{ "uniprot_canonical_ac": "P11172-1", "uniprot_ac": "P11172", "uniprot_id": "UMPS_HUMAN", "mass": { "chemical_mass": 52222.0, "monoisotopic_mass": 52222.0 }, "refseq": { "ac": "NP_000364", "name": "uridine 5'-monophosphate synthase", "summary": "This gene encodes a uridine 5'-monophosphate synthase. The encoded protein is a bifunctional enzyme that catalyzes the final two steps of the de novo pyrimidine biosynthetic pathway. The first reaction is carried out by the N-terminal enzyme orotate phosphoribosyltransferase which converts orotic acid to orotidine-5'-monophosphate. The terminal reaction is carried out by the C-terminal enzyme OMP decarboxylase which converts orotidine-5'-monophosphate to uridine monophosphate. Defects in this gene are the cause of hereditary orotic aciduria. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000364" }, "gene_names": [ { "name": "UMPS", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P11172", "id": "P11172" }, { "name": "OPRT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000364", "id": "NP_000364" }, { "name": "SW-cl.21", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P11172", "id": "P11172" }, { "name": "UMPS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000364", "id": "NP_000364" } ], "protein_names": [ { "name": "Uridine 5'-monophosphate synthase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P11172" }, { "name": "OMPdecase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11172" }, { "name": "UMP synthase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11172" }, { "name": "orotate phosphoribosyltransferase; OPRTase; orotidine 5'-phosphate decarboxylase; UMP synthase; OMPdecase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000364", "id": "NP_000364" }, { "name": "uridine 5'-monophosphate synthase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000364", "id": "NP_000364" } ], "function": [ { "annotation": "Bifunctional enzyme catalyzing the last two steps of de novo pyrimidine biosynthesis, orotate phosphoribosyltransferase (OPRT), which converts orotate to orotidine-5'-monophosphate (OMP), and orotidine-5'-monophosphate decarboxylase (ODC), the terminal enzymatic reaction that decarboxylates OMP to uridine monophosphate (UMP).", "evidence": [ { "database": "UniProtKB", "id": "P11172", "url": "https://www.uniprot.org/uniprot/P11172#function" }, { "database": "PubMed", "id": "9042911", "url": "https://glygen.org/publication/PubMed/9042911" }, { "database": "PubMed", "id": "18184586", "url": "https://glygen.org/publication/PubMed/18184586" } ] }, { "annotation": "Human uridine 5'-monophosphate synthase stores metabolic potential in inactive biomolecular condensates.", "evidence": [ { "database": "RefSeq", "id": "NP_000364", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000364" }, { "database": "PubMed", "id": "36708921", "url": "https://glygen.org/publication/PubMed/36708921" } ] }, { "annotation": "LncRNA SNORD3A specifically sensitizes breast cancer cells to 5-FU by sponging miR-185-5p to enhance UMPS expression. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000364", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000364" }, { "database": "PubMed", "id": "32382150", "url": "https://glygen.org/publication/PubMed/32382150" } ] }, { "annotation": "Partial UMPS-deficiency should be included in the differential diagnosis of mild orotic aciduria.", "evidence": [ { "database": "RefSeq", "id": "NP_000364", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000364" }, { "database": "PubMed", "id": "28205048", "url": "https://glygen.org/publication/PubMed/28205048" } ] }, { "annotation": "The UMPS 638 CC genotype might be a candidate biomarker predicting toxicity in patients receiving tegafur-uracil/leucovorin-based preoperative chemoradiation for locally advanced rectal cancer Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000364", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000364" }, { "database": "PubMed", "id": "28347333", "url": "https://glygen.org/publication/PubMed/28347333" } ] }, { "annotation": "This gene encodes a uridine 5'-monophosphate synthase. The encoded protein is a bifunctional enzyme that catalyzes the final two steps of the de novo pyrimidine biosynthetic pathway. The first reaction is carried out by the N-terminal enzyme orotate phosphoribosyltransferase which converts orotic acid to orotidine-5'-monophosphate. The terminal reaction is carried out by the C-terminal enzyme OMP decarboxylase which converts orotidine-5'-monophosphate to uridine monophosphate. Defects in this gene are the cause of hereditary orotic aciduria. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_000364", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000364" } ] } ], "disease": [ { "disease_id": "DOID:0050833", "recommended_name": { "id": "DOID:0050833", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050833", "name": "orotic aciduria", "description": "A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine." }, "synonyms": [ { "id": "MONDO:0009797", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009797", "name": "orotic aciduria", "description": "An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine." }, { "id": "MONDO:0009797", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009797", "name": "orotic aciduria", "description": "" }, { "id": "MONDO:0009797", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009797", "name": "oroticaciduria", "description": "" }, { "id": "MONDO:0009797", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009797", "name": "orotidylic decarboxylase deficiency", "description": "" }, { "id": "MONDO:0009797", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009797", "name": "uridine