{ "uniprot_canonical_ac": "P08473-1", "uniprot_ac": "P08473", "uniprot_id": "NEP_HUMAN", "mass": { "chemical_mass": 85514.0, "monoisotopic_mass": 85514.0 }, "refseq": { "ac": "NP_000893", "name": "neprilysin isoform a", "summary": "The protein encoded by this gene is a type II transmembrane glycoprotein and a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). The encoded protein is present on leukemic cells of pre-B phenotype, which represent 85% of cases of ALL. This protein is not restricted to leukemic cells, however, and is found on a variety of normal tissues. The protein is a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. [provided by RefSeq, Aug 2017].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000893" }, "gene_names": [ { "name": "MME", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P08473", "id": "P08473" }, { "name": "CALLA; CD10; CMT2T; NEP; SCA43; SFE", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000893", "id": "NP_000893" }, { "name": "EPN", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08473", "id": "P08473" }, { "name": "MME", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000893", "id": "NP_000893" } ], "protein_names": [ { "name": "Neprilysin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P08473" }, { "name": "3.4.24.11", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08473" }, { "name": "Atriopeptidase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08473" }, { "name": "CALLA", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08473" }, { "name": "Common acute lymphocytic leukemia antigen", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08473" }, { "name": "Enkephalinase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08473" }, { "name": "NEP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08473" }, { "name": "Neutral endopeptidase 24.11", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08473" }, { "name": "Neutral endopeptidase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08473" }, { "name": "SFE", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08473" }, { "name": "Skin fibroblast elastase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08473" }, { "name": "neprilysin isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000893", "id": "NP_000893" }, { "name": "neprilysin; membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase, CALLA, CD10); atriopeptidase; common acute lymphocytic leukemia antigen; neutral endopeptidase 24.11; skin fibroblast elastase; neprilysin-411; neprilysin-390", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000893", "id": "NP_000893" } ], "function": [ { "annotation": "Association between the NEP rs701109 polymorphism and the clinical efficacy and safety of sacubitril/valsartan in Chinese patients with heart failure.", "evidence": [ { "database": "RefSeq", "id": "NP_000893", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000893" }, { "database": "PubMed", "id": "36976322", "url": "https://glygen.org/publication/PubMed/36976322" } ] }, { "annotation": "Dengue Virus Increases the Expression of TREM-1 and CD10 on Human Neutrophils.", "evidence": [ { "database": "RefSeq", "id": "NP_000893", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000893" }, { "database": "PubMed", "id": "36811498", "url": "https://glygen.org/publication/PubMed/36811498" } ] }, { "annotation": "Membrane metalloendopeptidase (MME) is positively correlated with systemic lupus erythematosus and may inhibit the occurrence of breast cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000893", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000893" }, { "database": "PubMed", "id": "37585411", "url": "https://glygen.org/publication/PubMed/37585411" } ] }, { "annotation": "Predictive role of neostromal CD10 expression in breast cancer patients treated with neoadjuvant chemotherapy. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000893", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000893" }, { "database": "PubMed", "id": "36685105", "url": "https://glygen.org/publication/PubMed/36685105" } ] }, { "annotation": "The protein encoded by this gene is a type II transmembrane glycoprotein and a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). The encoded protein is present on leukemic cells of pre-B phenotype, which represent 85% of cases of ALL. This protein is not restricted to leukemic cells, however, and is found on a variety of normal tissues. The protein is a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. [provided by RefSeq, Aug 2017].", "evidence": [ { "database": "RefSeq", "id": "NP_000893", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000893" } ] }, { "annotation": "Thermolysin-like specificity, but is almost confined on acting on polypeptides of up to 30 amino acids (PubMed:6349683, PubMed:6208535, PubMed:15283675, PubMed:8168535). Biologically important in the destruction of opioid peptides such as Met- and Leu-enkephalins by cleavage of a Gly-Phe bond (PubMed:6349683, PubMed:17101991). Catalyzes cleavage of bradykinin, substance P and neurotensin peptides (PubMed:6208535). Able to cleave angiotensin-1, angiotensin-2 and angiotensin 1-9 (PubMed:6349683, PubMed:15283675). Involved in the degradation of atrial natriuretic factor (ANF) and brain natriuretic factor (BNP(1-32)) (PubMed:2531377, PubMed:2972276, PubMed:16254193). Displays UV-inducible elastase activity toward skin preelastic and elastic fibers (PubMed:20876573).", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473#function" }, { "database": "PubMed", "id": "2972276", "url": "https://glygen.org/publication/PubMed/2972276" }, { "database": "PubMed", "id": "27588448", "url": "https://glygen.org/publication/PubMed/27588448" }, { "database": "PubMed", "id": "17101991", "url": "https://glygen.org/publication/PubMed/17101991" }, { "database": "PubMed", "id": "2531377", "url": "https://glygen.org/publication/PubMed/2531377" }, { "database": "PubMed", "id": "6208535", "url": "https://glygen.org/publication/PubMed/6208535" }, { "database": "PubMed", "id": "6349683", "url": "https://glygen.org/publication/PubMed/6349683" }, { "database": "PubMed", "id": "15283675", "url": "https://glygen.org/publication/PubMed/15283675" }, { "database": "PubMed", "id": "20876573", "url": "https://glygen.org/publication/PubMed/20876573" } ] } ], "disease": [ { "disease_id": "DOID:0110160", "recommended_name": { "id": "DOID:0110160", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110160", "name": "Charcot-Marie-Tooth disease axonal type 2T", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25." }, "synonyms": [ { "id": "DOID:0110160", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110160", "name": "AR-CMT2T", "description": "" }, { "id": "DOID:0110160", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110160", "name": "CMT2T", "description": "" }, { "id": "DOID:0110160", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110160", "name": "Charcot-Marie-Tooth