{ "uniprot_canonical_ac": "P10746-1", "uniprot_ac": "P10746", "uniprot_id": "HEM4_HUMAN", "mass": { "chemical_mass": 28628.0, "monoisotopic_mass": 28628.0 }, "refseq": { "ac": "NP_000366", "name": "uroporphyrinogen-III synthase isoform 2", "summary": "The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000366" }, "gene_names": [ { "name": "UROS", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P10746", "id": "P10746" }, { "name": "UROIIIS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000366", "id": "NP_000366" }, { "name": "UROS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000366", "id": "NP_000366" }, { "name": "hCG_1727047", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10746", "id": "P10746" } ], "protein_names": [ { "name": "Uroporphyrinogen-III synthase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P10746" }, { "name": "4.2.1.75", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10746" }, { "name": "Hydroxymethylbilane hydrolyase [cyclizing]", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10746" }, { "name": "UROIIIS", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10746" }, { "name": "UROS", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10746" }, { "name": "Uroporphyrinogen-III cosynthase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10746" }, { "name": "uroporphyrinogen-III cosynthase; hydroxymethylbilane hydrolyase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000366", "id": "NP_000366" }, { "name": "uroporphyrinogen-III synthase isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000366", "id": "NP_000366" } ], "function": [ { "annotation": "A, T to C change at nucleotide 34313, leading to a substitution of Leucine by Proline at codon 237, was observed in the homozygous state in a family with congenital erythropoietic porphyria.", "evidence": [ { "database": "RefSeq", "id": "NP_000366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000366" }, { "database": "PubMed", "id": "22350154", "url": "https://glygen.org/publication/PubMed/22350154" } ] }, { "annotation": "Catalyzes cyclization of the linear tetrapyrrole, hydroxymethylbilane, to the macrocyclic uroporphyrinogen III, the branch point for the various sub-pathways leading to the wide diversity of porphyrins (PubMed:11689424, PubMed:18004775). Porphyrins act as cofactors for a multitude of enzymes that perform a variety of processes within the cell such as methionine synthesis (vitamin B12) or oxygen transport (heme).", "evidence": [ { "database": "UniProtKB", "id": "P10746", "url": "https://www.uniprot.org/uniprot/P10746#function" }, { "database": "PubMed", "id": "11689424", "url": "https://glygen.org/publication/PubMed/11689424" }, { "database": "PubMed", "id": "18004775", "url": "https://glygen.org/publication/PubMed/18004775" } ] }, { "annotation": "REVIEW: Structural, thermodynamic, and mechanistical studies in uroporphyrinogen III synthase and molecular basis of congenital erythropoietic porphyria Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000366" }, { "database": "PubMed", "id": "21570665", "url": "https://glygen.org/publication/PubMed/21570665" } ] }, { "annotation": "The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000366" } ] }, { "annotation": "These results expand the molecular heterogeneity of the erythropoietic porphyrias by adding a total of 7 novel mutations in uroporphyrinogen III synthase.", "evidence": [ { "database": "RefSeq", "id": "NP_000366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000366" }, { "database": "PubMed", "id": "30454868", "url": "https://glygen.org/publication/PubMed/30454868" } ] }, { "annotation": "We show evidence that abnormal protein homeostasis is a prevalent mechanism responsible for UROS deficiency and that modulators of UROS proteolysis such as proteasome inhibitors or chemical chaperones may represent an attractive therapeutic option to reduce porphyrin accumulation and prevent skin photosensitivity in Congenital erythropoietic porphyria (CEP)patients when the genotype includes a missense variant.", "evidence": [ { "database": "RefSeq", "id": "NP_000366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000366" }, { "database": "PubMed", "id": "28334762", "url": "https://glygen.org/publication/PubMed/28334762" } ] } ], "disease": [ { "disease_id": "DOID:13271", "recommended_name": { "id": "DOID:13271", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13271", "name": "cutaneous porphyria", "description": "" }, "synonyms": [ { "id": "DOID:13271", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13271", "name": "Erythropoietic porphyria", "description": "" }, { "id": "MONDO:0009902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009902", "name": "cutaneous porphyria", "description": "Congenital erythropoietic porphyria, or Gnther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis." }, { "id": "MONDO:0009902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009902", "name": "CEP", "description": "" }, { "id": "MONDO:0009902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009902", "name": "Gnther disease", "description": "" }, { "id": "MONDO:0009902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009902", "name": "cutaneous porphyria", "description": "" }, { "id": "MONDO:0009902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009902", "name": "erythropoietic porphyria", "description": "" }, { "id": "MONDO:0009902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009902", "name": "Cep", "description": "" }, { "id": "MONDO:0009902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009902", "name": "Gunther disease", "description": "" }, { "id": "MONDO:0009902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009902", "name": "Uros