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"count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Identification and characterization of the human homologue of the short PDE4A cAMP-specific phosphodiesterase RD1 (PDE4A1) by analysis of the human HSPDE4A gene locus located at chromosome 19p13.2.", "journal": "The Biochemical journal", "date": "1998-08-01", "authors": "Sullivan M, Rena G, Begg F, Gordon L, Olsen A S, Houslay M D", "reference": { "type": "PubMed", "id": "9677330", "url": "https://pubmed.ncbi.nlm.nih.gov/9677330" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P27815-1", "protein_name": "3',5'-cyclic-AMP phosphodiesterase 4A", "gene_name": "PDE4A", "tax_name": "Human" }, { "uniprot_canonical_ac": "O89084-1", "protein_name": "3',5'-cyclic-AMP phosphodiesterase 4A", "gene_name": "Pde4a", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P27815", "url": 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liver cytosol and expressed human alcohol dehydrogenase isozymes.", "journal": "Chemico-biological interactions", "date": "2002", "authors": "Walsh JS, Reese MJ, Thurmond LM", "reference": { "type": "PubMed", "id": "12399160", "url": "https://pubmed.ncbi.nlm.nih.gov/12399160" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P35558-1", "protein_name": "Phosphoenolpyruvate carboxykinase, cytosolic [GTP]", "gene_name": "PCK1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07327-1", "protein_name": "Alcohol dehydrogenase 1A", "gene_name": "ADH1A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6DHV7-1", "protein_name": "N6-Methyl-AMP deaminase", "gene_name": "MAPDA", "tax_name": "Human" }, { "uniprot_canonical_ac": "P49902-1", "protein_name": "Cytosolic purine 5'-nucleotidase", "gene_name": "NT5C2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35558", "url": 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cellular enzymes determines the stereoselectivity of antiviral activity.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Miller WH, Daluge SM, Garvey EP, Hopkins S, Reardon JE, Boyd FL, Miller RL", "reference": { "type": "PubMed", "id": "1383219", "url": "https://pubmed.ncbi.nlm.nih.gov/1383219" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P35558-1", "protein_name": "Phosphoenolpyruvate carboxykinase, cytosolic [GTP]", "gene_name": "PCK1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07327-1", "protein_name": "Alcohol dehydrogenase 1A", "gene_name": "ADH1A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6DHV7-1", "protein_name": "N6-Methyl-AMP deaminase", "gene_name": "MAPDA", "tax_name": "Human" }, { "uniprot_canonical_ac": "P49902-1", "protein_name": "Cytosolic purine 5'-nucleotidase", "gene_name": "NT5C2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { 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two xanthine inhibitors bound to PEPCK and N-3 modifications of substituted 1,8-dibenzylxanthines.", "journal": "Bioorg. Med. Chem. 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genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia.", "journal": "BMC medical genomics", "date": "2024-07-01", "authors": "Nouri Zahra, Sarmadi Akram, Narrei Sina, Kianersi Hamidreza, Kianersi Farzan, Tabatabaiefar Mohammad Amin", "reference": { "type": "PubMed", "id": "38956522", "url": "https://pubmed.ncbi.nlm.nih.gov/38956522" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P51160-1", "protein_name": "Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'", "gene_name": "PDE6C", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H5P4-3", "protein_name": "PDZ domain-containing protein 7", "gene_name": "PDZD7", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P51160", "url": "https://www.uniprot.org/uniprotkb/P51160" } ], "common_name": "Human", "glygen_name": "Human", 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"journal": "Genomics", "date": "1995", "authors": "Piriev NI, Viczian AS, Ye J, Kerner B, Korenberg JR, Farber DB", "reference": { "type": "PubMed", "id": "7490077", "url": "https://pubmed.ncbi.nlm.nih.gov/7490077" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P51160-1", "protein_name": "Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'", "gene_name": "PDE6C", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P51160", "url": "https://www.uniprot.org/uniprotkb/P51160" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7490077", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", 