{ "uniprot_canonical_ac": "P14091-1", "uniprot_ac": "P14091", "uniprot_id": "CATE_HUMAN", "mass": { "chemical_mass": 42794.0, "monoisotopic_mass": 42794.0 }, "refseq": { "ac": "NP_001304260", "name": "cathepsin E isoform c", "summary": "This gene encodes a member of the A1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme, an aspartic endopeptidase, may be involved in antigen processing and the maturation of secretory proteins. Elevated expression of this gene has been observed in neurodegeneration. [provided by RefSeq, Nov 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304260" }, "gene_names": [ { "name": "CTSE", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P14091", "id": "P14091" }, { "name": "CATE", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304260", "id": "NP_001304260" }, { "name": "CTSE", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304260", "id": "NP_001304260" } ], "protein_names": [ { "name": "Cathepsin E", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P14091" }, { "name": "3.4.23.34", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14091" }, { "name": "cathepsin E isoform c", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304260", "id": "NP_001304260" }, { "name": "erythrocyte membrane aspartic proteinase; slow-moving proteinase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304260", "id": "NP_001304260" } ], "function": [ { "annotation": "Cathepsin E, mitochondrial fission, and caspase activation/apoptosis are linked in the pathogenesis of pulmonary emphysema.", "evidence": [ { "database": "RefSeq", "id": "NP_001304260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304260" }, { "database": "PubMed", "id": "25239563", "url": "https://glygen.org/publication/PubMed/25239563" } ] }, { "annotation": "Emerging roles of cathepsin E in immune system cells and skin keratinocytes, and in host defense against cancer cells. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001304260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304260" }, { "database": "PubMed", "id": "21664991", "url": "https://glygen.org/publication/PubMed/21664991" } ] }, { "annotation": "High Expression of Cathepsin E is associated with Tissues but Not Blood of Patients with Barrett's Esophagus and Adenocarcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001304260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304260" }, { "database": "PubMed", "id": "25348778", "url": "https://glygen.org/publication/PubMed/25348778" } ] }, { "annotation": "Higher contents of cathepsin A, D, and E in the wall of the aortic aneurysms and a positive correlation between the concentration of cathepsin A and D and the width of the aneurysmal widening, suggests the participation of these enzymes in the pathogenesis of the aneurysm.", "evidence": [ { "database": "RefSeq", "id": "NP_001304260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304260" }, { "database": "PubMed", "id": "30278264", "url": "https://glygen.org/publication/PubMed/30278264" } ] }, { "annotation": "May have a role in immune function. Probably involved in the processing of antigenic peptides during MHC class II-mediated antigen presentation. May play a role in activation-induced lymphocyte depletion in the thymus, and in neuronal degeneration and glial cell activation in the brain.", "evidence": [ { "database": "UniProtKB", "id": "A0A7I2V648", "url": "https://www.uniprot.org/uniprot/A0A7I2V648#function" }, { "database": "UniProtKB", "id": "ARBA00024985", "url": "https://www.uniprot.org/uniprot/ARBA00024985#function" }, { "database": "UniProtKB", "id": "A0A7I2V4K7", "url": "https://www.uniprot.org/uniprot/A0A7I2V4K7#function" }, { "database": "UniProtKB", "id": "P14091", "url": "https://www.uniprot.org/uniprot/P14091#function" }, { "database": "PubMed", "id": "8765029", "url": "https://glygen.org/publication/PubMed/8765029" }, { "database": "UniProtKB", "id": "A0A7I2V480", "url": "https://www.uniprot.org/uniprot/A0A7I2V480#function" }, { "database": "UniProtKB", "id": "A0A7P0MPN9", "url": "https://www.uniprot.org/uniprot/A0A7P0MPN9#function" } ] }, { "annotation": "Microglial cathepsin E plays a role in neuroinflammation and amyloid beta production in Alzheimer's disease.", "evidence": [ { "database": "RefSeq", "id": "NP_001304260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304260" }, { "database": "PubMed", "id": "35181976", "url": "https://glygen.org/publication/PubMed/35181976" } ] }, { "annotation": "This gene encodes a member of the A1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme, an aspartic endopeptidase, may be involved in antigen processing and the maturation of secretory proteins. Elevated expression of this gene has been observed in neurodegeneration. [provided by RefSeq, Nov 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_001304260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304260" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1553278310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1553278310" }, { "id": "rs1553278310", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1553278310" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 141, "end_pos": 141, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TGS->NGS).", "chr_id": "1", "chr_pos": "206021089", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T141", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs546775363", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs546775363" }, { "id": "rs546775363", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs546775363" }, { "id": "rs546775363", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs546775363" }, { "id": "rs546775363", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs546775363#frequency_tab" }, { "id": "rs546775363", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs546775363" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 237, "end_pos": 237, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DHS->NHS).", "chr_id": "1", "chr_pos": "206013848", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "D237", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs199845829", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199845829" }, { "id": "rs199845829", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs199845829" }, { "id": "rs199845829", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199845829" }, { "id": "rs199845829", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199845829#frequency_tab" }, { "id": "rs199845829", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199845829" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 301, "end_pos": 301, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAI->NAT).", "chr_id": "1", "chr_pos": "206012533", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000998", "site_lbl": "I301", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs140920478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140920478" }, { "id": "rs140920478", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs140920478" }, { "id": "rs140920478", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140920478" }, { "id": "rs140920478", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140920478#frequency_tab" }, { "id": "rs140920478", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140920478" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 318, "end_pos": 318, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLN->NLS).", "chr_id": "1", "chr_pos": "206012381", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000599", "site_lbl": "N318", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781976652", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781976652" }, { "id": "rs781976652", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781976652" }, { "id": "rs781976652", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781976652#frequency_tab" }, { "id": "rs781976652", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781976652" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 320, "end_pos": 320, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVM->NVT).", "chr_id": "1", "chr_pos": "206012375", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M320", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs782013744", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782013744" }, { "id": "rs782013744", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782013744" }, { "id": "rs782013744", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782013744" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 322, "end_pos": 322, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DVT->NVT).", "chr_id": "1", "chr_pos": "206012370", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D322", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376437283", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376437283" }, { "id": "rs376437283", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376437283" }, { "id": "rs376437283", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376437283#frequency_tab" }, { "id": "rs376437283", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376437283" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 74, "end_pos": 74, "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NYL->NYS).", "chr_id": "1", "chr_pos": "206022905", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L74", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1216107526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1216107526" }, { "id": "rs1216107526", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1216107526#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 84, "end_pos": 84, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IGS->NGS).", "chr_id": "1", "chr_pos": "206022242", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I84", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1186273450", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1186273450" }, { "id": "rs1186273450", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1186273450#frequency_tab" }, { "id": "rs1186273450", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1186273450" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 92, "end_pos": 92, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->NFA).", "chr_id": "1", "chr_pos": "206022219", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T92", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1186273450", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1186273450" }, { "id": "rs1186273450", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1186273450#frequency_tab" }, { "id": "rs1186273450", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1186273450" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 92, "end_pos": 92, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->NFP).", "chr_id": "1", "chr_pos": "206022219", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T92", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 60, "end_pos": 60, "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes homodimerization.", "evidence": [ { "database": "UniProtKB", "id": "P14091", "url": "https://www.uniprot.org/uniprot/P14091" }, { "database": "PubMed", "id": "7789521", "url": "https://glygen.org/publication/PubMed/7789521" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "56.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196188", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196188" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "44.12", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196188", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196188" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "97.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000196188", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196188" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "71.06", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196188", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196188" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "52.98", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196188", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196188" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "91.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000196188", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196188" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "54.39", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196188", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196188" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "74.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000196188", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196188" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "76.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000196188", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196188" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "68.72", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196188", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196188" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "46.56", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196188", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196188" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "45.14", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196188", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196188" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "38.22", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000196188", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196188" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P14091", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14091" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P14091", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14091" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P14091", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14091" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P14091", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14091" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P14091", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14091" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P14091", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14091" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P14091", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14091" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P14091", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14091" } ], "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": "P14091", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14091" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P14091", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14091" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P14091", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14091" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P14091", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14091" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P14091", "url": "https://www.uniprot.org/uniprot/P14091" } ], "common_name": "Human" } ], "gene": [ { "name": "CTSE", "url": "https://www.uniprot.org/uniprot/P14091", "locus": { "chromosome": "1", "start_pos": 206008535, "end_pos": 206023909, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000196188", "url": "https://www.ensembl.org/id/ENSG00000196188" } ] } } ], "crossref": [ { "id": "ENSG00000196188", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196188", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "3.4.23.34", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=3.4.23.34&UniProtAcc=P14091", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd05486", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd05486", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL3092", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL3092", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "CTSE", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSE", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "1510", "url": "https://www.ncbi.nlm.nih.gov/gene/1510", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "2530", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2530", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P14091", "url": "https://www.ebi.ac.uk/intact/interactors/id:P14091*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001461", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001461", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001969", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001969", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR012848", "url": "https://www.ebi.ac.uk/interpro/entry/IPR012848", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR021109", "url": "https://www.ebi.ac.uk/interpro/entry/IPR021109", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR033121", "url": "https://www.ebi.ac.uk/interpro/entry/IPR033121", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:1510", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1510", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "116890", "url": "http://www.omim.org/entry/116890", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P14091", "url": "https://www.nextprot.org/entry/NX_P14091", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "GVECANL", "url": "https://omabrowser.org/oma/group/GVECANL/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1120702at2759", "url": "http://www.orthodb.org/?query=1120702at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR47966", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR47966", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR47966:SF26", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR47966:SF26", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1TZS", "url": "https://www.rcsb.org/structure/1TZS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00026", "url": "http://pfam.xfam.org/family/PF00026", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07966", "url": "http://pfam.xfam.org/family/PF07966", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P14091", "url": "https://pharos.nih.gov/targets/P14091", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P14091", "url": "http://purl.obolibrary.org/obo/PR_P14091", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001304260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304260", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A7I2V480", "url": "https://www.uniprot.org/uniprot/A0A7I2V480", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V480-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V480-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V4C5", "url": "https://www.uniprot.org/uniprot/A0A7I2V4C5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V4C5-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V4C5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V4K7", "url": "https://www.uniprot.org/uniprot/A0A7I2V4K7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V4K7-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V4K7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V648", "url": "https://www.uniprot.org/uniprot/A0A7I2V648", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V648-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V648-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0MPN9", "url": "https://www.uniprot.org/uniprot/A0A7P0MPN9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0MPN9-1", "url": "https://www.uniprot.org/uniprot/A0A7P0MPN9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P14091", "url": "https://www.uniprot.org/uniprot/P14091", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P14091-1", "url": "https://www.uniprot.org/uniprot/P14091-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P14091-2", "url": "https://www.uniprot.org/uniprot/P14091-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P14091-3", "url": "https://www.uniprot.org/uniprot/P14091-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MKTLLLLLLVLLELGEAQGSLHRVPLRRHPSLKKKLRARSQLSEFWKSHNLDMIQFTESCSMDQSAKEPLINYLDMEYFGTISIGSPPQNFTVIFDTGSSNLWVPSVYCTSPACKTHSRFQPSQSSTYSQPGQSFSIQYGTGSLSGIIGADQVSVEGLTVVGQQFGESVTEPGQTFVDAEFDGILGLGYPSLAVGGVTPVFDNMMAQNLVDLPMFSVYMSSNPEGGAGSELIFGGYDHSHFSGSLNWVPVTKQAYWQIALDNIQVGGTVMFCSEGCQAIVDTGTSLITGPSDKIKQLQNAIGAAPVDGEYAVECANLNVMPDVTFTINGVPYTLSPTAYTLLDFVDGMQFCSSGFQGLDIHPPAGPLWILGDVFIRQFYSVFDRGNNRVGLAPAVP", "length": 396, "header": "sp|P14091-1|CATE_HUMAN Isoform 1 of Cathepsin E OS=Homo sapiens OX=9606 GN=CTSE PE=1 SV=3 CANONICAL=P14091-1" }, "isoforms": [ { "isoform_ac": "A0A7I2V480-1", "url": "", "sequence": { "sequence": "MKTLLLLLLVLLELGEAQGSLHRVPLRRHPSLKKKLRARSQLSEFWKSHNLDMIQFTESCSMDQSAKEPLINYLDMEYFGTISIGSPPQNFTVIFDTGSSNLWVPSVYCTSPACKTHSRFQPSQSSTYSQPGQSFSIQYGTGSLSGIIGADQVSVEGLTVVGQQFGESVTEPGQTFVDAEFDGILGLGYPSLAVGGVTPVFDNMMAQNLVDLPMFSVYMSSNPEGGAGSELIFGGYDHSHFSGSLNWVPVTKQAYWQIALDNIQVGGTVMFCSEGCQAIVDTGTSLITGPSDKIKQLQNAIGAAPVDGEDFVDGMQFCSSGFQGLDIHPPAGPLWILGDVFIRQFYSVFDRGNNRVGLAPAVP", "length": 363, "header": "tr|A0A7I2V480-1|A0A7I2V480_HUMAN Computationally mapped isoform of Cathepsin E OS=Homo sapiens OX=9606 GN=CTSE PE=1 SV=1 CANONICAL=P14091-1" }, "locus": { "chromosome": "1", "start_pos": 206023791, "end_pos": 206010186, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678712.1", "url": "https://www.ensembl.org/id/ENST00000678712.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503796.1", "url": "https://www.ensembl.org/id/ENSP00000503796.1" } ] } }, { "isoform_ac": "A0A7I2V4C5-1", "url": "", "sequence": { "sequence": "MKTLLLLLLVLLELGEAQGSLHRWNTSALSPLAPHHRTSLSSSTLAPPTSGSPLCTALAQPARRTAGSSLPSPAHTASQVNLSPFSMEPGACPGSLEPTKSLWKD", "length": 105, "header": "tr|A0A7I2V4C5-1|A0A7I2V4C5_HUMAN Computationally mapped isoform of Cathepsin E OS=Homo sapiens OX=9606 GN=CTSE PE=4 SV=1 CANONICAL=P14091-1" }, "locus": { "chromosome": "1", "start_pos": 206023791, "end_pos": 206016121, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677780.1", "url": "https://www.ensembl.org/id/ENST00000677780.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503890.1", "url": "https://www.ensembl.org/id/ENSP00000503890.1" } ] } }, { "isoform_ac": "A0A7I2V4K7-1", "url": "", "sequence": { "sequence": "MKTLLLLLLVLLELGEAQGSLHRVPLRRHPSLKKKLRARSQLSEFWKSHNLDMIQFTESCSMDQSAKEPLINYLDMEYFGTISIGSPPQNFTVIFDTGSSNLWVPSVYCTSPACKTHSRFQPSQSSTYSQPGQSFSIQYGTGSLSGIIGADQVSVEGLTVVGQQFGESVTEPGQTFVDAEFDGILGLGYPSLAVGGVTPVFDNMMAQNLVDLPMFSVYMSRTSFSRRLGKVGCNGEYQGLAVRLAWI", "length": 247, "header": "tr|A0A7I2V4K7-1|CATE_HUMAN Computationally mapped isoform of Cathepsin E OS=Homo sapiens OX=9606 GN=CTSE PE=1 SV=1 CANONICAL=P14091-1" }, "locus": { "chromosome": "1", "start_pos": 206023791, "end_pos": 206014715, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678285.1", "url": "https://www.ensembl.org/id/ENST00000678285.