{ "uniprot_canonical_ac": "P00492-1", "uniprot_ac": "P00492", "uniprot_id": "HPRT_HUMAN", "mass": { "chemical_mass": 24579.0, "monoisotopic_mass": 24579.0 }, "refseq": { "ac": "NP_000185", "name": "hypoxanthine-guanine phosphoribosyltransferase", "summary": "The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.[provided by RefSeq, Jun 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000185" }, "gene_names": [ { "name": "HPRT1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P00492", "id": "P00492" }, { "name": "HGPRT; HPRT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000185", "id": "NP_000185" }, { "name": "HPRT1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000185", "id": "NP_000185" }, { "name": "HPRT", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P00492", "id": "P00492" } ], "protein_names": [ { "name": "Hypoxanthine-guanine phosphoribosyltransferase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P00492" }, { "name": "2.4.2.8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00492" }, { "name": "HGPRTase; hypoxanthine-guanine phosphoribosyltransferase 1; testicular tissue protein Li 89; hypoxanthine guanine phosphoribosyl transferase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000185", "id": "NP_000185" }, { "name": "HGPRTase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00492" }, { "name": "HGPRT", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00492" }, { "name": "hypoxanthine-guanine phosphoribosyltransferase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000185", "id": "NP_000185" } ], "function": [ { "annotation": "Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through the purine salvage pathway.", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492#function" } ] }, { "annotation": "Expression variation of OGG1 and HPRT gene and DNA damage in arsenic exposed industrial workers. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000185", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000185" }, { "database": "PubMed", "id": "36178927", "url": "https://glygen.org/publication/PubMed/36178927" } ] }, { "annotation": "Hypoxanthine phosphoribosyl transferase 1 metabolizes temozolomide to activate AMPK for driving chemoresistance of glioblastomas. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000185", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000185" }, { "database": "PubMed", "id": "37737247", "url": "https://glygen.org/publication/PubMed/37737247" } ] }, { "annotation": "Hypoxanthine-guanine phosphoribosyltransferase is activated via positive cooperativity between guanine and IMP.", "evidence": [ { "database": "RefSeq", "id": "NP_000185", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000185" }, { "database": "PubMed", "id": "35114018", "url": "https://glygen.org/publication/PubMed/35114018" } ] }, { "annotation": "The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.[provided by RefSeq, Jun 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_000185", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000185" } ] } ], "disease": [ { "disease_id": "DOID:0112127", "recommended_name": { "id": "DOID:0112127", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112127", "name": "HRPT-related hyperuricemia", "description": "A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in the HPRT1 gene on chromosome Xq26.2-q26.3." }, "synonyms": [ { "id": "DOID:0112127", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112127", "name": "HPRT-related gout", "description": "" }, { "id": "DOID:0112127", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112127", "name": "Kelley-Seegmiller syndrome", "description": "" }, { "id": "DOID:0112127", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112127", "name": "hypoxanthine guanine phosphoribosyltransferase deficiency, grade I", "description": "" }, { "id": "DOID:0112127", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112127", "name": "HPRT deficiency, grade I", "description": "" }, { "id": "DOID:0112127", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112127", "name": "HPRT partial deficiency", "description": "" }, { "id": "DOID:0112127", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112127", "name": "HPRT-related hyperuricemia", "description": "" }, { "id": "DOID:0112127", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112127", "name": "HPRT1 partial deficiency", "description": "" }, { "id": "DOID:0112127", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112127", "name": "hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency", "description": "" }, { "id": "DOID:0112127", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112127", "name": "hypoxanthine guanine phosphoribosyltransferase partial deficiency", "description": "" }, { "id": "MONDO:0010299", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010299", "name": "hypoxanthine