neuropathy type 2T", "description": "" }, { "id": "DOID:0110160", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110160", "name": "autosomal recessive axonal Charcot-Marie-Tooth disease type 2T", "description": "" }, { "id": "MONDO:0014866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014866", "name": "Charcot-Marie-Tooth disease axonal type 2T", "description": "A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25." }, { "id": "MONDO:0014866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014866", "name": "CMT2T", "description": "" }, { "id": "MONDO:0014866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014866", "name": "Charcot-Marie-Tooth disease, axonal, type 2T", "description": "" }, { "id": "MONDO:0014866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014866", "name": "Charcot-Marie-Tooth neuropathy type 2T", "description": "" }, { "id": "MONDO:0014866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014866", "name": "DNAJB2-related CMT2", "description": "" }, { "id": "MONDO:0014866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014866", "name": "AR-CMT2T", "description": "" }, { "id": "MONDO:0014866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014866", "name": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2T", "description": "" }, { "id": "MONDO:0014866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014866", "name": "Charcot-Marie-Tooth neuropathy, type 2T", "description": "" }, { "id": "MONDO:0014866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014866", "name": "DNAJB2-related Charcot-Marie-Tooth disease type 2", "description": "" }, { "id": "MONDO:0014866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014866", "name": "autosomal recessive axonal Charcot-Marie-Tooth disease type 2T", "description": "" }, { "id": "MONDO:0014866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014866", "name": "Charcot-Marie-Tooth disease axonal type 2T", "description": "A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25." }, { "id": "MONDO:0014866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014866", "name": "CMT2T", "description": "" }, { "id": "MONDO:0014866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014866", "name": "Charcot-Marie-Tooth disease, axonal, type 2T", "description": "" }, { "id": "MONDO:0014866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014866", "name": "Charcot-Marie-Tooth neuropathy type 2T", "description": "" }, { "id": "MONDO:0014866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014866", "name": "DNAJB2-related CMT2", "description": "" }, { "id": "MONDO:0014866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014866", "name": "AR-CMT2T", "description": "" }, { "id": "MONDO:0014866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014866", "name": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2T", "description": "" }, { "id": "MONDO:0014866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014866", "name": "Charcot-Marie-Tooth neuropathy, type 2T", "description": "" }, { "id": "MONDO:0014866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014866", "name": "DNAJB2-related Charcot-Marie-Tooth disease type 2", "description": "" }, { "id": "MONDO:0014866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014866", "name": "autosomal recessive axonal Charcot-Marie-Tooth disease type 2T", "description": "" }, { "id": "MIM:617017", "resource": "MIM", "url": "https://www.omim.org/entry/617017", "name": "Charcot-Marie-Tooth disease, axonal, 2T", "description": "Charcot-Marie-Tooth disease, axonal, 2T" } ], "evidence": [ { "id": "617017", "database": "MIM", "url": "https://www.omim.org/entry/617017" } ] }, { "disease_id": "DOID:0111745", "recommended_name": { "id": "DOID:0111745", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111745", "name": "cerebellar ataxia type 43", "description": "An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2." }, "synonyms": [ { "id": "DOID:0111745", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111745", "name": "SCA43", "description": "" }, { "id": "MONDO:0014867", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014867", "name": "spinocerebellar ataxia 43", "description": "Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor." }, { "id": "MONDO:0014867", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014867", "name": "MME autosomal dominant cerebellar ataxia", "description": "" }, { "id": "MONDO:0014867", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014867", "name": "SCA43", "description": "" }, { "id": "MONDO:0014867", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014867", "name": "autosomal dominant cerebellar ataxia caused by mutation in MME", "description": "" }, { "id": "MONDO:0014867", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014867", "name": "spinocerebellar ataxia 43", "description": "" }, { "id": "MONDO:0014867", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014867", "name": "spinocerebellar ataxia 43; SCA43", "description": "" }, { "id": "MONDO:0014867", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014867", "name": "spinocerebellar ataxia type 43", "description": "" }, { "id": "MIM:617018", "resource": "MIM", "url": "https://www.omim.org/entry/617018", "name": "Spinocerebellar ataxia 43", "description": "Spinocerebellar ataxia 43" } ], "evidence": [ { "id": "617018", "database": "MIM", "url": "https://www.omim.org/entry/617018" } ] } ], "snv": [ { "evidence": [ { "id": "rs766623038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766623038" }, { "id": "rs766623038", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766623038" }, { "id": "rs766623038", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766623038" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 147, "end_pos": 147, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NES->NEA).", "chr_id": "3", "chr_pos": "155116559", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S147", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766623038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766623038" }, { "id": "rs766623038", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766623038" }, { "id": "rs766623038", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766623038" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 147, "end_pos": 147, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NES->NEP).", "chr_id": "3", "chr_pos": "155116559", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S147", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770141554", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770141554" }, { "id": "rs770141554", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770141554" }, { "id": "rs770141554", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770141554" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 