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504037.1", "url": "https://www.ensembl.org/id/ENSP00000504037.1" } ] } }, { "isoform_ac": "A0A7I2V648-1", "url": "", "sequence": { "sequence": "MKTLLLLLLVLLELGEAQGSLHRVPLRRHPSLKKKLRARSQLSEFWKSHNLDMIQFTESCSMDQSAKEPLINYLDMEYFGTISIGSPPQNFTVIFDTGSSNLWVPSVYCTSPACMHFFPETHSRFQPSQSSTYSQPGQSFSIQYGTGSLSGIIGADQVSVEGLTVVGQQFGESVTEPGQTFVDAEFDGILGLGYPSLAVGGVTPVFDNMMAQNLVDLPMFSVYMSSNPEGGAGSELIFGGYDHSHFSGSLNWVPVTKQAYWQIALD", "length": 266, "header": "tr|A0A7I2V648-1|CATE_HUMAN Computationally mapped isoform of Cathepsin E OS=Homo sapiens OX=9606 GN=CTSE PE=1 SV=1 CANONICAL=P14091-1" }, "locus": { "chromosome": "1", "start_pos": 206023791, "end_pos": 206013774, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677924.1", "url": "https://www.ensembl.org/id/ENST00000677924.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504853.1", "url": "https://www.ensembl.org/id/ENSP00000504853.1" } ] } }, { "isoform_ac": "A0A7P0MPN9-1", "url": "", "sequence": { "sequence": "MKTLLLLLLVLLELGEAQGSLHRVPLRRHPSLKKKLRARSQLSEFWKSHNLDMIQFTESCSMDQSAKEPLINYLDMEYFGTISIGSPPQNFTVIFDTGSSNLWVPSVYCTSPACKTHSRFQPSQSSTYSQPGQSFSIQYGTGSLSGIIGADQVSAFSYQVEGLTVVGQQFGESVTEPGQTFVDAEFDGILGLGYPSLAVGGVTPVFDNMMAQNLVDLPMFSVYMSSNPEGGAGSELIFGGYDHSHFSGSLNWVPVTKQAYWQIALDNIQVGGTVMFCSEGCQAIVDTGTSLITGPSDKIKQLQNAIGAAPVDGEYAVECANLNVMPDVTFTINGVPYTLSPTAYTLLDFVDGMQFCSSGFQGLDIHPPAGPLWILGDVFIRQFYSVFDRGNNRVGLAPAVP", "length": 401, "header": "tr|A0A7P0MPN9-1|CATE_HUMAN Computationally mapped isoform of Cathepsin E OS=Homo sapiens OX=9606 GN=CTSE PE=1 SV=1 CANONICAL=P14091-1" }, "locus": { "chromosome": "1", "start_pos": 206023791, "end_pos": 206010186, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000360218.3", "url": "https://www.ensembl.org/id/ENST00000360218.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000353350.3", "url": "https://www.ensembl.org/id/ENSP00000353350.3" } ] } }, { "isoform_ac": "P14091-1", "url": "", "sequence": { "sequence": "MKTLLLLLLVLLELGEAQGSLHRVPLRRHPSLKKKLRARSQLSEFWKSHNLDMIQFTESCSMDQSAKEPLINYLDMEYFGTISIGSPPQNFTVIFDTGSSNLWVPSVYCTSPACKTHSRFQPSQSSTYSQPGQSFSIQYGTGSLSGIIGADQVSVEGLTVVGQQFGESVTEPGQTFVDAEFDGILGLGYPSLAVGGVTPVFDNMMAQNLVDLPMFSVYMSSNPEGGAGSELIFGGYDHSHFSGSLNWVPVTKQAYWQIALDNIQVGGTVMFCSEGCQAIVDTGTSLITGPSDKIKQLQNAIGAAPVDGEYAVECANLNVMPDVTFTINGVPYTLSPTAYTLLDFVDGMQFCSSGFQGLDIHPPAGPLWILGDVFIRQFYSVFDRGNNRVGLAPAVP", "length": 396, "header": "sp|P14091-1|CATE_HUMAN Isoform 1 of Cathepsin E OS=Homo sapiens OX=9606 GN=CTSE PE=1 SV=3 CANONICAL=P14091-1" }, "locus": { "chromosome": "1", "start_pos": 206023791, "end_pos": 206010186, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000358184.7", "url": "https://www.ensembl.org/id/ENST00000358184.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000350911.2", "url": "https://www.ensembl.org/id/ENSP00000350911.2" } ] } }, { "isoform_ac": "P14091-2", "url": "", "sequence": { "sequence": "MKTLLLLLLVLLELGEAQGSLHRVPLRRHPSLKKKLRARSQLSEFWKSHNLDMIQFTESCSMDQSAKEPLINYLDMEYFGTISIGSPPQNFTVIFDTGSSNLWVPSVYCTSPACKTHSRFQPSQSSTYSQPGQSFSIQYGTGSLSGIIGADQVSVEGLTVVGQQFGESVTEPGQTFVDAEFDGILGLGYPSLAVGGVTPVFDNMMAQNLVDLPMFSVYMSSNPEGGAGSELIFGGYDHSHFSGSLNWVPVTKQAYWQIALDNMLWSVPTLTSCRMSPSPLTESPIPSAQLPTPYWTSWMECSSAAVAFKDLTSTLQLGPSGSWGMSSFDSFTQSLTVGITVWDWPQQSPKEGPCVCACLSDRP", "length": 363, "header": "sp|P14091-2|CATE_HUMAN Isoform 2 of Cathepsin E OS=Homo sapiens OX=9606 GN=CTSE PE=1 SV=3 CANONICAL=P14091-1" }, "locus": { "chromosome": "1", "start_pos": 206023791, "end_pos": 206010143, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678498.1", "url": "https://www.ensembl.org/id/ENST00000678498.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504305.1", "url": "https://www.ensembl.org/id/ENSP00000504305.1" } ] } }, { "isoform_ac": "P14091-3", "url": "", "sequence": { "sequence": "MKTLLLLLLVLLELGEAQGSLHRVPLRRHPSLKKKLRARSQLSEFWKSHNLDMIQFTESCSMDQSAKEPLINYLDMEYFGTISIGSPPQNFTVIFDTGSSNLWVPSVYCTSPACKTHSRFQPSQSSTYSQPGQSFSIQYGTGSLSGIIGADQVSAFATQVEGLTVVGQQFGESVTEPGQTFVDAEFDGILGLGYPSLAVGGVTPVFDNMMAQNLVDLPMFSVYMSSNPEGGAGSELIFGGYDHSHFSGSLNWVPVTKQAYWQIALDNIQVGGTVMFCSEGCQAIVDTGTSLITGPSDKIKQLQNAIGAAPVDGEYAVECANLNVMPDVTFTINGVPYTLSPTAYTLLDFVDGMQFCSSGFQGLDIHPPAGPLWILGDVFIRQFYSVFDRGNNRVGLAPAVP", "length": 401, "header": "sp|P14091-3|CATE_HUMAN Isoform 3 of Cathepsin E OS=Homo sapiens OX=9606 GN=CTSE PE=1 SV=3 CANONICAL=P14091-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 90, "start_aa": "Asn", "end_pos": 90, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn90", "evidence": [ { "id": "P14091", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14091#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 136, "end_pos": 136, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14091", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14091" }, { "database": "PubMed", "id": "32387766", "url": "" } ], "site_lbl": "Ser136" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "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": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10064083", "url": "https://glygen.org/publication/PubMed/10064083" } ] }, { "title": "Cathepsin S required for normal MHC class II peptide loading and germinal center development.", "journal": "Immunity", "date": "1999", "authors": "Shi GP, Villadangos JA, Dranoff G, Small C, Gu L, Haley KJ, Riese R, Ploegh HL, Chapman HA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10072072", "url": "https://glygen.org/publication/PubMed/10072072" } ] }, { "title": "Direct transport of newly synthesized HLA-DR from the trans-Golgi network to major histocompatibility complex class II containing compartments (MIICS) demonstrated using a novel tyrosine-sulfated chimera.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Davidson HW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10480952", "url": "https://glygen.org/publication/PubMed/10480952" } ] }, { "title": "Cell surface expression and metabolism of major histocompatibility complex class II invariant chain (CD74) by diverse cell lines.", "journal": "Immunology", "date": "1999", "authors": "Ong GL, Goldenberg DM, Hansen HJ, Mattes MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10540230", "url": "https://glygen.org/publication/PubMed/10540230" } ] }, { "title": "The leucine-based sorting motifs in the cytoplasmic domain of the invariant chain are recognized by the clathrin adaptors AP1 and AP2 and their medium chains.