monophosphate synthetase deficiency", "description": "" }, { "id": "MONDO:0009797", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009797", "name": "OPRT and ODC deficiency", "description": "" }, { "id": "MONDO:0009797", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009797", "name": "UMP synthtase deficiency", "description": "" }, { "id": "MONDO:0009797", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009797", "name": "UMPS", "description": "" }, { "id": "MONDO:0009797", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009797", "name": "Ump synthase deficiency", "description": "" }, { "id": "MONDO:0009797", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009797", "name": "Umps deficiency", "description": "" }, { "id": "MONDO:0009797", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009797", "name": "hereditary orotic aciduria", "description": "" }, { "id": "MONDO:0009797", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009797", "name": "orotate phosphoribosyltransferase and OMP decarboxylase deficiency", "description": "" }, { "id": "MONDO:0009797", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009797", "name": "orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency", "description": "" }, { "id": "MONDO:0009797", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009797", "name": "orotic aciduria 1", "description": "" }, { "id": "MONDO:0009797", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009797", "name": "orotic aciduria II (formerly)", "description": "" }, { "id": "MONDO:0009797", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009797", "name": "orotic aciduria type 1", "description": "" }, { "id": "MONDO:0009797", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009797", "name": "orotic aciduria without megaloblastic Anaemia", "description": "" }, { "id": "MONDO:0009797", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009797", "name": "orotic aciduria without megaloblastic Anemia", "description": "" }, { "id": "MONDO:0009797", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009797", "name": "oroticaciduria 1", "description": "" }, { "id": "MONDO:0009797", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009797", "name": "orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency", "description": "" }, { "id": "MONDO:0009797", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009797", "name": "uridine monophosphate synthase deficiency", "description": "" }, { "id": "MIM:258900", "resource": "MIM", "url": "https://www.omim.org/entry/258900", "name": "Orotic aciduria 1", "description": "Orotic aciduria 1" } ], "evidence": [ { "id": "258900", "database": "MIM", "url": "https://www.omim.org/entry/258900" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 312, "end_pos": 312, "sequence_org": "D", "sequence_mut": "N", "comment": "Loss of OMPdecase activity.", "evidence": [ { "database": "UniProtKB", "id": "P11172", "url": "https://www.uniprot.org/uniprot/P11172" }, { "database": "PubMed", "id": "18184586", "url": "https://glygen.org/publication/PubMed/18184586" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "79.35", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000114491", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114491" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "80.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114491", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114491" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "82.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114491", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114491" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "69.78", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000114491", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114491" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "84.68", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114491", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114491" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "88.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114491", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114491" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "71.17", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000114491", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114491" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "81.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114491", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114491" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "82.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114491", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114491" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "68.99", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000114491", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114491" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "87.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114491", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114491" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "83.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114491", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114491" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "84.