{ "uniprot_canonical_ac": "O75469-1", "uniprot_ac": "O75469", "uniprot_id": "NR1I2_HUMAN", "mass": { "chemical_mass": 49762.0, "monoisotopic_mass": 49762.0 }, "refseq": { "ac": "NP_003880", "name": "nuclear receptor subfamily 1 group I member 2 isoform 1", "summary": "This gene product belongs to the nuclear receptor superfamily, members of which are transcription factors characterized by a ligand-binding domain and a DNA-binding domain. The encoded protein is a transcriptional regulator of the cytochrome P450 gene CYP3A4, binding to the response element of the CYP3A4 promoter as a heterodimer with the 9-cis retinoic acid receptor RXR. It is activated by a range of compounds that induce CYP3A4, including dexamethasone and rifampicin. Several alternatively spliced transcripts encoding different isoforms, some of which use non-AUG (CUG) translation initiation codon, have been described for this gene. Additional transcript variants exist, however, they have not been fully characterized. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003880" }, "gene_names": [ { "name": "NR1I2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75469", "id": "O75469" }, { "name": "BXR; ONR1; PAR; PAR1; PAR2; PARq; PRR; PXR; SAR; SXR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003880", "id": "NP_003880" }, { "name": "NR1I2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003880", "id": "NP_003880" }, { "name": "PXR", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75469", "id": "O75469" }, { "name": "hCG_21777", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75469", "id": "O75469" } ], "protein_names": [ { "name": "Nuclear receptor subfamily 1 group I member 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75469" }, { "name": "Orphan nuclear receptor PAR1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75469" }, { "name": "Orphan nuclear receptor PXR", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75469" }, { "name": "Pregnane X receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75469" }, { "name": "SXR", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75469" }, { "name": "Steroid and xenobiotic receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75469" }, { "name": "nuclear receptor subfamily 1 group I member 2 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003880", "id": "NP_003880" }, { "name": "steroid and xenobiotic receptor; orphan nuclear receptor PXR; pregnane X receptor; orphan nuclear receptor PAR1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003880", "id": "NP_003880" } ], "function": [ { "annotation": "Effect of pregnane X receptor and cytochrome P450 oxidoreductase gene polymorphisms on trough concentrations of rivaroxaban and edoxaban in patients with nonvalvular atrial fibrillation.", "evidence": [ { "database": "RefSeq", "id": "NP_003880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003880" }, { "database": "PubMed", "id": "36951964", "url": "https://glygen.org/publication/PubMed/36951964" } ] }, { "annotation": "Effects of NR1I2 and ABCB1 Genetic Polymorphisms on Everolimus Pharmacokinetics in Japanese Renal Transplant Patients. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003880" }, { "database": "PubMed", "id": "36233042", "url": "https://glygen.org/publication/PubMed/36233042" } ] }, { "annotation": "In-vitro transcription/translation studies show that translation of pregnane X receptor mRNA initiates at a non-AUG (CUG) codon.", "evidence": [ { "database": "RefSeq", "id": "NP_003880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003880" }, { "database": "PubMed", "id": "9727070", "url": "https://glygen.org/publication/PubMed/9727070" } ] }, { "annotation": "NEAT1_2 and DAZAP1, Paraspeckle Components, Interact with PXR to Negatively Regulate CYP3A4 Induction.", "evidence": [ { "database": "RefSeq", "id": "NP_003880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003880" }, { "database": "PubMed", "id": "37349114", "url": "https://glygen.org/publication/PubMed/37349114" } ] }, { "annotation": "Nuclear receptor that binds and is activated by variety of endogenous and xenobiotic compounds. Transcription factor that activates the transcription of multiple genes involved in the metabolism and secretion of potentially harmful xenobiotics, drugs and endogenous compounds. Activated by the antibiotic rifampicin and various plant metabolites, such as hyperforin, guggulipid, colupulone, and isoflavones. Response to specific ligands is species-specific. Activated by naturally occurring steroids, such as pregnenolone and progesterone. Binds to a response element in the promoters of the CYP3A4 and ABCB1/MDR1 genes.", "evidence": [ { "database": "UniProtKB", "id": "O75469", "url": "https://www.uniprot.org/uniprot/O75469#function" }, { "database": "PubMed", "id": "11668216", "url": "https://glygen.org/publication/PubMed/11668216" }, { "database": "PubMed", "id": "18768384", "url": "https://glygen.org/publication/PubMed/18768384" }, { "database": "PubMed", "id": "12578355", "url": "https://glygen.org/publication/PubMed/12578355" }, { "database": "PubMed", "id": "19297428", "url": "https://glygen.org/publication/PubMed/19297428" }, { "database": "PubMed", "id": "9727070", "url": "https://glygen.org/publication/PubMed/9727070" }, { "database": "PubMed", "id": "11297522", "url": "https://glygen.org/publication/PubMed/11297522" } ] }, { "annotation": "Pregnane