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], "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": "Isolation and characterization of a cDNA encoding the alpha' subunit of human cone cGMP-phosphodiesterase.", "journal": "Gene", "date": "1995", "authors": "Viczian AS, Piriev NI, Farber DB", "reference": { "type": "PubMed", "id": "8543163", "url": "https://pubmed.ncbi.nlm.nih.gov/8543163" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P51160-1", "protein_name": "Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'", "gene_name": "PDE6C", "tax_name": "Human" } 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Mutat.", "date": "2006", "authors": "Krause C, Rosewich H, Thanos M, Gartner J", "reference": { "type": "PubMed", "id": "17041890", "url": "https://pubmed.ncbi.nlm.nih.gov/17041890" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13608-1", "protein_name": "Peroxisomal ATPase PEX6", "gene_name": "PEX6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P28328-1", "protein_name": "Peroxisome biogenesis factor 2", "gene_name": "PEX2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92968-1", "protein_name": "Peroxisomal membrane protein PEX13", "gene_name": "PEX13", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60683-1", "protein_name": "Peroxisome biogenesis factor 10", "gene_name": "PEX10", "tax_name": "Human" }, { "uniprot_canonical_ac": "O00623-1", "protein_name": "Peroxisome assembly protein 12", "gene_name": "PEX12", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": 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variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.", "journal": "Human mutation", "date": "2009", "authors": "Yik WY, Steinberg SJ, Moser AB, Moser HW, Hacia JG", "reference": { "type": "PubMed", "id": "19105186", "url": "https://pubmed.ncbi.nlm.nih.gov/19105186" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13608-1", "protein_name": "Peroxisomal ATPase PEX6", "gene_name": "PEX6", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43933-1", "protein_name": "Peroxisomal ATPase PEX1", "gene_name": "PEX1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7Z412-1", "protein_name": "Peroxisome assembly protein 26", "gene_name": "PEX26", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60683-1", "protein_name": "Peroxisome biogenesis factor 10", "gene_name": "PEX10", "tax_name": "Human" }, { "uniprot_canonical_ac": "O00623-1", "protein_name": "Peroxisome assembly protein 12", "gene_name": "PEX12", "tax_name": "Human" } ], 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.", "journal": "American journal of human genetics", "date": "2015", "authors": "Ratbi I, Falkenberg KD, Sommen M, Al-Sheqaih N, Guaoua S, Vandeweyer G, Urquhart JE, Chandler KE, Williams SG, Roberts NA, El Alloussi M, Black GC, Ferdinandusse S, Ramdi H, Heimler A, Fryer A, Lynch SA, Cooper N, Ong KR, Smith CE, Inglehearn CF, Mighell AJ, Elcock C, Poulter JA, Tischkowitz M, Davies SJ, Sefiani A, Mironov AA, Newman WG, Waterham HR, Van Camp G", "reference": { "type": "PubMed", "id": "26387595", "url": "https://pubmed.ncbi.nlm.nih.gov/26387595" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13608-1", "protein_name": "Peroxisomal ATPase PEX6", "gene_name": "PEX6", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43933-1", "protein_name": "Peroxisomal ATPase PEX1", "gene_name": "PEX1", "tax_name": 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"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": 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[] } ] }, { "title": "Spectrum of PEX1 and PEX6 variants in Heimler syndrome.", "journal": "European journal of human genetics : EJHG", "date": "2016", "authors": "Smith CE, Poulter JA, Levin AV, Capasso JE, Price S, Ben-Yosef T, Sharony R, Newman WG, Shore RC, Brookes SJ, Mighell AJ, Inglehearn CF", "reference": { "type": "PubMed", "id": "27302843", "url": "https://pubmed.ncbi.nlm.nih.gov/27302843" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13608-1", "protein_name": "Peroxisomal ATPase PEX6", "gene_name": "PEX6", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43933-1", "protein_name": "Peroxisomal ATPase PEX1", "gene_name": "PEX1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99LC9-1", "protein_name": "Peroxisomal ATPase PEX6", "gene_name": "Pex6", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13608", "url": "https://www.uniprot.org/uniprotkb/Q13608" } ], 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}, { "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": "Structural basis for lack of ADP-ribosyltransferase activity in poly(ADP-ribose) polymerase-13/zinc finger antiviral protein.", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Karlberg T, Klepsch M, Thorsell AG, Andersson CD, Linusson A, Schuler H", "reference": { "type": "PubMed", "id": 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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": 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with Clinical Outcome of Acute Myeloid Leukemia in a Korean Population.", "journal": "Genetic testing and molecular biomarkers", "date": "2016", "authors": "Lee MK, Cheong HS, Koh Y, Ahn KS, Yoon SS, Shin HD", "reference": { "type": "PubMed", "id": "27610459", "url": "https://pubmed.ncbi.nlm.nih.gov/27610459" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q460N3-1", "protein_name": "Protein mono-ADP-ribosyltransferase PARP15", "gene_name": "PARP15", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q460N3", "url": "https://www.uniprot.org/uniprotkb/Q460N3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.27610459", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": 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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": 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"Abolishes catalytic activity; abolishes interaction with PARP14.", "evidence": [ { "database": "UniProtKB", "id": "Q53GL7", "url": "https://www.uniprot.org/uniprotkb/Q53GL7" }, { "database": "PubMed", "id": "23473667", "url": "https://pubmed.ncbi.nlm.nih.gov/23473667" }, { "database": "PubMed", "id": "24695737", "url": "https://pubmed.ncbi.nlm.nih.gov/24695737" }, { "database": "PubMed", "id": "18851833", "url": "https://pubmed.ncbi.nlm.nih.gov/18851833" } ], "uniprot_canonical_ac": "Q53GL7-1" }, { "start_pos": 980, "end_pos": 982, "sequence_org": "DCI", "sequence_mut": "ACA", "comment": "Strongly decreased catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q53GL7", "url": "https://www.uniprot.org/uniprotkb/Q53GL7" }, { "database": "PubMed", "id": "18851833", "url": "https://pubmed.ncbi.nlm.nih.gov/18851833" } ], "uniprot_canonical_ac": "Q53GL7-1" }, { "start_pos": 985, "end_pos": 985, "sequence_org": "P", "sequence_mut": "A", "comment": "Strongly decreased catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q53GL7", "url": "https://www.uniprot.org/uniprotkb/Q53GL7" }, { "database": "PubMed", "id": "18851833", "url": "https://pubmed.ncbi.nlm.nih.gov/18851833" } ], "uniprot_canonical_ac": "Q53GL7-1" }, { "start_pos": 987, "end_pos": 987, "sequence_org": "I", "sequence_mut": "E", "comment": "Decreased catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q53GL7", "url": "https://www.uniprot.org/uniprotkb/Q53GL7" }, { "database": "PubMed", "id": "18851833", "url": "https://pubmed.ncbi.nlm.nih.gov/18851833" } ], "uniprot_canonical_ac": "Q53GL7-1" }, { "start_pos": 999, "end_pos": 999, "sequence_org": "T", "sequence_mut": "A", "comment": "Does not affect catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q53GL7", "url": "https://www.uniprot.org/uniprotkb/Q53GL7" }, { "database": "PubMed", "id": "18851833", "url": "https://pubmed.ncbi.nlm.nih.gov/18851833" } ], "uniprot_canonical_ac": "Q53GL7-1" } ], "record_id": "pubmed.18851833", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "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 } ], 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"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": "Glycogen synthase kinase-3 regulates the phosphorylation of severe acute respiratory syndrome coronavirus nucleocapsid protein and viral replication.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Wu CH, Yeh SH, Tsay YG, Shieh YH, Kao CL, Chen YS, Wang SH, Kuo TJ, Chen DS, Chen PJ", "reference": { "type": "PubMed", "id": "19106108", "url": "https://pubmed.ncbi.nlm.nih.gov/19106108" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q460N5-6", "protein_name": "Protein mono-ADP-ribosyltransferase PARP14", "gene_name": "PARP14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UKK3-1", "protein_name": "Protein mono-ADP-ribosyltransferase PARP4", "gene_name": "PARP4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N5Y8-1", "protein_name": "Protein mono-ADP-ribosyltransferase PARP16", "gene_name": "PARP16", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2NL67-1", "protein_name": "Protein mono-ADP-ribosyltransferase PARP6", "gene_name": "PARP6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N3A8-1", "protein_name": "Protein mono-ADP-ribosyltransferase PARP8", "gene_name": "PARP8", "tax_name": "Human" }, { 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Med.", "date": "2025", "authors": "Ito M., Wakabayashi K., Yamada H., Hijikata M., Keicho N., Morimoto K., Ohashi M., Miyabayashi A.", "reference": { "type": "PubMed", "id": "38960684", "url": "https://pubmed.ncbi.nlm.nih.gov/38960684" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q4G0U5-1", "protein_name": "Cilia- and flagella-associated protein 221", "gene_name": "CFAP221", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q4G0U5", "url": "https://www.uniprot.org/uniprotkb/Q4G0U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38960684", "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": "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": "A novel pathogenic variant of CFAP221 is a cause of a mild form of primary ciliary dyskinesia.", "journal": "Biochimica et biophysica acta. Molecular basis of disease", "date": "2025-08", "authors": "Rabiasz Alicja, Bukowy-Biery\u0142\u0142o Zuzanna, Ka\u017amierczak Patrycja, Przysta\u0142owska-Macio\u0142a Hanna, Miko\u015b Marcin, Wojsyk-Banaszak Irena, Zi\u0119tkiewicz Ewa", "reference": { "type": "PubMed", "id": "40250778", "url": "https://pubmed.ncbi.nlm.nih.gov/40250778" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q4G0U5-1", "protein_name": "Cilia- and flagella-associated protein 221", "gene_name": "CFAP221", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q4G0U5", "url": "https://www.uniprot.org/uniprotkb/Q4G0U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.40250778", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": 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expressed in alternative splice variants yielding isoforms that localize to different cell compartments.", "journal": "Experimental cell research", "date": "2004", "authors": "Meyer-Ficca ML, Meyer RG, Coyle DL, Jacobson EL, Jacobson MK", "reference": { "type": "PubMed", "id": "15212953", "url": "https://pubmed.ncbi.nlm.nih.gov/15212953" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q86W56-1", "protein_name": "Poly(ADP-ribose) glycohydrolase", "gene_name": "PARG", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86W56", "url": "https://www.uniprot.org/uniprotkb/Q86W56" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 12, "end_pos": 13, "sequence_org": "KR", "sequence_mut": "AG", "comment": "Abolishes nuclear targeting.", "evidence": [ { "database": "UniProtKB", "id": "Q86W56", "url": 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Biophys. Acta", "date": "2006", "authors": "Haince Jean-Fran\u00e7ois, Ouellet Marie-Eve, McDonald Darin, Hendzel Michael J, Poirier Guy G", "reference": { "type": "PubMed", "id": "16460818", "url": "https://pubmed.ncbi.nlm.nih.gov/16460818" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q86W56-1", "protein_name": "Poly(ADP-ribose) glycohydrolase", "gene_name": "PARG", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86W56", "url": "https://www.uniprot.org/uniprotkb/Q86W56" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16460818", "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": "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": "Two small enzyme isoforms mediate mammalian mitochondrial poly(ADP-ribose) glycohydrolase (PARG) activity.", "journal": "Exp. 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form a stable covalent adduct with the ADP-ribosylated substrate.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y530", "url": "https://www.uniprot.org/uniprotkb/Q9Y530" }, { "database": "PubMed", "id": "21849506", "url": "https://pubmed.ncbi.nlm.nih.gov/21849506" }, { "database": "PubMed", "id": "23481255", "url": "https://pubmed.ncbi.nlm.nih.gov/23481255" } ], "uniprot_canonical_ac": "Q9Y530-1" }, { "start_pos": 84, "end_pos": 84, "sequence_org": "K", "sequence_mut": "A", "comment": "Abolishes enzyme activity and ability to form a stable covalent adduct with the ADP-ribosylated substrate.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y530", "url": "https://www.uniprot.org/uniprotkb/Q9Y530" }, { "database": "PubMed", "id": "23481255", "url": "https://pubmed.ncbi.nlm.nih.gov/23481255" } ], "uniprot_canonical_ac": "Q9Y530-1" } ], "record_id": "pubmed.23481255", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { 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"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": [] } ] } ]