149, "end_pos": 149, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IDS->NDS).", "chr_id": "3", "chr_pos": "155116670", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I149", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1442729166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1442729166" }, { "id": "rs1442729166", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1442729166" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 16, "end_pos": 16, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTP->NTS).", "chr_id": "3", "chr_pos": "155084213", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P16", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1339178202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1339178202" }, { "id": "rs1339178202", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1339178202" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 285, "end_pos": 285, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->DAT).", "chr_id": "3", "chr_pos": "155138234", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N285", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1434664230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1434664230" }, { "id": "rs1434664230", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1434664230" }, { "id": "rs1434664230", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1434664230" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 285, "end_pos": 285, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->KAT).", "chr_id": "3", "chr_pos": "155138236", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N285", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200961860", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200961860" }, { "id": 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"url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P08473", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08473" } ], "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", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P08473", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08473" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": 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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": "P08473", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08473" } ], "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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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "common_name": "Human" } ], "gene": [ { "name": "MME", "url": "https://www.uniprot.org/uniprot/P08473", "locus": { "chromosome": "3", "start_pos": 155183704, "end_pos": 155024124, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000196549", "url": "https://www.ensembl.org/id/ENSG00000196549" } ] } } ], "crossref": [ { "id": "ENSG00000196549", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196549", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P08473", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08473", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "3.4.24.11", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=3.4.24.11&UniProtAcc=P08473", "database": 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"PF05649", "url": "http://pfam.xfam.org/family/PF05649", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P08473", "url": "https://pharos.nih.gov/targets/P08473", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P08473", "url": "http://purl.obolibrary.org/obo/PR_P08473", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-2022377", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022377", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5578768", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578768", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000893", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000893", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "71459", "url": "https://www.rhea-db.org/rhea/71459", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "71467", "url": "https://www.rhea-db.org/rhea/71467", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "71475", "url": "https://www.rhea-db.org/rhea/71475", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "71479", "url": "https://www.rhea-db.org/rhea/71479", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A6Q8PFY6", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFY6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFY6-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFY6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2U302", "url": "https://www.uniprot.org/uniprot/A0A7I2U302", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2U302-1", "url": "https://www.uniprot.org/uniprot/A0A7I2U302-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9IYX7", "url": "https://www.uniprot.org/uniprot/C9IYX7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9IYX7-1", "url": "https://www.uniprot.org/uniprot/C9IYX7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JDZ3", "url": "https://www.uniprot.org/uniprot/C9JDZ3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JDZ3-1", "url": "https://www.uniprot.org/uniprot/C9JDZ3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08473-1", "url": "https://www.uniprot.org/uniprot/P08473-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q3KQS6", "url": "https://www.uniprot.org/uniprot/Q3KQS6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q3KQS6-1", "url": "https://www.uniprot.org/uniprot/Q3KQS6-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGKSESQMDITDINTPKPKKKQRWTPLEISLSVLVLLLTIIAVTMIALYATYDDGICKSSDCIKSAARLIQNMDATTEPCTDFFKYACGGWLKRNVIPETSSRYGNFDILRDELEVVLKDVLQEPKTEDIVAVQKAKALYRSCINESAIDSRGGEPLLKLLPDIYGWPVATENWEQKYGASWTAEKAIAQLNSKYGKKVLINLFVGTDDKNSVNHVIHIDQPRLGLPSRDYYECTGIYKEACTAYVDFMISVARLIRQEERLPIDENQLALEMNKVMELEKEIANATAKPEDRNDPMLLYNKMTLAQIQNNFSLEINGKPFSWLNFTNEIMSTVNISITNEEDVVVYAPEYLTKLKPILTKYSARDLQNLMSWRFIMDLVSSLSRTYKESRNAFRKALYGTTSETATWRRCANYVNGNMENAVGRLYVEAAFAGESKHVVEDLIAQIREVFIQTLDDLTWMDAETKKRAEEKALAIKERIGYPDDIVSNDNKLNNEYLELNYKEDEYFENIIQNLKFSQSKQLKKLREKVDKDEWISGAAVVNAFYSSGRNQIVFPAGILQPPFFSAQQSNSLNYGGIGMVIGHEITHGFDDNGRNFNKDGDLVDWWTQQSASNFKEQSQCMVYQYGNFSWDLAGGQHLNGINTLGENIADNGGLGQAYRAYQNYIKKNGEEKLLPGLDLNHKQLFFLNFAQVWCGTYRPEYAVNSIKTDVHSPGNFRIIGTLQNSAEFSEAFHCRKNSYMNPEKKCRVW", "length": 750, "header": "sp|P08473-1|NEP_HUMAN Isoform 1 of Neprilysin OS=Homo sapiens OX=9606 GN=MME PE=1 SV=2 CANONICAL=P08473-1" }, "isoforms": [ { "isoform_ac": "A0A6Q8PFY6-1", "url": "", "sequence": { "sequence": "MGKSESQMDITDINTPKPKKKQRWTPLEISLSVLVLLLTIIAVTMIALYATYDDGICKSSDCIKSAARLIQNMDATTEPCTDFFKYACGGWLKRNVIPETSSRYGNFDILRDELEVVLKDVLQEPKTEDIVAVQKAKALYRSCINESAIDSRGGEPLLKLLPDIYGWPVATENWEQKYGASWTAEKAIAQLNSKYGKKVLINLFVGTDDKNSVNHVIHIDQPRLGLPSRDYYECTGIYKEACTAYVDFMISVARLIRQEERLPIDENQLALEMNKVMELEKEIANATAKPEDRNDPMLLYNKMTLAQIQNNFSLEINGKALYGTTSETATWRRCANYVNGNMENAVGRLYVEAAFAGESKHVVEDLIAQIREVFIQTLDDLTWMDAETKKRAEEKALAIKERIGYPDDIVSNDNKLNNEYLELNYKEDEYFENIIQNLKFSQSKQLKKLREKVDKDDYKNYFCTLSSALSFFRAIRDRRETPGSSVRWISGAAVVNAFYSSGRNQIVFPAGILQPPFFSAQQSNSLNYGGIGMVIGHEITHGFDDNGRNFNKDGDLVDWWTQQSASNFKEQSQCMVYQYGNFSWDLAGGQHLNGINTLGENIADNGGLGQAYRAYQNYIKKNGEEKLLPGLDLNHKQLFFLNFAQVWCGTYRPEYAVNSIKTDVHSPGNFRIIGTLQNSAEFSEAFHCRKNSYMNPEKKCRVW", "length": 703, "header": "tr|A0A6Q8PFY6-1|NEP_HUMAN Computationally mapped isoform of Neprilysin OS=Homo sapiens OX=9606 GN=MME PE=1 SV=1 CANONICAL=P08473-1" }, "locus": { "chromosome": "3", "start_pos": 155180456, "end_pos": 155084168, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675418", "url": "https://www.ensembl.org/id/ENST00000675418" }, { "database": "Ensembl Peptide", "id": "ENSP00000502021", "url": "https://www.ensembl.org/id/ENSP00000502021" } ] } }, { "isoform_ac": "A0A7I2U302-1", "url": "", "sequence": { "sequence": "MGKSESQMDITDINTPKPKKKQRWTPLEISLSVLVLLLTIIAVTMIALYATYDDGICKSSDCIKSAARLIQNMDATTEPCTDFFKYACGGWLKRNVIPETSSRYGNFDILRDELEVVLKDVLQEPKTEDIVAVQKAKALYRSCINESAIDSRGGEPLLKLLPDIYGWPVATENWEQKYGASWTAEKAIAQLNSKYGKKVLINLFVGTDDKNSVNHVIHIDQPRLGLPSRDYYECTGIYKEACTAYVDFMISVARLIRQEERLPIDENQLALEMNKVMELEKEIANATAKPEDRNDPMLLYNKMTLAQIQNNFSLEINGKPFSWLNFTNEIMSTVNISITNEEDVVVYAPEYLTKLKPILTKYSARDLQNLMSWRFIMDLVSSLSRTYKESRNAFRKALYGTTSETATWRRCANYVNGNMENAVGRLYVEAAFAGESKHVVEDLIAQIREVFIQTLDDLTWMDAETKKRAEEKALAIKERIGYPDDIVSNDNKLNNEYLELNYKEDEYFENIIQNLKFSQSKQLKKLREKVDKDDYKNYFCTLSSALSFFRAIRDRRETPGSSVRWISGAAVVNAFYSSGRNQIVFPAGILQPPFFSAQQSNSLNYGGIGMVIGHEITHGFDDNGRNFNKDGDLVDWWTQQSASNFKEQSQCMVYQYGNFSWDLAGGQHLNGINTLGENIADNGGLGQAYRAYQNYIKKNGEEKLLPGLDLNHKQLFFLNFAQVWCGTYRPEYAVNSIKTDVHSPGNFRIIGTLQNSAEFSEAFHCRKNSYMNPEKKCRVW", "length": 780, "header": "tr|A0A7I2U302-1|A0A7I2U302_HUMAN Computationally mapped isoform of Neprilysin OS=Homo sapiens OX=9606 GN=MME PE=1 SV=1 CANONICAL=P08473-1" }, "locus": { "chromosome": "3", "start_pos": 155180456, "end_pos": 155084168, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000615825.2", "url": "https://www.ensembl.org/id/ENST00000615825.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000478173.2", "url": "https://www.ensembl.org/id/ENSP00000478173.2" } ] } }, { "isoform_ac": "C9IYX7-1", "url": "", "sequence": { "sequence": "MGKSESQMDITDINTPKPKKKQRWTPLEISLSVLVLLLTIIAVTMIALYATYDDGICKSSDCIKSAARLIQNMDATTEPCTDFFKYACGGWLKRNVIPETSSRYGNFDILRDELEVVLK", "length": 119, "header": "tr|C9IYX7-1|NEP_HUMAN Computationally mapped isoform of Neprilysin OS=Homo sapiens OX=9606 GN=MME PE=1 SV=1 CANONICAL=P08473-1" }, "locus": { "chromosome": "3", "start_pos": 155180456, "end_pos": 155084168, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000491026", "url": "https://www.ensembl.org/id/ENST00000491026" }, { "database": "Ensembl Peptide", "id": "ENSP00000418791", "url": "https://www.ensembl.org/id/ENSP00000418791" } ] } }, { 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"MGKSESQMDITDINTPKPKKKQRWTPLEISLSVLVLLLTIIAVTMIALYATYDDGICKSSDCIKSAARLIQNMDATTEPCTDFFKYACGGWLKRNVIPETSSRYGNFDILRDELEVVLKDVLQEPKTEDIVAVQKAKALYRSCINESAIDSRGGEPLLKLLPDIYGWPVATENWEQKYGASWTAEKAIAQLNSKYGKKVLINLFVGTDDKNSVNHVIHIDQPRLGLPSRDYYECTGIYKEACTAYVDFMISVARLIRQEERLPIDENQLALEMNKVMELEKEIANATAKPEDRNDPMLLYNKMTLAQIQNNFSLEINGKPFSWLNFTNEIMSTVNISITNEEDVVVYAPEYLTKLKPILTKYSARDLQNLMSWRFIMDLVSSLSRTYKESRNAFRKALYGTTSETATWRRCANYVNGNMENAVGRLYVEAAFAGESKHVVEDLIAQIREVFIQTLDDLTWMDAETKKRAEEKALAIKERIGYPDDIVSNDNKLNNEYLELNYKEDEYFENIIQNLKFSQSKQLKKLREKVDKDEWISGAAVVNAFYSSGRNQIVFPAGILQPPFFSAQQSNSLNYGGIGMVIGHEITHGFDDNGRNFNKDGDLVDWWTQQSASNFKEQSQCMVYQYGNFSWDLAGGQHLNGINTLGENIADNGGLGQAYRAYQNYIKKNGEEKLLPGLDLNHKQLFFLNFAQVWCGTYRPEYAVNSIKTDVHSPGNFRIIGTLQNSAEFSEAFHCRKNSYMNPEKKCRVW", "length": 750, "header": "sp|P08473-1|NEP_HUMAN Isoform 1 of Neprilysin OS=Homo sapiens OX=9606 GN=MME PE=1 SV=2 CANONICAL=P08473-1" }, "locus": { "chromosome": "3", "start_pos": 155180456, "end_pos": 155084168, "strand": "-", "evidence": [ { 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J, Wu Q", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578768", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578768" } ], "reference": [ { "type": "PubMed", "id": "10880574", "url": "https://glygen.org/publication/PubMed/10880574" } ] }, { "title": "Angiotensin II generation by mast cell alpha- and beta-chymases.", "journal": "Biochimica et biophysica acta", "date": "2000", "authors": "Caughey GH, Raymond WW, Wolters PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022377", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022377" } ], "reference": [ { "type": "PubMed", "id": "10899625", "url": "https://glygen.org/publication/PubMed/10899625" } ] }, { "title": "A human homolog of angiotensin-converting enzyme. Cloning and functional expression as a captopril-insensitive carboxypeptidase.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Tipnis SR, Hooper NM, Hyde R, Karran E, Christie G, Turner AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022377", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022377" } ], "reference": [ { "type": "PubMed", "id": "10924499", "url": "https://glygen.org/publication/PubMed/10924499" } ] }, { "title": "A novel angiotensin-converting enzyme-related carboxypeptidase (ACE2) converts angiotensin I to angiotensin 1-9.", "journal": "Circulation research", "date": "2000", "authors": "Donoghue M, Hsieh F, Baronas E, Godbout K, Gosselin M, Stagliano N, Donovan M, Woolf B, Robison K, Jeyaseelan R, Breitbart RE, Acton S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022377", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022377" } ], "reference": [ { "type": "PubMed", "id": "10969042", "url": "https://glygen.org/publication/PubMed/10969042" } ] }, { "title": "Functional evidence for a role of vascular chymase in the production of angiotensin II in isolated human arteries.", "journal": "Circulation", "date": "2001", "authors": "Richard V, Hurel-Merle S, Scalbert E, Ferry G, Lallemand F, Bessou JP, Thuillez C", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022377", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022377" } ], "reference": [ { "type": "PubMed", "id": "11502696", "url": "https://glygen.org/publication/PubMed/11502696" } ] }, { "title": "CD10 is a sensitive and diagnostically useful immunohistochemical marker of normal endometrial stroma and of endometrial stromal neoplasms.", "journal": "Histopathology", "date": "2001", "authors": "McCluggage WG, Sumathi VP, Maxwell P", "evidence": [ { "database": "GlyGen", "id": "A0359", "url": "https://data.glygen.org/GLY_000625" } ], "reference": [ { "type": "PubMed", "id": "11532038", "url": "https://glygen.org/publication/PubMed/11532038" } ] }, { "title": "Hydrolysis of biological peptides by human angiotensin-converting enzyme-related carboxypeptidase.