X receptor gene variant rs7643645 and total mortality in subjects with nonalcoholic fatty liver disease.", "evidence": [ { "database": "RefSeq", "id": "NP_003880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003880" }, { "database": "PubMed", "id": "36503926", "url": "https://glygen.org/publication/PubMed/36503926" } ] }, { "annotation": "Protease-Activated Receptor 1 in Human Carotid Atheroma Is Significantly Related to Iron Metabolism, Plaque Vulnerability, and the Patient's Age. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003880" }, { "database": "PubMed", "id": "35742805", "url": "https://glygen.org/publication/PubMed/35742805" } ] }, { "annotation": "This gene product belongs to the nuclear receptor superfamily, members of which are transcription factors characterized by a ligand-binding domain and a DNA-binding domain. The encoded protein is a transcriptional regulator of the cytochrome P450 gene CYP3A4, binding to the response element of the CYP3A4 promoter as a heterodimer with the 9-cis retinoic acid receptor RXR. It is activated by a range of compounds that induce CYP3A4, including dexamethasone and rifampicin. Several alternatively spliced transcripts encoding different isoforms, some of which use non-AUG (CUG) translation initiation codon, have been described for this gene. Additional transcript variants exist, however, they have not been fully characterized. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_003880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003880" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 66, "end_pos": 67, "sequence_org": "RR", "sequence_mut": "AA", "comment": "Abolishes nuclear localization; when associated with 91-A-A-92.", "evidence": [ { "database": "UniProtKB", "id": "O75469", "url": "https://www.uniprot.org/uniprot/O75469" }, { "database": "PubMed", "id": "12606758", "url": "https://glygen.org/publication/PubMed/12606758" } ] }, { "start_pos": 91, "end_pos": 92, "sequence_org": "RR", "sequence_mut": "AA", "comment": "Abolishes nuclear localization; when associated with 66-A-A-67.", "evidence": [ { "database": "UniProtKB", "id": "O75469", "url": "https://www.uniprot.org/uniprot/O75469" }, { "database": "PubMed", "id": "12606758", "url": "https://glygen.org/publication/PubMed/12606758" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "58.07", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000144852", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144852" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "52", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000144852", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144852" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "63.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000144852", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144852" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "74.46", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000144852", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144852" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "51.15", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000144852", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144852" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "92.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000144852", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144852" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "69.38", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000144852", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144852" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "51.35", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000144852", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144852" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "51.33", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000144852", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144852" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "59.93", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000144852", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144852" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "91.3", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000144852", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144852" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "47.22", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000144852", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144852" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "47.25", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000144852", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144852" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75469", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75469" } ], "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, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75469", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75469" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75469", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75469" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75469", "url": 