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114491", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114491" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P11172", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11172" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"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, 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"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 - 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"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", 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"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", 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P11172", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11172" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11172" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P11172", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11172" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P11172", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11172" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P11172", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11172" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P11172", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11172" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P11172", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11172" } ], "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": 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Classification" ] }, { "id": "IPR023031", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023031", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR029057", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029057", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:7372", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7372", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "258900", "url": "http://www.omim.org/entry/258900", "database": "MIM", "categories": [ "Other" ] }, { "id": "613891", "url": "http://www.omim.org/entry/613891", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P11172", "url": "https://www.nextprot.org/entry/NX_P11172", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P11172", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11172", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] 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"categories": [ "Protein Classification" ] }, { "id": "PF00215", "url": "http://pfam.xfam.org/family/PF00215", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P11172", "url": "https://pharos.nih.gov/targets/P11172", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P11172", "url": "http://purl.obolibrary.org/obo/PR_P11172", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-500753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-500753", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000364", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000364", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "10380", "url": "https://www.rhea-db.org/rhea/10380", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "11596", "url": "https://www.rhea-db.org/rhea/11596", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "E9PFD2", "url": "https://www.uniprot.org/uniprot/E9PFD2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PFD2-1", "url": "https://www.uniprot.org/uniprot/E9PFD2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F2Z303", "url": "https://www.uniprot.org/uniprot/F2Z303", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F2Z303-1", "url": "https://www.uniprot.org/uniprot/F2Z303-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F2Z3P2", "url": "https://www.uniprot.org/uniprot/F2Z3P2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F2Z3P2-1", "url": "https://www.uniprot.org/uniprot/F2Z3P2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WDG4", "url": "https://www.uniprot.org/uniprot/F8WDG4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WDG4-1", "url": "https://www.uniprot.org/uniprot/F8WDG4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11172", "url": "https://www.uniprot.org/uniprot/P11172", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11172-1", "url": "https://www.uniprot.org/uniprot/P11172-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11172-2", "url": "https://www.uniprot.org/uniprot/P11172-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11172-3", "url": "https://www.uniprot.org/uniprot/P11172-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11172-4", "url": "https://www.uniprot.org/uniprot/P11172-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAVARAALGPLVTGLYDVQAFKFGDFVLKSGLSSPIYIDLRGIVSRPRLLSQVADILFQTAQNAGISFDTVCGVPYTALPLATVICSTNQIPMLIRRKETKDYGTKRLVEGTINPGETCLIIEDVVTSGSSVLETVEVLQKEGLKVTDAIVLLDREQGGKDKLQAHGIRLHSVCTLSKMLEILEQQKKVDAETVGRVKRFIQENVFVAANHNGSPLSIKEAPKELSFGARAELPRIHPVASKLLRLMQKKETNLCLSADVSLARELLQLADALGPSICMLKTHVDILNDFTLDVMKELITLAKCHEFLIFEDRKFADIGNTVKKQYEGGIFKIASWADLVNAHVVPGSGVVKGLQEVGLPLHRGCLLIAEMSSTGSLATGDYTRAAVRMAEEHSEFVVGFISGSRVSMKPEFLHLTPGVQLEAGGDNLGQQYNSPQEVIGKRGSDIIIVGRGIISAADRLEAAEMYRKAAWEAYLSRLGV", "length": 480, "header": "sp|P11172-1|UMPS_HUMAN Isoform 1 of Uridine 5'-monophosphate synthase OS=Homo sapiens OX=9606 GN=UMPS PE=1 SV=1 CANONICAL=P11172-1" }, "isoforms": [ { "isoform_ac": "E9PFD2-1", "url": "", "sequence": { "sequence": "MAVARAALGPLVTGLYDVQAFKFGDFVLKSGLSSPIYIDLRGIVSRPRLLSQVADILFQTAQNAGISFDTVCGVPYTALPLATVICSTNQIPMLIRRKETKDYGTKRLVEGTINPGETCLIIEDVVTSGSSVLETVEVLQKEGLKVTDAIVLLDREQGGKDKLQAHGIRLHSVCTLSKMLEILEQQKKVDAETVGRVKRFIQENVFVAANHNGSPLSIKEAPKELSFGARAELPRIHPVASKLLRLMQKKETNLCLSADVSLARELLQLADALGPSICMLKTHVDILNDFTLDVMKELITLAKCHEFLIFEDRKFADIGNTVKKQYEGKCIIQESARIRNPA", "length": 342, "header": "tr|E9PFD2-1|UMPS_HUMAN Computationally mapped isoform of Uridine 5'-monophosphate synthase OS=Homo sapiens OX=9606 GN=UMPS PE=1 SV=1 CANONICAL=P11172-1" }, "locus": { "chromosome": "3", "start_pos": 124738283, "end_pos": 124730472, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000479719.5", "url": "https://www.ensembl.org/id/ENST00000479719.