deficiency", "description": "" }, { "id": "MONDO:0009902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009902", "name": "congenital erythropoietic porphyria", "description": "" }, { "id": "MONDO:0009902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009902", "name": "congenital porphyria", "description": "" }, { "id": "MONDO:0009902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009902", "name": "porphyria, congenital erythropoietic", "description": "" }, { "id": "MONDO:0009902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009902", "name": "uroporphyrinogen 3 synthase deficiency", "description": "" }, { "id": "MONDO:0009902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009902", "name": "uroporphyrinogen III synthase, deficiency of", "description": "" }, { "id": "MIM:263700", "resource": "MIM", "url": "https://www.omim.org/entry/263700", "name": "Congenital erythropoietic porphyria", "description": "Congenital erythropoietic porphyria" } ], "evidence": [ { "id": "263700", "database": "MIM", "url": "https://www.omim.org/entry/263700" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 103, "end_pos": 103, "sequence_org": "T", "sequence_mut": "A", "comment": "Slightly affects enzymatic activity.", "evidence": [ { "database": "UniProtKB", "id": "P10746", "url": "https://www.uniprot.org/uniprot/P10746" }, { "database": "PubMed", "id": "11689424", "url": "https://glygen.org/publication/PubMed/11689424" } ] }, { "start_pos": 127, "end_pos": 127, "sequence_org": "E", "sequence_mut": "A", "comment": "Does not affect enzymatic activity.", "evidence": [ { "database": "UniProtKB", "id": "P10746", "url": "https://www.uniprot.org/uniprot/P10746" }, { "database": "PubMed", "id": "11689424", "url": "https://glygen.org/publication/PubMed/11689424" } ] }, { "start_pos": 168, "end_pos": 168, "sequence_org": "Y", "sequence_mut": "F", "comment": "Impairs enzymatic activity.", "evidence": [ { "database": "UniProtKB", "id": "P10746", "url": "https://www.uniprot.org/uniprot/P10746" }, { "database": "PubMed", "id": "11689424", "url": "https://glygen.org/publication/PubMed/11689424" } ] }, { "start_pos": 197, "end_pos": 197, "sequence_org": "S", "sequence_mut": "A", "comment": "Does not affect enzymatic activity.", "evidence": [ { "database": "UniProtKB", "id": "P10746", "url": "https://www.uniprot.org/uniprot/P10746" }, { "database": "PubMed", "id": "11689424", "url": "https://glygen.org/publication/PubMed/11689424" } ] }, { "start_pos": 220, "end_pos": 220, "sequence_org": "K", "sequence_mut": "A", "comment": "Does not affect enzymatic activity.", "evidence": [ { "database": "UniProtKB", "id": "P10746", "url": "https://www.uniprot.org/uniprot/P10746" }, { "database": "PubMed", "id": "11689424", "url": "https://glygen.org/publication/PubMed/11689424" } ] }, { "start_pos": 227, "end_pos": 227, "sequence_org": "T", "sequence_mut": "A", "comment": "Does not affect enzymatic activity.", "evidence": [ { "database": "UniProtKB", "id": "P10746", "url": "https://www.uniprot.org/uniprot/P10746" }, { "database": "PubMed", "id": "11689424", "url": "https://glygen.org/publication/PubMed/11689424" } ] }, { "start_pos": 228, "end_pos": 228, "sequence_org": "T", "sequence_mut": "A", "comment": "Impairs enzymatic activity.", "evidence": [ { "database": "UniProtKB", "id": "P10746", "url": "https://www.uniprot.org/uniprot/P10746" }, { "database": "PubMed", "id": "11689424", "url": "https://glygen.org/publication/PubMed/11689424" } ] }, { "start_pos": 63, "end_pos": 63, "sequence_org": "S", "sequence_mut": "A", "comment": "Does not affect enzymatic activity.", "evidence": [ { "database": "UniProtKB", "id": "P10746", "url": "https://www.uniprot.org/uniprot/P10746" }, { "database": "PubMed", "id": "11689424", "url": "https://glygen.org/publication/PubMed/11689424" } ] }, { "start_pos": 65, "end_pos": 65, "sequence_org": "R", "sequence_mut": "A", "comment": "Slightly affects enzymatic activity.", "evidence": [ { "database": "UniProtKB", "id": "P10746", "url": "https://www.uniprot.org/uniprot/P10746" }, { "database": "PubMed", "id": "11689424", "url": "https://glygen.org/publication/PubMed/11689424" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "88.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000188690", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188690" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "79.83", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000188690", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188690" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "86.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000188690", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188690" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "80.27", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000188690", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188690" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000188690", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188690" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "90.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000188690", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188690" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "76.99", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000188690", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188690" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "84.68", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000188690", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188690" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "92.