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"https://www.rcsb.org/structure/5X0R", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6BNS", "url": "https://www.rcsb.org/structure/6BNS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6DUP", "url": "https://www.rcsb.org/structure/6DUP", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6HJ2", "url": "https://www.rcsb.org/structure/6HJ2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6HTY", "url": "https://www.rcsb.org/structure/6HTY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6NX1", "url": "https://www.rcsb.org/structure/6NX1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6P2B", "url": "https://www.rcsb.org/structure/6P2B", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6S41", "url": "https://www.rcsb.org/structure/6S41", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6TFI", "url": "https://www.rcsb.org/structure/6TFI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6XP9", "url": "https://www.rcsb.org/structure/6XP9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7AX8", "url": "https://www.rcsb.org/structure/7AX8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7AX9", "url": "https://www.rcsb.org/structure/7AX9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7AXA", "url": "https://www.rcsb.org/structure/7AXA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7AXB", "url": "https://www.rcsb.org/structure/7AXB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7AXC", "url": "https://www.rcsb.org/structure/7AXC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7AXD", "url": "https://www.rcsb.org/structure/7AXD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7AXE", "url": "https://www.rcsb.org/structure/7AXE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7AXF", "url": "https://www.rcsb.org/structure/7AXF", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7AXG", "url": "https://www.rcsb.org/structure/7AXG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7AXH", "url": "https://www.rcsb.org/structure/7AXH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7AXI", "url": "https://www.rcsb.org/structure/7AXI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7AXJ", "url": "https://www.rcsb.org/structure/7AXJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7AXK", "url": "https://www.rcsb.org/structure/7AXK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7AXL", "url": "https://www.rcsb.org/structure/7AXL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7N2A", "url": "https://www.rcsb.org/structure/7N2A", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7RIO", "url": "https://www.rcsb.org/structure/7RIO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7RIU", "url": "https://www.rcsb.org/structure/7RIU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7RIV", "url": "https://www.rcsb.org/structure/7RIV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7YFK", "url": "https://www.rcsb.org/structure/7YFK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8E3N", "url": "https://www.rcsb.org/structure/8E3N", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8EQZ", "url": "https://www.rcsb.org/structure/8EQZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8FPE", "url": "https://www.rcsb.org/structure/8FPE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8SZV", "url": "https://www.rcsb.org/structure/8SZV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00104", "url": "http://pfam.xfam.org/family/PF00104", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00105", "url": "http://pfam.xfam.org/family/PF00105", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75469", "url": "https://pharos.nih.gov/targets/O75469", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75469", "url": "http://purl.obolibrary.org/obo/PR_O75469", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_003880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003880", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "H0Y8E2", "url": "https://www.uniprot.org/uniprot/H0Y8E2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y8E2-1", "url": "https://www.uniprot.org/uniprot/H0Y8E2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KPQ3", "url": "https://www.uniprot.org/uniprot/J3KPQ3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KPQ3-1", "url": "https://www.uniprot.org/uniprot/J3KPQ3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75469", "url": "https://www.uniprot.org/uniprot/O75469", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75469-1", "url": "https://www.uniprot.org/uniprot/O75469-