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000420754.1", "url": "https://www.ensembl.org/id/ENSP00000420754.1" } ] } }, { "isoform_ac": "F2Z303-1", "url": "", "sequence": { "sequence": "MAVARAALGPLVTGLYDVQAFKFGDFVLKSGLSSPIYIDLRGIVSRPRLLSQMGSLLRHPGWSAAL", "length": 66, "header": "tr|F2Z303-1|UMPS_HUMAN Computationally mapped isoform of Uridine 5'-monophosphate synthase OS=Homo sapiens OX=9606 GN=UMPS PE=1 SV=1 CANONICAL=P11172-1" }, "locus": { "chromosome": "3", "start_pos": 124731547, "end_pos": 124730472, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000467167.5", "url": "https://www.ensembl.org/id/ENST00000467167.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000419618.1", "url": "https://www.ensembl.org/id/ENSP00000419618.1" } ] } }, { "isoform_ac": "F2Z3P2-1", "url": "", "sequence": { "sequence": "MAVARAALGPLVTGLYDVQAFKFGDFVLKSGLSSPIYIDLRGIVSRPRLLSQELSVL", "length": 57, "header": "tr|F2Z3P2-1|UMPS_HUMAN Computationally mapped isoform of Uridine 5'-monophosphate synthase OS=Homo sapiens OX=9606 GN=UMPS PE=1 SV=1 CANONICAL=P11172-1" }, "locus": { "chromosome": "3", "start_pos": 124737582, "end_pos": 124730472, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000462091.5", "url": "https://www.ensembl.org/id/ENST00000462091.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000417893.1", "url": "https://www.ensembl.org/id/ENSP00000417893.1" } ] } }, { "isoform_ac": "F8WDG4-1", "url": "", "sequence": { "sequence": "MAVARAALGPLVTGLYDVQAFKFGDFVLKSGLSSPIYIDLRGIVSRPRLLSQVADILFQTAQNAGISFDTVCGVPYTALPLATVICSTNQIPMLIRRKETKDYGSTQRTQLRCTCRAAQDPPSCIEASQAYAKEGDQSVSIC", "length": 142, "header": "tr|F8WDG4-1|UMPS_HUMAN Computationally mapped isoform of Uridine 5'-monophosphate synthase OS=Homo sapiens OX=9606 GN=UMPS PE=1 SV=1 CANONICAL=P11172-1" }, "locus": { "chromosome": "3", "start_pos": 124738030, "end_pos": 124730472, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000474588.5", "url": "https://www.ensembl.org/id/ENST00000474588.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000420348.1", "url": "https://www.ensembl.org/id/ENSP00000420348.1" } ] } }, { "isoform_ac": "P11172-1", "url": "", "sequence": { "sequence": "MAVARAALGPLVTGLYDVQAFKFGDFVLKSGLSSPIYIDLRGIVSRPRLLSQVADILFQTAQNAGISFDTVCGVPYTALPLATVICSTNQIPMLIRRKETKDYGTKRLVEGTINPGETCLIIEDVVTSGSSVLETVEVLQKEGLKVTDAIVLLDREQGGKDKLQAHGIRLHSVCTLSKMLEILEQQKKVDAETVGRVKRFIQENVFVAANHNGSPLSIKEAPKELSFGARAELPRIHPVASKLLRLMQKKETNLCLSADVSLARELLQLADALGPSICMLKTHVDILNDFTLDVMKELITLAKCHEFLIFEDRKFADIGNTVKKQYEGGIFKIASWADLVNAHVVPGSGVVKGLQEVGLPLHRGCLLIAEMSSTGSLATGDYTRAAVRMAEEHSEFVVGFISGSRVSMKPEFLHLTPGVQLEAGGDNLGQQYNSPQEVIGKRGSDIIIVGRGIISAADRLEAAEMYRKAAWEAYLSRLGV", "length": 480, "header": "sp|P11172-1|UMPS_HUMAN Isoform 1 of Uridine 5'-monophosphate synthase OS=Homo sapiens OX=9606 GN=UMPS PE=1 SV=1 CANONICAL=P11172-1" }, "locus": { "chromosome": "3", "start_pos": 124744081, "end_pos": 124730472, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000232607.7", "url": "https://www.ensembl.org/id/ENST00000232607.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000232607.2", "url": "https://www.ensembl.org/id/ENSP00000232607.2" } ] } }, { "isoform_ac": "P11172-2", "url": "", "sequence": { "sequence": "MLEILEQQKKVDAETVGRVKRFIQENVFVAANHNGSPLSIKEAPKELSFGARAELPRIHPVASKLLRLMQKKETNLCLSADVSLARELLQLADALGPSICMLKTHVDILNDFTLDVMKELITLAKCHEFLIFEDRKFADIGNTVKKQYEGGIFKIASWADLVNAHVVPGSGVVKGLQEVGLPLHRGCLLIAEMSSTGSLATGDYTRAAVRMAEEHSEFVVGFISGSRVSMKPEFLHLTPGVQLEAGGDNLGQQYNSPQEVIGKRGSDIIIVGRGIISAADRLEAAEMYRKAAWEAYLSRLGV", "length": 302, "header": "sp|P11172-2|UMPS_HUMAN Isoform 2 of Uridine 5'-monophosphate synthase OS=Homo sapiens OX=9606 GN=UMPS PE=1 SV=1 CANONICAL=P11172-1" }, "locus": {} }, { "isoform_ac": "P11172-3", "url": "", "sequence": { "sequence": "MLIRRKETKDYGTKRLVEGTINPGETCLIIEDVVTSGSSVLETVEVLQKEGLKVTDAIVLLDREQGGKDKLQAHGIRLHSVCTLSKMLEILEQQKKVDAETVGRVKRFIQENVFVAANHNGSPLSIKEAPKELSFGARAELPRIHPVASKLLRLMQKKETNLCLSADVSLARELLQLADALGPSICMLKTHVDILNDFTLDVMKELITLAKCHEFLIFEDRKFADIGNTVKKQYEGGIFKIASWADLVNAHVVPGSGVVKGLQEVGLPLHRGCLLIAEMSSTGSLATGDYTRAAVRMAEEHSEFVVGFISGSRVSMKPEFLHLTPGVQLEAGGDNLGQQYNSPQEVIGKRGSDIIIVGRGIISAADRLEAAEMYRKAAWEAYLSRLGV", "length": 388, "header": "sp|P11172-3|UMPS_HUMAN Isoform 3 of Uridine 5'-monophosphate synthase OS=Homo sapiens OX=9606 GN=UMPS PE=1 SV=1 CANONICAL=P11172-1" }, "locus": {} }, { "isoform_ac": "P11172-4", "url": "", "sequence": { "sequence": "MLEILEQQKKVDAETVGRVKRFIQENVFVAANHNGSPLSIKEAPKELSFGARAELPRIHPVASKLLRLMQKKETNLCLSADVSLARELLQLADALGPSICMLKTHVDILNDFTLDVMKELITLAKCHEFLIFEDRKFADIGNTVKKQYEGDNLGQQYNSPQEVIGKRGSDIIIVGRGIISAADRLEAAEMYRKAAWEAYLSRLGV", "length": 205, "header": "sp|P11172-4|UMPS_HUMAN Isoform 4 of Uridine 5'-monophosphate synthase OS=Homo sapiens OX=9606 GN=UMPS PE=1 SV=1 CANONICAL=P11172-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P11172", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11172" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" } ] } ], "phosphorylation": [ { "start_pos": 214, "end_pos": 214, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P11172", "url": "https://www.uniprot.org/uniprot/P11172" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P11172", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11172" }, { "database": "phospho.ELM", "id": "P11172", "url": "http://phospho.elm.eu.org/byAccession/P11172.html" } ], "site_lbl": "Ser214" }, { "start_pos": 37, "end_pos": 37, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P11172", "url": "https://www.uniprot.org/uniprot/P11172" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P11172", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11172" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "phospho.ELM", "id": "P11172", "url": "http://phospho.elm.eu.org/byAccession/P11172.html" } ], "site_lbl": "Tyr37" }, { "start_pos": 