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Vickers C, Hales P, Kaushik V, Dick L, Gavin J, Tang J, Godbout K, Parsons T, Baronas E, Hsieh F, Acton S, Patane M, Nichols A, Tummino P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022377", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022377" } ], "reference": [ { "type": "PubMed", "id": "11815627", "url": "https://glygen.org/publication/PubMed/11815627" } ] }, { "title": "Pivotal role of the renin/prorenin receptor in angiotensin II production and cellular responses to renin.", "journal": "The Journal of clinical investigation", "date": "2002", "authors": "Nguyen G, Delarue F, Burckle C, Bouzhir L, Giller T, Sraer JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022377", "url": 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characterization of a soluble corin.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Knappe S, Wu F, Masikat MR, Morser J, Wu Q", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578768", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578768" } ], "reference": [ { "type": "PubMed", "id": "14559895", "url": "https://glygen.org/publication/PubMed/14559895" } ] }, { "title": "Structural analysis of neprilysin with various specific and potent inhibitors.", "journal": "Acta crystallographica. 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{ "uniprot_canonical_ac": "Q61391-1", "protein_name": "Neprilysin", "gene_name": "Mme", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGRSESQMDITDINAPKPKKKQRWTPLEISLSVLVLLLTIIAVTMIALYATYDDGICKSSDCIKSAARLIQNMDASVEPCTDFFKYACGGWLKRNVIPETSSRYSNFDILRDELEVILKDVLQEPKTEDIVAVQKAKTLYRSCINESAIDSRGGQPLLKLLPDIYGWPVASDNWDQTYGTSWTAEKSIAQLNSKYGKKVLINFFVGTDDKNSTQHIIHFDQPRLGLPSRDYYECTGIYKEACTAYVDFMISVARLIRQEQSLPIDENQLSLEMNKVMELEKEIANATTKPEDRNDPMLLYNKMTLAKLQNNFSLEVNGKSFSWSNFTNEIMSTVNINIQNEEEVVVYAPEYLTKLKPILTKYSPRDLQNLMSWRFIMDLVSSLSRNYKESRNAFRKALYGTTSETATWRRCANYVNGNMENAVGRLYVEAAFAGESKHVVEDLIAQIREVFIQTLDDLTWMDAETKKKAEEKALAIKERIGYPDDIISNENKLNNEYLELNYREDEYFENIIQNLKFSQSKQLKKLREKVDKDEWISGAAVVNAFYSSGRNQIVFPAGILQPPFFSAQQSNSLNYGGIGMVIGHEITHGFDDNGRNFNKDGDLVDWWTQQSANNFKDQSQCMVYQYGNFSWDLAGGQHLNGINTLGENIADNGGIGQAYRAYQNYVKKNGEEKLLPGLDLNHKQLFFLNFAQVWCGTYRPEYAVNSIKTDVHSPGNFRIIGTLQNSAEFADAFHCRKNSYMNPERKCRVW", "length": 750 }, "evidence": [ { "id": "45934911", "url": "http://www.informatics.jax.org/homology/45934911", "database": "MGI" }, { "id": "P08473", "url": "https://omabrowser.org/oma/group/P08473/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 10, "go_terms": [ { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "endopeptidase activity", "id": "GO:0004175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004175", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "exopeptidase activity", "id": "GO:0008238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008238", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "peptide binding", "id": "GO:0042277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042277", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "phosphatidylserine binding", "id": "GO:0001786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001786", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "cardiolipin binding", "id": "GO:1901612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901612", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "oligopeptidase activity", "id": "GO:0070012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070012", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 24, "go_terms": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "cellular response to UV-B", "id": "GO:0071493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071493", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "amyloid-beta metabolic process", "id": "GO:0050435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050435", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "positive regulation of long-term synaptic potentiation", "id": "GO:1900273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900273", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "sensory perception of pain", "id": "GO:0019233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019233", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "hormone catabolic process", "id": "GO:0042447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042447", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "placenta development", "id": "GO:0001890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001890", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "peptide metabolic process", "id": "GO:0006518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006518", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "cellular response to cytokine stimulus", "id": "GO:0071345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071345", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "bradykinin catabolic process", "id": "GO:0010815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010815", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "creatinine metabolic process", "id": "GO:0046449", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046449", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "replicative senescence", "id": "GO:0090399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090399", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "positive regulation of neurogenesis", "id": "GO:0050769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050769", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "cellular response to UV-A", "id": "GO:0071492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071492", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "amyloid-beta clearance", "id": "GO:0097242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097242", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "substance P catabolic process", "id": "GO:0010814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010814", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "neuropeptide processing", "id": "GO:0061837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061837", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "amyloid-beta clearance by cellular catabolic process", "id": "GO:0150094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150094", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 19, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "brush border", "id": "GO:0005903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005903", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "secretory