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75469-2", "url": "https://www.uniprot.org/uniprot/O75469-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75469-3", "url": "https://www.uniprot.org/uniprot/O75469-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75469-4", "url": "https://www.uniprot.org/uniprot/O75469-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75469-5", "url": "https://www.uniprot.org/uniprot/O75469-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75469-6", "url": "https://www.uniprot.org/uniprot/O75469-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75469-7", "url": "https://www.uniprot.org/uniprot/O75469-7", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEVRPKESWNHADFVHCEDTESVPGKPSVNADEEVGGPQICRVCGDKATGYHFNVMTCEGCKGFFRRAMKRNARLRCPFRKGACEITRKTRRQCQACRLRKCLESGMKKEMIMSDEAVEERRALIKRKKSERTGTQPLGVQGLTEEQRMMIRELMDAQMKTFDTTFSHFKNFRLPGVLSSGCELPESLQAPSREEAAKWSQVRKDLCSLKVSLQLRGEDGSVWNYKPPADSGGKEIFSLLPHMADMSTYMFKGIISFAKVISYFRDLPIEDQISLLKGAAFELCQLRFNTVFNAETGTWECGRLSYCLEDTAGGFQQLLLEPMLKFHYMLKKLQLHEEEYVLMQAISLFSPDRPGVLQHRVVDQLQEQFAITLKSYIECNRPQPAHRFLFLKIMAMLTELRSINAQHTQRLLRIQDIHPFATPLMQELFGITGS", "length": 434, "header": "sp|O75469-1|NR1I2_HUMAN Isoform 1 of Nuclear receptor subfamily 1 group I member 2 OS=Homo sapiens OX=9606 GN=NR1I2 PE=1 SV=1 CANONICAL=O75469-1" }, "isoforms": [ { "isoform_ac": "H0Y8E2-1", "url": "", "sequence": { "sequence": "LEVRPKESWNHADFVHCEDTESVPGKPSVNADEEVGGPQICRVCGDKATGYHFNVMTCEGCKGFFRRAMKRNARLRCPFRKGACEITRKTRRQCQACRLRKCLESGMKKEMIMSDEAVEERRALIKRKKSERTGTQPLGVQGLTEEQRMMIRELMDAQMKTFDTTFSHFKNFRVSLQLRGEDGSVWNYKPPADSGGKEIFSLLPHMADMSTYMFKGIISFAKVISYFRDLPIEDQISLLKGAAFELCQLRFNTVFNAETGTWECGRLSYCLEDTAGGFQQLLLEPMLKFHYMLKKLQLHEEEYVLMQAISLFSPDRPGVLQHRVVDQLQEQFAITLKSYIECNRPQPAHRFLFLKIMAMLTELRSINAQHTQRLLRIQDIHPFATPLMQELFGITGS", "length": 397, "header": "tr|H0Y8E2-1|NR1I2_HUMAN Computationally mapped isoform of Nuclear receptor subfamily 1 group I member 2 OS=Homo sapiens OX=9606 GN=NR1I2 PE=1 SV=1 CANONICAL=O75469-1" }, "locus": { "chromosome": "3", "start_pos": 119817209, "end_pos": 119807251, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000466380", "url": "https://www.ensembl.org/id/ENST00000466380" }, { "database": "Ensembl Peptide", "id": "ENSP00000420297", "url": "https://www.ensembl.org/id/ENSP00000420297" } ] } }, { "isoform_ac": "J3KPQ3-1", "url": "", "sequence": { "sequence": "LEVRPKESWNHADFVHCEDTESVPGKPSVNADEEVGGPQICRVCGDKATGYHFNVMTCEGCKGFFRRAMKRNARLRCPFRKGACEITRKTRRQCQACRLRKCLESGMKKEMIMSDEAVEERRALIKRKKSERTGTQPLGVQGLTEEQRMMIRELMDAQMKTFDTTFSHFKNFRLPGVLSSGCELPESLQAPSREEAAKWSQVRKDLCSLKVSLQLRGEDGSVWNYKPPADSGGKEIFSLLPHMADMSTYMFKGIISFAKVISYFRDLPIEDQISLLKGAAFELCQLRFNTVFNAETGTWECGRLSYCLEDTAGGFQQLLLEPMLKFHYMLKKLQLHEEEYVLMQAISLFSPDRPGVLQHRVVDQLQEQFAITLKSYIECNRPQPAHRFLFLKIMAMLTELRSINAQHTQRLLRIQDIHPFATPLMQELFGITGS", "length": 434, "header": "tr|J3KPQ3-1|J3KPQ3_HUMAN Computationally mapped isoform of Nuclear receptor subfamily 1, group I, member 2, isoform CRA_a OS=Homo sapiens OX=9606 GN=NR1I2 PE=1 SV=1 CANONICAL=O75469-1" }, "locus": { "chromosome": "3", "start_pos": 119817209, "end_pos": 119807251, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000393716", "url": "https://www.ensembl.org/id/ENST00000393716" }, { "database": "Ensembl Peptide", "id": "ENSP00000377319", "url": "https://www.ensembl.org/id/ENSP00000377319" } ] } }, { "isoform_ac": "O75469-1", "url": "", "sequence": { "sequence": "MEVRPKESWNHADFVHCEDTESVPGKPSVNADEEVGGPQICRVCGDKATGYHFNVMTCEGCKGFFRRAMKRNARLRCPFRKGACEITRKTRRQCQACRLRKCLESGMKKEMIMSDEAVEERRALIKRKKSERTGTQPLGVQGLTEEQRMMIRELMDAQMKTFDTTFSHFKNFRLPGVLSSGCELPESLQAPSREEAAKWSQVRKDLCSLKVSLQLRGEDGSVWNYKPPADSGGKEIFSLLPHMADMSTYMFKGIISFAKVISYFRDLPIEDQISLLKGAAFELCQLRFNTVFNAETGTWECGRLSYCLEDTAGGFQQLLLEPMLKFHYMLKKLQLHEEEYVLMQAISLFSPDRPGVLQHRVVDQLQEQFAITLKSYIECNRPQPAHRFLFLKIMAMLTELRSINAQHTQRLLRIQDIHPFATPLMQELFGITGS", "length": 434, "header": "sp|O75469-1|NR1I2_HUMAN Isoform 1 of Nuclear receptor subfamily 1 group I member 2 OS=Homo sapiens OX=9606 GN=NR1I2 PE=1 SV=1 CANONICAL=O75469-1" }, "locus": {} }, { "isoform_ac": "O75469-2", "url": "", "sequence": { "sequence": "MTCEGCKGFFRRAMKRNARLRCPFRKGACEITRKTRRQCQACRLRKCLESGMKKEMIMSDEAVEERRALIKRKKSERTGTQPLGVQGLTEEQRMMIRELMDAQMKTFDTTFSHFKNFRLPGVLSSGCELPESLQAPSREEAAKWSQVRKDLCSLKVSLQLRGEDGSVWNYKPPADSGGKEIFSLLPHMADMSTYMFKGIISFAKVISYFRDLPIEDQISLLKGAAFELCQLRFNTVFNAETGTWECGRLSYCLEDTAGGFQQLLLEPMLKFHYMLKKLQLHEEEYVLMQAISLFSPDRPGVLQHRVVDQLQEQFAITLKSYIECNRPQPAHRFLFLKIMAMLTELRSINAQHTQRLLRIQDIHPFATPLMQELFGITGS", "length": 379, "header": "sp|O75469-2|NR1I2_HUMAN Isoform 2 of Nuclear receptor subfamily 1 group I member 2 OS=Homo sapiens OX=9606 GN=NR1I2 PE=1 SV=1 CANONICAL=O75469-1" }, "locus": {} }, { "isoform_ac": "O75469-3", "url": "", "sequence": { "sequence": "MDPRGEVGAKNLPPNSPRGPEANLEVRPKESWNHADFVHCEDTESVPGKPSVNADEEVGGPQICRVCGDKATGYHFNVMTCEGCKGFFRRAMKRNARLRCPFRKGACEITRKTRRQCQACRLRKCLESGMKKEMIMSDEAVEERRALIKRKKSERTGTQPLGVQGLTEEQRMMIRELMDAQMKTFDTTFSHFKNFRLPGVLSSGCELPESLQAPSREEAAKWSQVRKDLCSLKVSLQLRGEDGSVWNYKPPADSGGKEIFSLLPHMADMSTYMFKGIISFAKVISYFRDLPIEDQISLLKGAAFELCQLRFNTVFNAETGTWECGRLSYCLEDTAGGFQQLLLEPMLKFHYMLKKLQLHEEEYVLMQAISLFSPDRPGVLQHRVVDQLQEQFAITLKSYIECNRPQPAHRFLFLKIMAMLTELRSINAQHTQRLLRIQDIHPFATPLMQELFGITGS", "length": 