444, "end_pos": 444, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11172", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11172" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser444" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Indirect inhibition of mitochondrial dihydroorotate dehydrogenase activity by nitric oxide.", "journal": "Free radical biology & medicine", "date": "2000", "authors": "Beuneu C, Auger R, Loffler M, Guissani A, Lemaire G, Lepoivre M", "evidence": [ { "database": "Reactome", "id": "R-HSA-500753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-500753" } ], "reference": [ { "type": "PubMed", "id": "10889450", "url": "https://glygen.org/publication/PubMed/10889450" } ] }, { "title": "Leflunomide: mode of action in the treatment of rheumatoid arthritis.", "journal": "Annals of the rheumatic diseases", "date": "2000", "authors": "Breedveld FC, Dayer JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-500753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-500753" } ], "reference": [ { "type": "PubMed", "id": "11053058", "url": "https://glygen.org/publication/PubMed/11053058" } ] }, { "title": "Enzymic synthesis and breakdown of a pyrimidine, orotic acid. I. Dihydro-orotic dehydrogenase.", "journal": "Biochimica et biophysica acta", "date": "1953", "authors": "LIEBERMAN I, KORNBERG A", "evidence": [ { "database": "Reactome", "id": "R-HSA-500753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-500753" } ], "reference": [ { "type": "PubMed", "id": "13115431", "url": "https://glygen.org/publication/PubMed/13115431" } ] }, { "title": "Superoxide production and electron transport in mitochondrial oxidation of dihydroorotic acid.", "journal": "The Journal of biological chemistry", "date": "1975", "authors": "Forman HJ, Kennedy J", "evidence": [ { "database": "Reactome", "id": "R-HSA-500753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-500753" } ], "reference": [ { "type": "PubMed", "id": "165196", "url": "https://glygen.org/publication/PubMed/165196" } ] }, { "title": "Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer.", "journal": "Cell", "date": "2007", "authors": "Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "P11172-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11172-1" } ], "reference": [ { "type": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ] }, { "title": "Structures of the human orotidine-5'-monophosphate decarboxylase support a covalent mechanism and provide a framework for drug design.", "journal": "Structure (London, England : 1993)", "date": "2008", "authors": "Wittmann JG, Heinrich D, Gasow K, Frey A, Diederichsen U, Rudolph MG", "evidence": [ { "database": "UniProtKB", "id": "P11172", "url": "https://www.uniprot.org/uniprot/P11172" }, { "database": "Reactome", "id": "R-HSA-500753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-500753" } ], "reference": [ { "type": "PubMed", "id": "18184586", "url": "https://glygen.org/publication/PubMed/18184586" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "P11172", "url": "https://www.uniprot.org/uniprot/P11172" }, { "database": "iPTMnet", "id": "P11172-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11172-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P11172", "url": "https://www.uniprot.org/uniprot/P11172" }, { "database": "iPTMnet", "id": "P11172-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11172-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Teriflunomide, an inhibitor of dihydroorotate dehydrogenase for the potential oral treatment of multiple sclerosis.", "journal": "Current opinion in investigational drugs (London, England : 2000)", "date": "2010", "authors": "Palmer AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-500753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-500753" } ], "reference": [ { "type": "PubMed", "id": "21157651", "url": "https://glygen.org/publication/PubMed/21157651" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "P11172", "url": "https://www.uniprot.org/uniprot/P11172" }, { "database": "iPTMnet", "id": "P11172", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11172" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Molecular cloning of human UMP synthase.", "journal": "Adv. Exp. Med. Biol.", "date": "1989", "authors": "Suchi M, Harada N, Tsuboi T, Asai K, Okajima K, Wada Y, Takagi Y", "evidence": [ { "database": "UniProtKB", "id": "P11172", "url": "https://www.uniprot.org/uniprot/P11172" } ], "reference": [ { "type": "PubMed", "id": "2624233", "url": "https://glygen.org/publication/PubMed/2624233" } ] }, { "title": "Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.", "journal": "Cell", "date": "2016", "authors": "Yang Xinping, Coulombe-Huntington Jasmin, Kang Shuli, Sheynkman Gloria M, Hao Tong, Richardson Aaron, Sun Song, Yang Fan, Shen Yun A, Murray Ryan R, Spirohn Kerstin, Begg Bridget E, Duran-Frigola Miquel, MacWilliams Andrew, Pevzner Samuel J, Zhong Quan, Trigg Shelly A, Tam Stanley, Ghamsari Lila, Sahni Nidhi, Yi Song, Rodriguez Maria D, Balcha Dawit, Tan Guihong, Costanzo Michael, Andrews Brenda, Boone Charles, Zhou Xianghong J, Salehi-Ashtiani Kourosh, Charloteaux Benoit, Chen Alyce A, Calderwood Michael A, Aloy Patrick, Roth Frederick P, Hill David E, Iakoucheva Lilia M, Xia Yu, Vidal Marc", "evidence": [ { "database": "UniProtKB", "id": "F2Z303", "url": "https://www.uniprot.org/uniprot/F2Z303" } ], "reference": [ { "type": "PubMed", "id": "26871637", "url": "https://glygen.org/publication/PubMed/26871637" } ] }, { "title": "Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.", "journal": "Journal of inherited metabolic disease", "date": "2017", "authors": "Wortmann SB, Chen MA, Colombo R, Pontoglio A, Alhaddad B, Botto LD, Yuzyuk T, Coughlin CR, Descartes M, Grunewald S, Maranda B, Mills PB, Pitt J, Potente C, Rodenburg R, Kluijtmans LA, Sampath S, Pai EF, Wevers RA, Tiller GE", "evidence": [ { "database": "RefSeq", "id": "NP_000364", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000364" } ], "reference": [ { "type": "PubMed", "id": "28205048", "url": "https://glygen.org/publication/PubMed/28205048" } ] }, { "title": "A phase II study of preoperative chemoradiation with tegafur-uracil plus leucovorin for locally advanced rectal cancer with pharmacogenetic analysis.", "journal": "Radiation oncology (London, England)", "date": "2017", "authors": "Kim SY, Baek JY, Oh JH, Park SC, Sohn DK, Kim MJ, Chang HJ, Kong SY, Kim DY", "evidence": [ { "database": "RefSeq", "id": "NP_000364", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000364" } ], "reference": [ { "type": "PubMed", "id": "28347333", "url": "https://glygen.org/publication/PubMed/28347333" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P11172", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11172" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Oligomeric structure of the multifunctional protein CAD that initiates pyrimidine biosynthesis in mammalian cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1985", "authors": "Lee L, Kelly RE, Pastra-Landis SC, Evans DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-500753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-500753" } ], "reference": [ { "type": "PubMed", "id": "2995985", "url": "https://glygen.org/publication/PubMed/2995985" } ] }, { "title": "LncRNA SNORD3A specifically sensitizes breast cancer cells to 5-FU by sponging miR-185-5p to enhance UMPS expression.", "journal": "Cell death & disease", "date": "2020", "authors": "Luo L, Zhang J, Tang H, Zhai D, Huang D, Ling L, Wang X, Liu T, Zhang Q, Zhang Z, He Z, Zheng G", "evidence": [ { "database": "RefSeq", "id": "NP_000364", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000364" } ], "reference": [ { "type": "PubMed", "id": "32382150", "url": "https://glygen.org/publication/PubMed/32382150" } ] }, { "title": "COVID-19 in teriflunomide-treated patients with multiple sclerosis.", "journal": "Journal of neurology", "date": "2020", "authors": "Maghzi AH, Houtchens MK, Preziosa P, Ionete C, Beretich BD, Stankiewicz JM, Tauhid S, Cabot A, Berriosmorales I, Schwartz THW, Sloane JA, Freedman MS, Filippi M, Weiner HL, Bakshi R", "evidence": [ { "database": "Reactome", "id": "R-HSA-500753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-500753" } ], "reference": [ { "type": "PubMed", "id": "32494856", "url": "https://glygen.org/publication/PubMed/32494856" } ] }, { "title": "A Small-Scale Medication of Leflunomide as a Treatment of COVID-19 in an Open-Label Blank-Controlled Clinical Trial.", "journal": "Virologica Sinica", "date": "2020", "authors": "Hu K, Wang M, Zhao Y, Zhang Y, Wang T, Zheng Z, Li X, Zeng S, Zhao D, Li H, Xu K, Lan K", "evidence": [ { "database": "Reactome", "id": "R-HSA-500753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-500753" } ], "reference": [ { "type": "PubMed", "id": "32696396", "url": "https://glygen.org/publication/PubMed/32696396" } ] }, { "title": "Dihydroorotate dehydrogenase inhibitors in SARS-CoV-2 infection.", "journal": "European journal of clinical investigation", "date": "2020", "authors": "Coelho AR, Oliveira PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-500753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-500753" } ], "reference": [ { "type": "PubMed", "id": "32735689", "url": "https://glygen.org/publication/PubMed/32735689" } ] }, { "title": "Novel and potent inhibitors targeting DHODH are broad-spectrum antivirals against RNA viruses including newly-emerged coronavirus SARS-CoV-2.", "journal": "Protein & cell", "date": "2020", "authors": "Xiong R, Zhang L, Li S, Sun Y, Ding M, Wang Y, Zhao Y, Wu Y, Shang W, Jiang X, Shan J, Shen Z, Tong Y, Xu L, Chen Y, Liu Y, Zou G, Lavillete D, Zhao Z, Wang R, Zhu L, Xiao G, Lan K, Li H, Xu K", "evidence": [ { "database": "Reactome", "id": "R-HSA-500753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-500753" } ], "reference": [ { "type": "PubMed", "id": "32754890", "url": "https://glygen.org/publication/PubMed/32754890" } ] }, { "title": "Molecular cloning and nucleotide sequence for the complete coding region of human UMP synthase.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1988", "authors": "Suttle D P, Bugg B Y, Winkler J K, Kanalas J J", "evidence": [ { "database": "UniProtKB", "id": "P11172", "url": "https://www.uniprot.org/uniprot/P11172" } ], "reference": [ { "type": "PubMed", "id": "3279416", "url": "https://glygen.org/publication/PubMed/3279416" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P11172", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11172" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "Human uridine 5'-monophosphate synthase stores metabolic potential in inactive biomolecular condensates.", "journal": "The Journal of biological chemistry", "date": "2023-03", "authors": "Kim-Holzapfel Deborah M, Dey Raja, Richardson Brian C, Arachchige Danushka, Reddy Kanamata, De Vitto Humberto, Bhandari Janarjan, French Jarrod B", "evidence": [ { "database": "RefSeq", "id": "NP_000364", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000364" } ], "reference": [ { "type": "PubMed", "id": "36708921", "url": "https://glygen.org/publication/PubMed/36708921" } ] }, { "title": "Control