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000188690", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188690" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "65.19", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000188690", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188690" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "88.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000188690", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188690" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "93.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000188690", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188690" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "90.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000188690", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188690" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P10746", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10746" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - 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"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", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "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": "" 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P10746", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10746" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10746" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P10746", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10746" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P10746", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10746" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P10746", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10746" } ], "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": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P10746", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10746" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P10746", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10746" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P10746", "url": "https://www.uniprot.org/uniprot/P10746" } ], "common_name": "Human" } ], "gene": [ { "name": "UROS", "url": "https://www.uniprot.org/uniprot/P10746", "locus": { "chromosome": "10", "start_pos": 39683, "end_pos": 5011, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "LRG_1081", "url": "https://www.ensembl.org/id/LRG_1081" } ] } } ], "crossref": [ { "id": "ENSG00000188690", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188690", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "4.2.1.75", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=4.2.1.75&UniProtAcc=P10746", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd06578", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd06578", "database": "CDD", 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"database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR039793", "url": "https://www.ebi.ac.uk/interpro/entry/IPR039793", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:7390", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7390", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "263700", "url": "http://www.omim.org/entry/263700", "database": "MIM", "categories": [ "Other" ] }, { "id": "606938", "url": "http://www.omim.org/entry/606938", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P10746", "url": "https://www.nextprot.org/entry/NX_P10746", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P10746", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P10746", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "IHGADTG", "url": "https://omabrowser.org/oma/group/IHGADTG/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1472480at2759", "url": "http://www.orthodb.org/?query=1472480at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12390", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12390", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12390:SF0", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12390:SF0", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1JR2", "url": "https://www.rcsb.org/structure/1JR2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF02602", "url": "http://pfam.xfam.org/family/PF02602", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P10746", "url": "https://pharos.nih.gov/targets/P10746", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P10746", "url": "http://purl.obolibrary.org/obo/PR_P10746", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000366", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "18965", "url": "https://www.rhea-db.org/rhea/18965", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A087WUV7", "url": "https://www.uniprot.org/uniprot/A0A087WUV7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WUV7-1", "url": "https://www.uniprot.org/uniprot/A0A087WUV7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WZB7", "url": "https://www.uniprot.org/uniprot/A0A087WZB7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WZB7-1", "url": "https://www.uniprot.org/uniprot/A0A087WZB7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087X021", "url": "https://www.uniprot.org/uniprot/A0A087X021", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087X021-1", "url": "https://www.uniprot.org/uniprot/A0A087X021-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3IS33", "url": "https://www.uniprot.org/uniprot/A0A3B3IS33", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3IS33-1", "url": "https://www.uniprot.org/uniprot/A0A3B3IS33-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3IS76", "url": "https://www.uniprot.org/uniprot/A0A3B3IS76", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3IS76-1", "url": "https://www.uniprot.org/uniprot/A0A3B3IS76-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ISL9", "url": "https://www.uniprot.org/uniprot/A0A