{ "uniprot_canonical_ac": "O95045-1", "uniprot_ac": "O95045", "uniprot_id": "UPP2_HUMAN", "mass": { "chemical_mass": 35527.0, "monoisotopic_mass": 35527.0 }, "refseq": { "ac": "NP_001128570", "name": "uridine phosphorylase 2 isoform b", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128570" }, "gene_names": [ { "name": "UPP2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95045", "id": "O95045" }, { "name": "UDRPASE2; UP2; UPASE2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128570", "id": "NP_001128570" }, { "name": "UPP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128570", "id": "NP_001128570" } ], "protein_names": [ { "name": "Uridine phosphorylase 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95045" }, { "name": "2.4.2.3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95045" }, { "name": "UPase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95045" }, { "name": "UrdPase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95045" }, { "name": "liver-specific uridine phosphorylase; UPase 2; urdPase 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128570", "id": "NP_001128570" }, { "name": "uridine phosphorylase 2 isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128570", "id": "NP_001128570" } ], "function": [ { "annotation": "A novel structural mechanism for redox regulation of uridine phosphorylase 2 activity", "evidence": [ { "database": "RefSeq", "id": "NP_001128570", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128570" }, { "database": "PubMed", "id": "21855639", "url": "https://glygen.org/publication/PubMed/21855639" } ] }, { "annotation": "Catalyzes the reversible phosphorylytic cleavage of uridine to uracil and ribose-1-phosphate which can then be utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis (PubMed:12849978, PubMed:21855639). Shows broad substrate specificity and can also accept deoxyuridine and other analogous compounds (PubMed:12849978).", "evidence": [ { "database": "UniProtKB", "id": "O95045", "url": "https://www.uniprot.org/uniprot/O95045#function" }, { "database": "PubMed", "id": "21855639", "url": "https://glygen.org/publication/PubMed/21855639" }, { "database": "PubMed", "id": "12849978", "url": "https://glygen.org/publication/PubMed/12849978" } ] }, { "annotation": "Identification of the novel human uridine phosphorylase, UDPase 2, with broad substrate specificity; UPase-2 gene was mapped to chromosome 2q24.1 and the 2.2-kb mRNA was predominantly expressed in kidney", "evidence": [ { "database": "RefSeq", "id": "NP_001128570", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128570" }, { "database": "PubMed", "id": "12849978", "url": "https://glygen.org/publication/PubMed/12849978" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001128570", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128570" }, { "database": "PubMed", "id": "19401682", "url": "https://glygen.org/publication/PubMed/19401682" } ] }, { "annotation": "This study demonistrated that use joint test to identified that UPP2 association to Autism Spectrum Disorder.", "evidence": [ { "database": "RefSeq", "id": "NP_001128570", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128570" }, { "database": "PubMed", "id": "21151189", "url": "https://glygen.org/publication/PubMed/21151189" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "83.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000007001", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000007001" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000007001", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000007001" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "16.41", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000007001", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000007001" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "44.49", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000007001", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000007001" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "38.06", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000007001", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000007001" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "42.43", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000007001", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000007001" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "49.46", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000007001", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000007001" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "77.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000007001", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000007001" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "41.1", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000007001", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000007001" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "47.62", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000007001", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000007001" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95045", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95045" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95045" } ], "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": [ 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"journal": "The Journal of biological chemistry", "date": "2003", "authors": "Bianchi V, Spychala J", "evidence": [ { "database": "Reactome", "id": "R-HSA-73621", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73621" } ], "reference": [ { "type": "PubMed", "id": "12947102", "url": "https://glygen.org/publication/PubMed/12947102" } ] }, { "title": "Nucleotide specificity of human deoxycytidine kinase.", "journal": "Molecular pharmacology", "date": "1992", "authors": "Shewach DS, Reynolds KK, Hertel L", "evidence": [ { "database": "Reactome", "id": "R-HSA-73614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73614" } ], "reference": [ { "type": "PubMed", "id": "1406603", "url": "https://glygen.org/publication/PubMed/1406603" } ] }, { "title": "Substrate specificity and phosphorylation of antiviral and anticancer nucleoside analogues by human deoxyribonucleoside kinases and ribonucleoside kinases.", "journal": "Pharmacology & therapeutics", "date": "2003", "authors": "Van Rompay AR, Johansson M, Karlsson A", "evidence": [ { "database": "Reactome", "id": "R-HSA-73614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73614" } ], "reference": [ { "type": "PubMed", "id": "14609716", "url": "https://glygen.org/publication/PubMed/14609716" } ] }, { "title": "Crystal structure of human thymidine phosphorylase in complex with a small molecule inhibitor.", "journal": "Structure (London, England : 1993)", "date": "2004", "authors": "Norman RA, Barry ST, Bate M, Breed J, Colls JG, Ernill RJ, Luke RW, Minshull CA, McAlister MS, McCall EJ, McMiken HH, Paterson DS, Timms D, Tucker JA, Pauptit RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-73621", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73621" } ], "reference": [ { "type": "PubMed", "id": "14725767", "url": "https://glygen.org/publication/PubMed/14725767" } ] }, { "title": "Structural basis for the specificity, catalysis, and regulation of human uridine-cytidine kinase.", "journal": "Structure (London, England : 1993)", "date": "2004", "authors": "Suzuki NN, Koizumi K, Fukushima M, Matsuda A, Inagaki F", "evidence": [ { "database": "Reactome", "id": "R-HSA-73614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73614" } ], "reference": [ { "type": "PubMed", "id": "15130468", "url": "https://glygen.org/publication/PubMed/15130468" } ] }, { "title": "beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.", "journal": "Human molecular genetics", "date": "2004", "authors": "van Kuilenburg AB, Meinsma R, Beke E, Assmann B, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NG, van Cruchten A, Stroomer AE, van Lenthe H, Zoetekouw L, Kulik W, Hoffmann GF, Voit T, Wevers RA, Rutsch F, van Gennip AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-73621", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73621" } ], "reference": [ { "type": "PubMed", "id": "15385443", "url": 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phosphorylase activity.", "journal": "Biochemical and biophysical research communications", "date": "1992", "authors": "Usuki K, Saras J, Waltenberger J, Miyazono K, Pierce G, Thomason A, Heldin CH", "evidence": [ { "database": "Reactome", "id": "R-HSA-73621", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73621" } ], "reference": [ { "type": "PubMed", "id": "1590793", "url": "https://glygen.org/publication/PubMed/1590793" } ] }, { "title": "Mammalian thymidine kinase 2. 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therapeutic window of fluoropyrimidine chemotherapy.", "journal": "BMC structural biology", "date": "2009", "authors": "Roosild TP, Castronovo S, Fabbiani M, Pizzorno G", "evidence": [ { "database": "Reactome", "id": "R-HSA-73614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73614" } ], "reference": [ { "type": "PubMed", "id": "19291308", "url": "https://glygen.org/publication/PubMed/19291308" } ] }, { "title": "High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.", "journal": "Molecular psychiatry", "date": "2010", "authors": "Maestrini E, Pagnamenta AT, Lamb JA, Bacchelli E, Sykes NH, Sousa I, Toma C, Barnby G, Butler H, Winchester L, Scerri TS, Minopoli F, Reichert J, Cai G, Buxbaum JD, Korvatska O, Schellenberg GD, Dawson G, de Bildt A, Minderaa RB, Mulder EJ, Morris AP, Bailey AJ, Monaco AP", "evidence": [ { "database": "RefSeq", "id": "NP_001128570", "url": 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"evidence": [ { "database": "Reactome", "id": "R-HSA-73614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73614" } ], "reference": [ { "type": "PubMed", "id": "2026611", "url": "https://glygen.org/publication/PubMed/2026611" } ] }, { "title": "HDHD1, which is often deleted in X-linked ichthyosis, encodes a pseudouridine-5'-phosphatase.", "journal": "The Biochemical journal", "date": "2010", "authors": "Preumont A, Rzem R, Vertommen D, Van Schaftingen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-73614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73614" } ], "reference": [ { "type": "PubMed", "id": "20722631", "url": "https://glygen.org/publication/PubMed/20722631" } ] }, { "title": "Allowing for sex differences increases power in a GWAS of multiplex Autism families.", "journal": "Molecular psychiatry", "date": "2012", "authors": "Lu AT, Cantor RM", "evidence": [ { "database": "RefSeq", "id": "NP_001128570", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128570" } ], "reference": [ { "type": "PubMed", "id": "21151189", "url": "https://glygen.org/publication/PubMed/21151189" } ] }, { "title": "Primary structure of human placental 5'-nucleotidase and identification of the glycolipid anchor in the mature form.", "journal": "European journal of biochemistry", "date": "1990", "authors": "Misumi Y, Ogata S, Ohkubo K, Hirose S, Ikehara Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-73621", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73621" } ], "reference": [ { "type": "PubMed", "id": "2129526", "url": "https://glygen.org/publication/PubMed/2129526" } ] }, { "title": "Cytoplasmic 5'(3')-nucleotidase from human placenta.