of pyrimidine biosynthesis in human lymphocytes. Simultaneous increase in activities of glutamine-utilizing carbamyl phosphate synthetase and aspartate transcarbamylase in phytohemagglutinin-stimulated human peripheral lymphocytes and their enzyme co-purification.", "journal": "The Journal of biological chemistry", "date": "1973", "authors": "Ito K, Uchino H", "evidence": [ { "database": "Reactome", "id": "R-HSA-500753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-500753" } ], "reference": [ { "type": "PubMed", "id": "4684686", "url": "https://glygen.org/publication/PubMed/4684686" } ] }, { "title": "Pyrimidine nucleotide biosynthesis in animals: genes, enzymes, and regulation of UMP biosynthesis.", "journal": "Annual review of biochemistry", "date": "1980", "authors": "Jones ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-500753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-500753" } ], "reference": [ { "type": "PubMed", "id": "6105839", "url": "https://glygen.org/publication/PubMed/6105839" } ] }, { "title": "Isolation and initial characterization of the single polypeptide that synthesizes uridine 5'-monophosphate from orotate in Ehrlich ascites carcinoma. Purification by tandem affinity chromatography of uridine-5'-monophosphate synthase.", "journal": "Biochemistry", "date": "1980", "authors": "McClard RW, Black MJ, Livingstone LR, Jones ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-500753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-500753" } ], "reference": [ { "type": "PubMed", "id": "6893554", "url": "https://glygen.org/publication/PubMed/6893554" } ] }, { "title": "The immunosuppressive metabolite of leflunomide is a potent inhibitor of human dihydroorotate dehydrogenase.", "journal": "Biochemistry", "date": "1996", "authors": "Davis JP, Cain GA, Pitts WJ, Magolda RL, Copeland RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-500753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-500753" } ], "reference": [ { "type": "PubMed", "id": "8573583", "url": "https://glygen.org/publication/PubMed/8573583" } ] }, { "title": "Molecular cloning of a human cDNA encoding a trifunctional enzyme of carbamoyl-phosphate synthetase-aspartate transcarbamoylase-dihydroorotase in de Novo pyrimidine synthesis.", "journal": "Biochemical and biophysical research communications", "date": "1996", "authors": "Iwahana H, Fujimura M, Ii S, Kondo M, Moritani M, Takahashi Y, Yamaoka T, Yoshimoto K, Itakura M", "evidence": [ { "database": "Reactome", "id": "R-HSA-500753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-500753" } ], "reference": [ { "type": "PubMed", "id": "8619816", "url": "https://glygen.org/publication/PubMed/8619816" } ] }, { "title": "Intrinsic activity and stability of bifunctional human UMP synthase and its two separate catalytic domains, orotate phosphoribosyltransferase and orotidine-5'-phosphate decarboxylase.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Yablonski MJ, Pasek DA, Han BD, Jones ME, Traut TW", "evidence": [ { "database": "Reactome", "id": "R-HSA-500753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-500753" } ], "reference": [ { "type": "PubMed", "id": "8631878", "url": "https://glygen.org/publication/PubMed/8631878" } ] }, { "title": "Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families.", "journal": "American journal of human genetics", "date": "1997", "authors": "Suchi M, Mizuno H, Kawai Y, Tsuboi T, Sumi S, Okajima K, Hodgson ME, Ogawa H, Wada Y", "evidence": [ { "database": "UniProtKB", "id": "P11172", "url": "https://www.uniprot.org/uniprot/P11172" }, { "database": "Reactome", "id": "R-HSA-500753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-500753" } ], "reference": [ { "type": "PubMed", "id": "9042911", "url": "https://glygen.org/publication/PubMed/9042911" } ] }, { "title": "Expression, purification, and characterization of histidine-tagged rat and human flavoenzyme dihydroorotate dehydrogenase.", "journal": "Protein expression and purification", "date": "1998", "authors": "Bader B, Knecht W, Fries M, Loffler M", "evidence": [ { "database": "Reactome", "id": "R-HSA-500753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-500753" } ], "reference": [ { "type": "PubMed", "id": "9693067", "url": "https://glygen.org/publication/PubMed/9693067" } ] } ], "pathway": [ { "id": "hsa:7372", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7372", "resource": "KEGG Pathway" }, { "id": "R-HSA-500753", "name": "Pyrimidine biosynthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-500753", "resource": "Reactome", "description": "Pyrimidine biosynthesis" } ], "orthologs": [ { "uniprot_canonical_ac": "A6IRJ8-1", "protein_name": "Uridine 5'-monophosphate synthase", "gene_name": "Umps", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MEVARQALGPLVTELYDVQAFKFGSFVLKSGLSSPVYIDLRGIVSRPRLLSQVADILFQTARNAGISFDSVCGVPYTALPLATVICSANHIPMLIRRKETKDYGTKRLVEGEINPGQTCLVIEDVVTSGASVLETVEVLQKEGLKVTDAIVLLDREQGGKDKLQAQGIRLHSVCTLSEMLEILEQQKKIDAEMVGRVKRFIQENVFTAANHNGVPPPEKKACKELSFGARAELPGVHPLASKLLTLMQKKETNLCLSADVSEARELLQLADALGPSICMLKTHVDILNDFTLDVMEELTTLAKRHEFLIFEDRKFADIGNTVKKQYESGIFKIASWADVVNAHVVPGSGVVKGLQEVGLPLHRACLLIAEMSSAGSLATGDYTKAAVGMAEEHCEFVIGFISGSRVSMKPEFLHLTPGVQLETGGDHLGQQYNSPQEVVGKRGSDVIIVGRGILAAANRLEAAEMYRKAAWEAYLSRLAVQ", "length": 481 }, "evidence": [ { "id": "45925172", "url": "http://www.informatics.jax.org/homology/45925172", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P13439-1", "protein_name": "Uridine 5'-monophosphate