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Hofmann MW, Honing S, Rodionov D, Dobberstein B, von Figura K, Bakke O", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10593899", "url": "https://glygen.org/publication/PubMed/10593899" } ] }, { "title": "Proteases involved in MHC class II antigen presentation.", "journal": "Immunological reviews", "date": "1999", "authors": "Villadangos JA, Bryant RA, Deussing J, Driessen C, Lennon-Dumenil AM, Riese RJ, Roth W, Saftig P, Shi GP, Chapman HA, Peters C, Ploegh HL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10631941", "url": "https://glygen.org/publication/PubMed/10631941" } ] }, { "title": "The impact of the non-classical MHC proteins HLA-DM and HLA-DO on loading of MHC class II molecules.", "journal": "Immunological reviews", "date": "1999", "authors": "Kropshofer H, Hammerling GJ, Vogt AB", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10631952", "url": "https://glygen.org/publication/PubMed/10631952" } ] }, { "title": "Enzymatic reduction of disulfide bonds in lysosomes: characterization of a gamma-interferon-inducible lysosomal thiol reductase (GILT).", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Arunachalam B, Phan UT, Geuze HJ, Cresswell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10639150", "url": "https://glygen.org/publication/PubMed/10639150" } ] }, { "title": "Role for cathepsin F in invariant chain processing and major histocompatibility complex class II peptide loading by macrophages.", "journal": "The Journal of experimental medicine", "date": "2000", "authors": "Shi GP, Bryant RA, Riese R, Verhelst S, Driessen C, Li Z, Bromme D, Ploegh HL, Chapman HA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10748235", "url": "https://glygen.org/publication/PubMed/10748235" } ] }, { "title": "Lysosomal cathepsin B plays an important role in antigen processing, while cathepsin D is involved in degradation of the invariant chain inovalbumin-immunized mice.", "journal": "Immunology", "date": "2000", "authors": "Zhang T, Maekawa Y, Hanba J, Dainichi T, Nashed BF, Hisaeda H, Sakai T, Asao T, Himeno K, Good RA, Katunuma N", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10809954", "url": "https://glygen.org/publication/PubMed/10809954" } ] }, { "title": "Regulation of human and mouse procathepsin E gene expression.", "journal": "Eur. J. Biochem.", "date": "2001", "authors": "Cook M, Caswell R C, Richards R J, Kay J, Tatnell P J", "evidence": [ { "database": "UniProtKB", "id": "P14091", "url": "https://www.uniprot.org/uniprot/P14091" } ], "reference": [ { "type": "PubMed", "id": "11322887", "url": "https://glygen.org/publication/PubMed/11322887" } ] }, { "title": "Trans-Golgi network sorting.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2001", "authors": "Gu F, Crump CM, Thomas G", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "11529500", "url": "https://glygen.org/publication/PubMed/11529500" } ] }, { "title": "Presentation of antigens by MHC class II molecules: getting the most out of them.", "journal": "Molecular immunology", "date": "2001", "authors": "Villadangos JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "11684289", "url": "https://glygen.org/publication/PubMed/11684289" } ] }, { "title": "Trafficking of MHC class II molecules in the late secretory pathway.", "journal": "Current opinion in immunology", "date": "2002", "authors": "Hiltbold EM, Roche PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "11790530", "url": "https://glygen.org/publication/PubMed/11790530" } ] }, { "title": "Specific role for cathepsin S in the generation of antigenic peptides in vivo.", "journal": "European journal of immunology", "date": "2002", "authors": "Pluger EB, Boes M, Alfonso C, Schroter CJ, Kalbacher H, Ploegh HL, Driessen C", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "11813165", "url": "https://glygen.org/publication/PubMed/11813165" } ] }, { "title": "Multiple roles of the invariant chain in MHC class II function.", "journal": "Biochimica et biophysica acta", "date": "2002", "authors": "Stumptner-Cuvelette P, Benaroch P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "11853874", "url": "https://glygen.org/publication/PubMed/11853874" } ] }, { "title": "Proteolysis and antigen presentation by MHC class II molecules.", "journal": "Advances in immunology", "date": "2002", "authors": "Bryant PW, Lennon-Dumenil AM, Fiebiger E, Lagaudriere-Gesbert C, Ploegh HL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "12078484", "url": "https://glygen.org/publication/PubMed/12078484" } ] }, { "title": "Dendritic cell maturation triggers retrograde MHC class II transport from lysosomes to the plasma membrane.", "journal": "Nature", "date": "2002", "authors": "Chow A, Toomre D, Garrett W, Mellman I", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "12198549", "url": "https://glygen.org/publication/PubMed/12198549" } ] }, { "title": "An alternatively spliced variant of cathepsin E in human gastric adenocarcinoma cells.", "journal": "Biochim. Biophys. Acta", "date": "2003", "authors": "Tatnell Peter J, Cook Matthew, Kay John", "evidence": [ { "database": "UniProtKB", "id": "P14091", "url": "https://www.uniprot.org/uniprot/P14091" } ], "reference": [ { "type": "PubMed", "id": "12531480", "url": "https://glygen.org/publication/PubMed/12531480" } ] }, { "title": "Antigen processing and presentation in human muscle: cathepsin S is critical for MHC class II expression and upregulated in inflammatory myopathies.", "journal": "Journal of neuroimmunology", "date": "2003", "authors": "Wiendl H, Lautwein A, Mitsdorffer M, Krause S, Erfurth S, Wienhold W, Morgalla M, Weber E, Overkleeft HS, Lochmuller H, Melms A, Tolosa E, Driessen C", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "12742663", "url": "https://glygen.org/publication/PubMed/12742663" } ] }, { "title": "Human cathepsin S, but not cathepsin L, degrades efficiently MHC class II-associated invariant chain in nonprofessional APCs.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Bania J, Gatti E, Lelouard H, David A, Cappello F, Weber E, Camosseto V, Pierre P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "12748383", "url": "https://glygen.org/publication/PubMed/12748383" } ] }, { "title": "Human gastric cathepsin E gene. Multiple transcripts result from alternative polyadenylation of the primary transcripts of a single gene locus at 1q31-q32.", "journal": "J. Biol. Chem.", "date": "1992", "authors": "Azuma T, Liu W G, Vander Laan D J, Bowcock A M, Taggart R T", "evidence": [ { "database": "UniProtKB", "id": "P14091", "url": "https://www.uniprot.org/uniprot/P14091" } ], "reference": [ { "type": "PubMed", "id": "1370478", "url": "https://glygen.org/publication/PubMed/1370478" } ] }, { "title": "Targeting of membrane proteins to endosomes and lysosomes.", "journal": "Trends in cell biology", "date": "1994", "authors": "Sandoval IV, Bakke O", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "14731593", "url": "https://glygen.org/publication/PubMed/14731593" } ] }, { "title": "AP2 clathrin adaptor complex, but not AP1, controls the access of the major histocompatibility complex (MHC) class II to endosomes.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Dugast M, Toussaint H, Dousset C, Benaroch P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "15749704", "url": "https://glygen.org/publication/PubMed/15749704" } ] }, { "title": "Involvement of clathrin and AP-2 in the trafficking of MHC class II molecules to antigen-processing compartments.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "McCormick PJ, Martina JA, Bonifacino JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "15911768", "url": "https://glygen.org/publication/PubMed/15911768" } ] }, { "title": "Asparaginyl endopeptidase: case history of a class II MHC compartment protease.", "journal": "Immunological reviews", "date": "2005", "authors": "Watts C, Matthews SP, Mazzeo D, Manoury B, Moss CX", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "16181339", "url": "https://glygen.org/publication/PubMed/16181339" } ] }, { "title": "Assembly of major histocompatibility complex class II subunits with invariant chain.", "journal": "FEBS letters", "date": "2005", "authors": "Neumann J, Koch N", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "16242130", "url": "https://glygen.org/publication/PubMed/16242130" } ] }, { "title": "Invariant chain transmembrane domain trimerization: a step in MHC class II assembly.", "journal": "Biochemistry", "date": "2006", "authors": "Dixon AM, Stanley BJ, Matthews EE, Dawson JP, Engelman DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "16618111", "url": "https://glygen.org/publication/PubMed/16618111" } ] }, { "title": "The formation of TGN-to-plasma-membrane transport carriers.", "journal": "Annual review of cell and developmental biology", "date": "2006", "authors": "Bard F, Malhotra V", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "16824007", "url": "https://glygen.org/publication/PubMed/16824007" } ] }, { "title": "Functional requirements for the lysosomal thiol reductase GILT in MHC class II-restricted antigen processing.