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Hoglund L, Reichard P", "evidence": [ { "database": "Reactome", "id": "R-HSA-73621", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73621" } ], "reference": [ { "type": 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"reference": [ { "type": "PubMed", "id": "2344353", "url": "https://glygen.org/publication/PubMed/2344353" } ] }, { "title": "Human T-lymphoblast deoxycytidine kinase: purification and properties.", "journal": "Biochemistry", "date": "1989", "authors": "Datta NS, Shewach DS, Hurley MC, Mitchell BS, Fox IH", "evidence": [ { "database": "Reactome", "id": "R-HSA-73614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73614" } ], "reference": [ { "type": "PubMed", "id": "2539852", "url": "https://glygen.org/publication/PubMed/2539852" } ] }, { "title": "Kinetic properties and inhibition of human T lymphoblast deoxycytidine kinase.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Datta NS, Shewach DS, Mitchell BS, Fox IH", "evidence": [ { "database": "Reactome", "id": "R-HSA-73614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73614" } ], "reference": [ { "type": "PubMed", "id": "2542307", "url": "https://glygen.org/publication/PubMed/2542307" } ] }, { "title": "Regulation of purine deoxynucleoside phosphorylation by deoxycytidine kinase from human leukemic blast cells.", "journal": "Biochemical pharmacology", "date": "1989", "authors": "Sarup JC, Johnson MA, Verhoef V, Fridland A", "evidence": [ { "database": "Reactome", "id": "R-HSA-73614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73614" } ], "reference": [ { "type": "PubMed", "id": "2548513", "url": "https://glygen.org/publication/PubMed/2548513" } ] }, { "title": "Distribution of ecto-5'-nucleotidase on subsets of human T and B lymphocytes as detected by indirect immunofluorescence using goat antibodies.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1987", "authors": "Thompson LF, Ruedi JM, Low MG, Clement LT", "evidence": [ { "database": "Reactome", "id": "R-HSA-73621", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73621" } ], "reference": [ { "type": "PubMed", "id": "2826576", "url": "https://glygen.org/publication/PubMed/2826576" } ] }, { "title": "Deoxycytidine kinase from human leukemic spleen: preparation and characteristics of homogeneous enzyme.", "journal": "Biochemistry", "date": "1988", "authors": "Bohman C, Eriksson S", "evidence": [ { "database": "Reactome", "id": "R-HSA-73614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73614" } ], "reference": [ { "type": "PubMed", "id": "2844225", "url": "https://glygen.org/publication/PubMed/2844225" } ] }, { "title": "Human cytosolic thymidine kinase. 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"1993", "authors": "Munch-Petersen B, Tyrsted G, Cloos L", "evidence": [ { "database": "Reactome", "id": "R-HSA-73614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73614" } ], "reference": [ { "type": "PubMed", "id": "8340387", "url": "https://glygen.org/publication/PubMed/8340387" } ] }, { "title": "Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene.", "journal": "American journal of human genetics", "date": "1998", "authors": "Hamajima N, Kouwaki M, Vreken P, Matsuda K, Sumi S, Imaeda M, Ohba S, Kidouchi K, Nonaka M, Sasaki M, Tamaki N, Endo Y, De Abreu R, Rotteveel J, van Kuilenburg A, van Gennip A, Togari H, Wada Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-73621", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73621" } ], "reference": [ { "type": "PubMed", "id": "9718352", "url": "https://glygen.org/publication/PubMed/9718352" } ] }, { "title": "The 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"equation": "phosphate + uridine = alpha-D-ribose 1-phosphate + uracil", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "D4A9N9-1", "F7F0D5-1", "Q16831-1", "O95045-1", "P52624-1", "Q8CGR7-1", "Q8T8S2-1" ], "evidence": [ { "id": "24388", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/24388" } ] }, { "id": "R-HSA-74372", "name": "uracil + (deoxy)ribose 1-phosphate <=> (deoxy)uridine + orthophosphate [UPP]", "equation": "", "summary": "Cytosolic uridine phosphorylase (isoforms UPP1 and UPP2) catalyzes the reversible reactions of uracil with ribose 1-phosphate or deoxyribose 1-phosphate to yield uridine or deoxyuridine and orthophosphate (Watanabe and Uchida 1995; Johansson, 2003). 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The active form of UPP1 is a dimer (Rooslid et al. 2009).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q16831-1", "O95045-1" ], "evidence": [ { "id": "R-HSA-74376", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74376" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "D4A9N9", "gene_name": "Upp2", "activity": [ { "ec_number": "2.4.2.3", "activity": "phosphate + uridine = alpha-D-ribose 1-phosphate + uracil.", "evidence": [ { "id": "D4A9N9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A9N9" } ] }, { "ec_number": "2.4.2.3", "activity": "", "evidence": [ { "id": "D4A9N9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A9N9" } ] } ] }, { "uniprot_ac": "F7F0D5", "gene_name": "Upp1", "activity": [ { "ec_number": "2.4.2.3", "activity": "phosphate + uridine = alpha-D-ribose 1-phosphate + uracil.", "evidence": [ { "id": 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