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An initiation codon missense mutation in the housekeeping transcript causes `variant acute intermittent porphyria` with normal expression of the erythroid-specific enzyme.", "journal": "The Journal of clinical investigation", "date": "1994", "authors": "Chen CH, Astrin KH, Lee G, Anderson KE, Desnick RJ", "reference": { "type": "PubMed", "id": "7962538", "url": "https://pubmed.ncbi.nlm.nih.gov/7962538" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P08397-1", "protein_name": "Porphobilinogen deaminase", "gene_name": "HMBS", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P08397", "url": "https://www.uniprot.org/uniprotkb/P08397" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7962538", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], 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hydroxymethylbilane synthase gene in three patients from two unrelated families with acute intermittent porphyria.", "journal": "Human heredity", "date": "1998", "authors": "Ong PM, Lanyon WG, Hift RJ, Halkett J, Cramp CE, Moore MR, Connor JM", "reference": { "type": "PubMed", "id": "9463797", "url": "https://pubmed.ncbi.nlm.nih.gov/9463797" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P08397-1", "protein_name": "Porphobilinogen deaminase", "gene_name": "HMBS", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P08397", "url": "https://www.uniprot.org/uniprotkb/P08397" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9463797", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": 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0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria.", "journal": "Human genetics", "date": "1998", "authors": "Mustajoki S, Pihlaja H, Ahola H, Petersen NE, Mustajoki P, Kauppinen R", "reference": { "type": "PubMed", "id": "9654202", "url": "https://pubmed.ncbi.nlm.nih.gov/9654202" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P08397-1", "protein_name": "Porphobilinogen deaminase", "gene_name": "HMBS", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P08397", "url": "https://www.uniprot.org/uniprotkb/P08397" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9654202", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { 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0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The human G2 checkpoint control protein hRAD9 is a nuclear phosphoprotein that forms complexes with hRAD1 and hHUS1.", "journal": "Mol. Biol. Cell", "date": "1999", "authors": "St Onge R P, Udell C M, Casselman R, Davey S", "reference": { "type": "PubMed", "id": "10359610", "url": "https://pubmed.ncbi.nlm.nih.gov/10359610" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O60921-1", "protein_name": "Checkpoint protein HUS1", "gene_name": "HUS1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60671-1", "protein_name": "Cell cycle checkpoint protein RAD1", "gene_name": "RAD1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99638-1", "protein_name": "Cell cycle checkpoint control protein RAD9A", "gene_name": "RAD9A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60921", "url": "https://www.uniprot.org/uniprotkb/O60921" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10359610", "abstract": "", "glycosylation": [], "mutagenesis": [], 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"count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "PCNA interacts with hHus1/hRad9 in response to DNA damage and replication inhibition.", "journal": "Oncogene", "date": "2000", "authors": "Komatsu K, Wharton W, Hang H, Wu C, Singh S, Lieberman H B, Pledger W J, Wang H G", "reference": { "type": "PubMed", "id": "11077446", "url": "https://pubmed.ncbi.nlm.nih.gov/11077446" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O60921-1", "protein_name": "Checkpoint protein HUS1", "gene_name": "HUS1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60921", "url": "https://www.uniprot.org/uniprotkb/O60921" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11077446", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", 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"glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", 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Natl. Acad. Sci. U.S.A.", "date": "2004", "authors": "Wang Wensheng, Brandt Patrick, Rossi Marie L, Lindsey-Boltz Laura, Podust Vladimir, Fanning Ellen, Sancar Aziz, Bambara Robert A", "reference": { "type": "PubMed", "id": "15556996", "url": "https://pubmed.ncbi.nlm.nih.gov/15556996" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O60921-1", "protein_name": "Checkpoint protein HUS1", "gene_name": "HUS1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60671-1", "protein_name": "Cell cycle checkpoint protein RAD1", "gene_name": "RAD1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99638-1", "protein_name": "Cell cycle checkpoint control protein RAD9A", "gene_name": "RAD9A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60921", "url": "https://www.uniprot.org/uniprotkb/O60921" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15556996", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The human checkpoint sensor and alternative DNA clamp Rad9-Rad1-Hus1 modulates the activity of DNA ligase I, a component of the long-patch base excision repair machinery.", "journal": "Biochem. J.", "date": "2005", "authors": "Smirnova Ekaterina, Toueille Magali, Markkanen Enni, H\u00fcbscher Ulrich", "reference": { "type": "PubMed", "id": "15871698", "url": "https://pubmed.ncbi.nlm.nih.gov/15871698" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O60921-1", "protein_name": "Checkpoint protein HUS1", "gene_name": "HUS1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60671-1", "protein_name": "Cell cycle checkpoint protein RAD1", "gene_name": "RAD1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99638-1", "protein_name": "Cell cycle checkpoint control protein RAD9A", "gene_name": "RAD9A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60921", "url": "https://www.uniprot.org/uniprotkb/O60921" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15871698", "abstract": "", "glycosylation": 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Mol. Biol.", "date": "2005", "authors": "Friedrich-Heineken Erica, Toueille Magali, T\u00e4nnler Barbara, B\u00fcrki Christine, Ferrari Elena, Hottiger Michael O, H\u00fcbscher Ulrich", "reference": { "type": "PubMed", "id": "16216273", "url": "https://pubmed.ncbi.nlm.nih.gov/16216273" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O60921-1", "protein_name": "Checkpoint protein HUS1", "gene_name": "HUS1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60671-1", "protein_name": "Cell cycle checkpoint protein RAD1", "gene_name": "RAD1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99638-1", "protein_name": "Cell cycle checkpoint control protein RAD9A", "gene_name": "RAD9A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60921", "url": "https://www.uniprot.org/uniprotkb/O60921" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens 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fission yeast checkpoint protein, interacts with Rad1p and is phosphorylated in response to DNA damage.", "journal": "EMBO J.", "date": "1998", "authors": "Kostrub CF, Knudsen K, Subramani S, Enoch T", "reference": { "type": "PubMed", "id": "9524127", "url": "https://pubmed.ncbi.nlm.nih.gov/9524127" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O60921-1", "protein_name": "Checkpoint protein HUS1", "gene_name": "HUS1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60921", "url": "https://www.uniprot.org/uniprotkb/O60921" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9524127", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], 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