3B3ISL9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ISL9-1", "url": "https://www.uniprot.org/uniprot/A0A3B3ISL9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ISM6", "url": "https://www.uniprot.org/uniprot/A0A3B3ISM6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ISM6-1", "url": "https://www.uniprot.org/uniprot/A0A3B3ISM6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ISX6", "url": "https://www.uniprot.org/uniprot/A0A3B3ISX6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ISX6-1", "url": "https://www.uniprot.org/uniprot/A0A3B3ISX6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ITJ2", "url": "https://www.uniprot.org/uniprot/A0A3B3ITJ2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ITJ2-1", "url": "https://www.uniprot.org/uniprot/A0A3B3ITJ2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3IU75", "url": "https://www.uniprot.org/uniprot/A0A3B3IU75", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3IU75-1", "url": "https://www.uniprot.org/uniprot/A0A3B3IU75-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3IUC8", "url": "https://www.uniprot.org/uniprot/A0A3B3IUC8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3IUC8-1", "url": "https://www.uniprot.org/uniprot/A0A3B3IUC8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10746", "url": "https://www.uniprot.org/uniprot/P10746", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10746-1", "url": "https://www.uniprot.org/uniprot/P10746-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5T3L7", "url": "https://www.uniprot.org/uniprot/Q5T3L7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5T3L7-1", "url": "https://www.uniprot.org/uniprot/Q5T3L7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5T3L8", "url": "https://www.uniprot.org/uniprot/Q5T3L8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5T3L8-1", "url": "https://www.uniprot.org/uniprot/Q5T3L8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5T3L9", "url": "https://www.uniprot.org/uniprot/Q5T3L9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5T3L9-1", "url": "https://www.uniprot.org/uniprot/Q5T3L9-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKTEVWERSLKEKWNAKSVYVVGNATASLVSKIGLDTEGETCGNAEKLAEYICSRESSALPLLFPCGNLKREILPKALKDKGIAMESITVYQTVAHPGIQGNLNSYYSQQGVPASITFFSPSGLTYSLKHIQELSGDNIDQIKFAAIGPTTARALAAQGLPVSCTAESPTPQALATGIRKALQPHGCC", "length": 265, "header": "sp|P10746-1|HEM4_HUMAN Isoform 1 of Uroporphyrinogen-III synthase OS=Homo sapiens OX=9606 GN=UROS PE=1 SV=1 CANONICAL=P10746-1" }, "isoforms": [ { "isoform_ac": "A0A087WUV7-1", "url": "", "sequence": { "sequence": "XEGETCGNAEKLAEYICSRESSALPLLFPCGNLKREILPKALKDKGIAMESITVYQTVAHPGIQGNLNSYYSQQGVPASITFFSPSGLTYSLKHIQELSGDNIDQIKKHP", "length": 110, "header": "tr|A0A087WUV7-1|HEM4_HUMAN Computationally mapped isoform of Uroporphyrinogen-III synthase OS=Homo sapiens OX=9606 GN=UROS PE=1 SV=1 CANONICAL=P10746-1" }, "locus": { "chromosome": "10", "start_pos": 125807465, "end_pos": 125794378, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000462490.5", "url": "https://www.ensembl.org/id/ENST00000462490.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000478957.1", "url": "https://www.ensembl.org/id/ENSP00000478957.1" } ] } }, { "isoform_ac": "A0A087WZB7-1", "url": "", "sequence": { "sequence": "XYQTVAHPGIQGNLNSYYSQQGVPASITFFSPSGLTYSLKHIQELSGDNIDQIKIEELELQWASWALR", "length": 68, "header": "tr|A0A087WZB7-1|HEM4_HUMAN Computationally mapped isoform of Uroporphyrinogen-III synthase OS=Homo sapiens OX=9606 GN=UROS PE=1 SV=1 CANONICAL=P10746-1" }, "locus": { "chromosome": "10", "start_pos": 125796163, "end_pos": 125785217, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000616800.4", "url": "https://www.ensembl.org/id/ENST00000616800.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000482520.1", "url": "https://www.ensembl.org/id/ENSP00000482520.1" } ] } }, { "isoform_ac": "A0A087X021-1", "url": "", "sequence": { "sequence": "FPCGNLKREILPKALKDKGIAMESITVYQTVAHPGIQGNLNSYYSQQGVPASITFFSPSGLTYSLKHIQELSGDNIDQIKLLDGGELLKKFMQGRNKGSHRNLRAKVKCNWPPRPRGASSEN", "length": 122, "header": "tr|A0A087X021-1|HEM4_HUMAN Computationally mapped isoform of Uroporphyrinogen-III synthase OS=Homo sapiens OX=9606 GN=UROS PE=1 SV=1 CANONICAL=P10746-1" }, "locus": { "chromosome": "10", "start_pos": 125798119, "end_pos": 125785714, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000622016.4", "url": "https://www.ensembl.org/id/ENST00000622016.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000483041.1", "url": "https://www.ensembl.org/id/ENSP00000483041.1" } ] } }, { "isoform_ac": "A0A3B3IS33-1", "url": "", "sequence": { "sequence": "XKREILPKALKDKGIAMESITVYQTVAHPGIQGNLNSYYSQQGVPASITFFSPSGLTYSLKHIQELSGDNIDQIKKHP", "length": 78, "header": "tr|A0A3B3IS33-1|A0A3B3IS33_HUMAN Computationally mapped isoform of uroporphyrinogen-III synthase OS=Homo sapiens OX=9606 GN=UROS PE=1 SV=1 CANONICAL=P10746-1" }, "locus": { "chromosome": "10", "start_pos": 125798103, "end_pos": 125794379, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000464267.1", "url": "https://www.ensembl.org/id/ENST00000464267.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497095.1", "url": "https://www.ensembl.org/id/ENSP00000497095.1" } ] } }, { "isoform_ac": "A0A3B3IS76-1", "url": "", "sequence": { "sequence": "XLEQNNKTEVWERSLKEKWNAKSVYVVGNATASLVSKIGLDTEGETCGNAEKLAEYICSRESSALPLLFPCGNLKREILPKALKDKGIAMESITVYQTVAHPGIQGNLNSYYSQQGVPASITFFSPSGLTYSLKHIQELSGDNIDQIKKHP", "length": 151, "header": "tr|A0A3B3IS76-1|A0A3B3IS76_HUMAN Computationally mapped isoform of uroporphyrinogen-III synthase OS=Homo sapiens OX=9606 GN=UROS PE=1 SV=1 CANONICAL=P10746-1" }, "locus": { "chromosome": "10", "start_pos": 125815060, "end_pos": 125794379, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000650185.1", "url": "https://www.ensembl.org/id/ENST00000650185.