457, "header": "sp|O75469-3|NR1I2_HUMAN Isoform 3 of Nuclear receptor subfamily 1 group I member 2 OS=Homo sapiens OX=9606 GN=NR1I2 PE=1 SV=1 CANONICAL=O75469-1" }, "locus": {} }, { "isoform_ac": "O75469-4", "url": "", "sequence": { "sequence": "MEVRPKESWNHADFVHCEDTESVPGKPSVNADEEVGGPQICRVCGDKATGYHFNVMTCEGCKGFFRRAMKRNARLRCPFRKGACEITRKTRRQCQACRLRKCLESGMKKEMIMSDEAVEERRALIKRKKSERTGTQPLGVQGLTEEQRMMIRELMDAQMKTFDTTFSHFKNFRVSLQLRGEDGSVWNYKPPADSGGKEIFSLLPHMADMSTYMFKGIISFAKVISYFRDLPIEDQISLLKGAAFELCQLRFNTVFNAETGTWECGRLSYCLEDTAGGFQQLLLEPMLKFHYMLKKLQLHEEEYVLMQAISLFSPDRPGVLQHRVVDQLQEQFAITLKSYIECNRPQPAHRFLFLKIMAMLTELRSINAQHTQRLLRIQDIHPFATPLMQELFGITGS", "length": 397, "header": "sp|O75469-4|NR1I2_HUMAN Isoform 4 of Nuclear receptor subfamily 1 group I member 2 OS=Homo sapiens OX=9606 GN=NR1I2 PE=1 SV=1 CANONICAL=O75469-1" }, "locus": {} }, { "isoform_ac": "O75469-5", "url": "", "sequence": { "sequence": "MTCEGCKGFFRRAMKRNARLRCPFRKGACEITRKTRRQCQACRLRKCLESGMKKEMIMSDEAVEERRALIKRKKSERTGTQPLGVQGLTEEQRMMIRELMDAQMKTFDTTFSHFKNFRVSLQLRGEDGSVWNYKPPADSGGKEIFSLLPHMADMSTYMFKGIISFAKVISYFRDLPIEDQISLLKGAAFELCQLRFNTVFNAETGTWECGRLSYCLEDTAGGFQQLLLEPMLKFHYMLKKLQLHEEEYVLMQAISLFSPDRPGVLQHRVVDQLQEQFAITLKSYIECNRPQPAHRFLFLKIMAMLTELRSINAQHTQRLLRIQDIHPFATPLMQELFGITGS", "length": 342, "header": "sp|O75469-5|NR1I2_HUMAN Isoform 5 of Nuclear receptor subfamily 1 group I member 2 OS=Homo sapiens OX=9606 GN=NR1I2 PE=1 SV=1 CANONICAL=O75469-1" }, "locus": {} }, { "isoform_ac": "O75469-6", "url": "", "sequence": { "sequence": "MDPRGEVGAKNLPPNSPRGPEANLEVRPKESWNHADFVHCEDTESVPGKPSVNADEEVGGPQICRVCGDKATGYHFNVMTCEGCKGFFRRAMKRNARLRCPFRKGACEITRKTRRQCQACRLRKCLESGMKKEMIMSDEAVEERRALIKRKKSERTGTQPLGVQGLTEEQRMMIRELMDAQMKTFDTTFSHFKNFRVSLQLRGEDGSVWNYKPPADSGGKEIFSLLPHMADMSTYMFKGIISFAKVISYFRDLPIEDQISLLKGAAFELCQLRFNTVFNAETGTWECGRLSYCLEDTAGGFQQLLLEPMLKFHYMLKKLQLHEEEYVLMQAISLFSPDRPGVLQHRVVDQLQEQFAITLKSYIECNRPQPAHRFLFLKIMAMLTELRSINAQHTQRLLRIQDIHPFATPLMQELFGITGS", "length": 420, "header": "sp|O75469-6|NR1I2_HUMAN Isoform 6 of Nuclear receptor subfamily 1 group I member 2 OS=Homo sapiens OX=9606 GN=NR1I2 PE=1 SV=1 CANONICAL=O75469-1" }, "locus": {} }, { "isoform_ac": "O75469-7", "url": "", "sequence": { "sequence": "MTVTRTHHFKEGSLRAPAIPLHSAAAELASNHPRGPEANLEVRPKESWNHADFVHCEDTESVPGKPSVNADEEVGGPQICRVCGDKATGYHFNVMTCEGCKGFFRRAMKRNARLRCPFRKGACEITRKTRRQCQACRLRKCLESGMKKEMIMSDEAVEERRALIKRKKSERTGTQPLGVQGLTEEQRMMIRELMDAQMKTFDTTFSHFKNFRLPGVLSSGCELPESLQAPSREEAAKWSQVRKDLCSLKVSLQLRGEDGSVWNYKPPADSGGKEIFSLLPHMADMSTYMFKGIISFAKVISYFRDLPIEDQISLLKGAAFELCQLRFNTVFNAETGTWECGRLSYCLEDTAGGFQQLLLEPMLKFHYMLKKLQLHEEEYVLMQAISLFSPDRPGVLQHRVVDQLQEQFAITLKSYIECNRPQPAHRFLFLKIMAMLTELRSINAQHTQRLLRIQDIHPFATPLMQELFGITGS", "length": 473, "header": "sp|O75469-7|NR1I2_HUMAN Isoform 7 of Nuclear receptor subfamily 1 group I member 2 OS=Homo sapiens OX=9606 GN=NR1I2 PE=1 SV=1 CANONICAL=O75469-1" }, "locus": { "chromosome": "3", "start_pos": 119817209, "end_pos": 119782758, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000337940.4", "url": "https://www.ensembl.org/id/ENST00000337940.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000336528.4", "url": "https://www.ensembl.org/id/ENSP00000336528.4" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 114, "end_pos": 114, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75469", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75469" }, { "database": "PubMed", "id": "24184507", "url": "https://glygen.org/publication/PubMed/24184507" } ], "site_lbl": "Ser114" }, { "start_pos": 133, "end_pos": 133, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75469", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75469" }, { "database": "PubMed", "id": "24184507", "url": "https://glygen.org/publication/PubMed/24184507" } ], "site_lbl": "Thr133" }, { "start_pos": 135, "end_pos": 135, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75469", "url": 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"kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75469", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75469" }, { "database": "PubMed", "id": "22976785", "url": "https://glygen.org/publication/PubMed/22976785" } ], "site_lbl": "Thr248" }, { "start_pos": 249, "end_pos": 249, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75469", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75469" }, { "database": "PubMed", "id": "22976785", "url": "https://glygen.org/publication/PubMed/22976785" } ], "site_lbl": "Tyr249" }, { "start_pos": 290, "end_pos": 290, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75469", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75469" }, { "database": 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"Geick A, Eichelbaum M, Burk O", "evidence": [ { "database": "UniProtKB", "id": "O75469", "url": "https://www.uniprot.org/uniprot/O75469" } ], "reference": [ { "type": "PubMed", "id": "11297522", "url": "https://glygen.org/publication/PubMed/11297522" } ] }, { "title": "The