{ "uniprot_canonical_ac": "Q96N76-1", "uniprot_ac": "Q96N76", "uniprot_id": "HUTU_HUMAN", "mass": { "chemical_mass": 74831.0, "monoisotopic_mass": 74831.0 }, "refseq": { "ac": "NP_001159446", "name": "urocanate hydratase isoform 2", "summary": "This gene encodes an enzyme involved in the second step of histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. Deficiency of this enzyme results in urocanic aciduria, and is an apparent cause of mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2021].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159446" }, "gene_names": [ { "name": "UROC1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q96N76", "id": "Q96N76" }, { "name": "HMFN0320; UROCD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159446", "id": "NP_001159446" }, { "name": "UROC1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159446", "id": "NP_001159446" } ], "protein_names": [ { "name": "Urocanate hydratase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q96N76" }, { "name": "4.2.1.49", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q96N76" }, { "name": "Imidazolonepropionate hydrolase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q96N76" }, { "name": "Urocanase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q96N76" }, { "name": "imidazolonepropionate hydrolase; urocanase domain containing 1; urocanase 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159446", "id": "NP_001159446" }, { "name": "urocanate hydratase isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159446", "id": "NP_001159446" } ], "function": [ { "annotation": "This gene encodes an enzyme involved in the second step of histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. Deficiency of this enzyme results in urocanic aciduria, and is an apparent cause of mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2021].", "evidence": [ { "database": "RefSeq", "id": "NP_001159446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159446" } ] } ], "disease": [ { "disease_id": "DOID:0112180", "recommended_name": { "id": "DOID:0112180", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112180", "name": "urocanase deficiency", "description": "A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in the UROC1 gene on chromosome 3q21.3." }, "synonyms": [ { "id": "DOID:0112180", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112180", "name": "UROCD", "description": "" }, { "id": "DOID:0112180", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112180", "name": "encephalopathy due to urocanase deficiency", "description": "" }, { "id": "DOID:0112180", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112180", "name": "high urine urocanic acid levels", "description": "" }, { "id": "DOID:0112180", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112180", "name": "urocanate hydratase deficiency", "description": "" }, { "id": "DOID:0112180", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112180", "name": "urocanic aciduria", "description": "" }, { "id": "MONDO:0010167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010167", "name": "urocanic aciduria", "description": "Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date." }, { "id": "MONDO:0010167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010167", "name": "encephalopathy due to urocanase deficiency", "description": "" }, { "id": "MONDO:0010167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010167", "name": "urocanic aciduria", "description": "" }, { "id": "MONDO:0010167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010167", "name": "urocanic aciduria (disease)", "description": "" }, { "id": "MONDO:0010167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010167", "name": "UROCD", "description": "" }, { "id": "MONDO:0010167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010167", "name": "urocanase