{ "uniprot_canonical_ac": "P07998-1", "uniprot_ac": "P07998", "uniprot_id": "RNAS1_HUMAN", "mass": { "chemical_mass": 17644.0, "monoisotopic_mass": 17644.0 }, "refseq": { "ac": "NP_002924", "name": "ribonuclease pancreatic precursor", "summary": "This gene encodes a member of the pancreatic-type of secretory ribonucleases, a subset of the ribonuclease A superfamily. The encoded endonuclease cleaves internal phosphodiester RNA bonds on the 3'-side of pyrimidine bases. It prefers poly(C) as a substrate and hydrolyzes 2',3'-cyclic nucleotides, with a pH optimum near 8.0. The encoded protein is monomeric and more commonly acts to degrade ds-RNA over ss-RNA. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002924" }, "gene_names": [ { "name": "RNASE1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P07998", "id": "P07998" }, { "name": "RAC1; RIB1; RNS1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002924", "id": "NP_002924" }, { "name": "RIB1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07998", "id": "P07998" }, { "name": "RNASE1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002924", "id": "NP_002924" }, { "name": "RNS1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07998", "id": "P07998" } ], "protein_names": [ { "name": "Ribonuclease pancreatic", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P07998" }, { "name": "4.6.1.18", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07998" }, { "name": "HP-RNase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07998" }, { "name": "RIB-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07998" }, { "name": "RNase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07998" }, { "name": "RNase A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07998" }, { "name": "RNase UpI-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07998" }, { "name": "RNase upI-1; RIB-1; RNase 1; RNase A; HP-RNase; ribonuclease 1; ribonuclease A C1; ribonuclease, RNase A family, 1 (pancreatic)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002924", "id": "NP_002924" }, { "name": "Ribonuclease 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07998" }, { "name": "Ribonuclease A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07998" }, { "name": "ribonuclease pancreatic precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002924", "id": "NP_002924" } ], "function": [ { "annotation": "Chromatin immunoprecipitation kinetics revealed that HDAC2 accumulates at the RNASE1 promoter upon TNF-alpha stimulation, indicating an essential role for HDAC2 in regulating RNase1 expression. Thus, proinflammatory stimulation induced recruitment of HDAC2 to attenuate histone acetylation at the RNASE1 promoter site.", "evidence": [ { "database": "RefSeq", "id": "NP_002924", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002924" }, { "database": "PubMed", "id": "31039328", "url": "https://glygen.org/publication/PubMed/31039328" } ] }, { "annotation": "Endonuclease that catalyzes the cleavage of RNA on the 3' side of pyrimidine nucleotides. Acts on single-stranded and double-stranded RNA.", "evidence": [ { "database": "UniProtKB", "id": "P07998", "url": "https://www.uniprot.org/uniprot/P07998#function" }, { "database": "PubMed", "id": "17350650", "url": "https://glygen.org/publication/PubMed/17350650" } ] }, { "annotation": "Human ribonuclease 1 serves as a secretory ligand of ephrin A4 receptor and induces breast tumor initiation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002924", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002924" }, { "database": "PubMed", "id": "33986289", "url": "https://glygen.org/publication/PubMed/33986289" } ] }, { "annotation": "Processing by RNase 1 forms tRNA halves and distinct Y RNA fragments in the extracellular environment.", "evidence": [ { "database": "RefSeq", "id": "NP_002924", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002924" }, { "database": "PubMed", "id": "32609822", "url": "https://glygen.org/publication/PubMed/32609822" } ] }, { "annotation": "This gene encodes a member of the pancreatic-type of secretory ribonucleases, a subset of the ribonuclease A superfamily. The encoded endonuclease cleaves internal phosphodiester RNA bonds on the 3'-side of pyrimidine bases. It prefers poly(C) as a substrate and hydrolyzes 2',3'-cyclic nucleotides, with a pH optimum near 8.0. The encoded protein is monomeric and more commonly acts to degrade ds-RNA over ss-RNA. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_002924", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002924" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1292014679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1292014679" }, { "id": "rs1292014679", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1292014679" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 103, "end_pos": 103, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SNS->NNS).", "chr_id": "14", "chr_pos": "20801761", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S103", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1326007006", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1326007006" }, { "id": "rs1326007006", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1326007006" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 104, "end_pos": 104, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->DSS).", "chr_id": "14", "chr_pos": "20801759", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N104", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1347656332", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1347656332" }, { "id": "rs1347656332", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1347656332#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 104, "end_pos": 104, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->ISS).", "chr_id": "14", "chr_pos": "20801758", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N104", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766003086", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766003086" }, { "id": "rs766003086", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766003086" }, { "id": "rs766003086", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766003086" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 105, "end_pos": 105, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->NPS).", "chr_id": "14", "chr_pos": "20801756", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S105", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1166953782", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1166953782" }, { "id": "rs1166953782", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1166953782" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 106, "end_pos": 106, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->NSC).", "chr_id": "14", "chr_pos": "20801753", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S106", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1279939847", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1279939847" }, { "id": "rs1279939847", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1279939847#frequency_tab" }, { "id": "rs1279939847", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1279939847" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 116, "end_pos": 116, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->IGS).", "chr_id": "14", "chr_pos": "20801722", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N116", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs150792279", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150792279" }, { "id": "rs150792279", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150792279" }, { "id": "rs150792279", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150792279" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 29, "end_pos": 29, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KES->NES).", "chr_id": "14", "chr_pos": "20801982", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K29", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777556230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777556230" }, { "id": "rs777556230", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777556230" }, { "id": "rs777556230", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777556230#frequency_tab" }, { "id": "rs777556230", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777556230" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 64, "end_pos": 64, "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NMT->NMI).", "chr_id": "14", "chr_pos": "20801878", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T64", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs11545379", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs11545379" }, { "id": "rs11545379", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs11545379" }, { "id": "rs11545379", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs11545379#frequency_tab" }, { "id": "rs11545379", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs11545379" }, { "id": "rs370850841", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370850841" }, { "id": "rs370850841", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370850841" }, { "id": "rs370850841", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370850841#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 90, "end_pos": 90, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KVT->NVT).", "chr_id": "14", "chr_pos": "20801679", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K90", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 116, "end_pos": 116, "sequence_org": "N", "sequence_mut": "A", "comment": "Substantially decreases binding affinity for RNH1 but maintains high conformational stability; when associated with D-67, D-95, D-117 and D-119.", "evidence": [ { "database": "UniProtKB", "id": "P07998", "url": "https://www.uniprot.org/uniprot/P07998" }, { "database": "PubMed", "id": "17350650", "url": "https://glygen.org/publication/PubMed/17350650" } ] }, { "start_pos": 116, "end_pos": 117, "sequence_org": "NG", "sequence_mut": "RS", "comment": "No effect on inhibition by RNH1.", "evidence": [ { "database": "UniProtKB", "id": "P07998", "url": "https://www.uniprot.org/uniprot/P07998" }, { "database": "PubMed", "id": "11021969", "url": "https://glygen.org/publication/PubMed/11021969" } ] }, { "start_pos": 117, "end_pos": 117, "sequence_org": "G", "sequence_mut": "D", "comment": "Substantially decreases binding affinity for RNH1 but maintains high conformational stability; when associated with D-67, D-95, A-116 and D-119.", "evidence": [ { "database": "UniProtKB", "id": "P07998", "url": "https://www.uniprot.org/uniprot/P07998" }, { "database": "PubMed", "id": "17350650", "url": "https://glygen.org/publication/PubMed/17350650" } ] }, { "start_pos": 119, "end_pos": 119, "sequence_org": "R", "sequence_mut": "D", "comment": "Substantially decreases binding affinity for RNH1 but maintains high conformational stability; when associated with D-67, D-95, A-116 and D-117.", "evidence": [ { "database": "UniProtKB", "id": "P07998", "url": "https://www.uniprot.org/uniprot/P07998" }, { "database": "PubMed", "id": "17350650", "url": "https://glygen.org/publication/PubMed/17350650" } ] }, { "start_pos": 67, "end_pos": 67, "sequence_org": "R", "sequence_mut": "D", "comment": "Substantially decreases binding affinity for RNH1 but maintains high conformational stability; when associated with D-95, A-116, D-117 and D-119.", "evidence": [ { "database": "UniProtKB", "id": "P07998", "url": "https://www.uniprot.org/uniprot/P07998" }, { "database": "PubMed", "id": "17350650", "url": "https://glygen.org/publication/PubMed/17350650" } ] }, { "start_pos": 95, "end_pos": 95, "sequence_org": "N", "sequence_mut": "D", "comment": "Substantially decreases binding affinity for RNH1 but maintains high conformational stability; when associated with D-67, A-116, D-117 and D-119.", "evidence": [ { "database": "UniProtKB", "id": "P07998", "url": "https://www.uniprot.org/uniprot/P07998" }, { "database": "PubMed", "id": "17350650", "url": "https://glygen.org/publication/PubMed/17350650" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "96.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129538", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129538" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "95.51", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129538", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129538" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "99.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129538", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129538" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "94.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129538", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129538" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129538", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129538" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "99.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129538", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129538" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "98.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129538", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129538" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "97.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129538", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129538" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "95.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129538", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129538" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "99.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129538", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129538" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "87.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129538", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129538" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "95.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129538", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129538" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "98.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129538", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129538" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P07998", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07998" } ], "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", 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"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, 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"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", 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"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": "P07998", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07998" } ], "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", 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"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 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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}, { "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": 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"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": "P07998", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07998" } ], "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", 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D", "date": "2001", "authors": "Pous J, Mallorqu\u00ed-Fern\u00e1ndez G, Peracaula R, Terzyan S S, Futami J, Tada H, Yamada H, Seno M, de Llorens R, Gomis-R\u00fcth F X, Coll M", "evidence": [ { "database": "UniProtKB", "id": "P07998", "url": "https://www.uniprot.org/uniprot/P07998" } ], "reference": [ { "type": "PubMed", "id": "11264578", "url": "https://glygen.org/publication/PubMed/11264578" } ] }, { "title": "The structure of an engineered domain-swapped ribonuclease dimer and its implications for the evolution of proteins toward oligomerization.", "journal": "Structure", "date": "2001", "authors": "Canals A, Pous J, Guasch A, Benito A, Rib\u00f3 M, Vilanova M, Coll M", "evidence": [ { "database": "UniProtKB", "id": "P07998", "url": "https://www.uniprot.org/uniprot/P07998" } ], "reference": [ { "type": "PubMed", "id": "11591351", "url": "https://glygen.org/publication/PubMed/11591351" } ] }, { "title": "Characterization of a unique nonsecretory ribonuclease from urine of pregnant women.", "journal": "J. Biochem.", "date": "1992", "authors": "Sakakibara R, Hashida K, Kitahara T, Ishiguro M", "evidence": [ { "database": "UniProtKB", "id": "P07998", "url": "https://www.uniprot.org/uniprot/P07998" } ], "reference": [ { "type": "PubMed", "id": "1587793", "url": "https://glygen.org/publication/PubMed/1587793" } ] }, { "title": "Duplication and divergence of two distinct pancreatic ribonuclease genes in leaf-eating African and Asian colobine monkeys.", "journal": "Mol. Biol. 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Khim.", "date": "1995", "authors": "Kochetov A V, Lukasheva V V, Filipenko M L, Mertvetsov N P, Rivkin M I", "evidence": [ { "database": "UniProtKB", "id": "P07998", "url": "https://www.uniprot.org/uniprot/P07998" } ], "reference": [ { "type": "PubMed", "id": "8588814", "url": "https://glygen.org/publication/PubMed/8588814" } ] }, { "title": "A receptor for the selective uptake and degradation of proteins by lysosomes.", "journal": "Science (New York, N.Y.)", "date": "1996", "authors": "Cuervo AM, Dice JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-9613829", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9613829" } ], "reference": [ { "type": "PubMed", "id": "8662539", "url": "https://glygen.org/publication/PubMed/8662539" } ] }, { "title": "A population of rat liver lysosomes responsible for the selective uptake and degradation of cytosolic proteins.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Cuervo AM, Dice JF, Knecht E", 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Heat shock cognate 71 kDa protein (HSPA8) acts as the constitutive chaperone that binds substrate proteins in the cytosol. HSPA8 recognizes a motif based on the charge of the amino acids (Chiang H et al. 1989, Dice JF et al. 1990). This allows the motif to have multiple sequence possibilities and also create a motif through post-translational modifications such as phosphorylation and acetylation. Once bound with HSPA8, the substrates are targeted to the lysosome or endosome.", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11142-1", "Q99497-1", "Q9UBN7-1", "P07998-1", "P13569-1" ], "evidence": [ { "id": "R-HSA-9615721", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9615721" } ] }, { "id": "R-HSA-9620197", "name": "HSPA8:Substrate binds LAMP2a", "equation": "", "summary": "Intracellular proteins are targeted for proteolytic degradation in lysosome with the aid of chaperones. Heat shock cognate 71 kDa protein (HSPA8) acts as the constitutive chaperone that binds substrates in the cytosol. Consequently, the Hspa8:Substrate complex translocates from cytosol to lysosomal membrane where it binds to Lysosome-associated membrane glycoprotein 2 (LAMP2a) (Cuervo AM and Dice JF. 1996). Four positively charged amino acids in the cytosolic tail of the LAMP2a isoform is known to regulate the binding mechanism (Cuervo AM and Dice JF. 2000). Experiments confirming this binding were performed on rat models.", "cellular_location": "cytosol, lysosomal membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11142-1", "Q99497-1", "Q9UBN7-1", "P07998-1", "P13569-1" ], "evidence": [ { "id": "R-HSA-9620197", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9620197" } ] }, { "id": "R-HSA-9622831", "name": "Substrate:LAMP2a binds HSP90", "equation": "", "summary": "Heat shock cognate 71 kDa protein (HSPA8) translocates substrates from cytosol to lysosomal membrane where it binds to Lysosome-associated membrane glycoprotein 2 (LAMP2a). HSPA8 is then released from this complex. Subsequently, Heat shock protein HSP 90 binds to the lysosomal luminal end of LAMP2a (Bandyopadhyay U et al. 2008). This facilitates the multimerization of LAMP2a and internalization of substrate into the lumen. Experiments confirming this binding were performed on rat models.", "cellular_location": "lysosomal membrane, lysosomal lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P07900-1", "Q99497-1", "Q9UBN7-1", "P07998-1", "P13569-1" ], "evidence": [ { "id": "R-HSA-9622831", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9622831" } ] }, { "id": "R-HSA-9622840", "name": "HSPA8 dissociates from LAMP2A-bound substrate", "equation": "", "summary": "Intracellular proteins are targeted for proteolytic degradation in lysosome with the aid of chaperones. Heat shock cognate 71 kDa protein (HSPA8) acts as the constitutive chaperone that binds KFERQ-domain containing substrates in the cytosol. Consequently, the Hspa8:Substrate complex translocates from the cytosol to the lysosomal membrane where it binds to Lysosome-associated membrane glycoprotein 2 (LAMP2a). Post-binding, HSPA8 is released from the complex to allow multimerization of LAMP2a and internalization of the substrate (Bandyopadhyay U et al. 2008). Experiments confirming this binding were performed on rat models.", "cellular_location": "cytosol, lysosomal membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11142-1", "Q99497-1", "Q9UBN7-1", "P07998-1", "P13569-1" ], "evidence": [ { "id": "R-HSA-9622840", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9622840" } ] }, { "id": "R-HSA-9624158", "name": "Substrate:LAMP2a:HSP90 polymerizes", "equation": "", "summary": "Intracellular proteins are targeted for proteolytic degradation in the lysosome with the aid of chaperones. Heat shock cognate 71 kDa protein (HSPA8) acts as the constitutive chaperone that binds KFERQ-domain containing substrates in the cytosol. Consequently, the Hspa8:Substrate complex translocates from cytosol to lysosomal membrane where it binds to Lysosome-associated membrane glycoprotein 2 (LAMP2a). Subsequently, HSPA8 is released and Heat shock protein HSP 90 binds to the lysosomal luminal end of LAMP2a. Binding of HSP90 stabilizes LAMP2 to multimerize into a 700 kDa complex (Bandyopadhyay U et al. 2008). This facilitates the internalization of substrate into the lumen. Experiments confirming this binding were performed on rat models.", "cellular_location": "lysosomal membrane, lysosomal lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P07900-1", "Q99497-1", "Q9UBN7-1", "P07998-1", "P13569-1" ], "evidence": [ { "id": "R-HSA-9624158", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9624158" } ] }, { "id": "R-HSA-9625188", "name": "HSPA8 transports unfolded substrate to lysosomal lumen for degradation", "equation": "", "summary": "Heat shock cognate 71 kDa protein (HSPA8) translocates substrates from the cytosol to the lysosomal membrane. Subsequently, the substrate unfolds and binds to HSPA8 in the lysosomal lumen. HSPA8 facilitates the transport of the unfolded substrate to the lumen where it is then degraded (Agarraberes FA et al. 1997, Cuervo AM et al. 1997).", "cellular_location": "lysosomal membrane, lysosomal lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11142-1", "P07900-1", "Q99497-1", "Q9UBN7-1", "P07998-1", "P13569-1" ], "evidence": [ { "id": "R-HSA-9625188", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9625188" } ] }, { "id": "R-HSA-9625196", "name": "Unfolded substrate in LAMP2a multimeric complex binds HSPA8", "equation": "", "summary": "Intracellular proteins are targeted for proteolytic degradation in the lysosome with the aid of chaperones. Heat shock cognate 71 kDa protein (HSPA8) acts as the constitutive chaperone that binds a KFERQ-domain containing substrate in the cytosol and translocates to lysosomal membrane where it binds to Lysosome-associated membrane glycoprotein 2 (LAMP2a). Subsequently, Hspa8 is released and Heat shock protein HSP90 binds to the lysosomal luminal end of LAMP2a. The LAMP2a complex then multimerizes and stabilizes. Now, the substrate unfolds and binds to HSPA8 in the lysosomal lumen (Agarraberes FA et al. 1997, Cuervo AM et al. 1997). Subsequently, the substrate is internalized and degraded in the lumen. Experiments confirming this interaction were performed in rats.", "cellular_location": "lysosomal membrane, lysosomal lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11142-1", "P07900-1", "Q99497-1", "Q9UBN7-1", "P07998-1", "P13569-1" ], "evidence": [ { "id": "R-HSA-9625196", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9625196" } ] }, { "id": "R-HSA-9625197", "name": "GFAP binds LAMP2a multimer", "equation": "", "summary": "Intracellular proteins are targeted for proteolytic degradation in the lysosome with the aid of chaperones. Heat shock cognate 71 kDa protein (HSPA8) acts as the constitutive chaperone that binds KFERQ-domain containing substrates in the cytosol. Consequently, the HSPA8:Substrate complex translocates from cytosol to lysosomal membrane where it binds to Lysosome-associated membrane glycoprotein 2 (LAMP2a). Subsequently, HSPA8 is released and Heat shock protein HSP 90 binds to the lysosomal luminal end of LAMP2a. This LAMP2a complex then multimerizes into a 700 kDa entity and is stabilized by the binding of Glial fibrillary acidic protein (GFAP) (Bandyopadhyay U et al. 2010). Subsequently, the substrate is unfolded and internalized into the lumen. Experiments confirming this binding were performed on rat models.", "cellular_location": "lysosomal membrane, lysosomal lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P07900-1", "Q99497-1", "Q9UBN7-1", "P07998-1", "P13569-1" ], "evidence": [ { "id": "R-HSA-9625197", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9625197" } ] }, { "id": "R-HSA-9626060", "name": "HSPA8:Substrate dissociates from LAMP2a multimer", "equation": "", "summary": "Heat shock cognate 71 kDa protein (HSPA8) translocates substrates from the cytosol to the lysosomal membrane where it binds to Lysosome-associated membrane glycoprotein 2 (LAMP2a). The LAMP2a complex then multimerizes and stabilizes. Subsequently, the substrate unfolds and translocates to the lumen. The substrate bound HSPA8 then dissociates from LAMP2a multimer (Agarraberes FA et al. 1997, Cuervo AM et al. 1997). The function of LAMP2a multimer is now complete and starts to disassemble.", "cellular_location": "lysosomal membrane, lysosomal lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11142-1", "P07900-1", "Q99497-1", "Q9UBN7-1", "P07998-1", "P13569-1" ], "evidence": [ { "id": "R-HSA-9626060", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9626060" } ] }, { "id": "R-HSA-9631065", "name": "Substrate translocates into late endosomal lumen", "equation": "", "summary": "In addition to bulk protein degradation, Microautophagy (MI) can also target KFERQ motif protein substrates similar to Chaperone Mediated Autophagy (CMA). However, MI is distinct from CMA in that it occurs during late endosomes/multivesicular bodies formation. Upon binding with Hspa8, substrates are transported from the cytosol to late endosomes. HSPA8 binds with the phospholipids on the late endosomal membrane. Subsequently, the substrate is transported into the lumen via endosomal sorting complexes required for transport (ESCRTI and ESCRTIII systems) (Sahu R et al. 2011). This event is represented as a black box since the precise molecular mechanism of the substrate transport into the endosomal lumen is unclear. Experiments confirming this event were performed in mouse.", "cellular_location": "cytosol, late endosome membrane, late endosome lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11142-1", "Q99497-1", "Q9UBN7-1", "P07998-1", "P13569-1" ], "evidence": [ { "id": "R-HSA-9631065", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9631065" } ] }, { "id": "R-HSA-9631068", "name": "HSPA8:substrate binds late endosomal phospholipids", "equation": "", "summary": "Microautophagy (MI) can target KFERQ motif containing protein substrates to endosomal degradation. Upon binding with HSPA8, substrates are transported from the cytosol to late endosomes. Here, HSPA8 binds with the phospholipids on the late endosomal membrane. This interaction facilitates the vesicle-mediated transport of HSPA8:substrate complex into the late endosomes for degradation (Sahu R et al. 2011). Experiments confirming this interaction were performed in mouse cells.", "cellular_location": "cytosol, late endosome membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11142-1", "Q99497-1", "Q9UBN7-1", "P07998-1", "P13569-1" ], "evidence": [ { "id": "R-HSA-9631068", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9631068" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "P07900", "gene_name": "HSP90AA1", "activity": [ { "ec_number": "3.6.4.10", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P07900", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07900" } ] }, { "ec_number": "3.6.4.10", "activity": "", "evidence": [ { "id": "P07900", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07900" } ] } ] }, { "uniprot_ac": "P07998", "gene_name": "RNASE1", "activity": [ { "ec_number": "4.6.1.18", "activity": "an [RNA] containing cytidine + H2O = an [RNA]-3'-cytidine-3'-phosphate + a 5'-hydroxy-ribonucleotide-3'-[RNA].", "evidence": [ { "id": "P07998", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07998" } ] }, { "ec_number": "4.6.1.18", "activity": "", "evidence": [ { "id": "P07998", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07998" } ] } ] }, { "uniprot_ac": "P11142", "gene_name": "HSPA8", "activity": [ { "ec_number": "3.6.4.10", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P11142", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11142" } ] }, { "ec_number": "3.6.4.10", "activity": "", "evidence": [ { "id": "P11142", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11142" } ] } ] }, { "uniprot_ac": "P13569", "gene_name": "CFTR", "activity": [ { "ec_number": "5.6.1.6", "activity": "ATP + H2O + closed Cl(-) channel = ADP + phosphate + open Cl(-) channel.", "evidence": [ { "id": "P13569", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13569" } ] }, { "ec_number": "5.6.1.6", "activity": "", "evidence": [ { "id": "P13569", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13569" } ] } ] }, { "uniprot_ac": "Q99497", "gene_name": "PARK7", "activity": [ { "ec_number": "3.5.1.124", "activity": "H2O + S-(1-hydroxy-2-oxopropyl)-L-cysteinyl-[protein] = H(+) + L-cysteinyl-[protein] + lactate.", "evidence": [ { "id": "Q99497", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99497" } ] }, { "ec_number": "3.5.1.124", "activity": "", "evidence": [ { "id": "Q99497", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99497" } ] }, { "ec_number": "3.1.2.-", "activity": "", "evidence": [ { "id": "Q99497", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99497" } ] }, { "ec_number": "3.5.1.-", "activity": "", "evidence": [ { "id": "Q99497", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99497" } ] } ] }, { "uniprot_ac": "Q9UBN7", "gene_name": "HDAC6", "activity": [ { "ec_number": "3.5.1.98", "activity": "H2O + N(6)-acetyl-L-lysyl-[histone] = acetate + L-lysyl-[histone].", "evidence": [ { "id": "Q9UBN7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UBN7" } ] }, { "ec_number": "3.5.1.98", "activity": "", "evidence": [ { "id": "Q9UBN7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UBN7" } ] }, { "ec_number": "3.5.1.-", "activity": "", "evidence": [ { "id": "Q9UBN7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UBN7" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 62, 104, 116 ], "o_linked_sites": [], "snv_sites": [ 29, 64, 90, 103, 104, 105, 106, 116 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 104, "end_pos": 106 }, { "start_pos": 116, "end_pos": 118 }, { "start_pos": 62, "end_pos": 64 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 3 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "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": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 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