human nuclear xenobiotic receptor PXR: structural determinants of directed promiscuity.", "journal": "Science", "date": "2001", "authors": "Watkins R E, Wisely G B, Moore L B, Collins J L, Lambert M H, Williams S P, Willson T M, Kliewer S A, Redinbo M R", "evidence": [ { "database": "UniProtKB", "id": "O75469", "url": "https://www.uniprot.org/uniprot/O75469" } ], "reference": [ { "type": "PubMed", "id": "11408620", "url": "https://glygen.org/publication/PubMed/11408620" } ] }, { "title": "The human pregnane X receptor: genomic structure and identification and functional characterization of natural allelic variants.", "journal": "Pharmacogenetics", "date": "2001", "authors": "Zhang J, Kuehl P, Green ED, Touchman JW, Watkins PB, Daly A, Hall SD, Maurel P, Relling M, Brimer C, Yasuda K, Wrighton SA, Hancock M, Kim RB, Strom S, Thummel K, Russell CG, Hudson JR Jr, Schuetz EG, Boguski MS", "evidence": [ { "database": "UniProtKB", "id": "O75469", "url": "https://www.uniprot.org/uniprot/O75469" } ], "reference": [ { "type": "PubMed", "id": "11668216", "url": "https://glygen.org/publication/PubMed/11668216" } ] }, { "title": "2.1 A crystal structure of human PXR in complex with the St. John's wort compound hyperforin.", "journal": "Biochemistry", "date": "2003", "authors": "Watkins RE, Maglich JM, Moore LB, Wisely GB, Noble SM, Davis-Searles PR, Lambert MH, Kliewer SA, Redinbo MR", "evidence": [ { "database": "UniProtKB", "id": "O75469", "url": "https://www.uniprot.org/uniprot/O75469" } ], "reference": [ { "type": "PubMed", "id": "12578355", "url": "https://glygen.org/publication/PubMed/12578355" } ] }, { "title": "Molecular mechanism of nuclear translocation of an orphan nuclear receptor, SXR.", "journal": "Molecular pharmacology", "date": "2003", "authors": "Kawana K, Ikuta T, Kobayashi Y, Gotoh O, Takeda K, Kawajiri K", "evidence": [ { "database": "UniProtKB", "id": "O75469", "url": "https://www.uniprot.org/uniprot/O75469" } ], "reference": [ { "type": "PubMed", "id": "12606758", "url": "https://glygen.org/publication/PubMed/12606758" } ] }, { "title": "Coactivator binding promotes the specific interaction between ligand and the pregnane X receptor.", "journal": "J. Mol. Biol.", "date": "2003", "authors": "Watkins Ryan E, Davis-Searles Paula R, Lambert Mill H, Redinbo Matthew R", "evidence": [ { "database": "UniProtKB", "id": "O75469", "url": "https://www.uniprot.org/uniprot/O75469" } ], "reference": [ { "type": "PubMed", "id": "12909012", "url": "https://glygen.org/publication/PubMed/12909012" } ] }, { "title": "Eleven novel single nucleotide polymorphisms in the NR1I2 (PXR) gene, four of which induce non-synonymous amino acid alterations.", "journal": "Drug Metab. Pharmacokinet.", "date": "2002", "authors": "Koyano Satoru, Kurose Kouichi, Ozawa Shogo, Saeki Mayumi, Nakajima Yukiko, Hasegawa Ryuichi, Komamura Kazuo, Ueno Kazuyuki, Kamakura Shiro, Nakajima Toshiharu, Saito Hirohisa, Kimura Hideo, Goto Yu-ichi, Saitoh Osamu, Katoh Masaaki, Ohnuma Teiichi, Kawai Mitsuru, Sugai Kenji, Ohtsuki Taisuke, Suzuki Chieko, Minami Narihiro, Saito Yoshiro, Sawada Jun-ichi", "evidence": [ { "database": "UniProtKB", "id": "O75469", "url": "https://www.uniprot.org/uniprot/O75469" } ], "reference": [ { "type": "PubMed", "id": "15618712", "url": "https://glygen.org/publication/PubMed/15618712" } ] }, { "title": "Structural disorder in the complex of human pregnane X receptor and the macrolide antibiotic rifampicin.", "journal": "Mol. Endocrinol.", "date": "2005", "authors": "Chrencik Jill E, Orans Jillian, Moore Linda B, Xue Yu, Peng Li, Collins Jon L, Wisely G Bruce, Lambert Millard H, Kliewer Steven A, Redinbo Matthew R", "evidence": [ { "database": "UniProtKB", "id": "O75469", "url": "https://www.uniprot.org/uniprot/O75469" } ], "reference": [ { "type": "PubMed", "id": "15705662", "url": "https://glygen.org/publication/PubMed/15705662" } ] }, { "title": "Crystal structure of the PXR-T1317 complex provides a scaffold to examine the potential for receptor antagonism.", "journal": "Bioorg. Med. Chem.", "date": "2007", "authors": "Xue Yu, Chao Esther, Zuercher William J, Willson Timothy M, Collins Jon L, Redinbo Matthew R", "evidence": [ { "database": "UniProtKB", "id": "O75469", "url": "https://www.uniprot.org/uniprot/O75469" } ], "reference": [ { "type": "PubMed", "id": "17215127", "url": "https://glygen.org/publication/PubMed/17215127" } ] }, { "title": "Structural basis of human pregnane X receptor activation by the hops constituent colupulone.", "journal": "Molecular pharmacology", "date": "2008-12", "authors": "Teotico Denise G, Bischof Jason J, Peng Li, Kliewer Steven A, Redinbo Matthew R", "evidence": [ { "database": "UniProtKB", "id": "O75469", "url": "https://www.uniprot.org/uniprot/O75469" } ], "reference": [ { "type": "PubMed", "id": "18768384", "url": "https://glygen.org/publication/PubMed/18768384" } ] }, { "title": "Cyclin-dependent kinase 2 negatively regulates human pregnane X receptor-mediated CYP3A4 gene expression in HepG2 liver carcinoma cells.