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497155.1", "url": "https://www.ensembl.org/id/ENSP00000497155.1" } ] } }, { "isoform_ac": "A0A3B3ISL9-1", "url": "", "sequence": { "sequence": "MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKTEVWERSLKEKWNAKSVYVVGNATASLVSKIGLDTEGETCGNAEKLAEYICSRESSALPLLFPCGNLKREILPKALKDKEA", "length": 160, "header": "tr|A0A3B3ISL9-1|HEM4_HUMAN Computationally mapped isoform of Uroporphyrinogen-III synthase OS=Homo sapiens OX=9606 GN=UROS PE=1 SV=1 CANONICAL=P10746-1" }, "locus": { "chromosome": "10", "start_pos": 125816499, "end_pos": 125796857, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000648119.1", "url": "https://www.ensembl.org/id/ENST00000648119.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497494.1", "url": "https://www.ensembl.org/id/ENSP00000497494.1" } ] } }, { "isoform_ac": "A0A3B3ISM6-1", "url": "", "sequence": { "sequence": "MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKTEVWERSLKEKWNAKSVYVVGNATASLVSKIGLDTEGETCGNAEKLAEYICSRESSALPLLFPCGNLKREILPKALKDKGIAMESITVYQTVAHPGIQGNLNSYYSQQGVPASITFFSPSGLTYSLKHIQELSGDNIDQIKTQGPQHPKKNCLQLEPLRKDCTDTAVMFAAIGPTTARALAAQGLPVSCTAESPTPQALATGIRKALQPHGCC", "length": 292, "header": "tr|A0A3B3ISM6-1|HEM4_HUMAN Computationally mapped isoform of Uroporphyrinogen-III synthase OS=Homo sapiens OX=9606 GN=UROS PE=1 SV=1 CANONICAL=P10746-1" }, "locus": { "chromosome": "10", "start_pos": 125816499, "end_pos": 125788871, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000650587.1", "url": "https://www.ensembl.org/id/ENST00000650587.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497366.1", "url": "https://www.ensembl.org/id/ENSP00000497366.1" } ] } }, { "isoform_ac": "A0A3B3ISX6-1", "url": "", "sequence": { "sequence": "XLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKTEVWERSLKEKWNAKSVYVVGNATASLVSKIGLDTEGETCGNAEKLAEYICSRESSALPLLFPCGNLKREILPKALKDKAM", "length": 137, "header": "tr|A0A3B3ISX6-1|HEM4_HUMAN Computationally mapped isoform of Uroporphyrinogen-III synthase OS=Homo sapiens OX=9606 GN=UROS PE=1 SV=1 CANONICAL=P10746-1" }, "locus": { "chromosome": "10", "start_pos": 125816252, "end_pos": 125797419, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000649275.1", "url": "https://www.ensembl.org/id/ENST00000649275.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497497.1", "url": "https://www.ensembl.org/id/ENSP00000497497.1" } ] } }, { "isoform_ac": "A0A3B3ITJ2-1", "url": "", "sequence": { "sequence": "MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKTEVWERSLKEKWNAKSVYVVGNATASLVSKIGLDTEGETCGNAEKLAEYICSRIAMESITVYQTVAHPGIQGNLNSYYSQQGVPASITFFSPSGLTYSLKHIQELSGDNIDQIKTQGPQHPKKNCLQLEPLRKDCTDTAVMFAAIGPTTARALAAQGLPVSCTAESPTPQALATGIRKALQPHGCC", "length": 265, "header": "tr|A0A3B3ITJ2-1|A0A3B3ITJ2_HUMAN Computationally mapped isoform of uroporphyrinogen-III synthase OS=Homo sapiens OX=9606 GN=UROS PE=1 SV=1 CANONICAL=P10746-1" }, "locus": { "chromosome": "10", "start_pos": 125816499, "end_pos": 125788871, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000649536.1", "url": "https://www.ensembl.org/id/ENST00000649536.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497817.1", "url": "https://www.ensembl.org/id/ENSP00000497817.1" } ] } }, { "isoform_ac": "A0A3B3IU75-1", "url": "", "sequence": { "sequence": "AVEAAELCLEQNNKTEVWERSLKEKWNAKSVYVVGNATASLVSKIGLDTEGETCGNAEKLAEYICSSEEVKGIF", "length": 74, "header": "tr|A0A3B3IU75-1|HEM4_HUMAN Computationally mapped isoform of Uroporphyrinogen-III synthase OS=Homo sapiens OX=9606 GN=UROS PE=1 SV=1 CANONICAL=P10746-1" }, "locus": { "chromosome": "10", "start_pos": 125815082, "end_pos": 125803002, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000650524.1", "url": "https://www.ensembl.org/id/ENST00000650524.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498108.1", "url": "https://www.ensembl.org/id/ENSP00000498108.1" } ] } }, { "isoform_ac": "A0A3B3IUC8-1", "url": "", "sequence": { "sequence": "XKIGLDTEGETCGNAEKLAEYICSRESSALPLLFPCGNLKREILPKALKDKGIAMESITVYQTVAHPGIQGNLNSYYSQQFPTRILPHWSRGCQHQPGTTPVLKPPWWPVA", "length": 111, "header": "tr|A0A3B3IUC8-1|HEM4_HUMAN Computationally mapped isoform of Uroporphyrinogen-III synthase OS=Homo sapiens OX=9606 GN=UROS PE=1 SV=1 CANONICAL=P10746-1" }, "locus": { "chromosome": "10", "start_pos": 125807483, "end_pos": 125795064, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000465577.6", "url": "https://www.ensembl.org/id/ENST00000465577.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000498183.1", "url": "https://www.ensembl.org/id/ENSP00000498183.1" } ] } }, { "isoform_ac": "P10746-1", "url": "", "sequence": { "sequence": "MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKTEVWERSLKEKWNAKSVYVVGNATASLVSKIGLDTEGETCGNAEKLAEYICSRESSALPLLFPCGNLKREILPKALKDKGIAMESITVYQTVAHPGIQGNLNSYYSQQGVPASITFFSPSGLTYSLKHIQELSGDNIDQIKFAAIGPTTARALAAQGLPVSCTAESPTPQALATGIRKALQPHGCC", "length": 265, "header": "sp|P10746-1|HEM4_HUMAN Isoform 1 of Uroporphyrinogen-III synthase OS=Homo sapiens OX=9606 GN=UROS PE=1 SV=1 CANONICAL=P10746-1" }, "locus": { "chromosome": "10", "start_pos": 125816499, "end_pos": 125788871, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000368786.5", "url": "https://www.ensembl.org/id/ENST00000368786.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000357775.1", "url": "https://www.ensembl.org/id/ENSP00000357775.1" } ] } }, { "isoform_ac": "Q5T3L7-1", "url": "", "sequence": { "sequence": "MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKTEVWERSLKEKWNAKSVYVVGNATASLVSKIGLDTEGETCGNAEKLAEYICSSK", "length": 133, "header": "tr|Q5T3L7-1|HEM4_HUMAN Computationally mapped isoform of Uroporphyrinogen-III synthase OS=Homo sapiens OX=9606 GN=UROS PE=1 SV=1 CANONICAL=P10746-1" }, "locus": { "chromosome": "10", "start_pos": 125816499, "end_pos": 125807408, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000368774.1", "url": "https://www.ensembl.org/id/ENST00000368774.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000357763.1", "url": "https://www.ensembl.org/id/ENSP00000357763.1" } ] } }, { "isoform_ac": "Q5T3L8-1", "url": "", "sequence": { "sequence": "MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKTEVWERSLKEKWNAKSVYVVGNATASLVSKIGLDTEGETCGNAEKLAEYICSSEEVKGIF", "length": 139, "header": "tr|Q5T3L8-1|HEM4_HUMAN Computationally mapped isoform of Uroporphyrinogen-III synthase OS=Homo sapiens OX=9606 GN=UROS PE=1 SV=1 CANONICAL=P10746-1" }, "locus": { "chromosome": "10", "start_pos": 125816499, "end_pos": 125803002, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000368778.7", "url": "https://www.ensembl.org/id/ENST00000368778.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000357767.3", "url": "https://www.ensembl.org/id/ENSP00000357767.3" } ] } }, { "isoform_ac": "Q5T3L9-1", "url": "", "sequence": { "sequence": "MKVLLLKDAKEDDCGQDPYIRLSHPEDYGGLIFTSPRAVEAAELCLEQNNKTEVWERSLKEKWNAKSVYVVGNATASLVSKIGLDTEGETCGNAEKLAEYICSRESSALPLLFPCGNLKREILPKALKDKGIAMESITVYQTVAHPGIQGNLNSYYSQQGVPASITFFSPSGLTYSLKHIQELSG", "length": 185, "header": "tr|Q5T3L9-1|HEM4_HUMAN Computationally mapped isoform of Uroporphyrinogen-III synthase OS=Homo sapiens OX=9606 GN=UROS PE=1 SV=1 CANONICAL=P10746-1" }, "locus": { "chromosome": "10", "start_pos": 125816499, "end_pos": 125794901, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000420761.5", "url": "https://www.ensembl.org/id/ENST00000420761.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000414833.1", "url": "https://www.ensembl.org/id/ENSP00000414833.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P10746", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P10746" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria.", "journal": "Hepatology (Baltimore, Md.)", "date": "2000", "authors": "Akagi R, Shimizu R, Furuyama K, Doss MO, Sassa S", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "10706561", "url": "https://glygen.org/publication/PubMed/10706561" } ] }, { "title": "The molecular mechanism of lead inhibition of human porphobilinogen synthase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Jaffe EK, Martins J, Li J, Kervinen J, Dunbrack RL Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "11032836", "url": "https://glygen.org/publication/PubMed/11032836" } ] }, { "title": "Mechanistic implications of mutations to the active site lysine of porphobilinogen synthase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Mitchell LW, Volin M, Martins J, Jaffe EK", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "11032841", "url": "https://glygen.org/publication/PubMed/11032841" } ] }, { "title": "Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression.", "journal": "Genomics", "date": "2000", "authors": "Aizencang G, Solis C, Bishop D F, Warner C, Desnick R J", "evidence": [ { "database": "UniProtKB", "id": "P10746", "url": "https://www.uniprot.org/uniprot/P10746" } ], "reference": [ { "type": "PubMed", "id": "11112350", "url": "https://glygen.org/publication/PubMed/11112350" } ] }, { "title": "Congenital erythropoietic porphyria: a novel homozygous mutation in a Japanese patient.", "journal": "The Journal of investigative dermatology", "date": "2000", "authors": "Rogounovitch T, Takamura N, Hombrados I, Morel C, Tanaka T, Kameyoshi Y, Shimizu-Yoshida Y, de Verneuil H, Yamashita S", "evidence": [ { "database": "UniProtKB", "id": "P10746", "url": "https://www.uniprot.org/uniprot/P10746" } ], "reference": [ { "type": "PubMed", "id": "11121156", "url": "https://glygen.org/publication/PubMed/11121156" } ] }, { "title": "The 2.0 A structure of human ferrochelatase, the terminal enzyme of heme biosynthesis.", "journal": "Nature structural biology", "date": "2001", "authors": "Wu CK, Dailey HA, Rose JP, Burden A, Sellers VM, Wang BC", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "11175906", "url": "https://glygen.org/publication/PubMed/11175906" } ] }, { "title": "Crystal structure of human uroporphyrinogen III synthase.", "journal": "The EMBO journal", "date": "2001", "authors": "Mathews MA, Schubert HL, Whitby FG, Alexander KJ, Schadick K, Bergonia HA, Phillips JD, Hill CP", "evidence": [ { "database": "UniProtKB", "id": "P10746", "url": "https://www.uniprot.org/uniprot/P10746" } ], "reference": [ { "type": "PubMed", "id": "11689424", "url": "https://glygen.org/publication/PubMed/11689424" } ] }, { "title": "Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene.", "journal": "British journal of haematology", "date": "2002", "authors": "Shady AA, Colby BR, Cunha LF, Astrin KH, Bishop DF, Desnick RJ", "evidence": [ { "database": "UniProtKB", "id": "P10746", "url": "https://www.uniprot.org/uniprot/P10746" } ], "reference": [ { "type": "PubMed", "id": "12060141", "url": "https://glygen.org/publication/PubMed/12060141" } ] }, { "title": "Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.", "journal": "American journal of human genetics", "date": "2003", "authors": "Antonicka H, Mattman A, Carlson CG, Glerum DM, Hoffbuhr KC, Leary SC, Kennaway NG, Shoubridge EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "12474143", "url": "https://glygen.org/publication/PubMed/12474143" } ] }, { "title": "Human porphobilinogen deaminase mutations in the investigation of the mechanism of dipyrromethane cofactor assembly and tetrapyrrole formation.", "journal": "Biochemical Society transactions", "date": "2003", "authors": "Shoolingin-Jordan PM, Al-Dbass A, McNeill LA, Sarwar M, Butler D", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "12773194", "url": "https://glygen.org/publication/PubMed/12773194" } ] }, { "title": "Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome.", "journal": "Journal of medical genetics", "date": "2004", "authors": "Oquendo CE, Antonicka H, Shoubridge EA, Reardon W, Brown GK", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "15235026", "url": "https://glygen.org/publication/PubMed/15235026" } ] }, { "title": "Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling.", "journal": "The Journal of investigative dermatology", "date": "2004", "authors": "Ged C, Megarbane H, Chouery E, Lalanne M, Megarbane A, de Verneuil H", "evidence": [ { "database": "UniProtKB", "id": "P10746", "url": "https://www.uniprot.org/uniprot/P10746" } ], "reference": [ { "type": "PubMed", "id": "15304101", "url": "https://glygen.org/publication/PubMed/15304101" } ] }, { "title": "Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.", "journal": "Journal of medical genetics", "date": "2005", "authors": "Bugiani M, Tiranti V, Farina L, Uziel G, Zeviani M", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "15863660", "url": "https://glygen.org/publication/PubMed/15863660" } ] }, { "title": "Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans.", "journal": "The EMBO journal", "date": "2005", "authors": "Astner I, Schulze JO, van den Heuvel J, Jahn D, Schubert WD, Heinz DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "16121195", "url": "https://glygen.org/publication/PubMed/16121195" } ] }, { "title": "Structural basis of hereditary coproporphyria.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Lee DS, Flachsova E, Bodnarova M, Demeler B, Martasek P, Raman CS", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "16176984", "url": "https://glygen.org/publication/PubMed/16176984" } ] }, { "title": "Kinetic evaluation of human cloned coproporphyrinogen oxidase using a ring isomer of the natural substrate.", "journal": "Medical science monitor : international medical journal of experimental and clinical research", "date": "2005", "authors": "Cooper CL, Lash TD, Jones MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "16258391", "url": "https://glygen.org/publication/PubMed/16258391" } ] }, { "title": "Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.", "journal": "Human genetics", "date": "1992", "authors": "Boulechfar S, Da Silva V, Deybach JC, Nordmann Y, Grandchamp B, de Verneuil H", "evidence": [ { "database": "UniProtKB", "id": "P10746", "url": "https://www.uniprot.org/uniprot/P10746" } ], "reference": [ { "type": "PubMed", "id": "1733834", "url": "https://glygen.org/publication/PubMed/1733834" } ] }, { "title": "Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene.", "journal": "The Journal of clinical investigation", "date": "1992", "authors": "Warner CA, Yoo HW, Roberts AG, Desnick RJ", "evidence": [ { "database": "UniProtKB", "id": "P10746", "url": "https://www.uniprot.org/uniprot/P10746" } ], "reference": [ { "type": "PubMed", "id": "1737856", "url": "https://glygen.org/publication/PubMed/1737856" } ] }, { "title": "Human uroporphyrinogen III synthase: NMR-based mapping of the active site.", "journal": "Proteins", "date": "2008", "authors": "Cunha L, Kuti M, Bishop DF, Mezei M, Zeng L, Zhou MM, Desnick RJ", "evidence": [ { "database": "UniProtKB", "id": "P10746", "url": "https://www.uniprot.org/uniprot/P10746" } ], "reference": [ { "type": "PubMed", "id": "18004775", "url": "https://glygen.org/publication/PubMed/18004775" } ] }, { "title": "Biosynthesis of delta-aminolevulinic acid and the regulation of heme formation by immature erythroid cells in man.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Gardner LC, Smith SJ, Cox TM", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "1939222", "url": "https://glygen.org/publication/PubMed/1939222" } ] }, { "title": "ABCG2 transports and transfers heme to albumin through its large extracellular loop.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Desuzinges-Mandon E, Arnaud O, Martinez L, Huche F, Di Pietro A, Falson P", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "20705604", "url": "https://glygen.org/publication/PubMed/20705604" } ] }, { "title": "Structural, thermodynamic, and mechanistical studies in uroporphyrinogen III synthase: molecular basis of congenital erythropoietic porphyria.", "journal": "Advances in protein chemistry and structural biology", "date": "2011", "authors": "Fortian A, Castano D, Gonzalez E, Lain A, Falcon-Perez JM, Millet O", "evidence": [ { "database": "RefSeq", "id": "NP_000366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000366" } ], "reference": [ { "type": "PubMed", "id": "21570665", "url": "https://glygen.org/publication/PubMed/21570665" } ] }, { "title": "ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.", "journal": "Blood", "date": "2011", "authors": "To-Figueras J, Ducamp S, Clayton J, Badenas C, Delaby C, Ged C, Lyoumi S, Gouya L, de Verneuil H, Beaumont C, Ferreira GC, Deybach JC, Herrero C, Puy H", "evidence": [ { "database": "UniProtKB", "id": "P10746", "url": "https://www.uniprot.org/uniprot/P10746" } ], "reference": [ { "type": "PubMed", "id": "21653323", "url": "https://glygen.org/publication/PubMed/21653323" } ] }, { "title": "Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria.", "journal": "Molecular biology reports", "date": "2012", "authors": "Moghbeli M, Maleknejad M, Arabi A, Abbaszadegan MR", "evidence": [ { "database": "UniProtKB", "id": "P10746", "url": "https://www.uniprot.org/uniprot/P10746" }, { "database": "RefSeq", "id": "NP_000366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000366" } ], "reference": [ { "type": "PubMed", "id": "22350154", "url": "https://glygen.org/publication/PubMed/22350154" } ] }, { "title": "Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Gunther's disease).", "journal": "Blood", "date": "1990", "authors": "Deybach JC, de Verneuil H, Boulechfar S, Grandchamp B, Nordmann Y", "evidence": [ { "database": "UniProtKB", "id": "P10746", "url": "https://www.uniprot.org/uniprot/P10746" } ], "reference": [ { "type": "PubMed", "id": "2331520", "url": "https://glygen.org/publication/PubMed/2331520" } ] }, { "title": "Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.", "journal": "Human molecular genetics", "date": "2017", "authors": "Blouin JM, Bernardo-Seisdedos G, Sasso E, Esteve J, Ged C, Lalanne M, Sanz-Parra A, Urquiza P, de Verneuil H, Millet O, Richard E", "evidence": [ { "database": "RefSeq", "id": "NP_000366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000366" } ], "reference": [ { "type": "PubMed", "id": "28334762", "url": "https://glygen.org/publication/PubMed/28334762" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P10746", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P10746" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.", "journal": "Molecular genetics and metabolism", "date": "2019", "authors": "Weiss Y, Balwani M, Chen B, Yasuda M, Nazarenko I, Desnick RJ", "evidence": [ { "database": "RefSeq", "id": "NP_000366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000366" } ], "reference": [ { "type": "PubMed", "id": "30454868", "url": "https://glygen.org/publication/PubMed/30454868" } ] }, { "title": "Human uroporphyrinogen III synthase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1988", "authors": "Tsai S F, Bishop D F, Desnick R J", "evidence": [ { "database": "UniProtKB", "id": "P10746", "url": "https://www.uniprot.org/uniprot/P10746" } ], "reference": [ { "type": "PubMed", "id": "3174619", "url": "https://glygen.org/publication/PubMed/3174619" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P10746", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P10746" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Purification and properties of uroporphyrinogen III synthase from human erythrocytes.", "journal": "The Journal of biological chemistry", "date": "1987", "authors": "Tsai SF, Bishop DF, Desnick RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "3805019", "url": "https://glygen.org/publication/PubMed/3805019" } ] }, { "title": "Evidence that the coproporphyrinogen oxidase activity of rat liver is situated in the intermembrane space of mitochondria.", "journal": "The Biochemical journal", "date": "1978", "authors": "Elder GH, Evans JO", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "666752", "url": "https://glygen.org/publication/PubMed/666752" } ] }, { "title": "Purification and properties of uroporphyrinogen decarboxylase from human erythrocytes. A single enzyme catalyzing the four sequential decarboxylations of uroporphyrinogens I and III.", "journal": "The Journal of biological chemistry", "date": "1983", "authors": "de Verneuil H, Sassa S, Kappas A", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "6822570", "url": "https://glygen.org/publication/PubMed/6822570" } ] }, { "title": "Purification and properties of uroporphyrinogen I synthase from human erythrocytes. Identification of stable enzyme-substrate intermediates.", "journal": "The Journal of biological chemistry", "date": "1980", "authors": "Anderson PM, Desnick RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "7354069", "url": "https://glygen.org/publication/PubMed/7354069" } ] }, { "title": "Porphobilinogen deaminase and uroporphyrinogen III synthase: structure, molecular biology, and mechanism.", "journal": "Journal of bioenergetics and biomembranes", "date": "1995", "authors": "Shoolingin-Jordan PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "7592565", "url": "https://glygen.org/publication/PubMed/7592565" } ] }, { "title": "Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.", "journal": "The Journal of clinical investigation", "date": "1995", "authors": "Xu W, Warner CA, Desnick RJ", "evidence": [ { "database": "UniProtKB", "id": "P10746", "url": "https://www.uniprot.org/uniprot/P10746" } ], "reference": [ { "type": "PubMed", "id": "7860775", "url": "https://glygen.org/publication/PubMed/7860775" } ] }, { "title": "Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutant.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Glerum DM, Tzagoloff A", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "8078902", "url": "https://glygen.org/publication/PubMed/8078902" } ] }, { "title": "Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.", "journal": "American journal of human genetics", "date": "1996", "authors": "Moran-Jimenez MJ, Ged C, Romana M, Enriquez De Salamanca R, Taieb A, Topi G, D'Alessandro L, de Verneuil H", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "8644733", "url": "https://glygen.org/publication/PubMed/8644733" } ] }, { "title": "A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family.", "journal": "Human genetics", "date": "1996", "authors": "Tanigawa K, Bensidhoum M, Takamura N, Namba H, Yamashita S, de Verneuil H, Ged C", "evidence": [ { "database": "UniProtKB", "id": "P10746", "url": "https://www.uniprot.org/uniprot/P10746" } ], "reference": [ { "type": "PubMed", "id": "8655129", "url": "https://glygen.org/publication/PubMed/8655129" } ] }, { "title": "Human protoporphyrinogen oxidase: expression, purification, and characterization of the cloned enzyme.", "journal": "Protein science : a publication of the Protein Society", "date": "1996", "authors": "Dailey TA, Dailey HA", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "8771201", "url": "https://glygen.org/publication/PubMed/8771201" } ] }, { "title": "Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene.", "journal": "Hum. 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