granule membrane", "id": "GO:0030667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030667", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" }, { "name": "neuron projection terminus", "id": "GO:0044306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044306", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 145, "end_pos": 147, "annotation": "n_glycosylation_sequon" }, { "start_pos": 285, "end_pos": 287, "annotation": "n_glycosylation_sequon" }, { "start_pos": 311, "end_pos": 313, "annotation": "n_glycosylation_sequon" }, { "start_pos": 325, "end_pos": 327, "annotation": "n_glycosylation_sequon" }, { "start_pos": 335, "end_pos": 337, "annotation": "n_glycosylation_sequon" }, { "start_pos": 628, "end_pos": 630, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Glycosylation at Asn-628 is necessary both for surface expression and neutral endopeptidase activity.", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" }, { "database": "PubMed", "id": "12754519", "url": "https://glygen.org/publication/PubMed/12754519" }, { "database": "PubMed", "id": "22766194", "url": "https://glygen.org/publication/PubMed/22766194" }, { "database": "PubMed", "id": "10669592", "url": "https://glygen.org/publication/PubMed/10669592" }, { "database": "PubMed", "id": "17704566", "url": "https://glygen.org/publication/PubMed/17704566" }, { "database": "PubMed", "id": "14747736", "url": "https://glygen.org/publication/PubMed/14747736" } ] }, { "annotation": "Myristoylation is a determinant of membrane targeting.", "evidence": [ { "database": "UniProtKB", "id": "P08473", "url": "https://www.uniprot.org/uniprot/P08473" }, { "database": "PubMed", "id": "19756956", "url": "https://glygen.org/publication/PubMed/19756956" } ] } ], "interactions": [], "reactions": [ { "id": "71459", "name": "", "equation": "H2O + substance P = L-Leu-L-Met-NH2 + substance P(1-9)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P07861-1", "P47820-1", "P12821-1", "P08473-1", "P09470-1", "Q61391-1" ], "evidence": [ { "id": "71459", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/71459" } ] }, { "id": "71467", "name": "", "equation": "H2O + substance P = L-Phe-Gly-L-Leu-L-Met-NH2 + substance P(1-7)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P07861-1", "P08473-1", "Q61391-1" ], "evidence": [ { "id": "71467", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/71467" } ] }, { "id": "71475", "name": "", "equation": "H2O + neurotensin = L-isoleucyl-L-leucine + neurotensin(1-11)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P07861-1", "P47820-1", "P12821-1", "P08473-1", "P09470-1", "Q61391-1" ], "evidence": [ { "id": "71475", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/71475" } ] }, { "id": "71479", "name": "", "equation": "H2O + neurotensin = L-tyrosyl-L-isoleucyl-L-leucine + neurotensin(1-10)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P07861-1", "P08473-1", "Q61391-1" ], "evidence": [ { "id": "71479", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/71479" } ] }, { "id": "R-HSA-2022368", "name": "MME:Zn2+ hydrolyses AGT(34-42)", "equation": "", "summary": "Neprilysin (MME aka neutral endopeptidase NEP) hydrolyzes angiotensin-(1-9) (AGT(34-42)) to yield angiotensin-(1-7) (Rice et al. 2004). The hydrolysis of angiotensin-(1-9) catalyzed by neprilysin is more efficient than that catalyzed by angiotensin-converting enzyme (ACE) (Rice et al. 2004). MME is the major enzyme involved in the metabolic inactivation of a number of bioactive signaling peptides including the enkephalins, substance P, endothelin, bradykinin, atrial natriuretic factor, and the incretin hormone glucagon-like peptide 1. MME requires zinc as cofactor (Oefner et al. 2004, Oefner et al. 2007).", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [ "R-HSA-2022348" ], "output_participant_list": [ "R-HSA-2022351" ], "enzyme_list": [ "P08473-1" ], "evidence": [ { "id": "R-HSA-2022368", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022368" } ] }, { "id": "R-HSA-2022396", "name": "MME:Zn2+ hydrolyses AGT(34-43)", "equation": "", "summary": "Neprilysin (MME aka neutral endopeptidase NEP) hydrolyzes angiotensin-(1-10) (AGT(34-43), angiotensin I) directly to angiotensin-(1-7) (Rice et al. 2004). MME is the major enzyme involved in the metabolic inactivation of a number of bioactive signaling peptides including the enkephalins, substance P, endothelin, bradykinin, atrial natriuretic factor, and the incretin hormone glucagon-like peptide 1. MME requires zinc as cofactor (Oefner et al. 2004, Oefner et al. 2007).", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P08473-1" ], "evidence": [ { "id": "R-HSA-2022396", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022396" } ] }, { "id": "R-HSA-6798743", "name": "Exocytosis of secretory granule membrane proteins", "equation": "", "summary": "Secretory vesicles provide a reservoir of membrane-associated receptors that are required at the earliest stages of the neutrophil-mediated inflammatory response. They are mobilized in response to a wide variety of inflammatory stimuli (Sengelov et al. 1993a,b). Resultant cell surface changes allow the neutrophil to establish firm contact with activated vascular epithelium (Faurschou & Borregaard 2003).", "cellular_location": "plasma membrane, secretory granule membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P08575-3", "Q86UQ4-1", "P63000-1", "P43353-1", "P15144-1", "P61586-1", "P61018-1", "P61020-1", "P15291-1", "P08473-1", "P61026-1", "P51149-1" ], "evidence": [ { "id": "R-HSA-6798743", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798743" } ] }, { "id": "R-HSA-9727607", "name": "MME:Zn2+ binds sacubitrilat", "equation": "", "summary": "Neprilysin (MME) is responsible for the degradation of atrial and brain natriuretic peptides (NPPA and NPPB respectively), two blood pressure\u2013lowering peptides that work by reducing blood volume (Richards et al. 1990). Sacubitril is an antihypertensive drug used in combination with valsartan for the treatment of hypertension and heart failure (Gu et al. 2010, Kobalava et al. 2016, Kanodia et al. 2020). Sacubitril is a prodrug that is activated to sacubitrilat (LBQ657) by de-ethylation via esterases (Shi et al. 2016). Sacubitrilat inhibits MME, leading to a lowering of hypertension (Zheng et al. 2021). Angiotensin receptor blockade (via valsartan) and neprilysin inhibition (via sacubitril) together may offer superior benefits for the treatment of hypertension and heart failure than ACE inhibitor monotherapy (McMurray et al. 2014).", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P08473-1" ], "evidence": [ { "id": "R-HSA-9727607", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9727607" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-2022348", "participant_name": "AGT(34-42) [extracellular