deficiency", "description": "" }, { "id": "MIM:276880", "resource": "MIM", "url": "https://www.omim.org/entry/276880", "name": "Urocanase deficiency", "description": "Urocanase deficiency" } ], "evidence": [ { "id": "276880", "database": "MIM", "url": "https://www.omim.org/entry/276880" } ] } ], "snv": [ { "evidence": [ { "id": "Q96N76", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q96N76" } ], "glycoeffect": [], "start_pos": 214, "end_pos": 214, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "126505974", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G214", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": 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"https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", 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"resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q96N76", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q96N76" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "Q96N76", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q96N76" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"" }, { "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": 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"categories": [ "Protein" ] }, { "id": "Q96N76-1", "url": "https://www.uniprot.org/uniprot/Q96N76-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q96N76-2", "url": "https://www.uniprot.org/uniprot/Q96N76-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSSLQALCSGLPLRPLPENRGRQAGVPHAPVRTPSLSPVEKQLALRNALRYFPPDVQELLAPEFAQELQLYGHIYMYRFCPDIEMRAYPIEQYPCQTKVAAAIMHMIMNNLDPAVAQFPQELVTYGGNGQVFSNWAQFWLTMFYLSKMTEEQTLVMYSGHPLGLFPSSRSAPRLVITNGMVIPNYSSRTEYEKLFALGVTMYGQMTAGSYCYIGPQGIVHGTVLTVLNAARRYLGIEDLAGKVFVTSGLGGMSGAQAKAAVIVGCIGVIAEVDKAALEKRHRQGWLMEVTDSLDRCIQRLREARKKKEVLSLGYHGNVVALWERLVHELDTTGECLVDLGSDQTSCHNPFNGGYYPVQLSFTEAQSLMASNPAVFKDLVQESLRRQVSAINRLAEEKFFFWDYGNAFLLEAQRAGADVEKKGAGRTEFRYPSYVQHIMGDIFSQGFGPFRWVCTSGDPQDLAVTDELATSVLEEAIADGVKVSVKLQYMDNIRWIREAARHRLVVGSQARILYSDQKGRVAIAVAINQAIACRRIKAPVVLSRDHHDVSGTDSPFRETSNIYDGSAFCADMAVQNFVGDACRGATWVALHNGGGVGWGEVINGGFGLVLDGTPEAEGRARLMLSWDVSNGVARRCWSGNQKAYEIICQTMQENSTLVVTLPHKVEDERVLQQALQL", "length": 676, "header": "sp|Q96N76-1|HUTU_HUMAN Isoform 1 of Urocanate hydratase OS=Homo sapiens OX=9606 GN=UROC1 PE=1 SV=1 CANONICAL=Q96N76-1" }, "isoforms": [ { "isoform_ac": "Q96N76-1", "url": "", "sequence": { "sequence": "MSSLQALCSGLPLRPLPENRGRQAGVPHAPVRTPSLSPVEKQLALRNALRYFPPDVQELLAPEFAQELQLYGHIYMYRFCPDIEMRAYPIEQYPCQTKVAAAIMHMIMNNLDPAVAQFPQELVTYGGNGQVFSNWAQFWLTMFYLSKMTEEQTLVMYSGHPLGLFPSSRSAPRLVITNGMVIPNYSSRTEYEKLFALGVTMYGQMTAGSYCYIGPQGIVHGTVLTVLNAARRYLGIEDLAGKVFVTSGLGGMSGAQAKAAVIVGCIGVIAEVDKAALEKRHRQGWLMEVTDSLDRCIQRLREARKKKEVLSLGYHGNVVALWERLVHELDTTGECLVDLGSDQTSCHNPFNGGYYPVQLSFTEAQSLMASNPAVFKDLVQESLRRQVSAINRLAEEKFFFWDYGNAFLLEAQRAGADVEKKGAGRTEFRYPSYVQHIMGDIFSQGFGPFRWVCTSGDPQDLAVTDELATSVLEEAIADGVKVSVKLQYMDNIRWIREAARHRLVVGSQARILYSDQKGRVAIAVAINQAIACRRIKAPVVLSRDHHDVSGTDSPFRETSNIYDGSAFCADMAVQNFVGDACRGATWVALHNGGGVGWGEVINGGFGLVLDGTPEAEGRARLMLSWDVSNGVARRCWSGNQKAYEIICQTMQENSTLVVTLPHKVEDERVLQQALQL", "length": 676, "header": "sp|Q96N76-1|HUTU_HUMAN Isoform 1 of Urocanate hydratase OS=Homo sapiens OX=9606 GN=UROC1 PE=1 SV=1 CANONICAL=Q96N76-1" }, "locus": { "chromosome": "3", "start_pos": 126517719, "end_pos": 126482348, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000290868.7", "url": "https://www.ensembl.org/id/ENST00000290868.