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Lin W, Wu J, Dong H, Bouck D, Zeng FY, Chen T", "evidence": [ { "database": "iPTMnet", "id": "O75469", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75469" } ], "reference": [ { "type": "PubMed", "id": "18784074", "url": "https://glygen.org/publication/PubMed/18784074" } ] }, { "title": "Human CYP3A4 and murine Cyp3A11 are regulated by equol and genistein via the pregnane X receptor in a species-specific manner.", "journal": "The Journal of nutrition", "date": "2009-05", "authors": "Li Yilan, Ross-Viola Jennifer S, Shay Neil F, Moore David D, Ricketts Marie-Louise", "evidence": [ { "database": "UniProtKB", "id": "O75469", "url": "https://www.uniprot.org/uniprot/O75469" } ], "reference": [ { "type": "PubMed", "id": "19297428", "url": "https://glygen.org/publication/PubMed/19297428" } ] }, { "title": "Regulation of pregnane X receptor (PXR) function and UGT1A1 gene expression by posttranslational modification of PXR protein.", "journal": "Drug metabolism and disposition: the biological fate of chemicals", "date": "2012", "authors": "Sugatani J, Uchida T, Kurosawa M, Yamaguchi M, Yamazaki Y, Ikari A, Miwa M", "evidence": [ { "database": "iPTMnet", "id": "O75469", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75469" } ], "reference": [ { "type": "PubMed", "id": "22829544", "url": "https://glygen.org/publication/PubMed/22829544" } ] }, { "title": "The role of residues T248, Y249 and T422 in the function of human pregnane X receptor.", "journal": "Archives of toxicology", "date": "2013", "authors": "Doricakova A, Novotna A, Vrzal R, Pavek P, Dvorak Z", "evidence": [ { "database": "iPTMnet", "id": "O75469", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75469" } ], "reference": [ { "type": "PubMed", "id": "22976785", "url": "https://glygen.org/publication/PubMed/22976785" } ] }, { "title": "Identification and characterization of phosphorylation sites within the pregnane X receptor protein.", "journal": "Biochemical pharmacology", "date": "2014", "authors": "Elias A, High AA, Mishra A, Ong SS, Wu J, Peng J, Chen T", "evidence": [ { "database": "iPTMnet", "id": "O75469", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75469" } ], "reference": [ { "type": "PubMed", "id": "24184507", "url": "https://glygen.org/publication/PubMed/24184507" } ] }, { "title": "Threonine-290 regulates nuclear translocation of the human pregnane X receptor through its phosphorylation/dephosphorylation by Ca2+/calmodulin-dependent protein kinase II and protein phosphatase 1.", "journal": "Drug metabolism and disposition: the biological fate of chemicals", "date": "2014", "authors": "Sugatani J, Hattori Y, Noguchi Y, Yamaguchi M, Yamazaki Y, Ikari A", "evidence": [ { "database": "iPTMnet", "id": "O75469", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75469" } ], "reference": [ { "type": "PubMed", "id": "25074870", "url": "https://glygen.org/publication/PubMed/25074870" } ] }, { "title": "Serine 350 of human pregnane X receptor is crucial for its heterodimerization with retinoid X receptor alpha and transactivation of target genes in vitro and in vivo.", "journal": "Biochemical pharmacology", "date": "2015", "authors": "Wang YM, Chai SC, Lin W, Chai X, Elias A, Wu J, Ong SS, Pondugula SR, Beard JA, Schuetz EG, Zeng S, Xie W, Chen T", "evidence": [ { "database": "iPTMnet", "id": "O75469", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75469" } ], "reference": [ { "type": "PubMed", "id": "26119819", "url": "https://glygen.org/publication/PubMed/26119819" } ] }, { "title": "Threonine-408 Regulates the Stability of Human Pregnane X Receptor through Its Phosphorylation and the CHIP/Chaperone-Autophagy Pathway.", "journal": "Drug metabolism and disposition: the biological fate of chemicals", "date": "2016", "authors": "Sugatani J, Noguchi Y, Hattori Y, Yamaguchi M, Yamazaki Y, Ikari A", "evidence": [ { "database": "iPTMnet", "id": "O75469", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75469" } ], "reference": [ { "type": "PubMed", "id": "26534988", "url": "https://glygen.org/publication/PubMed/26534988" } ] }, { "title": "Glucose elicits serine/threonine kinase VRK1 to phosphorylate nuclear pregnane X receptor as a novel hepatic gluconeogenic signal.", "journal": "Cellular signalling", "date": "2017", "authors": "Gotoh S, Miyauchi Y, Moore R, Negishi M", "evidence": [ { "database": "iPTMnet", "id": "O75469", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75469" } ], "reference": [ { "type": "PubMed", "id": "28911860", "url": "https://glygen.org/publication/PubMed/28911860" } ] }, { "title": "PXR phosphorylated at Ser350 transduces a glucose signal to repress the estrogen sulfotransferase gene in human liver cells and fasting signal in mouse livers.", "journal": "Biochemical pharmacology", "date": "2020-10", "authors": "Hu Hao, Yokobori Kosuke, Negishi Masahiko", "evidence": [ { "database": "iPTMnet", "id": "O75469", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75469" } ], "reference": [ { "type": "PubMed", "id": "32798464", "url": "https://glygen.org/publication/PubMed/32798464" } ] }, { "title": "Phosphorylation-Induced Ubiquitination and Degradation of PXR through CDK2-TRIM21 Axis.", "journal": "Cells", "date": "2022", "authors": "Qin M, Xin Y, Bian Y, Yang X, Xi T, Xiong J", "evidence": [ { "database": "iPTMnet", "id": "O75469", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75469" } ], "reference": [ { "type": "PubMed", "id": "35053380", "url": "https://glygen.org/publication/PubMed/35053380" } ] }, { "title": "Protease-Activated Receptor 1 in Human Carotid Atheroma Is Significantly Related to Iron Metabolism, Plaque Vulnerability, and the Patient's Age.", "journal": "International journal of molecular sciences", "date": "2022", "authors": "Li W, Osman E, Forssell C, Yuan XM", "evidence": [ { "database": "RefSeq", "id": "NP_003880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003880" } ], "reference": [ { "type": "PubMed", "id": "35742805", "url": "https://glygen.org/publication/PubMed/35742805" } ] }, { "title": "Effects of NR1I2 and ABCB1 Genetic Polymorphisms on Everolimus Pharmacokinetics in Japanese Renal Transplant Patients.", "journal": "International journal of molecular sciences", "date": "2022-10-03", "authors": "Yagishita Hironobu, Kagaya Hideaki, Saito Mitsuru, Numakura Kazuyuki, Yamamoto Ryohei, Sagehashi Ryuichiro, Habuchi Tomonori, Satoh Shigeru, Miura Masatomo", "evidence": [ { "database": "RefSeq", "id": "NP_003880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003880" } ], "reference": [ { "type": "PubMed", "id": "36233042", "url": "https://glygen.org/publication/PubMed/36233042" } ] }, { "title": "Pregnane X receptor gene variant rs7643645 and total mortality in subjects with nonalcoholic fatty liver disease.", "journal": "Pharmacogenetics and genomics", "date": "2022-12-12", "authors": "K\u00e4r\u00e4j\u00e4m\u00e4ki Aki J, Hukkanen Janne, Ukkola Olavi", "evidence": [ { "database": "RefSeq", "id": "NP_003880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003880" } ], "reference": [ { "type": "PubMed", "id": "36503926", "url": "https://glygen.org/publication/PubMed/36503926" } ] }, { "title": "Effect of pregnane X receptor and cytochrome P450 oxidoreductase gene polymorphisms on trough concentrations of rivaroxaban and edoxaban in patients with nonvalvular atrial fibrillation.", "journal": "European journal of clinical pharmacology", "date": "2023-03-23", "authors": "Nakagawa Junichi, Kinjo Takahiko, Aiuchi Naoya, Ueno Kayo, Tomita Hirofumi, Niioka Takenori", "evidence": [ { "database": "RefSeq", "id": "NP_003880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003880" } ], "reference": [ { "type": "PubMed", "id": "36951964", "url": "https://glygen.org/publication/PubMed/36951964" } ] }, 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U.S.A.", "date": "1998", "authors": "Bertilsson G, Heidrich J, Svensson K, Asman M, Jendeberg L, Sydow-Backman M, Ohlsson R, Postlind H, Blomquist P, Berkenstam A", "evidence": [ { "database": "UniProtKB", "id": "O75469", "url": "https://www.uniprot.org/uniprot/O75469" } ], "reference": [ { "type": "PubMed", "id": "9770465", "url": "https://glygen.org/publication/PubMed/9770465" } ] }, { "title": "SXR, a novel steroid and xenobiotic-sensing nuclear receptor.", "journal": "Genes Dev.", "date": "1998", "authors": "Blumberg B, Sabbagh W, Juguilon H, Bolado J, van Meter C M, Ong E S, Evans R M", "evidence": [ { "database": "UniProtKB", "id": "O75469", "url": "https://www.uniprot.org/uniprot/O75469" } ], "reference": [ { "type": "PubMed", "id": "9784494", "url": "https://glygen.org/publication/PubMed/9784494" } ] } ], "pathway": [ { "id": "hsa:8856", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8856", "resource": "KEGG Pathway" } ], "orthologs": [ { 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"https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "O75469", "url": "https://www.uniprot.org/uniprot/O75469" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "O75469", "url": "https://www.uniprot.org/uniprot/O75469" } ], "pmid": "" }, { "name": "nuclear receptor activity", "id": "GO:0004879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004879", "evidence": [ { "database": "UniProtKB", "id": "O75469", "url": "https://www.uniprot.org/uniprot/O75469" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "O75469", "url": "https://www.uniprot.org/uniprot/O75469" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region 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"https://www.uniprot.org/uniprot/O75469" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "O75469", "url": "https://www.uniprot.org/uniprot/O75469" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 12, "go_terms": [ { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "O75469", "url": "https://www.uniprot.org/uniprot/O75469" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "O75469", "url": "https://www.uniprot.org/uniprot/O75469" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": 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