region]", "crossref": [ { "id": "P01019", "database": "UniProt", "url": "" }, { "id": "7C6A", "database": "PDB", "url": "" }, { "id": "2WXW", "database": "PDB", "url": "" }, { "id": "2X0B", "database": "PDB", "url": "" }, { "id": "15475", "database": "Orphanet", "url": "" }, { "id": "6I3I", "database": "PDB", "url": "" }, { "id": "6I3F", "database": "PDB", "url": "" }, { "id": "3CK0", "database": "PDB", "url": "" }, { "id": "P01019", "database": "GeneCards", "url": "" }, { "id": "ENST00000680041", "database": "Ensembl", "url": "" }, { "id": "ENSP00000505963", "database": "Ensembl", "url": "" }, { "id": "ENSP00000505985", "database": "Ensembl", "url": "" }, { "id": "ENST00000681269", "database": "Ensembl", "url": "" }, { "id": "6JOD", "database": "PDB", "url": "" }, { "id": "ENST00000681514", "database": "Ensembl", "url": "" }, { "id": "3WOO", "database": "PDB", "url": "" }, { "id": "5M3X", "database": "PDB", "url": "" }, { "id": "ENSG00000135744", "database": "OpenTargets", "url": "" }, { "id": "1N9V", "database": "PDB", "url": "" }, { "id": "2JP8", "database": "PDB", "url": "" }, { "id": "5XJM", "database": "PDB", "url": "" }, { "id": "5M3Y", "database": "PDB", "url": "" }, { "id": "P01019", "database": "Pharos - Targets", "url": "" }, { "id": "4FYS", "database": "PDB", "url": "" }, { "id": "4AA1", "database": "PDB", "url": "" }, { "id": "4APH", "database": "PDB", "url": "" }, { "id": "ENSG00000135744-AGT", "database": "HPA", "url": "" }, { "id": "1N9U", "database": "PDB", "url": "" }, { "id": "HMDBP02609", "database": "HMDB Protein", "url": "" }, { "id": "P01019", "database": "PRO", "url": "" }, { "id": "5E2Q", "database": "PDB", "url": "" }, { "id": "6OS0", "database": "PDB", "url": "" }, { "id": "ENSP00000505063", "database": "Ensembl", "url": "" }, { "id": "ENSP00000355627", "database": "Ensembl", "url": "" }, { "id": "3WOR", "database": "PDB", "url": "" }, { "id": "ENST00000366667", "database": "Ensembl", "url": "" }, { "id": "ENSP00000504866", "database": "Ensembl", "url": "" }, { "id": "NP_000020.1", "database": "RefSeq", "url": "" }, { "id": "ENST00000679738", "database": "Ensembl", "url": "" }, { "id": "ENSG00000135744", "database": "Ensembl", "url": "" } ] }, { "participant_id": "R-HSA-2022351", "participant_name": "AGT(34-40) [extracellular region]", "crossref": [ { "id": "ENST00000681514", "database": "Ensembl", "url": "" }, { "id": "P01019", "database": "PRO", "url": "" }, { "id": "ENSG00000135744", "database": "Ensembl", "url": "" }, { "id": "ENST00000679738", "database": "Ensembl", "url": "" }, { "id": "NP_000020.1", "database": "RefSeq", "url": "" }, { "id": "2X0B", "database": "PDB", "url": "" }, { "id": "4APH", "database": "PDB", "url": "" }, { "id": "ENSP00000505963", "database": "Ensembl", "url": "" }, { "id": "ENSP00000355627", "database": "Ensembl", "url": "" }, { "id": "1N9V", "database": "PDB", "url": "" }, { "id": "7C6A", "database": "PDB", "url": "" }, { "id": "4FYS", "database": "PDB", "url": "" }, { "id": "P01019", "database": "GeneCards", "url": "" }, { "id": "6OS0", "database": "PDB", "url": "" }, { "id": "5M3X", "database": "PDB", "url": "" }, { "id": "ENST00000366667", "database": "Ensembl", "url": "" }, { "id": "ENST00000681269", "database": "Ensembl", "url": "" }, { "id": "1N9U", "database": "PDB", "url": "" }, { "id": "6I3I", "database": "PDB", "url": "" }, { "id": "5XJM", "database": "PDB", "url": "" }, { "id": "P01019", "database": "UniProt", "url": "" }, { "id": "P01019", "database": "Pharos - Targets", "url": "" }, { "id": "3CK0", "database": "PDB", "url": "" }, { "id": "5E2Q", "database": "PDB", "url": "" }, { "id": "3WOO", "database": "PDB", "url": "" }, { "id": "3WOR", "database": "PDB", "url": "" }, { "id": "ENSP00000505985", "database": "Ensembl", "url": "" }, { "id": "ENSG00000135744-AGT", "database": "HPA", "url": "" }, { "id": "15475", "database": "Orphanet", "url": "" }, { "id": "2JP8", "database": "PDB", "url": "" }, { "id": "ENSP00000504866", "database": "Ensembl", "url": "" }, { "id": "6JOD", "database": "PDB", "url": "" }, { "id": "HMDBP02609", "database": "HMDB Protein", "url": "" }, { "id": "6I3F", "database": "PDB", "url": "" }, { "id": "5M3Y", "database": "PDB", "url": "" }, { "id": "2WXW", "database": "PDB", "url": "" }, { "id": "4AA1", "database": "PDB", "url": "" }, { "id": "ENST00000680041", "database": "Ensembl", "url": "" }, { "id": "ENSP00000505063", "database": "Ensembl", "url": "" }, { "id": "ENSG00000135744", "database": "OpenTargets", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "P07861", "gene_name": "Mme", "activity": [ { "ec_number": "3.4.24.11", "activity": "Preferential cleavage of polypeptides between hydrophobic residues, particularly with Phe or Tyr at P1'.", "evidence": [ { "id": "P07861", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07861" } ] }, { "ec_number": "3.4.24.11", "activity": "", "evidence": [ { "id": "P07861", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07861" } ] } ] }, { "uniprot_ac": "P08473", "gene_name": "MME", "activity": [ { "ec_number": "3.4.24.11", "activity": "Preferential cleavage of polypeptides between hydrophobic residues, particularly with Phe or Tyr at P1'.", "evidence": [ { "id": "P08473", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08473" } ] }, { "ec_number": "3.4.24.11", "activity": "", "evidence": [ { "id": "P08473", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08473" } ] } ] }, { "uniprot_ac": "P08575", "gene_name": "PTPRC", "activity": [ { "ec_number": "3.1.3.48", "activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "P08575", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08575" } ] }, { "ec_number": "3.1.3.48", "activity": "", "evidence": [ { "id": "P08575", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08575" } ] } ] }, { "uniprot_ac": "P09470", "gene_name": "Ace", "activity": [ { "ec_number": "3.4.-.-", "activity": "", "evidence": [ { "id": "P09470", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09470" } ] }, { "ec_number": "3.4.15.1", "activity": "angiotensin I + H2O = angiotensin II + L-histidyl-L-leucine.", "evidence": [ { "id": "P09470", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09470" } ] }, { "ec_number": "3.4.15.1", "activity": "", "evidence": [ { "id": "P09470", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09470" } ] } ] }, { "uniprot_ac": "P12821", "gene_name": "ACE", "activity": [ { "ec_number": "3.4.-.-", "activity": "", "evidence": [ { "id": "P12821", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12821" } ] }, { "ec_number": "3.4.15.1", "activity": "angiotensin I + H2O = angiotensin II + L-histidyl-L-leucine.", "evidence": [ { "id": "P12821", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12821" } ] }, { "ec_number": "3.4.15.1", "activity": "", "evidence": [ { "id": "P12821", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12821" } ] } ] }, { "uniprot_ac": "P15144", "gene_name": "ANPEP", "activity": [ { "ec_number": "3.4.11.2", "activity": "Release of an N-terminal amino acid, Xaa-|-Yaa- from a peptide, amide or arylamide. Xaa is preferably Ala, but may be most amino acids including Pro (slow action). When a terminal hydrophobic residue is followed by a prolyl residue, the two may be released as an intact Xaa-Pro dipeptide.", "evidence": [ { "id": "P15144", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15144" } ] }, { "ec_number": "3.4.11.2", "activity": "", "evidence": [ { "id": "P15144", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15144" } ] } ] }, { "uniprot_ac": "P15291", "gene_name": "B4GALT1", "activity": [ { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "P15291", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15291" } ] }, { "ec_number": "2.4.1.275", "activity": "a beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + UDP-alpha-D-galactose = a neolactoside nLc4Cer(d18:1(4E)) + H(+) + UDP.", "evidence": [ { "id": "P15291", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15291" } ] }, { "ec_number": "2.4.1.22", "activity": "D-glucose + UDP-alpha-D-galactose = H(+) + lactose + UDP.", "evidence": [ { "id": "P15291", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15291" } ] }, { "ec_number": "2.4.1.38", "activity": "an N-acetyl-beta-D-glucosaminyl derivative + UDP-alpha-D-galactose = a beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + H(+) + UDP.", "evidence": [ { "id": "P15291", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15291" } ] }, { "ec_number": "2.4.1.90", "activity": "N-acetyl-D-glucosamine + UDP-alpha-D-galactose = beta-D-galactosyl-(1->4)-N-acetyl-D-glucosamine + H(+) + UDP.", "evidence": [ { "id": "P15291", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15291" } ] } ] }, { "uniprot_ac": "P43353", "gene_name": "ALDH3B1", "activity": [ { "ec_number": "1.2.1.5", "activity": "an aldehyde + H2O + NAD(+) = a carboxylate + 2 H(+) + NADH.", "evidence": [ { "id": "P43353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43353" } ] }, { "ec_number": "1.2.1.28", "activity": "benzaldehyde + H2O + NAD(+) = benzoate + 2 H(+) + NADH.", "evidence": [ { "id": "P43353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43353" } ] }, { "ec_number": "1.2.1.7", "activity": "benzaldehyde + H2O + NADP(+) = benzoate + 2 H(+) + NADPH.", "evidence": [ { "id": "P43353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43353" } ] }, { "ec_number": "1.2.1.7", "activity": "", "evidence": [ { "id": "P43353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43353" } ] }, { "ec_number": "1.2.1.5", "activity": "", "evidence": [ { "id": "P43353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43353" } ] }, { "ec_number": "1.2.1.28", "activity": "", "evidence": [ { "id": "P43353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43353" } ] } ] }, { "uniprot_ac": "P47820", "gene_name": "Ace", "activity": [ { "ec_number": "3.4.15.1", "activity": "angiotensin I + H2O = angiotensin II + L-histidyl-L-leucine.", "evidence": [ { "id": "P47820", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P47820" } ] }, { "ec_number": "3.4.15.1", "activity": "", "evidence": [ { "id": "P47820", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P47820" } ] }, { "ec_number": "3.4.-.-", "activity": "", "evidence": [ { "id": "P47820", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P47820" } ] } ] }, { "uniprot_ac": "P51149", "gene_name": "RAB7A", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P51149", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51149" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P51149", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51149" } ] } ] }, { "uniprot_ac": "P61018", "gene_name": "RAB4B", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61018", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61018" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61018", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61018" } ] } ] }, { "uniprot_ac": "P61020", "gene_name": "RAB5B", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61020", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61020" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61020", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61020" } ] } ] }, { "uniprot_ac": "P61026", "gene_name": "RAB10", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61026", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61026" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61026", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61026" } ] } ] }, { "uniprot_ac": "P61586", "gene_name": "RHOA", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61586" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61586" } ] } ] }, { "uniprot_ac": "P63000", "gene_name": "RAC1", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P63000", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P63000" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P63000", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P63000" } ] } ] }, { "uniprot_ac": "Q61391", "gene_name": "Mme", "activity": [ { "ec_number": "3.4.24.11", "activity": "Preferential cleavage of polypeptides between hydrophobic residues, particularly with Phe or Tyr at P1'.", "evidence": [ { "id": "Q61391", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q61391" } ] }, { "ec_number": "3.4.24.11", "activity": "", "evidence": [ { "id": "Q61391", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q61391" } ] } ] }, { "uniprot_ac": "Q86UQ4", "gene_name": "ABCA13", "activity": [ { "ec_number": "7.6.2.-", "activity": "", "evidence": [ { "id": "Q86UQ4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86UQ4" } ] } ] } ], "biomarkers": [ { "assessed_biomarker_entity": "Cluster of differentiation 10 (CD10)", "biomarker_id": "A0359", "evidence": [ { "id": "GLY_000625", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000625" }, { "id": "15571618", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/15571618" }, { "id": "11532038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11532038" } ], "instances": [ { "best_biomarker_type": "diagnostic", "status": "increased CD10 level", "disease": { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, "tissue": { "name": "uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "evidence": [ { "id": "GLY_000625", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000625" }, { "id": "15571618", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/15571618" }, { "id": "11532038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11532038" } ] } 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