guanine phosphoribosyltransferase partial deficiency", "description": "Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." }, { "id": "MONDO:0010299", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010299", "name": "HPRT deficiency, grade I", "description": "" }, { "id": "MONDO:0010299", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010299", "name": "HPRT partial deficiency", "description": "" }, { "id": "MONDO:0010299", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010299", "name": "HPRT-related gout", "description": "" }, { "id": "MONDO:0010299", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010299", "name": "HPRT-related hyperuricemia", "description": "" }, { "id": "MONDO:0010299", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010299", "name": "HPRT1 partial deficiency", "description": "" }, { "id": "MONDO:0010299", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010299", "name": "Kelley-Seegmiller syndrome", "description": "" }, { "id": "MONDO:0010299", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010299", "name": "hyperuricemia, HRPT-related, X-linked recessive", "description": "" }, { "id": "MONDO:0010299", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010299", "name": "hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency", "description": "" }, { "id": "MONDO:0010299", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010299", "name": "hypoxanthine guanine phosphoribosyltransferase deficiency, grade I", "description": "" }, { "id": "MONDO:0010299", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010299", "name": "HPRT deficiency, partial", "description": "" }, { "id": "MONDO:0010299", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010299", "name": "Hprt1 deficiency, partial", "description": "" }, { "id": "MONDO:0010299", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010299", "name": "KELLEY-Seegmiller syndrome", "description": "" }, { "id": "MONDO:0010299", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010299", "name": "gout, HPRT-related", "description": "" }, { "id": "MONDO:0010299", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010299", "name": "hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial", "description": "" }, { "id": "MIM:300323", "resource": "MIM", "url": "https://www.omim.org/entry/300323", "name": "Hyperuricemia, HPRT-related", "description": "Hyperuricemia, HPRT-related" } ], "evidence": [ { "id": "300323", "database": "MIM", "url": "https://www.omim.org/entry/300323" } ] }, { "disease_id": "DOID:1919", "recommended_name": { "id": "DOID:1919", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1919", "name": "Lesch-Nyhan syndrome", "description": "A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the hypoxanthine guanine phosphoribosyltransferase (HPRT) gene on chromosome Xq26." }, "synonyms": [ { "id": "DOID:1919", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1919", "name": "Hypoxanthine-guanine phosphoribosyltransferase deficiency", "description": "" }, { "id": "DOID:1919", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1919", "name": "HG-PRT deficiency", "description": "" }, { "id": "DOID:1919", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1919", "name": "Lesch - Nyhan syndrome", "description": "" }, { "id": "DOID:1919", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1919", "name": "X-linked hyperuricemia", "description": "" }, { "id": "DOID:1919", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1919", "name": "deficiency of IMP pyrophosphorylase", "description": "" }, { "id": "DOID:1919", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1919", "name": "hypoxanthine guanine phosphoribosyltransferase deficiency", "description": "" }, { "id": "DOID:1919", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1919", "name": "Complete hypoxanthine-guanine phosphoribosyltransferase deficiency", "description": "" }, { "id": "DOID:1919", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1919", "name": "Hypoxanthine-guanine-phosphoribosyltransferase deficiency", "description": "" }, { "id": "MONDO:0010298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010298", "name": "Lesch-Nyhan syndrome", "description": "Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." }, { "id": "MONDO:0010298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010298", "name": "HG-PRT deficiency", "description": "" }, { "id": "MONDO:0010298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010298", "name": "HPRT complete deficiency", "description": "" }, { "id": "MONDO:0010298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010298", "name": "HPRT deficiency grade IV", "description": "" }, { "id": "MONDO:0010298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010298", "name": "Lesch - Nyhan syndrome", "description": "" }, { "id": "MONDO:0010298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010298", "name": "Lesch-Nyhan