synthase", "gene_name": "Umps", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MEVASQALGPLVTELYDVQAFKFGSFVLKSGLSSPVYIDLRGIVSRPRLLSQVADILFQTAKNAGISFDSVCGVPYTALPLATVICSANHIPMLIRRKETKDYGTKRLVEGEINPGQTCLVIEDVVTSGASVLETVEVLQKEGLKVTDAIVLLDREQGGKDKLQAQGIRLHAVCTLSQMLEILQQQEKIDADMVGRVKRFIQENVFSAANHNGLPPPEKKACKELSFGARAELPGTHPLASKLLRLMQKKETNLCLSADVSEARELLQLADALGPSICMLKTHVDILNDFTLDVMEELTALAKRHEFLIFEDRKFADIGNTVKKQYESGTFKIASWADIVNAHVVPGSGVVKGLQEVGLPLHRACLLIAEMSSAGSLATGNYTKAAVGMAEEHCEFVIGFISGSRVSMKPEFLHLTPGVQLETGGDHLGQQYNSPQEVIGKRGSDVIIVGRGILAAANRLEAAEMYRKAAWEAYLSRLAVQ", "length": 481 }, "evidence": [ { "id": "45925172", "url": "http://www.informatics.jax.org/homology/45925172", "database": "MGI" }, { "id": "P11172", "url": "https://omabrowser.org/oma/group/P11172/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q01637-1", "protein_name": "Uridine 5'-monophosphate synthase", "gene_name": "r-l", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MVAQNSDKMRALALKLFEINAFKFGDFKMKVGINSPVYFDLRVIVSYPDVMQTVSDLLVEHIKDKQLSAKHVCGVPYTALPLATIVSVQQGTPMLVRRKEAKAYGTKKLVEGIFNAGDTCLIVEDVVTSGSSILDTVRDLQGEGIVVTDAVVVVDREQGGVANIAKHGVRMHSLFTLSFLLNTLHEAGRIEKSTVEAVAKYIAAVQINSDGTFVGGDKGDVVRANDLQRTKLTYENRANLAKSAVAKRLFNLIASKQTNLCLAADLTHADEILDVADKCGPYICLLKTHVDIVEDFSDKFIADLQALAQRHNFLLMEDRKFADIGNTVSLQYGKGIYKISSWADLVTAHTLPGRSILQGLKAGLGEGGAGKERGVFLLAEMSASGNLIDAKYKENSNKIATEGADVDFVAGVVCQSSDAFAFPGLLQLTPGVKIDEGVDQLGQQYQSPEHVVKERGADIGVVGRGILKASSPKQAAQTYRDRLWAAYQDRVAK", "length": 493 }, "evidence": [ { "id": "P11172", "url": "https://omabrowser.org/oma/group/P11172/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P11172", "url": "https://www.uniprot.org/uniprot/P11172" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P11172", "url": "https://www.uniprot.org/uniprot/P11172" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P11172", "url": "https://www.uniprot.org/uniprot/P11172" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P11172", "url": "https://www.uniprot.org/uniprot/P11172" } ], "pmid": "" }, { "name": "orotate phosphoribosyltransferase activity", "id": "GO:0004588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004588", "evidence": [ { "database": "UniProtKB", "id": "P11172", "url": "https://www.uniprot.org/uniprot/P11172" } ], "pmid": "" }, { "name": "orotidine-5'-phosphate decarboxylase activity", "id": "GO:0004590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004590", "evidence": [ { "database": "UniProtKB", "id": "P11172", "url": "https://www.uniprot.org/uniprot/P11172" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 8, "go_terms": [ { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "P11172", "url": "https://www.uniprot.org/uniprot/P11172" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "P11172", "url": "https://www.uniprot.org/uniprot/P11172" } ], "pmid": "" }, { "name": "lactation", "id": "GO:0007595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007595", "evidence": [ { "database": "UniProtKB", "id": "P11172", "url": "https://www.uniprot.org/uniprot/P11172" } ], "pmid": "" }, { "name": "UMP biosynthetic process", "id": "GO:0006222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006222", "evidence": [ { "database": "UniProtKB", "id": "P11172", "url": "https://www.uniprot.org/uniprot/P11172" } ], "pmid": "" }, { "name": "'de novo' pyrimidine nucleobase biosynthetic process", "id": "GO:0006207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006207", "evidence": [ { "database": "UniProtKB", "id": "P11172", "url": "https://www.uniprot.org/uniprot/P11172" } ], "pmid": "" }, { "name": "'de novo' UMP biosynthetic process", "id": "GO:0044205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044205", "evidence": [ { "database": "UniProtKB", "id": "P11172", "url": "https://www.uniprot.org/uniprot/P11172" } ], "pmid": "" }, { "name": "pyrimidine nucleobase biosynthetic process", "id": "GO:0019856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019856", "evidence": [ { "database": "UniProtKB", "id": "P11172", "url": "https://www.uniprot.org/uniprot/P11172" } ], "pmid": "" }, { "name": "UDP biosynthetic process", "id": "GO:0006225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006225", "evidence": [ { "database": "UniProtKB", "id": "P11172", "url": "https://www.uniprot.org/uniprot/P11172" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 212, "end_pos": 214, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "10380", "name": "", "equation": "diphosphate + orotidine 5'-phosphate = 5-phospho-alpha-D-ribose 1-diphosphate + orotate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11172-1", "P13439-1", "P13298-1", "P30402-1", "P09556-1", "Q01637-1" ], "evidence": [ { "id": "10380", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/10380" } ] }, { "id": "11596", "name": "", "equation": "H(+) + orotidine 5'-phosphate = CO2 + UMP", 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"UniProtKB", "url": "https://www.uniprot.org/uniprot/P09556" } ] }, { "ec_number": "4.1.1.23", "activity": "H(+) + orotidine 5'-phosphate = CO2 + UMP.", "evidence": [ { "id": "P09556", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09556" } ] } ] }, { "uniprot_ac": "P11172", "gene_name": "UMPS", "activity": [ { "ec_number": "2.4.2.10", "activity": "diphosphate + orotidine 5'-phosphate = 5-phospho-alpha-D-ribose 1-diphosphate + orotate.", "evidence": [ { "id": "P11172", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11172" } ] }, { "ec_number": "4.1.1.23", "activity": "H(+) + orotidine 5'-phosphate = CO2 + UMP.", "evidence": [ { "id": "P11172", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11172" } ] } ] }, { "uniprot_ac": "P13298", "gene_name": "URA5", "activity": [ { "ec_number": "2.4.2.10", "activity": "diphosphate + orotidine 5'-phosphate = 5-phospho-alpha-D-ribose 1-diphosphate + orotate.", "evidence": [ { "id": "P13298", 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