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2006", "authors": "Hastings KT, Lackman RL, Cresswell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "17142755", "url": "https://glygen.org/publication/PubMed/17142755" } ] }, { "title": "Activation of endosomal dynein motors by stepwise assembly of Rab7-RILP-p150Glued, ORP1L, and the receptor betalll spectrin.", "journal": "The Journal of cell biology", "date": "2007", "authors": "Johansson M, Rocha N, Zwart W, Jordens I, Janssen L, Kuijl C, Olkkonen VM, Neefjes J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "17283181", "url": "https://glygen.org/publication/PubMed/17283181" } ] }, { "title": "MHC class II molecules on the move for successful antigen presentation.", "journal": "The EMBO journal", "date": "2008", "authors": "Rocha N, Neefjes J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "18046453", "url": "https://glygen.org/publication/PubMed/18046453" } ] }, { "title": "Lysosomal cysteine and aspartic proteases are heterogeneously expressed and act redundantly to initiate human invariant chain degradation.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2008", "authors": "Costantino CM, Hang HC, Kent SC, Hafler DA, Ploegh HL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "18292509", "url": "https://glygen.org/publication/PubMed/18292509" } ] }, { "title": "Formation of a nine-subunit complex by HLA class II glycoproteins and the invariant chain.", "journal": "Nature", "date": "1991", "authors": "Roche PA, Marks MS, Cresswell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "1956401", "url": "https://glygen.org/publication/PubMed/1956401" } ] }, { "title": "Cholesterol sensor ORP1L contacts the ER protein VAP to control Rab7-RILP-p150 Glued and late endosome positioning.", "journal": "The Journal of cell biology", "date": "2009", "authors": "Rocha N, Kuijl C, van der Kant R, Janssen L, Houben D, Janssen H, Zwart W, Neefjes J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "19564404", "url": "https://glygen.org/publication/PubMed/19564404" } ] }, { "title": "Invariant chain increases the half-life of MHC II by delaying endosomal maturation.", "journal": "Immunology and cell biology", "date": "2011", "authors": "Landsverk OJ, Barois N, Gregers TF, Bakke O", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "21116285", "url": "https://glygen.org/publication/PubMed/21116285" } ] }, { "title": "MHC class II-associated invariant chain contains a sorting signal for endosomal compartments.", "journal": "Cell", "date": "1990", "authors": "Bakke O, Dobberstein B", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "2121367", "url": "https://glygen.org/publication/PubMed/2121367" } ] }, { "title": "MHC class II engagement by its ligand LAG-3 (CD223) contributes to melanoma resistance to apoptosis.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2011", "authors": "Hemon P, Jean-Louis F, Ramgolam K, Brignone C, Viguier M, Bachelez H, Triebel F, Charron D, Aoudjit F, Al-Daccak R, Michel L", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "21441454", "url": "https://glygen.org/publication/PubMed/21441454" } ] }, { "title": "Emerging roles of cathepsin E in host defense mechanisms.", "journal": "Biochimica et biophysica acta", "date": "2012", "authors": "Yamamoto K, Kawakubo T, Yasukochi A, Tsukuba T", "evidence": [ { "database": "RefSeq", "id": "NP_001304260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304260" } ], "reference": [ { "type": "PubMed", "id": "21664991", "url": "https://glygen.org/publication/PubMed/21664991" } ] }, { "title": "Invariant chain association with HLA-DR molecules inhibits immunogenic peptide binding.", "journal": "Nature", "date": "1990", "authors": "Roche PA, Cresswell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "2190094", "url": "https://glygen.org/publication/PubMed/2190094" } ] }, { "title": "Structural evidence for two isozymic forms and the carbohydrate attachment site of human gastric cathepsin E.", "journal": "Biochemical and biophysical research communications", "date": "1990", "authors": "Athauda SB, Matsuzaki O, Kageyama T, Takahashi K", "evidence": [ { "database": "UniProtKB", "id": "P14091", "url": "https://www.uniprot.org/uniprot/P14091" } ], "reference": [ { "type": "PubMed", "id": "2334440", "url": "https://glygen.org/publication/PubMed/2334440" } ] }, { "title": "Invariant chain trimers are sequestered in the rough endoplasmic reticulum in the absence of association with HLA class II antigens.", "journal": "The Journal of cell biology", "date": "1990", "authors": "Marks MS, Blum JS, Cresswell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "2391366", "url": "https://glygen.org/publication/PubMed/2391366" } ] }, { "title": "Cathepsin E promotes pulmonary emphysema via mitochondrial fission.", "journal": "The American journal of pathology", "date": "2014", "authors": "Zhang X, Shan P, Homer R, Zhang Y, Petrache I, Mannam P, Lee PJ", "evidence": [ { "database": "RefSeq", "id": "NP_001304260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304260" } ], "reference": [ { "type": "PubMed", "id": "25239563", "url": "https://glygen.org/publication/PubMed/25239563" } ] }, { "title": "High Expression of Cathepsin E in Tissues but Not Blood of Patients with Barrett's Esophagus and Adenocarcinoma.", "journal": "Annals of surgical oncology", "date": "2015", "authors": "Fisher OM, Levert-Mignon AJ, Lord SJ, Botelho NK, Freeman AK, Thomas ML, Falkenback D, Wettstein A, Whiteman DC, Bobryshev YV, Lord RV", "evidence": [ { "database": "RefSeq", "id": "NP_001304260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304260" } ], "reference": [ { "type": "PubMed", "id": "25348778", "url": "https://glygen.org/publication/PubMed/25348778" } ] }, { "title": "Human gastric cathepsin E. Predicted sequence, localization to chromosome 1, and sequence homology with other aspartic proteinases.", "journal": "J. Biol. Chem.", "date": "1989", "authors": "Azuma T, Pals G, Mohandas T K, Couvreur J M, Taggart R T", "evidence": [ { "database": "UniProtKB", "id": "P14091", "url": "https://www.uniprot.org/uniprot/P14091" } ], "reference": [ { "type": "PubMed", "id": "2674141", "url": "https://glygen.org/publication/PubMed/2674141" } ] }, { "title": "The Relationship between the Concentration of Cathepsin A, D, and E and the Concentration of Copper and Zinc, and the Size of the Aneurysmal Enlargement in the Wall of the Abdominal Aortic Aneurysm.", "journal": "Annals of vascular surgery", "date": "2019", "authors": "Kurianiuk A, Socha K, Gacko M, Blachnio-Zabielska A, Karwowska A", "evidence": [ { "database": "RefSeq", "id": "NP_001304260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304260" } ], "reference": [ { "type": "PubMed", "id": "30278264", "url": "https://glygen.org/publication/PubMed/30278264" } ] }, { "title": "Microglial cathepsin E plays a role in neuroinflammation and amyloid beta production in Alzheimer's disease.", "journal": "Aging cell", "date": "2022", "authors": "Xie Z, Meng J, Kong W, Wu Z, Lan F, Narengaowa, Hayashi Y, Yang Q, Bai Z, Nakanishi H, Qing H, Ni J", "evidence": [ { "database": "RefSeq", "id": "NP_001304260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304260" } ], "reference": [ { "type": "PubMed", "id": "35181976", "url": "https://glygen.org/publication/PubMed/35181976" } ] }, { "title": "Self-release of CLIP in peptide loading of HLA-DR molecules.", "journal": "Science (New York, N.Y.)", "date": "1995", "authors": "Kropshofer H, Vogt AB, Stern LJ, Hammerling GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "7481823", "url": "https://glygen.org/publication/PubMed/7481823" } ] }, { "title": "Structure-activity relationship of the leucine-based sorting motifs in the cytosolic tail of the major histocompatibility complex-associated invariant chain.