22 to lip10", "equation": "", "summary": "The cleavage of lip22 occurs in residues 115-125, closer to the C-terminus than CLIP (residues 81-105). The resulting lip10 fragment is approximately 100 residues long and extends just through the C-terminus of the Ii CLIP. The proteases responsible for generating lip10 in vivo are not determined. Cysteine proteases like cathepsin S (CatS) are capable of degrading lip22 to lip10 (Bania et al. 2003) but in the presence of LHVS, an inhibitor of CatS, lip22 degradation is still observed, suggesting that other proteases are involved (Villadangos et al. 1997), possibly aspartic proteinases such as cathepsins D and E (Kageyama et al. 1996). The degradation of lip22 may depend on cell type (Bania et al. 2003). The lip22 and lip10 intermediate forms are still maintained as a nonameric complex due to the existence of the last trimerisation domain in the transmembrane region.", "cellular_location": "lysosomal membrane, lysosomal lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9UBX1-1", "P10619-1", "P07339-1", "P07858-1", "P07711-1", "P14091-1", "P43234-1", "P53634-1", "P43235-1", "O60911-1", "P25774-1" ], "evidence": [ { "id": "R-HSA-2130504", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2130504" } ] }, { "id": "R-HSA-2130706", "name": "MHC class II antigen processing", "equation": "", "summary": "Antigen processing and loading on to MHC class II molecules occurs in late endocytic/lysosomal vesicles, where epitopes which require extensive proteolytic processing are generated (Bryant & Ploegh 2003). These late endosome/lysosomal-like compartments are enriched in MHC II and are referred to as MIICs (MHC class II compartments) (Peters et al. 1991). A variety of lysosomal proteases like cathepsins S, D, B etc. and Asparaginyl endopeptidase (AEP) are suggested to be involved in the processing of antigens to generate CD4+ T cell epitopes (Deusing et al. 1998, Shi et al. 1999, Pluger et al. 2002, Watts et al. 2005). An initial cleavage by endopeptidases (AEP) would be necessary to unlock the antigen and allow further trimming of the ends by exopeptidases (Cathepsins). In the acidic environment of the lysosome, cathepsins are generally activated by autocatalytic cleavage of a propeptide which otherwise blocks the active site.", "cellular_location": "lysosomal lumen", "input_participant_list": [], "output_participant_list": [ "R-ALL-2213226" ], "enzyme_list": [ "Q9UBX1-1", "P10619-1", "P07339-1", "P07858-1", "P07711-1", "P14091-1", "P43234-1", "P53634-1", "P43235-1", "O60911-1", "P25774-1" ], "evidence": [ { "id": "R-HSA-2130706", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2130706" } ] }, { "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-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-8938108", "name": "SERPINB13 binds cathepsin L", "equation": "", "summary": "SERPINB13 binds the lysosomal cystein protease cathepsin L and inhibits its catalytic activity (Jayakumar et al. 2003, Welss et al. 2003). It is uncertain whether SERPINB13 functions in the lysosomes or exclusively in the cytosol, where it would inhibit the enzymatic activity of ectopic cathepsin L (Welss et al. 2003).", "cellular_location": "lysosomal lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P07711-1", "O60911-1" ], "evidence": [ { "id": "R-HSA-8938108", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8938108" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-1236715", "participant_name": "Exogenous soluble antigen [early endosome lumen]", "crossref": [ { "id": "16670", "database": "ChEBI", "url": "" }, { "id": "C00012", "database": "COMPOUND", "url": "" } ] }, { "participant_id": "R-ALL-1236722", "participant_name": "precursor peptide fragment (>16 aa) [early endosome lumen]", "crossref": [ { "id": "25676", "database": "ChEBI", "url": "" }, { "id": "25676", "database": "ChEBI", "url": "" }, { "id": "25676", "database": "ChEBI", "url": "" }, { "id": "25676", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-2213226", "participant_name": "MHC class II epitopes [lysosomal lumen]", "crossref": [ { "id": "15841", "database": "ChEBI", "url": "" }, { "id": "15841", "database": "ChEBI", "url": "" }, { "id": "15841", "database": "ChEBI", "url": "" }, { "id": "15841", "database": "ChEBI", "url": "" }, { "id": "15841", "database": "ChEBI", "url": "" }, { "id": "15841", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-8943711", "participant_name": "L-amino acid [early endosome lumen]", "crossref": [ { "id": "59869", "database": "ChEBI", "url": "" }, { "id": "59869", "database": "ChEBI", "url": "" }, { "id": "59869", "database": "ChEBI", "url": "" }, { "id": "59869", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-HSA-1442479", "participant_name": "MMP7(95-267) [extracellular region]", "crossref": [ { "id": "MMP7_HUMAN", "database": "ZINC - 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Targets", "url": "" }, { "id": "15766", "database": "Orphanet", "url": "" }, { "id": "ENST00000359759", "database": "Ensembl", "url": "" }, { "id": "ENSG00000182871", "database": "OpenTargets", "url": "" }, { "id": "ENSP00000347665", "database": "Ensembl", "url": "" }, { "id": "1BNL", "database": "PDB", "url": "" } ] }, { "participant_id": "R-HSA-2225576", "participant_name": "COL18A1(?-1571) [extracellular region]", "crossref": [ { "id": "ENSP00000498485", "database": "Ensembl", "url": "" }, { "id": "P39060", "database": "PRO", "url": "" }, { "id": "ENST00000651438", "database": "Ensembl", "url": "" }, { "id": "ENSG00000182871-COL18A1", "database": "HPA", "url": "" }, { "id": "NP_569711.2", "database": "RefSeq", "url": "" }, { "id": "3HSH", "database": "PDB", "url": "" }, { "id": "NP_569712.2", "database": "RefSeq", "url": "" }, { "id": "ENSG00000182871", "database": "Ensembl", "url": "" }, { "id": "3HON", "database": "PDB", "url": "" }, { "id": "P39060", "database": "GeneCards", "url": "" }, { "id": "15766", "database": "Orphanet", "url": "" }, { "id": "ENST00000355480", "database": "Ensembl", "url": "" }, { "id": "HMDBP13479", "database": "HMDB Protein", "url": "" }, { "id": "NP_085059.2", "database": "RefSeq", "url": "" }, { "id": "ENSP00000352798", "database": "Ensembl", "url": "" }, { "id": "P39060", "database": "Pharos - Targets", "url": "" }, { "id": "P39060", "database": "UniProt", "url": "" }, { "id": "ENST00000359759", "database": "Ensembl", "url": "" }, { "id": "ENSG00000182871", "database": "OpenTargets", "url": "" }, { "id": "1BNL", "database": "PDB", "url": "" }, { "id": "ENSP00000347665", "database": "Ensembl", "url": "" } ] }, { "participant_id": "R-HSA-2514812", "participant_name": "Cleaved fibrillin-1 [extracellular region]", "crossref": [ { "id": "36080", "database": "ChEBI", "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": "P07339", "gene_name": "CTSD", "activity": [ { "ec_number": "3.4.23.5", "activity": "Specificity similar to, but narrower than, that of pepsin A. Does not cleave the 4-Gln-|-His-5 bond in B chain of insulin.", "evidence": [ { "id": "P07339", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07339" } ] }, { "ec_number": "3.4.23.5", "activity": "", "evidence": [ { "id": "P07339", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07339" } ] } ] }, { "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": "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": "P10619", "gene_name": "CTSA", "activity": [ { "ec_number": "3.4.16.-", "activity": "", "evidence": [ { "id": "P10619", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10619" } ] }, { "ec_number": "3.4.16.5", "activity": "Release of a C-terminal amino acid with broad specificity.", "evidence": [ { "id": "P10619", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10619" } ] }, { "ec_number": "3.4.16.5", "activity": "", "evidence": [ { "id": "P10619", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10619" } ] } ] }, { "uniprot_ac": "P14091", "gene_name": "CTSE", "activity": [ { "ec_number": "3.4.23.34", "activity": "Similar to cathepsin D, but slightly broader specificity.", "evidence": [ { "id": "P14091", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14091" } ] }, { "ec_number": "3.4.23.34", "activity": "", "evidence": [ { "id": "P14091", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14091" } ] } ] }, { "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": "P25774", "gene_name": "CTSS", "activity": [ { "ec_number": "3.4.22.27", "activity": "Similar to cathepsin L, but with much less activity on Z-Phe-Arg-|-NHMec, and more activity on the Z-Val-Val-Arg-|-Xaa compound.", "evidence": [ { "id": "P25774", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25774" } ] }, { "ec_number": "3.4.22.27", "activity": "", "evidence": [ { "id": "P25774", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25774" } ] } ] }, { "uniprot_ac": "P43234", "gene_name": "CTSO", "activity": [ { "ec_number": "3.4.22.42", "activity": "The recombinant human enzyme hydrolyzes synthetic endopeptidase substrates including Z-Phe-Arg-NHMec and Z-Arg-Arg-NHMec.", "evidence": [ { "id": "P43234", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43234" } ] }, { "ec_number": "3.4.22.42", "activity": "", "evidence": [ { "id": "P43234", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43234" } ] } ] }, { "uniprot_ac": "P43235", "gene_name": "CTSK", "activity": [ { "ec_number": "3.4.22.38", "activity": "Broad proteolytic activity. With small-molecule substrates and inhibitors, the major determinant of specificity is P2, which is preferably Leu, Met > Phe, and not Arg.", "evidence": [ { "id": "P43235", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43235" } ] }, { "ec_number": "3.4.22.38", "activity": "", "evidence": [ { "id": "P43235", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43235" } ] } ] }, { "uniprot_ac": "P45452", "gene_name": "MMP13", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "P45452", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P45452" } ] } ] }, { "uniprot_ac": "P53634", "gene_name": "CTSC", "activity": [ { "ec_number": "3.4.14.1", "activity": "Release of an N-terminal dipeptide, Xaa-Yaa-|-Zaa-, except when Xaa is Arg or Lys, or Yaa or Zaa is Pro.", "evidence": [ { "id": "P53634", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53634" } ] }, { "ec_number": "3.4.14.1", "activity": "", "evidence": [ { "id": "P53634", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53634" } ] } ] }, { "uniprot_ac": "Q9UBX1", "gene_name": "CTSF", "activity": [ { "ec_number": "3.4.22.41", "activity": "The recombinant enzyme cleaves synthetic substrates with Phe and Leu (better than Val) in P2, with high specificity constant (kcat/Km) comparable to that of cathepsin L.", "evidence": [ { "id": "Q9UBX1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UBX1" } ] }, { "ec_number": "3.4.22.41", "activity": "", "evidence": [ { "id": "Q9UBX1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UBX1" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 221, 292 ], "o_linked_sites": [], "snv_sites": [ 125, 221, 223, 292, 294, 312 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 221, "end_pos": 223 }, { "start_pos": 292, "end_pos": 294 }, { "start_pos": 2, "end_pos": 4 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 211 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }