{ "uniprot_canonical_ac": "O43847-1", "uniprot_ac": "O43847", "uniprot_id": "NRDC_HUMAN", "mass": { "chemical_mass": 131701.0, "monoisotopic_mass": 131701.0 }, "refseq": { "ac": "NP_001095132", "name": "nardilysin isoform b precursor", "summary": "This gene encodes a zinc-dependent endopeptidase that cleaves peptide substrates at the N-terminus of arginine residues in dibasic moieties and is a member of the peptidase M16 family. This protein interacts with heparin-binding EGF-like growth factor and plays a role in cell migration and proliferation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095132" }, "gene_names": [ { "name": "NRDC", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43847", "id": "O43847" }, { "name": "NRD1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43847", "id": "O43847" }, { "name": "NRDC", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095132", "id": "NP_001095132" }, { "name": "hCG_40292", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43847", "id": "O43847" }, { "name": "hNRD1; hNRD2; NRD1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095132", "id": "NP_001095132" } ], "protein_names": [ { "name": "Nardilysin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43847" }, { "name": "3.4.24.61", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43847" }, { "name": "N-arginine dibasic convertase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43847" }, { "name": "NRD convertase; nardilysin (N-arginine dibasic convertase)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095132", "id": "NP_001095132" }, { "name": "NRD convertase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43847" }, { "name": "NRD-C", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43847" }, { "name": "Nardilysin convertase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43847" }, { "name": "nardilysin isoform b precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095132", "id": "NP_001095132" } ], "function": [ { "annotation": "Altered Levels of Negative Costimulatory Molecule V-Set Domain-Containing T-Cell Activation Inhibitor-1 (VTCN1) and Metalloprotease Nardilysin (NRD1) are Associated with Generalized Active Vitiligo.", "evidence": [ { "database": "RefSeq", "id": "NP_001095132", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095132" }, { "database": "PubMed", "id": "35815687", "url": "https://glygen.org/publication/PubMed/35815687" } ] }, { "annotation": "Cleaves peptide substrates on the N-terminus of arginine residues in dibasic pairs. Is a critical activator of BACE1- and ADAM17-mediated pro-neuregulin ectodomain shedding, involved in the positive regulation of axonal maturation and myelination. Required for proper functioning of 2-oxoglutarate dehydrogenase (OGDH) (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O43847", "url": "https://www.uniprot.org/uniprot/O43847#function" }, { "database": "UniProtKB", "id": "Q8BHG1", "url": "https://www.uniprot.org/uniprot/Q8BHG1#function" } ] }, { "annotation": "Gene expression level of NRD1 is significantly higher in AD patients when compared to normal controls.", "evidence": [ { "database": "RefSeq", "id": "NP_001095132", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095132" }, { "database": "PubMed", "id": "26943237", "url": "https://glygen.org/publication/PubMed/26943237" } ] }, { "annotation": "Increased serum nardilysin at admission is associated with a higher risk of all-cause mortality for ST-elevation myocardial infarction patients.", "evidence": [ { "database": "RefSeq", "id": "NP_001095132", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095132" }, { "database": "PubMed", "id": "30536341", "url": "https://glygen.org/publication/PubMed/30536341" } ] }, { "annotation": "N-arginine dibasic convertase is a specific receptor for heparin-binding EGF-like growth factor (HB-EGF) that modulates HB-EGF-induced cell migration.", "evidence": [ { "database": "RefSeq", "id": "NP_001095132", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095132" }, { "database": "PubMed", "id": "11432822", "url": "https://glygen.org/publication/PubMed/11432822" } ] }, { "annotation": "NRDC expression was reduced in infarcted regions in autopsy samples from acute myocardial ischemia patients.", "evidence": [ { "database": "RefSeq", "id": "NP_001095132", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095132" }, { "database": "PubMed", "id": "28747015", "url": "https://glygen.org/publication/PubMed/28747015" } ] }, { "annotation": "The acidic stretch of nardilysin, expressed as a fusion protein with glutathione S-transferase and compared to the native enzyme with respect to spermine binding, functions as an autonomous domain.", "evidence": [ { "database": "RefSeq", "id": "NP_001095132", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095132" }, { "database": "PubMed", "id": "11478915", "url": "https://glygen.org/publication/PubMed/11478915" } ] }, { "annotation": "This gene encodes a zinc-dependent endopeptidase that cleaves peptide substrates at the N-terminus of arginine residues in dibasic moieties and is a member of the peptidase M16 family. This protein interacts with heparin-binding EGF-like growth factor and plays a role in cell migration and proliferation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001095132", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095132" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1557892377", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1557892377" }, { "id": "rs1557892377", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1557892377" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1098, "end_pos": 1098, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DGT->NGT).", "chr_id": "1", "chr_pos": "51789400", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1098", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759608832", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759608832" }, { "id": "rs759608832", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759608832" }, { "id": "rs759608832", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759608832" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 360, "end_pos": 360, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNI->NNT).", "chr_id": "1", "chr_pos": "51823744", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I360", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs150662786", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150662786" }, { "id": "rs150662786", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150662786" }, { "id": "rs150662786", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150662786#frequency_tab" }, { "id": "rs150662786", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150662786" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 56, "end_pos": 56, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKA->NKS).", "chr_id": "1", "chr_pos": "51878450", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A56", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1486777473", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1486777473" }, { "id": "rs1486777473", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1486777473#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 687, "end_pos": 687, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTP->NTS).", "chr_id": "1", "chr_pos": "51806845", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P687", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43847", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43847" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 914, "end_pos": 914, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NKG->NKS).", "chr_id": "1", "chr_pos": "51794507", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G914", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs150945886", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150945886" }, { "id": "rs150945886", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs150945886" }, { "id": "rs150945886", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150945886" }, { "id": "rs150945886", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150945886#frequency_tab" }, { "id": "rs150945886", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150945886" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 965, "end_pos": 965, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "1", "chr_pos": "51791645", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000998", "site_lbl": "T965", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "95.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000078618", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078618" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "94.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000078618", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078618" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "93.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000078618", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078618" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "84.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000078618", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078618" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "97.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000078618", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078618" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "97.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000078618", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078618" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "89.27", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000078618", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078618" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "95.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000078618", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078618" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "97.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000078618", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078618" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "91.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000078618", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078618" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "97.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000078618", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078618" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "98.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000078618", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078618" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "97.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000078618", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078618" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43847", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43847" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43847", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43847" } ], "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": "O43847", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43847" } ], "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 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"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": 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}, { "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": "O43847", "url": "https://www.uniprot.org/uniprot/O43847" } ], "common_name": "Human" } ], "gene": [ { "name": "NRDC", "url": "https://www.uniprot.org/uniprot/O43847", "locus": { "chromosome": "1", "start_pos": 51789191, "end_pos": 51878805, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000078618", "url": "https://www.ensembl.org/id/ENSG00000078618" } ] } } ], "crossref": [ { "id": "ENSG00000078618", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078618", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O43847", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43847", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "3.4.24.61", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=3.4.24.61&UniProtAcc=O43847", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "NRDC", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRDC", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "4898", "url": "https://www.ncbi.nlm.nih.gov/gene/4898", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "7995", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7995", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O43847", "url": "https://www.ebi.ac.uk/intact/interactors/id:O43847*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001431", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001431", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR007863", "url": "https://www.ebi.ac.uk/interpro/entry/IPR007863", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011249", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011249", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011765", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011765", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR032632", "url": "https://www.ebi.ac.uk/interpro/entry/IPR032632", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:4898", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4898", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "602651", "url": "http://www.omim.org/entry/602651", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O43847", "url": "https://www.nextprot.org/entry/NX_O43847", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O43847", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43847", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "INQVMEH", "url": "https://omabrowser.org/oma/group/INQVMEH/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "129328at2759", "url": "http://www.orthodb.org/?query=129328at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR43690", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43690", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR43690:SF18", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43690:SF18", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00675", "url": "http://pfam.xfam.org/family/PF00675", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF05193", "url": "http://pfam.xfam.org/family/PF05193", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16187", "url": "http://pfam.xfam.org/family/PF16187", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43847", "url": "https://pharos.nih.gov/targets/O43847", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43847", "url": "http://purl.obolibrary.org/obo/PR_O43847", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001095132", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095132", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "G3V1R5", "url": "https://www.uniprot.org/uniprot/G3V1R5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V1R5-1", "url": "https://www.uniprot.org/uniprot/G3V1R5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y5G9", "url": "https://www.uniprot.org/uniprot/H0Y5G9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y5G9-1", "url": "https://www.uniprot.org/uniprot/H0Y5G9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43847", "url": "https://www.uniprot.org/uniprot/O43847", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43847-1", "url": "https://www.uniprot.org/uniprot/O43847-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43847-2", "url": "https://www.uniprot.org/uniprot/O43847-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLRRVTVAAVCATRRKLCEAGRELAALWGIETRGRCEDSAAARPFPILAMPGRNKAKSTCSCPDLQPNGQDLGENSRVARLGADESEEEGRRGSLSNAGDPEIVKSPSDPKQYRYIKLQNGLQALLISDLSNMEGKTGNTTDDEEEEEVEEEEEDDDEDSGAEIEDDDEEGFDDEDEFDDEHDDDLDTEDNELEELEERAEARKKTTEKQSAAALCVGVGSFADPDDLPGLAHFLEHMVFMGSLKYPDENGFDAFLKKHGGSDNASTDCERTVFQFDVQRKYFKEALDRWAQFFIHPLMIRDAIDREVEAVDSEYQLARPSDANRKEMLFGSLARPGHPMGKFFWGNAETLKHEPRKNNIDTHARLREFWMRYYSSHYMTLVVQSKETLDTLEKWVTEIFSQIPNNGLPRPNFGHLTDPFDTPAFNKLYRVVPIRKIHALTITWALPPQQQHYRVKPLHYISWLVGHEGKGSILSFLRKKCWALALFGGNGETGFEQNSTYSVFSISITLTDEGYEHFYEVAYTVFQYLKMLQKLGPEKRIFEEIRKIEDNEFHYQEQTDPVEYVENMCENMQLYPLQDILTGDQLLFEYKPEVIGEALNQLVPQKANLVLLSGANEGKCDLKEKWFGTQYSIEDIENSWAELWNSNFELNPDLHLPAENKYIATDFTLKAFDCPETEYPVKIVNTPQGCLWYKKDNKFKIPKAYIRFHLISPLIQKSAANVVLFDIFVNILTHNLAEPAYEADVAQLEYKLVAGEHGLIIRVKGFNHKLPLLFQLIIDYLAEFNSTPAVFTMITEQLKKTYFNILIKPETLAKDVRLLILEYARWSMIDKYQALMDGLSLESLLSFVKEFKSQLFVEGLVQGNVTSTESMDFLKYVVDKLNFKPLEQEMPVQFQVVELPSGHHLCKVKALNKGDANSEVTVYYQSGTRSLREYTLMELLVMHMEEPCFDFLRTKQTLGYHVYPTCRNTSGILGFSVTVGTQATKYNSEVVDKKIEEFLSSFEEKIENLTEEAFNTQVTALIKLKECEDTHLGEEVDRNWNEVVTQQYLFDRLAHEIEALKSFSKSDLVNWFKAHRGPGSKMLSVHVVGYGKYELEEDGTPSSEDSNSSCEVMQLTYLPTSPLLADCIIPITDIRAFTTTLNLLPYHKIVK", "length": 1151, "header": "sp|O43847-1|NRDC_HUMAN Isoform 1 of Nardilysin OS=Homo sapiens OX=9606 GN=NRDC PE=1 SV=3 CANONICAL=O43847-1" }, "isoforms": [ { "isoform_ac": "G3V1R5-1", "url": "", "sequence": { "sequence": "MEGKTGNTTDDEEEEEVEEEEEDDDEDSGAEIEDDDEEGFDDEDEFDDEHDDDLDTEDNELEELEERAEARKKTTEKQQLQSLFLLWSKLTDRLWFKSTYSKMSSTLLVETRNLYGVVGAESRSAPVQHLAGWQAEEQQGETDTVLSAAALCVGVGSFADPDDLPGLAHFLEHMVFMGSLKYPDENGFDAFLKKHGGSDNASTDCERTVFQFDVQRKYFKEALDRWAQFFIHPLMIRDAIDREVEAVDSEYQLARPSDANRKEMLFGSLARPGHPMGKFFWGNAETLKHEPRKNNIDTHARLREFWMRYYSSHYMTLVVQSKETLDTLEKWVTEIFSQIPNNGLPRPNFGHLTDPFDTPAFNKLYRVVPIRKIHALTITWALPPQQQHYRVKPLHYISWLVGHEGKGSILSFLRKKCWALALFGGNGETGFEQNSTYSVFSISITLTDEGYEHFYEVAYTVFQYLKMLQKLGPEKRIFEEIRKIEDNEFHYQEQTDPVEYVENMCENMQLYPLQDILTGDQLLFEYKPEVIGEALNQLVPQKANLVLLSGANEGKCDLKEKWFGTQYSIEDIENSWAELWNSNFELNPDLHLPAENKYIATDFTLKAFDCPETEYPVKIVNTPQGCLWYKKDNKFKIPKAYIRFHLISPLIQKSAANVVLFDIFVNILTHNLAEPAYEADVAQLEYKLVAGEHGLIIRVKGFNHKLPLLFQLIIDYLAEFNSTPAVFTMITEQLKKTYFNILIKPETLAKDVRLLILEYARWSMIDKYQALMDGLSLESLLSFVKEFKSQLFVEGLVQGNVTSTESMDFLKYVVDKLNFKPLEQEMPVQFQVVELPSGHHLCKVKALNKGDANSEVTVYYQSGTRSLREYTLMELLVMHMEEPCFDFLRTKQTLGYHVYPTCRNTSGILGFSVTVGTQATKYNSEVVDKKIEEFLSSFEEKIENLTEEAFNTQVTALIKLKECEDTHLGEEVDRNWNEVVTQQYLFDRLAHEIEALKSFSKSDLVNWFKAHRGPGSKMLSVHVVGYGKYELEEDGTPSSEDSNSSCEVMQLTYLPTSPLLADCIIPITDIRAFTTTLNLLPYHKIVK", "length": 1087, "header": "tr|G3V1R5-1|G3V1R5_HUMAN Computationally mapped isoform of Nardilysin (N-arginine dibasic convertase), isoform CRA_e OS=Homo sapiens OX=9606 GN=NRDC PE=1 SV=1 CANONICAL=O43847-1" }, "locus": { "chromosome": "1", "start_pos": 51840459, "end_pos": 51789239, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000539524.5", "url": "https://www.ensembl.org/id/ENST00000539524.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000444416.1", "url": "https://www.ensembl.org/id/ENSP00000444416.1" } ] } }, { "isoform_ac": "H0Y5G9-1", "url": "", "sequence": { "sequence": "XKIEDNEFHYQEQTDPVEYVENMCENMQLYPLQDILTGDQLLFEYKPEVIGEALNQLVPQKANLVLLSGANEGKCDLKEKWFGTQYSIEDIENSWAELWNSNFELNPDLHLPAENKYIAYIRFHLISPLIQKSAANVVLFDIFVNILTHNLAEPAYEADVAQLEYKLVAGEHGLIIRVKGFNHKLPLLFQLIIDYLAEFNSTPAVFTMITEQLKKTYFNILIKPETLAKDVRLLILEYARWSMIDKYQALMDGLSLESLLSFVKEFKSQLFVEGLVQGNVTSTESMDFLKYVVDKLNFKPLEQEMPVQFQVVELPSGHHLCKVKALNKGDANSEVTVYYQSGTRSLREYTLMELLVMHMEEPCFDFLRTKQTLGSEVVDKKIEEFLSSFEEKIENLTEEAFNTQVTALIKLKECEDTHLGEEVDRNWNEVVTQQYLFDRLAHEIEALKSFSKSDLVNWFKAHRGPGSKMLSVHVVGYGKYELEEDGTPSSEDSNSSCEVMQLTYLPTSPLLADCIIPITDIRAFTTTLNLLPYHKIVK", "length": 538, "header": "tr|H0Y5G9-1|NRDC_HUMAN Computationally mapped isoform of Nardilysin OS=Homo sapiens OX=9606 GN=NRDC PE=1 SV=1 CANONICAL=O43847-1" }, "locus": { "chromosome": "1", "start_pos": 51814071, "end_pos": 51789237, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000440943.5", "url": "https://www.ensembl.org/id/ENST00000440943.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000398464.1", "url": "https://www.ensembl.org/id/ENSP00000398464.1" } ] } }, { "isoform_ac": "O43847-1", "url": "", "sequence": { "sequence": "MLRRVTVAAVCATRRKLCEAGRELAALWGIETRGRCEDSAAARPFPILAMPGRNKAKSTCSCPDLQPNGQDLGENSRVARLGADESEEEGRRGSLSNAGDPEIVKSPSDPKQYRYIKLQNGLQALLISDLSNMEGKTGNTTDDEEEEEVEEEEEDDDEDSGAEIEDDDEEGFDDEDEFDDEHDDDLDTEDNELEELEERAEARKKTTEKQSAAALCVGVGSFADPDDLPGLAHFLEHMVFMGSLKYPDENGFDAFLKKHGGSDNASTDCERTVFQFDVQRKYFKEALDRWAQFFIHPLMIRDAIDREVEAVDSEYQLARPSDANRKEMLFGSLARPGHPMGKFFWGNAETLKHEPRKNNIDTHARLREFWMRYYSSHYMTLVVQSKETLDTLEKWVTEIFSQIPNNGLPRPNFGHLTDPFDTPAFNKLYRVVPIRKIHALTITWALPPQQQHYRVKPLHYISWLVGHEGKGSILSFLRKKCWALALFGGNGETGFEQNSTYSVFSISITLTDEGYEHFYEVAYTVFQYLKMLQKLGPEKRIFEEIRKIEDNEFHYQEQTDPVEYVENMCENMQLYPLQDILTGDQLLFEYKPEVIGEALNQLVPQKANLVLLSGANEGKCDLKEKWFGTQYSIEDIENSWAELWNSNFELNPDLHLPAENKYIATDFTLKAFDCPETEYPVKIVNTPQGCLWYKKDNKFKIPKAYIRFHLISPLIQKSAANVVLFDIFVNILTHNLAEPAYEADVAQLEYKLVAGEHGLIIRVKGFNHKLPLLFQLIIDYLAEFNSTPAVFTMITEQLKKTYFNILIKPETLAKDVRLLILEYARWSMIDKYQALMDGLSLESLLSFVKEFKSQLFVEGLVQGNVTSTESMDFLKYVVDKLNFKPLEQEMPVQFQVVELPSGHHLCKVKALNKGDANSEVTVYYQSGTRSLREYTLMELLVMHMEEPCFDFLRTKQTLGYHVYPTCRNTSGILGFSVTVGTQATKYNSEVVDKKIEEFLSSFEEKIENLTEEAFNTQVTALIKLKECEDTHLGEEVDRNWNEVVTQQYLFDRLAHEIEALKSFSKSDLVNWFKAHRGPGSKMLSVHVVGYGKYELEEDGTPSSEDSNSSCEVMQLTYLPTSPLLADCIIPITDIRAFTTTLNLLPYHKIVK", "length": 1151, "header": "sp|O43847-1|NRDC_HUMAN Isoform 1 of Nardilysin OS=Homo sapiens OX=9606 GN=NRDC PE=1 SV=3 CANONICAL=O43847-1" }, "locus": { "chromosome": "1", "start_pos": 51878615, "end_pos": 51789239, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000352171.12", "url": "https://www.ensembl.org/id/ENST00000352171.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000262679.8", "url": "https://www.ensembl.org/id/ENSP00000262679.8" } ] } }, { "isoform_ac": "O43847-2", "url": "", "sequence": { "sequence": "MLRRVTVAAVCATRRKLCEAGRELAALWGIETRGRCEDSAAARPFPILAMPGRNKAKSTCSCPDLQPNGQDLGENSRVARLGADESEEEGRRGSLSNAGDPEIVKSPSDPKQYRYIKLQNGLQALLISDLSNMEGKTGNTTDDEEEEEVEEEEEDDDEDSGAEIEDDDEEGFDDEDEFDDEHDDDLDTEDNELEELEERAEARKKTTEKQQLQSLFLLWSKLTDRLWFKSTYSKMSSTLLVETRNLYGVVGAESRSAPVQHLAGWQAEEQQGETDTVLSAAALCVGVGSFADPDDLPGLAHFLEHMVFMGSLKYPDENGFDAFLKKHGGSDNASTDCERTVFQFDVQRKYFKEALDRWAQFFIHPLMIRDAIDREVEAVDSEYQLARPSDANRKEMLFGSLARPGHPMGKFFWGNAETLKHEPRKNNIDTHARLREFWMRYYSSHYMTLVVQSKETLDTLEKWVTEIFSQIPNNGLPRPNFGHLTDPFDTPAFNKLYRVVPIRKIHALTITWALPPQQQHYRVKPLHYISWLVGHEGKGSILSFLRKKCWALALFGGNGETGFEQNSTYSVFSISITLTDEGYEHFYEVAYTVFQYLKMLQKLGPEKRIFEEIRKIEDNEFHYQEQTDPVEYVENMCENMQLYPLQDILTGDQLLFEYKPEVIGEALNQLVPQKANLVLLSGANEGKCDLKEKWFGTQYSIEDIENSWAELWNSNFELNPDLHLPAENKYIATDFTLKAFDCPETEYPVKIVNTPQGCLWYKKDNKFKIPKAYIRFHLISPLIQKSAANVVLFDIFVNILTHNLAEPAYEADVAQLEYKLVAGEHGLIIRVKGFNHKLPLLFQLIIDYLAEFNSTPAVFTMITEQLKKTYFNILIKPETLAKDVRLLILEYARWSMIDKYQALMDGLSLESLLSFVKEFKSQLFVEGLVQGNVTSTESMDFLKYVVDKLNFKPLEQEMPVQFQVVELPSGHHLCKVKALNKGDANSEVTVYYQSGTRSLREYTLMELLVMHMEEPCFDFLRTKQTLGYHVYPTCRNTSGILGFSVTVGTQATKYNSEVVDKKIEEFLSSFEEKIENLTEEAFNTQVTALIKLKECEDTHLGEEVDRNWNEVVTQQYLFDRLAHEIEALKSFSKSDLVNWFKAHRGPGSKMLSVHVVGYGKYELEEDGTPSSEDSNSSCEVMQLTYLPTSPLLADCIIPITDIRAFTTTLNLLPYHKIVK", "length": 1219, "header": "sp|O43847-2|NRDC_HUMAN Isoform 2 of Nardilysin OS=Homo sapiens OX=9606 GN=NRDC PE=1 SV=3 CANONICAL=O43847-1" }, "locus": { "chromosome": "1", "start_pos": 51878615, "end_pos": 51789239, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000354831.11", "url": "https://www.ensembl.org/id/ENST00000354831.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000346890.7", "url": "https://www.ensembl.org/id/ENSP00000346890.7" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 965, "start_aa": "Thr", "end_pos": 965, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr965", "evidence": [ { "id": "O43847", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43847" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "phosphorylation": [ { "start_pos": 76, "end_pos": 76, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43847", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43847" }, { "database": "PubMed", "id": "27920218", "url": "" } ], "site_lbl": "Ser76" }, { "start_pos": 86, "end_pos": 86, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43847", "url": "https://www.uniprot.org/uniprot/O43847" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "phospho.ELM", "id": "O43847", "url": "http://phospho.elm.eu.org/byAccession/O43847.html" }, { "database": "iPTMnet", "id": "O43847", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43847" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser86" }, { "start_pos": 94, "end_pos": 94, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43847", "url": "https://www.uniprot.org/uniprot/O43847" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "phospho.ELM", "id": "O43847", "url": "http://phospho.elm.eu.org/byAccession/O43847.html" }, { "database": "iPTMnet", "id": "O43847", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43847" } ], "site_lbl": "Ser94" }, { "start_pos": 96, "end_pos": 96, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43847", "url": "https://www.uniprot.org/uniprot/O43847" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "phospho.ELM", "id": "O43847", "url": "http://phospho.elm.eu.org/byAccession/O43847.html" }, { "database": "iPTMnet", "id": "O43847", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43847" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser96" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Gene expression of the dibasic-pair cleaving enzyme NRD convertase (N-arginine dibasic convertase) is differentially regulated in the GH3 pituitary and Mat-Lu prostate cell lines.", "journal": "Biochem. J.", "date": "2000", "authors": "Winter A G, Pierotti A R", "evidence": [ { "database": "UniProtKB", "id": "O43847", "url": "https://www.uniprot.org/uniprot/O43847" } ], "reference": [ { "type": "PubMed", "id": "11042131", "url": "https://glygen.org/publication/PubMed/11042131" } ] }, { "title": "N-arginine dibasic convertase is a specific receptor for heparin-binding EGF-like growth factor that mediates cell migration.", "journal": "The EMBO journal", "date": "2001", "authors": "Nishi E, Prat A, Hospital V, Elenius K, Klagsbrun M", "evidence": [ { "database": "RefSeq", "id": "NP_001095132", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095132" } ], "reference": [ { "type": "PubMed", "id": "11432822", "url": "https://glygen.org/publication/PubMed/11432822" } ] }, { "title": "Expression of the acidic stretch of nardilysin as a functional binding domain.", "journal": "Biochemistry", "date": "2001", "authors": "Ma Z, Csuhai E, Chow KM, Hersh LB", "evidence": [ { "database": "RefSeq", "id": "NP_001095132", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095132" } ], "reference": [ { "type": "PubMed", "id": "11478915", "url": "https://glygen.org/publication/PubMed/11478915" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O43847", "url": "https://www.uniprot.org/uniprot/O43847" }, { "database": "iPTMnet", "id": "O43847", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43847" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "O43847", "url": "https://www.uniprot.org/uniprot/O43847" }, { "database": "iPTMnet", "id": "O43847", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43847" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O43847", "url": "https://www.uniprot.org/uniprot/O43847" }, { "database": "iPTMnet", "id": "O43847", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43847" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "O43847", "url": "https://www.uniprot.org/uniprot/O43847" }, { "database": "iPTMnet", "id": "O43847", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43847" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O43847", "url": "https://www.uniprot.org/uniprot/O43847" }, { "database": "iPTMnet", "id": "O43847", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43847" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Association of gene expression and methylation of UQCRC1 to the predisposition of Alzheimer's disease in a Chinese population.", "journal": "Journal of psychiatric research", "date": "2016", "authors": "Ma SL, Tang NL, Lam LC", "evidence": [ { "database": "RefSeq", "id": "NP_001095132", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095132" } ], "reference": [ { "type": "PubMed", "id": "26943237", "url": "https://glygen.org/publication/PubMed/26943237" } ] }, { "title": "Loss of Nardilysin, a Mitochondrial Co-chaperone for alpha-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration.", "journal": "Neuron", "date": "2017", "authors": "Yoon WH, Sandoval H, Nagarkar-Jaiswal S, Jaiswal M, Yamamoto S, Haelterman NA, Putluri N, Putluri V, Sreekumar A, Tos T, Aksoy A, Donti T, Graham BH, Ohno M, Nishi E, Hunter J, Muzny DM, Carmichael J, Shen J, Arboleda VA, Nelson SF, Wangler MF, Karaca E, Lupski JR, Bellen HJ", "evidence": [ { "database": "UniProtKB", "id": "O43847", "url": "https://www.uniprot.org/uniprot/O43847" } ], "reference": [ { "type": "PubMed", "id": "28017472", "url": "https://glygen.org/publication/PubMed/28017472" } ] }, { "title": "Nardilysin is a promising biomarker for the early diagnosis of acute coronary syndrome.", "journal": "International journal of cardiology", "date": "2017", "authors": "Chen PM, Ohno M, Hiwasa T, Nishi K, Saijo S, Sakamoto J, Morita Y, Matsuda S, Watanabe S, Kuwabara Y, Ono K, Imai M, Inoue K, Murai T, Inada T, Tanaka M, Kita T, Kimura T, Nishi E", "evidence": [ { "database": "RefSeq", "id": "NP_001095132", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095132" } ], "reference": [ { "type": "PubMed", "id": "28747015", "url": "https://glygen.org/publication/PubMed/28747015" } ] }, { "title": "Increased serum nardilysin is associated with worse long-term outcome of ST-elevation myocardial infarction.", "journal": "European review for medical and pharmacological sciences", "date": "2018", "authors": "Miao CQ, Lu Q, Liu P, Bai L, Qu H, Ma AQ", "evidence": [ { "database": "RefSeq", "id": "NP_001095132", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095132" } ], "reference": [ { "type": "PubMed", "id": "30536341", "url": "https://glygen.org/publication/PubMed/30536341" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43847", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43847" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Altered Levels of Negative Costimulatory Molecule V-Set Domain-Containing T-Cell Activation Inhibitor-1 (VTCN1) and Metalloprotease Nardilysin (NRD1) are Associated with Generalized Active Vitiligo.", "journal": "Immunological investigations", "date": "2022", "authors": "Vaishnav J, Jadeja SD, Singh M, Khan F, Yadav M, Begum R", "evidence": [ { "database": "RefSeq", "id": "NP_001095132", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095132" } ], "reference": [ { "type": "PubMed", "id": "35815687", "url": "https://glygen.org/publication/PubMed/35815687" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43847", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43847" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Human NRD convertase: a highly conserved metalloendopeptidase expressed at specific sites during development and in adult tissues.", "journal": "Genomics", "date": "1998", "authors": "Fumagalli P, Accarino M, Egeo A, Scartezzini P, Rappazzo G, Pizzuti A, Avvantaggiato V, Simeone A, Arrigo G, Zuffardi O, Ottolenghi S, Taramelli R", "evidence": [ { "database": "UniProtKB", "id": "O43847", "url": "https://www.uniprot.org/uniprot/O43847" } ], "reference": [ { "type": "PubMed", "id": "9479496", "url": "https://glygen.org/publication/PubMed/9479496" } ] }, { "title": "Human and rat testis express two mRNA species encoding variants of NRD convertase, a metalloendopeptidase of the insulinase family.", "journal": "Biochem. J.", "date": "1997", "authors": "Hospital V, Prat A, Joulie C, Ch\u00e9rif D, Day R, Cohen P", "evidence": [ { "database": "UniProtKB", "id": "O43847", "url": "https://www.uniprot.org/uniprot/O43847" } ], "reference": [ { "type": "PubMed", "id": "9581555", "url": "https://glygen.org/publication/PubMed/9581555" } ] } ], "pathway": [ { "id": "hsa:4898", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4898", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "P47245-1", "protein_name": "Nardilysin", "gene_name": "Nrdc", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MLRRVAVAAVFATGRKLRCEAGRDVTAVGRIEARGLCEESAKPFPTLTMPGRNKAKSTCSCPDLQPNGQDLGESGRVARLGADESEEEGRSLSNVGDPEIIKSPSDPKQYRYIKLQNGLQALLISDLSNVEGKTGNATDEEEEEEEEEEEGEEEEEEEEDDDDDDDEDSGAEIQDDDEEGFDDEEEFDDDEHDDDDLDNEENELEELEERVEARKKTTEKQSAAALCVGVGSFADPDDLPGLAHFLEHMVFMGSLKYPDENGFDAFLKKHGGSDNASTDCERTVFQFDVQRKYFKEALDRWAQFFIHPLMIRDAIDREVEAVDSEYQLARPSDANRKEMLFGSLARPGHPMGKFFWGNAETLKHEPKKNNIDTHARLREFWMRYYSAHYMTLVVQSKETLDTLEKWVTEIFSQIPNNGLPKPNFSHLTDPFDTPAFNKLYRVVPIRKIHALTITWALPPQQQHYRVKPLHYISWLVGHEGKGSILSYLRKKCWALALFGGNGETGFEQNSTYSVFSISITLTDEGYEHFYEVAHTVFQYLKMLQKLGPEKRVFEEIQKIEDNEFHYQEQTDPVEYVENMCENMQLYPRQDFLTGDQLLFEYKPEVIAEALNQLVPQKANLVLLSGANEGRCDLKEKWFGTQYSIEDIENSWTELWKSNFDLNSDLHLPAENKYIATDFTLKAFDCPETEYPAKIVNTPQGCLWYKKDNKFKIPKAYIRFHLISPLIQKSAANVVLFDIFVNILTHNLAEPAYEADVAQLEYKLVAGEHGLIIRVKGFNHKLPLLFQLIIDYLTEFSSTPAVFTMITEQLKKTYFNILIKPETLAKDVRLLILEYSRWSMIDKYRALMDGLSLESLLNFVKDFKSQLFVEGLVQGNVTSTESMDFLRYVVDKLNFVPLEREMPVQFQVVELPSGHHLCKVRALNKGDANSEVTVYYQSGTRSLREYTLMELLVMHMEEPCFDFLRTKQTLGYHVYPTCRNTSGILGFSVTVGTQATKYNSETVDKKIEEFLSSFEEKIENLTEDAFNTQVTALIKLKECEDTHLGEEVDRNWNEVVTQQYLFDRLAHEIEALKSFSKSDLVSWFKAHRGPGSKMLSVHVVGYGKYELEEDGAPVCEDPNSREGMQLIYLPPSPLLAESTTPITDIRAFTATLSLFPYHKIVK", "length": 1161 }, "evidence": [ { "id": "45920997", "url": "http://www.informatics.jax.org/homology/45920997", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8BHG1-1", "protein_name": "Nardilysin", "gene_name": "Nrdc", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLRRVAVAAVCVTGRKLRCEAGRELTALGRIEARGLCEESSKPFPTLTMPGRNKAKSTCSCPDLQPNGQDLGESGRLARLGADESEEEGRSFSNVGDPEIIKSPSDPKQYRYIKLQNGLQALLISDLSNVEGKTGNATDEEEEEEEEEEEEDDDDDDDDDDDDEDSGAEIQDDDEEGFDDEEEFDDDDDDEHDDDDLENEENELEELEERVEARKKTTEKQSAAALCVGVGSFADPDDLPGLAHFLEHMVFMGSLKYPDENGFDAFLKKHGGSDNASTDCERTVFQFDVQRKYFKEALDRWAQFFIHPLMIRDAIDREVEAVDSEYQLARPSDANRKEMLFGSLARPGHPMGKFFWGNAETLKHEPKKNNIDTHARLREFWMRYYSAHYMTLVVQSKETLDTLEKWVTEIFSQIPNNGLPKPNFSHLTDPFDTPAFNKLYRVVPIRKIHALTITWALPPQQQHYRVKPLHYISWLVGHEGKGSILSYLRKKCWALALFGGNGETGFEQNSTYSVFSISITLTDEGYEHFYEVAHTVFQYLKMLQKLGPEKRVFEEIQKIEDNEFHYQEQTDPVEYVENMCENMQLYPRQDFLTGDQLLFEYKPEVIAEALNQLVPQKANLVLLSGANEGRCDLKEKWFGTQYSIEDIENSWTELWKSNFDLNPDLHLPAENKYIATDFTLKAFDCPETEYPAKIVNTAQGCLWYKKDNKFKIPKAYIRFHLISPLIQKSAANVVLFDIFVNILTHNLAEPAYEADVAQLEYKLVAGEHGLIIRVKGFNHKLPLLFQLIIDYLTEFSSTPAVFTMITEQLKKTYFNILIKPETLAKDVRLLILEYSRWSMIDKYQALMDGLSLDSLLNFVKDFKSQLFVEGLVQGNVTSTESMDFLKYVVDKLNFAPLEREMPVQFQVVELPSGHHLCKVRALNKGDANSEVTVYYQSGTRSLREYTLMELLVMHMEEPCFDFLRTKQTLGYHVYPTCRNTSGILGFSVTVGTQATKYNSETVDKKIEEFLSSFEEKIENLTEDAFNTQVTALIKLKECEDTHLGEEVDRNWNEVVTQQYLFDRLAHEIEALKSFSKSDLVSWFKAHRGPGSKMLSVHVVGYGKYELEEDGAPFGEDSNSREGMQLTYLPPSPVLAESTTPITDIRAFTATLSLFPYHKIVK", "length": 1161 }, "evidence": [ { "id": "45920997", "url": "http://www.informatics.jax.org/homology/45920997", "database": "MGI" }, { "id": "O43847", "url": "https://omabrowser.org/oma/group/O43847/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VYT3-1", "protein_name": "FI23714p1", "gene_name": "Nrd1", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MLWQRYSAHLFRRFEFHVRTKRRSPITQLAGVRAITYSSLCKMTDQVKYLDIPDKSETDKKLYKTLLLGNGLHALIVSDPSPMPHDGFTTSESSSSKSTVSTSSSIISRSESTSSTSTDSESSEESSSEEGDEKLAACALLIDYGSFAEPTKYQGLAHFLEHMIFMGSEKYPKENIFDAHIKKCGGFANANTDCEDTLFYFEVAEKHLDSSLDYFTALMKAPLMKQEAMQRERSAVDSEFQQILQDDETRRDQLLASLATKGFPHGTFAWGNMKSLKENVDDAELHKILHEIRKEHYGANRMYVCLQARLPIDELESLVVRHFSGIPHNEVKAPDLSSFNYKDAFKAEFHEQVFFVKPVENETKLELTWVLPNVRQYYRSKPDQFLSYLLGYEGRGSLCAYLRRRLWALQLIAGIDENGFDMNSMYSLFNICIYLTDEGFKNLDEVLAATFAYVKLFANCGSMKDVYEEQQRNEETGFRFHAQRPAFDNVQELVLNLKYFPPKDILTGKELYYEYNEEHLKELISHLNEMKFNLMVTSRRKYDDISAYDKTEEWFGTEYATIPMPEKWRKLWEDSVPLPELFLPESNKYVTDDFTLHWHSMGRPEVPDSPKLLIKTDTCELWFRQDDKFDLPEAHMAFYFISPMQRQNAKNDAMCSLYEEMVRFHVCEELYPAISAGLSYSLSTIEKGLLLKVCGYNEKLHLIVEAIAEGMLNVAETLDENMLSAFVKNQRKAFFNALIKPKALNRDIRLCVLERIRWLMINKYKCLSSVILEDMREFAHQFPKELYIQSLIQGNYTEESAHNVMNSLLSRLNCKQIRERGRFLEDITVKLPVGTSIIRCHALNVQDTNTVITNFYQIGPNTVRVESILDLLMMFVDEPLFDQLRTKEQLGYHVGATVRLNYGIAGYSIMVNSQETKTTADYVEGRIEVFRAKMLQILRHLPQDEYEHTRDSLIKLKLVADLALSTEMSRNWDEIINESYLFDRRRRQIEVLRTLQKDEIINFVISIDGDNMRKLSVQVIGHRPAGMPEPLCGEDTAKCASKSDDESESENDDDDDEDEEEEESSEEEEEEEKEKEGLKGEDEDDLFYSLENKLNIVFLPAKFNNAFIITDIEKFKDDQYVYPQQKTQPKEEDELISAHIADAIRQV", "length": 1147 }, "evidence": [ { "id": "O43847", "url": "https://omabrowser.org/oma/group/O43847/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O43847", "url": "https://www.uniprot.org/uniprot/O43847" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O43847", "url": "https://www.uniprot.org/uniprot/O43847" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "O43847", "url": "https://www.uniprot.org/uniprot/O43847" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": 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