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Motta A, Bremnes B, Morelli MA, Frank RW, Saviano G, Bakke O", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "7592972", "url": "https://glygen.org/publication/PubMed/7592972" } ] }, { "title": "A role for acidic residues in di-leucine motif-based targeting to the endocytic pathway.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Pond L, Kuhn LA, Teyton L, Schutze MP, Tainer JA, Jackson MR, Peterson PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "7650016", "url": "https://glygen.org/publication/PubMed/7650016" } ] }, { "title": "Structural features of the invariant chain fragment CLIP controlling rapid release from HLA-DR molecules and inhibition of peptide binding.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1995", "authors": "Kropshofer H, Vogt AB, Hammerling GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "7667286", "url": "https://glygen.org/publication/PubMed/7667286" } ] }, { "title": "Monomeric human cathepsin E.", "journal": "FEBS letters", "date": "1995", "authors": "Fowler SD, Kay J, Dunn BM, Tatnell PJ", "evidence": [ { "database": "UniProtKB", "id": "P14091", "url": "https://www.uniprot.org/uniprot/P14091" } ], "reference": [ { "type": "PubMed", "id": "7789521", "url": "https://glygen.org/publication/PubMed/7789521" } ] }, { "title": "Subcellular localization and targeting of cathepsin E.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Finley EM, Kornfeld S", "evidence": [ { "database": "UniProtKB", "id": "P14091", "url": "https://www.uniprot.org/uniprot/P14091" } ], "reference": [ { "type": "PubMed", "id": "7983070", "url": "https://glygen.org/publication/PubMed/7983070" } ] }, { "title": "Selective release of some invariant chain-derived peptides from HLA-DR1 molecules at endosomal pH.", "journal": "The Journal of experimental medicine", "date": "1994", "authors": "Urban RG, Chicz RM, Strominger JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8046351", "url": "https://glygen.org/publication/PubMed/8046351" } ] }, { "title": "Endosomal aspartic proteinases are required for invariant-chain processing.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Maric MA, Taylor MD, Blum JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8134367", "url": "https://glygen.org/publication/PubMed/8134367" } ] }, { "title": "Crystal structure of the human class II MHC protein HLA-DR1 complexed with an influenza virus peptide.", "journal": "Nature", "date": "1994", "authors": "Stern LJ, Brown JH, Jardetzky TS, Gorga JC, Urban RG, Strominger JL, Wiley DC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8145819", "url": "https://glygen.org/publication/PubMed/8145819" } ] }, { "title": "Class II histocompatibility molecules associate with calnexin during assembly in the endoplasmic reticulum.", "journal": "International immunology", "date": "1994", "authors": "Schreiber KL, Bell MP, Huntoon CJ, Rajagopalan S, Brenner MB, McKean DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8148318", "url": "https://glygen.org/publication/PubMed/8148318" } ] }, { "title": "A role for calnexin (IP90) in the assembly of class II MHC molecules.", "journal": "The EMBO journal", "date": "1994", "authors": "Anderson KS, Cresswell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8313912", "url": "https://glygen.org/publication/PubMed/8313912" } ] }, { "title": "Isolation and biochemical characterization of procathepsin E from human erythrocyte membranes.", "journal": "Archives of biochemistry and biophysics", "date": "1993", "authors": "Takeda-Ezaki M, Yamamoto K", "evidence": [ { "database": "UniProtKB", "id": "P14091", "url": "https://www.uniprot.org/uniprot/P14091" } ], "reference": [ { "type": "PubMed", "id": "8346912", "url": "https://glygen.org/publication/PubMed/8346912" } ] }, { "title": "Cell surface HLA-DR-invariant chain complexes are targeted to endosomes by rapid internalization.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1993", "authors": "Roche PA, Teletski CL, Stang E, Bakke O, Long EO", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8397411", "url": "https://glygen.org/publication/PubMed/8397411" } ] }, { "title": "The segment of invariant chain that is critical for association with major histocompatibility complex class II molecules contains the sequence of a peptide eluted from class II polypeptides.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1993", "authors": "Freisewinkel IM, Schenck K, Koch N", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8415765", "url": "https://glygen.org/publication/PubMed/8415765" } ] }, { "title": "B lymphocytes secrete antigen-presenting vesicles.", "journal": "The Journal of experimental medicine", "date": "1996", "authors": "Raposo G, Nijman HW, Stoorvogel W, Liejendekker R, Harding CV, Melief CJ, Geuze HJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8642258", "url": "https://glygen.org/publication/PubMed/8642258" } ] }, { "title": "Potential sites for processing of the human invariant chain by cathepsins D and E.", "journal": "Biochemical and biophysical research communications", "date": "1996", "authors": "Kageyama T, Yonezawa S, Ichinose M, Miki K, Moriyama A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8687433", "url": "https://glygen.org/publication/PubMed/8687433" } ] }, { "title": "Regulation of cathepsin E expression during human B cell differentiation in vitro.", "journal": "European journal of immunology", "date": "1996-08", "authors": "Sealy L, Mota F, Rayment N, Tatnell P, Kay J, Chain B", "evidence": [ { "database": "UniProtKB", "id": "P14091", "url": "https://www.uniprot.org/uniprot/P14091" } ], "reference": [ { "type": "PubMed", "id": "8765029", "url": "https://glygen.org/publication/PubMed/8765029" } ] }, { "title": "Enhanced dissociation of HLA-DR-bound peptides in the presence of HLA-DM.", "journal": "Science (New York, N.Y.)", "date": "1996", "authors": "Weber DA, Evavold BD, Jensen PE", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8849454", "url": "https://glygen.org/publication/PubMed/8849454" } ] }, { "title": "Direct vesicular transport of MHC class II molecules from lysosomal structures to the cell surface.", "journal": "The Journal of cell biology", "date": "1996", "authors": "Wubbolts R, Fernandez-Borja M, Oomen L, Verwoerd D, Janssen H, Calafat J, Tulp A, Dusseljee S, Neefjes J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8909537", "url": "https://glygen.org/publication/PubMed/8909537" } ] }, { "title": "Expression of major histocompatibility complex class II molecules in HeLa cells promotes the recruitment of AP-1 Golgi-specific assembly proteins on Golgi membranes.