syndrome", "description": "" }, { "id": "MONDO:0010298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010298", "name": "Lesch-Nyhan syndrome, X-linked recessive", "description": "" }, { "id": "MONDO:0010298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010298", "name": "X-linked hyperuricemia", "description": "" }, { "id": "MONDO:0010298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010298", "name": "X-linked hyperuricemia (disorder) [ambiguous]", "description": "" }, { "id": "MONDO:0010298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010298", "name": "complete hypoxanthine-guanine phosphoribosyltransferase deficiency", "description": "" }, { "id": "MONDO:0010298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010298", "name": "deficiency of IMP pyrophosphorylase", "description": "" }, { "id": "MONDO:0010298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010298", "name": "hypoxanthine guanine phosphoribosyltransferase complete deficiency", "description": "" }, { "id": "MONDO:0010298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010298", "name": "hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV", "description": "" }, { "id": "MONDO:0010298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010298", "name": "HPRT deficiency", "description": "" }, { "id": "MONDO:0010298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010298", "name": "HPRT deficiency, complete", "description": "" }, { "id": "MONDO:0010298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010298", "name": "HPRT deficiency, neurologic variant", "description": "" }, { "id": "MONDO:0010298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010298", "name": "Hprt1 deficiency", "description": "" }, { "id": "MONDO:0010298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010298", "name": "LNS", "description": "" }, { "id": "MONDO:0010298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010298", "name": "Lesch Nyhan disease", "description": "" }, { "id": "MONDO:0010298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010298", "name": "Lesch Nyhan syndrome", "description": "" }, { "id": "MONDO:0010298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010298", "name": "Lesch-Nyhan syndrome, neurologic variant", "description": "" }, { "id": "MONDO:0010298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010298", "name": "hypoxanthine guanine phospho-ribosyltransferase 1 deficiency", "description": "" }, { "id": "MONDO:0010298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010298", "name": "hypoxanthine guanine phosphoribosyltransferase 1 deficiency", "description": "" }, { "id": "MONDO:0010298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010298", "name": "hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome])", "description": "" }, { "id": "MIM:300322", "resource": "MIM", "url": "https://www.omim.org/entry/300322", "name": "Lesch-Nyhan syndrome", "description": "Lesch-Nyhan syndrome" } ], "evidence": [ { "id": "300322", "database": "MIM", "url": "https://www.omim.org/entry/300322" } ] } ], "snv": [ { "evidence": [ { "id": "P00492", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P00492" } ], "glycoeffect": [], "start_pos": 48, "end_pos": 48, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "X", "chr_pos": "134475189", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R48", "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. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] }, { "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": 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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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"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 - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P00492", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00492" } ], "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 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"name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P00492", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00492" } ], "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/P00492" } ], "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": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00492" } ], "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": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" } ] } ], "phosphorylation": [ { "start_pos": 124, "end_pos": 124, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P00492", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00492" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr124" }, { "start_pos": 126, "end_pos": 126, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P00492", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00492" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr126" }, { "start_pos": 142, "end_pos": 142, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" }, { "database": "iPTMnet", "id": "P00492", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00492" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr142" }, { "start_pos": 145, "end_pos": 145, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P00492", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00492" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr145" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Ternary complex structure of human HGPRTase, PRPP, Mg2+, and the inhibitor HPP reveals the involvement of the flexible loop in substrate binding.", "journal": "Protein science : a publication of the Protein Society", "date": "1999", "authors": "Balendiran GK, Molina JA, Xu Y, Torres-Martinez J, Stevens R, Focia PJ, Eakin AE, Sacchettini JC, Craig SP 3rd", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "reference": [ { "type": "PubMed", "id": "10338013", "url": "https://glygen.org/publication/PubMed/10338013" } ] }, { "title": "The 2.0 A structure of human hypoxanthine-guanine phosphoribosyltransferase in complex with a transition-state analog inhibitor.", "journal": "Nat. Struct. Biol.", "date": "1999", "authors": "Shi W, Li C M, Tyler P C, Furneaux R H, Grubmeyer C, Schramm V L, Almo S C", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "reference": [ { "type": "PubMed", "id": "10360366", "url": "https://glygen.org/publication/PubMed/10360366" } ] }, { "title": "Multidrug-resistance protein 5 is a multispecific organic anion transporter able to transport nucleotide analogs.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Wijnholds J, Mol CA, van Deemter L, de Haas M, Scheffer GL, Baas F, Beijnen JH, Scheper RJ, Hatse S, De Clercq E, Balzarini J, Borst P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "10840050", "url": "https://glygen.org/publication/PubMed/10840050" } ] }, { "title": "Structural basis for substrate specificities of cellular deoxyribonucleoside kinases.", "journal": "Nature structural biology", "date": "2001", "authors": "Johansson K, Ramaswamy S, Ljungcrantz C, Knecht W, Piskur J, Munch-Petersen B, Eriksson S, Eklund H", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "11427893", "url": "https://glygen.org/publication/PubMed/11427893" } ] }, { "title": "NADPH-dependent GMP reductase isoenzyme of human (GMPR2). Expression, purification, and kinetic properties.", "journal": "The international journal of biochemistry & cell biology", "date": "2002", "authors": "Deng Y, Wang Z, Ying K, Gu S, Ji C, Huang Y, Gu X, Wang Y, Xu Y, Li Y, Xie Y, Mao Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "12009299", "url": "https://glygen.org/publication/PubMed/12009299" } ] }, { "title": "Thiopurine metabolism and identification of the thiopurine metabolites transported by MRP4 and MRP5 overexpressed in human embryonic kidney cells.", "journal": "Molecular pharmacology", "date": "2002", "authors": "Wielinga PR, Reid G, Challa EE, van der Heijden I, van Deemter L, de Haas M, Mol C, Kuil AJ, Groeneveld E, Schuetz JD, Brouwer C, De Abreu RA, Wijnholds J, Beijnen JH, Borst P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "12435799", "url": "https://glygen.org/publication/PubMed/12435799" } ] }, { "title": "CD28-dependent Rac1 activation is the molecular target of azathioprine in primary human CD4+ T lymphocytes.", "journal": "The Journal of clinical investigation", "date": "2003", "authors": "Tiede I, Fritz G, Strand S, Poppe D, Dvorsky R, Strand D, Lehr HA, Wirtz S, Becker C, Atreya R, Mudter J, Hildner K, Bartsch B, Holtmann M, Blumberg R, Walczak H, Iven H, Galle PR, Ahmadian MR, Neurath MF", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "12697733", "url": "https://glygen.org/publication/PubMed/12697733" } ] }, { "title": "A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: missense mutations within a functionally important region probably cause disease.", "journal": "Human genetics", "date": "1992", "authors": "Fujimori S, Tagaya T, Kamatani N, Akaoka I", "evidence": [ { "database": "Reactome", "id": "R-HSA-9734281", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9734281" } ], "reference": [ { "type": "PubMed", "id": "1282899", "url": "https://glygen.org/publication/PubMed/1282899" } ] }, { "title": "Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency.", "journal": "Hum. Mol. Genet.", "date": "1992", "authors": "Sege-Peterson K, Chambers J, Page T, Jones OW, Nyhan WL", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "reference": [ { "type": "PubMed", "id": "1301916", "url": "https://glygen.org/publication/PubMed/1301916" } ] }, { "title": "Molecular cloning of AMP deaminase isoform L. Sequence and bacterial expression of human AMPD2 cDNA.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Bausch-Jurken MT, Mahnke-Zizelman DK, Morisaki T, Sabina RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "1429593", "url": "https://glygen.org/publication/PubMed/1429593" } ] }, { "title": "A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.", "journal": "Hum. Genet.", "date": "1992", "authors": "Sculley DG, Dawson PA, Emmerson BT, Gordon RB", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "reference": [ { "type": "PubMed", "id": "1487231", "url": "https://glygen.org/publication/PubMed/1487231" } ] }, { "title": "The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction.", "journal": "Human genetics", "date": "1992", "authors": "Lightfoot T, Joshi R, Nuki G, Snyder FF", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "reference": [ { "type": "PubMed", "id": "1551676", "url": "https://glygen.org/publication/PubMed/1551676" } ] }, { "title": "Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.", "journal": "Nucleosides, nucleotides & nucleic acids", "date": "2004", "authors": "Yamada Y, Yamada K, Sonta S, Wakamatsu N, Ogasawara N", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "reference": [ { "type": "PubMed", "id": "15571223", "url": "https://glygen.org/publication/PubMed/15571223" } ] }, { "title": "Cellular export of drugs and signaling molecules by the ATP-binding cassette transporters MRP4 (ABCC4) and MRP5 (ABCC5).", "journal": "Drug metabolism reviews", "date": "2005", "authors": "Ritter CA, Jedlitschky G, Meyer zu Schwabedissen H, Grube M, Kock K, Kroemer HK", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "15747503", "url": "https://glygen.org/publication/PubMed/15747503" } ] }, { "title": "Recognition and activation of Rho GTPases by Vav1 and Vav2 guanine nucleotide exchange factors.", "journal": "Biochemistry", "date": "2005", "authors": "Heo J, Thapar R, Campbell SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "15850391", "url": "https://glygen.org/publication/PubMed/15850391" } ] }, { "title": "The crystal structure of free human hypoxanthine-guanine phosphoribosyltransferase reveals extensive conformational plasticity throughout the catalytic cycle.", "journal": "J. Mol. Biol.", "date": "2005", "authors": "Keough Dianne T, Brereton Ian M, de Jersey John, Guddat Luke W", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "reference": [ { "type": "PubMed", "id": "15990111", "url": "https://glygen.org/publication/PubMed/15990111" } ] }, { "title": "Crystal structure of human guanosine monophosphate reductase 2 (GMPR2) in complex with GMP.", "journal": "Journal of molecular biology", "date": "2006", "authors": "Li J, Wei Z, Zheng M, Gu X, Deng Y, Qiu R, Chen F, Ji C, Gong W, Xie Y, Mao Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "16359702", "url": "https://glygen.org/publication/PubMed/16359702" } ] }, { "title": "Involvement of the concentrative nucleoside transporter 3 and equilibrative nucleoside transporter 2 in the resistance of T-lymphoblastic cell lines to thiopurines.", "journal": "Biochemical and biophysical research communications", "date": "2006", "authors": "Fotoohi AK, Lindqvist M, Peterson C, Albertioni F", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "16530731", "url": "https://glygen.org/publication/PubMed/16530731" } ] }, { "title": "Divergent activities of human glutathione transferases in the bioactivation of azathioprine.", "journal": "Molecular pharmacology", "date": "2006", "authors": "Eklund BI, Moberg M, Bergquist J, Mannervik B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "16717136", "url": "https://glygen.org/publication/PubMed/16717136" } ] }, { "title": "Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.", "journal": "Molecular genetics and metabolism", "date": "2007", "authors": "Yamada Y, Nomura N, Yamada K, Wakamatsu N", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "reference": [ { "type": "PubMed", "id": "17027311", "url": "https://glygen.org/publication/PubMed/17027311" } ] }, { "title": "Human xanthine oxidase changes its substrate specificity to aldehyde oxidase type upon mutation of amino acid residues in the active site: roles of active site residues in binding and activation of purine substrate.", "journal": "Journal of biochemistry", "date": "2007", "authors": "Yamaguchi Y, Matsumura T, Ichida K, Okamoto K, Nishino T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "17301077", "url": "https://glygen.org/publication/PubMed/17301077" } ] }, { "title": "Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients.", "journal": "Nucleosides, nucleotides & nucleic acids", "date": "2007", "authors": "Larovere LE, O'Neill JP, Randall M, Fairbanks LD, Guelbert N, Czornyj L, de Kremer RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-9734281", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9734281" } ], "reference": [ { "type": "PubMed", "id": "17454734", "url": "https://glygen.org/publication/PubMed/17454734" } ] }, { "title": "Up-regulation of MRP4 and down-regulation of influx transporters in human leukemic cells with acquired resistance to 6-mercaptopurine.", "journal": "Leukemia research", "date": "2008", "authors": "Peng XX, Shi Z, Damaraju VL, Huang XC, Kruh GD, Wu HC, Zhou Y, Tiwari A, Fu L, Cass CE, Chen ZS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "17996297", "url": "https://glygen.org/publication/PubMed/17996297" } ] }, { "title": "Structural complexes of human adenine phosphoribosyltransferase reveal novel features of the APRT catalytic mechanism.", "journal": "Journal of biomolecular structure & dynamics", "date": "2008", "authors": "Silva CH, Silva M, Iulek J, Thiemann OH", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "18399692", "url": "https://glygen.org/publication/PubMed/18399692" } ] }, { "title": "Identification of two independent Japanese mutant HPRT genes using the PCR technique.", "journal": "Advances in experimental medicine and biology", "date": "1991", "authors": "Yamada Y, Goto H, Ogasawara N", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "reference": [ { "type": "PubMed", "id": "1840476", "url": "https://glygen.org/publication/PubMed/1840476" } ] }, { "title": "Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification.", "journal": "Hum. 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Genetic evidence for identical mutations in two partially deficient subjects.", "journal": "The Journal of clinical investigation", "date": "1988", "authors": "Davidson BL, Chin SJ, Wilson JM, Kelley WN, Palella TD", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "reference": [ { "type": "PubMed", "id": "3198771", "url": "https://glygen.org/publication/PubMed/3198771" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P00492", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P00492" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "MutT homologue 1 (MTH1) removes N6-methyl-dATP from the dNTP pool.", "journal": "The Journal of biological chemistry", "date": "2020", "authors": "Scaletti ER, Vallin KS, Brautigam L, Sarno A, Warpman Berglund U, Helleday T, Stenmark P, Jemth AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "32144205", "url": "https://glygen.org/publication/PubMed/32144205" } ] }, { "title": "Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland).", "journal": "Gene", "date": "1988", "authors": "Davidson BL, Palella TD, Kelley WN", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "reference": [ { "type": "PubMed", "id": "3265398", "url": "https://glygen.org/publication/PubMed/3265398" } ] }, { "title": "Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT Munich.", "journal": "American journal of human genetics", "date": "1988", "authors": "Cariello NF, Scott JK, Kat AG, Thilly WG, Keohavong P", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "reference": [ { "type": "PubMed", "id": "3358423", "url": "https://glygen.org/publication/PubMed/3358423" } ] }, { "title": "Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint).", "journal": "Gene", "date": "1988", "authors": "Davidson BL, Pashmforoush M, Kelley WN, Palella TD", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "reference": [ { "type": "PubMed", "id": "3384338", "url": "https://glygen.org/publication/PubMed/3384338" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. 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218 }, "evidence": [ { "id": "45930112", "url": "http://www.informatics.jax.org/homology/45930112", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q45FY6-1", "protein_name": "Hypoxanthine-guanine phosphoribosyltransferase", "gene_name": "HPRT1", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MATRSPSVVISDDEPGYDLDLFCIPNHYAEDLEKVFIPHGLIMDRTERLARDVMKEMGGHHIVALCVLKGGYKFFADLLDYIKALNRNSDRSIPMTVDFIRLKSYCNDQSTGDIKVIGGDDLSTLTGKNVLIVEDIIDTGKTMQTLLSLVKQHNPKMVKVASLLVKRTPRSVGYRPDFVGFEIPDKFVVGYALDYNEYFRDLNHVCVISETGKAKYKA", "length": 218 }, "evidence": [ { "id": "P00492", "url": "https://omabrowser.org/oma/group/P00492/", "database": "OMA" } ], "common_name": "Pig" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" }, { "name": "nucleotide binding", "id": "GO:0000166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000166", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" }, { "name": "hypoxanthine phosphoribosyltransferase activity", "id": "GO:0004422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004422", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" }, { "name": "guanine phosphoribosyltransferase activity", "id": "GO:0052657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052657", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 24, "go_terms": [ { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" }, { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" }, { "name": "response to amphetamine", "id": "GO:0001975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001975", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" }, { "name": "IMP metabolic process", "id": "GO:0046040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046040", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" }, { "name": "hypoxanthine salvage", "id": "GO:0043103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043103", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" }, { "name": "AMP salvage", "id": "GO:0044209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044209", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" }, { "name": "IMP salvage", "id": "GO:0032264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032264", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" }, { "name": "dopamine metabolic process", "id": "GO:0042417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042417", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" }, { "name": "positive regulation of dopamine metabolic process", "id": "GO:0045964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045964", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" }, { "name": "purine ribonucleoside salvage", "id": "GO:0006166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006166", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" }, { "name": "grooming behavior", "id": "GO:0007625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007625", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" }, { "name": "central nervous system neuron development", "id": "GO:0021954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021954", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" }, { "name": "T cell mediated cytotoxicity", "id": "GO:0001913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001913", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" }, { "name": "cerebral cortex neuron differentiation", "id": "GO:0021895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021895", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" }, { "name": "lymphocyte proliferation", "id": "GO:0046651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046651", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" }, { "name": "striatum development", "id": "GO:0021756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021756", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" }, { "name": "purine nucleotide biosynthetic process", "id": "GO:0006164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006164", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" }, { "name": "dopaminergic neuron differentiation", "id": "GO:0071542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071542", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" }, { "name": "adenine metabolic process", "id": "GO:0046083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046083", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" }, { "name": "guanine salvage", "id": "GO:0006178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006178", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" }, { "name": "GMP catabolic process", "id": "GO:0046038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046038", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" }, { "name": "hypoxanthine metabolic process", "id": "GO:0046100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046100", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" }, { "name": "GMP salvage", "id": "GO:0032263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032263", "evidence": [ { "database": "UniProtKB", "id": "P00492", "url": "https://www.uniprot.org/uniprot/P00492" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "17973", "name": "", "equation": "diphosphate + IMP = 5-phospho-alpha-D-ribose 1-diphosphate + hypoxanthine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P27605-1", "A0A8I6GKT2-1", "P00492-1", "P00493-1", "Q04178-1", "Q54NJ8-1" ], "evidence": [ { "id": "17973", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/17973" } ] }, { "id": "25424", "name": "", "equation": "diphosphate + GMP = 5-phospho-alpha-D-ribose 1-diphosphate + guanine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P27605-1", "P00492-1", "P00493-1", "Q04178-1", "Q54NJ8-1" ], "evidence": [ { "id": "25424", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/25424" } ] }, { "id": "R-HSA-74215", "name": "HPRT1 catalyzes the conversion of guanine or hypoxanthine to GMP or IMP", "equation": "", "summary": "Cytosolic hypoxanthine-guanine phosphoribosyltransferase (HPRT1) tetramer catalyzes the reactions of guanine or hypoxanthine with PRPP to form GMP ir IMP and pyrophosphate (Holden and Kelley 1978; Jolly et al. 1983).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00492-1" ], "evidence": [ { "id": "R-HSA-74215", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74215" } ] }, { "id": "R-HSA-9734274", "name": "Defective HPRT1 does not convert guanine or hypoxanthine to GMP or IMP", "equation": "", "summary": "Normally in humans, guanine and hypoxanthine can be salvaged by conversion to GMP and IMP, catalyzed by HPRT1 (hypoxanthine guanine phosphoribosyltransferase). In the absence of HPRT1 activity, however, accumulated guanine and hypoxanthine are catabolized by XDH (xanthine dehydrogenase / oxidase) to urate. Hundreds of variants in HPRT1 have been identified, associated with phenotypes ranging from Lesch-Nyhan Syndrome in individuals with little or no HPRT1 activity, to hyperuricemia and gout in individuals with higher levels of HPRT1 activity. Here, we have annotated the failure of normal guanine and hypoxanthine salvage reactions due to three missense mutant alleles of HPRT1, originally identified in patients with Lesch-Nyhan Syndrome (Davidson et al. 1989, Fujimori et al. 1992, Lar\u00f3vere et al. 2007) and shown when expressed in vitro to encode proteins with no detectable catalytic activity (Fu & Jinnah 2012).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00492-1" ], "evidence": [ { "id": "R-HSA-9734274", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9734274" } ] }, { "id": "R-HSA-9748951", "name": "HPRT1 tetramer transfers phosphoribosyl group to 6MP to form 6TIMP", "equation": "", "summary": "6-mercaptopurine (6MP) can be metabolized via three competing pathways; oxidation by xanthine oxidase (XDH), methylation by thiopurine methyl S-transferase (TPMT) and conversion by hypoxanthine-guanine phosphoribosyltransferase (HPRT1).

Hypoxanthine-guanine phosphoribosyltransferase tetramer (HPRT1) catalyzes the transfer of phosphoribosyl from 5-phosphoribosyl 1-pyrophosphate (PRPP) to 6-mercaptopurine (6MP), to form 6-thioinosine 5\u2019-monophosphate (6TIMP) (Krenitsky et al. 1969, Xu et al. 1997). This is the metabolic branch for the formation of the pharmacologically active 6-thioguanine nucleotides (6-TGNs).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00492-1" ], "evidence": [ { "id": "R-HSA-9748951", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748951" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A0A8I6GKT2", "gene_name": "Prtfdc1", "activity": [ { "ec_number": "2.4.2.8", "activity": "diphosphate + GMP = 5-phospho-alpha-D-ribose 1-diphosphate + guanine.", "evidence": [ { "id": "A0A8I6GKT2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6GKT2" } ] }, { "ec_number": "2.4.2.8", "activity": "", "evidence": [ { "id": "A0A8I6GKT2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6GKT2" } ] } ] }, { "uniprot_ac": "P00492", "gene_name": "HPRT1", "activity": [ { "ec_number": "2.4.2.8", "activity": "diphosphate + GMP = 5-phospho-alpha-D-ribose 1-diphosphate + guanine.", "evidence": [ { "id": "P00492", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00492" } ] }, { "ec_number": "2.4.2.8", "activity": "", "evidence": [ { "id": "P00492", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00492" } ] } ] }, { "uniprot_ac": "P00493", "gene_name": "Hprt1", "activity": [ { "ec_number": "2.4.2.8", "activity": "diphosphate + GMP = 5-phospho-alpha-D-ribose 1-diphosphate + guanine.", "evidence": [ { "id": "P00493", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00493" } ] }, { "ec_number": "2.4.2.8", "activity": "", "evidence": [ { "id": "P00493", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00493" } ] } ] }, { "uniprot_ac": "P27605", "gene_name": "Hprt1", "activity": [ { "ec_number": "2.4.2.8", "activity": "diphosphate + GMP = 5-phospho-alpha-D-ribose 1-diphosphate + guanine.", "evidence": [ { "id": "P27605", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27605" } ] }, { "ec_number": "2.4.2.8", "activity": "", "evidence": [ { "id": "P27605", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27605" } ] } ] }, { "uniprot_ac": "Q04178", "gene_name": "HPT1", "activity": [ { "ec_number": "2.4.2.8", "activity": "diphosphate + GMP = 5-phospho-alpha-D-ribose 1-diphosphate + guanine.", "evidence": [ { "id": "Q04178", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q04178" } ] }, { "ec_number": "2.4.2.8", "activity": "", "evidence": [ { "id": "Q04178", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q04178" } ] } ] }, { "uniprot_ac": "Q54NJ8", "gene_name": "hprT", "activity": [ { "ec_number": "2.4.2.8", "activity": "diphosphate + GMP = 5-phospho-alpha-D-ribose 1-diphosphate + guanine.", "evidence": [ { "id": "Q54NJ8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54NJ8" } ] }, { "ec_number": "2.4.2.8", "activity": "", "evidence": [ { "id": "Q54NJ8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54NJ8" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 48 ], "glycation_sites": [], "phosphorylation_sites": [ 124, 126, 142, 145 ], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", 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