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000290868.2", "url": "https://www.ensembl.org/id/ENSP00000290868.2" } ] } }, { "isoform_ac": "Q96N76-2", "url": "", "sequence": { "sequence": "MSSLQALCSGLPLRPLPENRGRQAGVPHAPVRTPSLSPVEKQLALRNALRYFPPDVQELLAPEFAQELQLYGHIYMYRFCPDIEMRAYPIEQYPCQTKVAAAIMHMIMNNLDPAVAQFPQELVTYGGNGQVFSNWAQFWLTMFYLSKMTEEQTLVMYSGHPLGLFPSSRSAPRLVITNGMVIPNYSSRTEYEKLFALGVTMYGQMTAGSYCYIGPQGIVHGTVLTVLNAARRYLGIEDLAGKVFVTSGLGGMSGAQAKAAVIVGCIGVIAEVDKAALEKRHRQGWLMEVTDSLDRCIQRLRVLQLGLQQALGWAGLPAALGLCVLSCFVNLAPLGEGRCLAPSGFSRPLLGAPVLLLCPSREARKKKEVLSLGYHGNVVALWERLVHELDTTGECLVDLGSDQTSCHNPFNGGYYPVQLSFTEAQSLMASNPAVFKDLVQESLRRQVSAINRLAEEKFFFWDYGNAFLLEAQRAGADVEKKGAGRTEFRYPSYVQHIMGDIFSQGFGPFRWVCTSGDPQDLAVTDELATSVLEEAIADGVKVSVKLQYMDNIRWIREAARHRLVVGSQARILYSDQKGRVAIAVAINQAIACRRIKAPVVLSRDHHDVSGTDSPFRETSNIYDGSAFCADMAVQNFVGDACRGATWVALHNGGGVGWGEVINGGFGLVLDGTPEAEGRARLMLSWDVSNGVARRCWSGNQKAYEIICQTMQENSTLVVTLPHKVEDERVLQQALQL", "length": 736, "header": "sp|Q96N76-2|HUTU_HUMAN Isoform 2 of Urocanate hydratase OS=Homo sapiens OX=9606 GN=UROC1 PE=1 SV=1 CANONICAL=Q96N76-1" }, "locus": { "chromosome": "3", "start_pos": 126517719, "end_pos": 126482348, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000383579.3", "url": "https://www.ensembl.org/id/ENST00000383579.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000373073.3", "url": "https://www.ensembl.org/id/ENSP00000373073.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 542, "start_aa": "Ser", "end_pos": 542, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser542", "evidence": [ { "id": "Q96N76", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96N76" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Cloning and characterization of human FTCD on 21q22.3, a candidate gene for glutamate formiminotransferase deficiency.", "journal": "Cytogenetics and cell genetics", "date": "2000", "authors": "Solans A, Estivill X, de la Luna S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "10773664", "url": "https://glygen.org/publication/PubMed/10773664" } ] }, { "title": "Two polymorphic forms of human histamine methyltransferase: structural, thermal, and kinetic comparisons.", "journal": "Structure (London, England : 1993)", "date": "2001", "authors": "Horton JR, Sawada K, Nishibori M, Zhang X, Cheng X", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "11566133", "url": "https://glygen.org/publication/PubMed/11566133" } ] }, { "title": "The molecular basis of glutamate formiminotransferase deficiency.", "journal": "Human mutation", "date": "2003", "authors": "Hilton JF, Christensen KE, Watkins D, Raby BA, Renaud Y, de la Luna S, Estivill X, MacKenzie RE, Hudson TJ, Rosenblatt DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "12815595", "url": "https://glygen.org/publication/PubMed/12815595" } ] }, { "title": "Functional analysis of alternatively spliced transcripts of the human histidine decarboxylase gene and its expression in human tissues and basophilic leukemia cells.", "journal": "European journal of biochemistry", "date": "1992", "authors": "Mamune-Sato R, Yamauchi K, Tanno Y, Ohkawara Y, Ohtsu H, Katayose D, Maeyama K, Watanabe T, Shibahara S, Takishima T", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "1425659", "url": "https://glygen.org/publication/PubMed/1425659" } ] }, { "title": "Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas.", "journal": "Oncogene", "date": "2004", "authors": "Yamada S, Ohira M, Horie H, Ando K, Takayasu H, Suzuki Y, Sugano S, Hirata T, Goto T, Matsunaga T, Hiyama E, Hayashi Y, Ando H, Suita S, Kaneko M, Sasaki F, Hashizume K, Ohnuma N, Nakagawara A", "evidence": [ { "database": "UniProtKB", "id": "Q96N76", "url": "https://www.uniprot.org/uniprot/Q96N76" }, { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "15221005", "url": "https://glygen.org/publication/PubMed/15221005" } ] }, { "title": "Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene.", "journal": "Human genetics", "date": "2005", "authors": "Kawai Y, Moriyama A, Asai K, Coleman-Campbell CM, Sumi S, Morishita H, Suchi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "15806399", "url": "https://glygen.org/publication/PubMed/15806399" } ] }, { "title": "The histamine N-methyltransferase T105I polymorphism affects active site structure and dynamics.", "journal": "Biochemistry", "date": "2008", "authors": "Rutherford K, Parson WW, Daggett V", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "18154359", "url": "https://glygen.org/publication/PubMed/18154359" } ] }, { "title": "Mutations in the urocanase gene UROC1 are associated with urocanic aciduria.", "journal": "J. Med. Genet.", "date": "2009", "authors": "Espinos C, Pineda M, Martinez-Rubio D, Lupo V, Ormazabal A, Vilaseca MA, Spaapen LJ, Palau F, Artuch R", "evidence": [ { "database": "UniProtKB", "id": "Q96N76", "url": "https://www.uniprot.org/uniprot/Q96N76" }, { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "19304569", "url": "https://glygen.org/publication/PubMed/19304569" } ] }, { "title": "Molecular identification of carnosine synthase as ATP-grasp domain-containing protein 1 (ATPGD1).", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Drozak J, Veiga-da-Cunha M, Vertommen D, Stroobant V, Van Schaftingen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "20097752", "url": "https://glygen.org/publication/PubMed/20097752" } ] }, { "title": "UPF0586 Protein C9orf41 Homolog Is Anserine-producing Methyltransferase.", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Drozak J, Piecuch M, Poleszak O, Kozlowski P, Chrobok L, Baelde HJ, de Heer E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "26001783", "url": "https://glygen.org/publication/PubMed/26001783" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q96N76", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96N76" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "The nucleotide sequence of porcine formiminotransferase cyclodeaminase. Expression and purification from Escherichia coli.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Murley LL, Mejia NR, MacKenzie RE", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "7901203", "url": "https://glygen.org/publication/PubMed/7901203" } ] }, { "title": "Structure and function of human histamine N-methyltransferase: critical enzyme in histamine metabolism in airway.", "journal": "The American journal of physiology", "date": "1994", "authors": "Yamauchi K, Sekizawa K, Suzuki H, Nakazawa H, Ohkawara Y, Katayose D, Ohtsu H, Tamura G, Shibahara S, Takemura M, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "7943261", "url": "https://glygen.org/publication/PubMed/7943261" } ] } ], "pathway": [ { "id": "hsa:131669", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:131669", "resource": "KEGG Pathway" }, { "id": "R-HSA-70921", "name": "Histidine catabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921", "resource": "Reactome", "description": "Histidine catabolism" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZIC2-1", "protein_name": "urocanate hydratase", "gene_name": "Uroc1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSSLQELCSGLPLRPLPENRGRWAGVPHAPVRTPDLSPEEEQLALRNALRYFPPDVQKLLALEFAQELRQFGHIYMYRFCPSIEMRAYPIEQYPCRTRAAAAIMHMIMNNLDPAVAQFPQELVTYGGNGQVFSNWAQFWLTMSYLSKMTEEQTLVMYSGHPLGLFPSSSHAPRLVITNGMVIPNYSSRTEYEKLFALGVTMYGQMTAGSYCYIGPQGIVHGTVLTVLNAGRRYLGIEDLAGKVFVTSGLGGMSGAQAKAAVIVGCIGVIAEVDKAALVKRHQQGWLMEVTDSLDHCIARLREARKKKEVLSLGYHGNVVDLWERLVHELDTTGELLVDLGSDQTSCHNPFNGGYYPVQLSFSEAQSLMSSNPAAFKNLVQESLRRHISAINRLAQEKFFFWDYGNAFLLEAQRAGADVEKKGANKTEFRYPSYVQHIMGDIFSQGFGPFRWVCTSGNPQDLTVTDHLATSVLEKAIADGVKASVKLQYMDNIRWIREAAKHQLVVGSQARILYSDQKGRVAIAVAINQAIASGKIKAPVVLSRDHHDVSGTDSPFRETSNIYDGSAFCADMAVQNFVGDACRGATWVALHNGGGVGWGEVINGGFGLVLDGTPEAEQKARMMLSWDVSNGVARRCWSGNPKAYEIICQTMQENSGLVVTLPHEVADEQVLRQVLRL", "length": 676 }, "evidence": [ { "id": "45238296", "url": "http://www.informatics.jax.org/homology/45238296", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8VC12-1", "protein_name": "Urocanate hydratase", "gene_name": "Uroc1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSSLQELCSGLPLRPLPENRGRWAGVPHAPVRTPNLSPEEEQLALRNALRYFPPDVQKLLALEFAQELRQFGHIYMYRFCPSIEMRAYPIDQYPCRTRAAAAIMHMIMNNLDPAVAQFPQELVTYGGNGQVFSNWAQFRLTMSYLSKMTEEQTLVMYSGHPLGLFPSSPRAPRLVITNGMVIPNYSSRTEYEKLFALGVTMYGQMTAGSYCYIGPQGIVHGTVLTVLNAGRRYLGIENLAGKVFVTSGLGGMSGAQAKAAAIVGCIGVIAEVDKAALVKRHRQGWLMEVTDSLDRCIARLREARKKKEVLSLGYHGNVVDLWERLVHELDTTGELLVDLGSDQTSCHNPFNGGYYPVQLSFSEAQSLMSSNPAAFKHLVQESLRRHVAAINRLAQEKFFFWDYGNAFLLEAQRAGADVEKKGANKMEFRYPSYVQHIMGDIFSQGFGPFRWVCTSGDPQDLAVTDHLATSVLEKAIADGVKASVKLQYMDNIRWIREAAKHQLVVGSQARILYSDQKGRVAIAVAINQAIASGKIKAPVVLSRDHHDVSGTDSPFRETSNIYDGSAFCADMAVQNFVGDACRGATWVALHNGGGVGWGEVINGGFGLVLDGTAEAEQKARMMLSWDVSNGVARRCWSGNPKAYEIICQTMQENSGLVVTLPHEVADEQVLQQALRP", "length": 676 }, "evidence": [ { "id": "45238296", "url": "http://www.informatics.jax.org/homology/45238296", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "urocanate hydratase activity", "id": "GO:0016153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016153", "evidence": [ { "database": "UniProtKB", "id": "Q96N76", "url": "https://www.uniprot.org/uniprot/Q96N76" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q96N76", "url": "https://www.uniprot.org/uniprot/Q96N76" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "histidine catabolic process to glutamate and formamide", "id": "GO:0019556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019556", "evidence": [ { "database": "UniProtKB", "id": "Q96N76", "url": "https://www.uniprot.org/uniprot/Q96N76" } ], "pmid": "" }, { "name": "histidine catabolic process to glutamate and formate", "id": "GO:0019557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019557", "evidence": [ { "database": "UniProtKB", "id": "Q96N76", "url": "https://www.uniprot.org/uniprot/Q96N76" } ], "pmid": "" }, { "name": "histidine catabolic process", "id": "GO:0006548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006548", "evidence": [ { "database": "UniProtKB", "id": "Q96N76", "url": "https://www.uniprot.org/uniprot/Q96N76" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 184, "end_pos": 186, "annotation": "n_glycosylation_sequon" }, { "start_pos": 653, "end_pos": 655, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "13101", "name": "", "equation": "4-imidazolone-5-propanoate = H2O + trans-urocanate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "D3ZIC2-1", "Q96N76-1", "Q8VC12-1", "Q86AX3-1" ], "evidence": [ { "id": "13101", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/13101" } ] }, { "id": "R-HSA-70903", "name": "urocanate + H2O => 4-imidazolone-5-propionate", "equation": "", "summary": "Cytosolic urocanate hydratase (UROC1) catalyzes the hydrolysis of urocanate to form 4-imidazolone-5-propanoate. Human UROC1 was first identified in surveys of genes differentially expressed in hepatoblastoma (Yamamda et al. 2004). Recent biochemical and molecular studies of UROC1 protein and cDNA from a patient with urocanic aciduria has confirmed the function of UROC1 in vivo (Espinos et al. 2009).", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-30721" ], "output_participant_list": [ "R-ALL-34979" ], "enzyme_list": [ "Q96N76-1" ], "evidence": [ { "id": "R-HSA-70903", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70903" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-30721", "participant_name": "UCA [cytosol]", "crossref": [ { "id": "30817", "database": "ChEBI", "url": "" }, { "id": "8145216", "database": "PubChem Substance", "url": "" }, { "id": "HMDB0000301", "database": "HMDB Metabolite", "url": "" }, { "id": "000034633903", "database": "ZINC", "url": "" }, { "id": "C00785", "database": "COMPOUND", "url": "" }, { "id": "C00785", "database": "COMPOUND", "url": "" }, { "id": "30817", "database": "ChEBI", "url": "" }, { "id": "000034633903", 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