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Salamero J, Le Borgne R, Saudrais C, Goud B, Hoflack B", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8939989", "url": "https://glygen.org/publication/PubMed/8939989" } ] }, { "title": "Editing of the HLA-DR-peptide repertoire by HLA-DM.", "journal": "The EMBO journal", "date": "1996", "authors": "Kropshofer H, Vogt AB, Moldenhauer G, Hammer J, Blum JS, Hammerling GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8947036", "url": "https://glygen.org/publication/PubMed/8947036" } ] }, { "title": "HLA-DM acts as a molecular chaperone and rescues empty HLA-DR molecules at lysosomal pH.", "journal": "Immunity", "date": "1997", "authors": "Kropshofer H, Arndt SO, Moldenhauer G, Hammerling GJ, Vogt AB", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "9075930", "url": "https://glygen.org/publication/PubMed/9075930" } ] }, { "title": "Decreased endosomal delivery of major histocompatibility complex class II-invariant chain complexes in dynamin-deficient cells.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Wang K, Peterson PA, Karlsson L", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "9202021", "url": "https://glygen.org/publication/PubMed/9202021" } ] }, { "title": "Negative regulation by HLA-DO of MHC class II-restricted antigen processing.", "journal": "Science (New York, N.Y.)", "date": "1997", "authors": "Denzin LK, Sant'Angelo DB, Hammond C, Surman MJ, Cresswell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "9311912", "url": "https://glygen.org/publication/PubMed/9311912" } ] }, { "title": "Interaction of MHC class II molecules with the invariant chain: role of the invariant chain (81-90) region.", "journal": "The EMBO journal", "date": "1997", "authors": "Stumptner P, Benaroch P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "9312039", "url": "https://glygen.org/publication/PubMed/9312039" } ] }, { "title": "Medium chains of adaptor complexes AP-1 and AP-2 recognize leucine-based sorting signals from the invariant chain.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Rodionov DG, Bakke O", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "9497313", "url": "https://glygen.org/publication/PubMed/9497313" } ] }, { "title": "Cathepsins B and D are dispensable for major histocompatibility complex class II-mediated antigen presentation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Deussing J, Roth W, Saftig P, Peters C, Ploegh HL, Villadangos JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "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": "A role for HLA-DO as a co-chaperone of HLA-DM in peptide loading of MHC class II molecules.", "journal": "The EMBO journal", "date": "1998", "authors": "Kropshofer H, Vogt AB, Thery C, Armandola EA, Li BC, Moldenhauer G, Amigorena S, Hammerling GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "9606180", "url": "https://glygen.org/publication/PubMed/9606180" } ] } ], "pathway": [ { "id": "hsa:1510", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1510", "resource": "KEGG Pathway" }, { "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" } ], "orthologs": [ { "uniprot_canonical_ac": "P16228-1", "protein_name": "Cathepsin E", "gene_name": "Ctse", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MKPLFVLLLLLLLLDLAQAQGVLHRVPLRRHQSLRKKLRAQGQLSDFWRSHNLDMIEFSESCNVDKGINEPLINYLDMEYFGTVSIGSPSQNFTVIFDTGSSNLWVPSVYCTSPACKAHPVFHPSQSSTYMEVGNHFSIQYGTGSLTGIIGADQVSVEGLTVEGQQFGESVKEPGQTFVNAEFDGILGLGYPSLAVGGVTPVFDNMMAQNLVALPMFSVYLSSDPQGGSGSELTFGGYDPSHFSGSLNWIPVTKQGYWQIALDGIQVGDTVMFCSEGCQAIVDTGTSLITGPPKKIKQLQEAIGATPMDGEYAVDCATLNMMPNVTFLINGVSYTLSPTAYILPDLVDGMQFCGSGFQGLDIQPPAGPLWILGDVFIRKFYSVFDRGNNQVGLAPAVP", "length": 398 }, "evidence": [ { "id": "45933458", "url": "http://www.informatics.jax.org/homology/45933458", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P70269-1", "protein_name": "Cathepsin E", "gene_name": "Ctse", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MKPLLVLLLLLLLDLAQAQGALHRVPLRRHQSLRKKLRAQGQLSEFWRSHNLDMTRLSESCNVYSSVNEPLINYLDMEYFGTISIGTPPQNFTVIFDTGSSNLWVPSVYCTSPACKAHPVFHPSQSDTYTEVGNHFSIQYGTGSLTGIIGADQVSVEGLTVDGQQFGESVKEPGQTFVNAEFDGILGLGYPSLAAGGVTPVFDNMMAQNLVALPMFSVYLSSDPQGGSGSELTFGGYDPSHFSGSLNWIPVTKQAYWQIALDGIQVGDTVMFCSEGCQAIVDTGTSLITGPPDKIKQLQEAIGATPIDGEYAVDCATLDTMPNVTFLINEVSYTLNPTDYILPDLVEGMQFCGSGFQGLDIPPPAGPLWILGDVFIRQFYSVFDRGNNQVGLAPAVP", "length": 397 }, "evidence": [ { "id": "45933458", "url": "http://www.informatics.jax.org/homology/45933458", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P14091", "url": "https://www.uniprot.org/uniprot/P14091" } ], "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": "P14091", "url": "https://www.uniprot.org/uniprot/P14091" } ], "pmid": "" }, { "name": "protein autoprocessing", "id": "GO:0016540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016540", "evidence": [ { "database": "UniProtKB", "id": "P14091", "url": "https://www.uniprot.org/uniprot/P14091" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "aspartic-type endopeptidase activity", "id": "GO:0004190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004190", "evidence": [ { "database": "UniProtKB", "id": "P14091", "url": "https://www.uniprot.org/uniprot/P14091" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P14091", "url": "https://www.uniprot.org/uniprot/P14091" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "P14091", "url": "https://www.uniprot.org/uniprot/P14091" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "P14091", "url": "https://www.uniprot.org/uniprot/P14091" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P14091", "url": "https://www.uniprot.org/uniprot/P14091" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 90, "end_pos": 92, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Glycosylated. The nature of the carbohydrate chain varies between cell types. In fibroblasts, the proenzyme contains a high mannose-type oligosaccharide, while the mature enzyme contains a complex-type oligosaccharide. In erythrocyte membranes, both the proenzyme and mature enzyme contain a complex-type oligosaccharide.", "evidence": [ { "database": "UniProtKB", "id": "P14091", "url": "https://www.uniprot.org/uniprot/P14091" }, { "database": "PubMed", "id": "8346912", "url": "https://glygen.org/publication/PubMed/8346912" }, { "database": "PubMed", "id": "7983070", "url": "https://glygen.org/publication/PubMed/7983070" }, { "database": "PubMed", "id": "2334440", "url": "https://glygen.org/publication/PubMed/2334440" } ] } ], "interactions": [], "reactions": [ { "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" } ] } ], "reaction_participants": [ { "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": "" } ] } ], "reaction_enzymes": [ { "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": "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": "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": "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" } ], "sequence_features": { "n_linked_sites": [ 90 ], "o_linked_sites": [], "snv_sites": [ 74, 84, 92, 141, 237, 301, 318, 320, 322 ], "glycation_sites": [], "phosphorylation_sites": [ 136 ], "sequon_annotation_sites": [ { "start_pos": 90, "end_pos": 92 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "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": 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_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": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "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_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": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 9 } ], "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": 10 }, { "field": "total_sites", "count": 9 } ], "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": 77 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }