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in two similar patients with severe Zellweger syndrome: an argument on the genotype-phenotype correlation.", "journal": "Journal of pediatric endocrinology & metabolism : JPEM", "date": "2020", "authors": "Havali C, Dorum S, Akbas Y, Gorukmez O, Hirfanoglu T", "reference": { "type": "PubMed", "id": "32069232", "url": "https://pubmed.ncbi.nlm.nih.gov/32069232" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O43933-1", "protein_name": "Peroxisomal ATPase PEX1", "gene_name": "PEX1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60683-1", "protein_name": "Peroxisome biogenesis factor 10", "gene_name": "PEX10", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43933", "url": "https://www.uniprot.org/uniprotkb/O43933" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.32069232", "abstract": "", 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"date": "2000", "authors": "Asazuma N, Wilde JI, Berlanga O, Leduc M, Leo A, Schweighoffer E, Tybulewicz V, Bon C, Liu SK, McGlade CJ, Schraven B, Watson SP", "reference": { "type": "PubMed", "id": "10942756", "url": "https://pubmed.ncbi.nlm.nih.gov/10942756" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75563-1", "protein_name": "Src kinase-associated phosphoprotein 2", "gene_name": "SKAP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43561-1", "protein_name": "Linker for activation of T-cells family member 1", "gene_name": "LAT", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15117-1", "protein_name": "FYN-binding protein 1", "gene_name": "FYB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P62993-1", "protein_name": "Growth factor receptor-bound protein 2", "gene_name": "GRB2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75563", "url": 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retinoic acid (RA) and promyelocytic leukemia (PML)-RA receptor alpha in acute promyelocytic leukemia cells.", "journal": "J. 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Chem.", "date": "2001", "authors": "Moog-Lutz C, Peterson EJ, Lutz PG, Eliason S, Cave-Riant F, Singer A, Di Gioia Y, Dmowski S, Kamens J, Cayre YE, Koretzky G", "reference": { "type": "PubMed", "id": "11301322", "url": "https://pubmed.ncbi.nlm.nih.gov/11301322" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75563-1", "protein_name": "Src kinase-associated phosphoprotein 2", "gene_name": "SKAP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96QH2-1", "protein_name": "PML-RARA-regulated adapter molecule 1", "gene_name": "PRAM1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13094-1", "protein_name": "Lymphocyte cytosolic protein 2", "gene_name": "LCP2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75563", "url": "https://www.uniprot.org/uniprotkb/O75563" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], 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"date": "2010", "authors": "Yusufzai T, Kadonaga JT", "reference": { "type": "PubMed", "id": "21078962", "url": "https://pubmed.ncbi.nlm.nih.gov/21078962" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q5FWF4-1", "protein_name": "DNA annealing helicase and endonuclease ZRANB3", "gene_name": "ZRANB3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FWF4", "url": "https://www.uniprot.org/uniprotkb/Q5FWF4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.21078962", "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", 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Abolishes interaction with PCNA; when associated with A-525.", "evidence": [ { "database": "UniProtKB", "id": "Q5FWF4", "url": "https://www.uniprot.org/uniprotkb/Q5FWF4" }, { "database": "PubMed", "id": "22704558", "url": "https://pubmed.ncbi.nlm.nih.gov/22704558" }, { "database": "PubMed", "id": "22705370", "url": "https://pubmed.ncbi.nlm.nih.gov/22705370" }, { "database": "PubMed", "id": "22759634", "url": "https://pubmed.ncbi.nlm.nih.gov/22759634" } ], "uniprot_canonical_ac": "Q5FWF4-1" }, { "start_pos": 525, "end_pos": 525, "sequence_org": "F", "sequence_mut": "A", "comment": "Abolishes interaction with PCNA; when associated with A-519.", "evidence": [ { "database": "UniProtKB", "id": "Q5FWF4", "url": "https://www.uniprot.org/uniprotkb/Q5FWF4" }, { "database": "PubMed", "id": "22705370", "url": "https://pubmed.ncbi.nlm.nih.gov/22705370" } ], "uniprot_canonical_ac": "Q5FWF4-1" } ], "record_id": "pubmed.22705370", "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 } ], "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": "ZRANB3 is a structure-specific ATP-dependent endonuclease involved in replication stress response.", "journal": "Genes & development", "date": "2012", "authors": "Weston R, Peeters H, Ahel D", "reference": { "type": "PubMed", "id": "22759634", "url": "https://pubmed.ncbi.nlm.nih.gov/22759634" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q5FWF4-1", "protein_name": "DNA annealing helicase and endonuclease ZRANB3", "gene_name": "ZRANB3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P12004-1", "protein_name": "DNA sliding clamp PCNA", "gene_name": "PCNA", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FWF4", "url": "https://www.uniprot.org/uniprotkb/Q5FWF4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 1021, "end_pos": 1021, "sequence_org": "H", "sequence_mut": "A", "comment": "No effect endonuclease. No effect on ATPase acitivity. Abolishes endonuclease activity; when associated with R-65. No effect on ATPase acitivity.", "evidence": [ { "database": "UniProtKB", "id": "Q5FWF4", "url": "https://www.uniprot.org/uniprotkb/Q5FWF4" }, { "database": "PubMed", "id": "22759634", "url": "https://pubmed.ncbi.nlm.nih.gov/22759634" }, { "database": "PubMed", "id": "28621305", "url": "https://pubmed.ncbi.nlm.nih.gov/28621305" } ], "uniprot_canonical_ac": "Q5FWF4-1" }, { "start_pos": 519, "end_pos": 519, "sequence_org": "Q", "sequence_mut": "A", "comment": "Abolishes interaction with PCNA; when associated with A-522; 525-A-A-526 and A-1075. 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Abolishes endonuclease activity. Abolishes endonuclease activity; when associated with A-1021.", "evidence": [ { "database": "UniProtKB", "id": "Q5FWF4", "url": "https://www.uniprot.org/uniprotkb/Q5FWF4" }, { "database": "PubMed", "id": "22759634", "url": "https://pubmed.ncbi.nlm.nih.gov/22759634" }, { "database": "PubMed", "id": "28621305", "url": "https://pubmed.ncbi.nlm.nih.gov/28621305" } ], "uniprot_canonical_ac": "Q5FWF4-1" } ], "record_id": "pubmed.22759634", "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 } ], "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": 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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": "Structure and specificity of the bacterial cysteine methyltransferase effector NleE suggests a novel substrate in human DNA repair pathway.", "journal": "PLoS pathogens", "date": "2014", "authors": "Yao Q, Zhang L, Wan X, Chen J, Hu L, Ding X, Li L, Karar J, Peng H, Chen S, Huang N, Rauscher FJ 3rd, Shao F", "reference": { "type": "PubMed", "id": "25412445", "url": "https://pubmed.ncbi.nlm.nih.gov/25412445" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q5FWF4-1", "protein_name": "DNA annealing helicase and endonuclease ZRANB3", "gene_name": "ZRANB3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NYJ8-1", "protein_name": "TGF-beta-activated kinase 1 and MAP3K7-binding protein 2", "gene_name": "TAB2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FWF4", "url": "https://www.uniprot.org/uniprotkb/Q5FWF4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.25412445", "abstract": "", "glycosylation": [], "mutagenesis": [], "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": 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"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": "Identification of a Substrate Recognition Domain in the Replication Stress Response Protein Zinc Finger Ran-binding Domain-containing Protein 3 (ZRANB3).", "journal": "The Journal of biological chemistry", "date": "2016", "authors": "Badu-Nkansah A, Mason AC, Eichman BF, Cortez D", "reference": { "type": "PubMed", "id": "26884333", "url": "https://pubmed.ncbi.nlm.nih.gov/26884333" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q5FWF4-1", "protein_name": "DNA annealing helicase and endonuclease ZRANB3", "gene_name": "ZRANB3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FWF4", "url": "https://www.uniprot.org/uniprotkb/Q5FWF4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 163, "end_pos": 163, "sequence_org": "K", "sequence_mut": "D", "comment": "Loss of DNA-dependent ATPase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5FWF4", "url": "https://www.uniprot.org/uniprotkb/Q5FWF4" }, { "database": "PubMed", "id": "26884333", "url": "https://pubmed.ncbi.nlm.nih.gov/26884333" } ], "uniprot_canonical_ac": "Q5FWF4-1" }, { "start_pos": 762, "end_pos": 764, "sequence_org": "LDI", "sequence_mut": "AAA", "comment": "Loss of DNA-binding, DNA-dependent ATPase and nuclease activities.", "evidence": [ { "database": "UniProtKB", "id": "Q5FWF4", "url": "https://www.uniprot.org/uniprotkb/Q5FWF4" }, { "database": "PubMed", "id": "26884333", "url": "https://pubmed.ncbi.nlm.nih.gov/26884333" } ], "uniprot_canonical_ac": "Q5FWF4-1" }, { "start_pos": 792, "end_pos": 794, "sequence_org": "WSS", "sequence_mut": "AAA", "comment": "Loss of DNA-dependent ATPase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5FWF4", "url": "https://www.uniprot.org/uniprotkb/Q5FWF4" }, { "database": "PubMed", "id": "26884333", "url": "https://pubmed.ncbi.nlm.nih.gov/26884333" } ], "uniprot_canonical_ac": "Q5FWF4-1" } ], "record_id": "pubmed.26884333", "abstract": "", "glycosylation": [], "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": "Identification of a Distinct Substrate-binding Domain in the Bacterial Cysteine Methyltransferase Effectors NleE and OspZ.", "journal": "The Journal of biological chemistry", "date": "2016", "authors": "Zhang Y, Muhlen S, Oates CV, Pearson JS, Hartland EL", "reference": { "type": "PubMed", "id": "27445336", "url": "https://pubmed.ncbi.nlm.nih.gov/27445336" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q5FWF4-1", "protein_name": "DNA annealing helicase and endonuclease ZRANB3", "gene_name": "ZRANB3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N5C8-1", "protein_name": "TGF-beta-activated kinase 1 and MAP3K7-binding protein 3", "gene_name": "TAB3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NYJ8-1", "protein_name": "TGF-beta-activated kinase 1 and MAP3K7-binding protein 2", "gene_name": "TAB2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FWF4", "url": "https://www.uniprot.org/uniprotkb/Q5FWF4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } 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Strongly reduces endonuclease activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5FWF4", "url": "https://www.uniprot.org/uniprotkb/Q5FWF4" }, { "database": "PubMed", "id": "28621305", "url": "https://pubmed.ncbi.nlm.nih.gov/28621305" } ], "uniprot_canonical_ac": "Q5FWF4-1" }, { "start_pos": 1046, "end_pos": 1048, "sequence_org": "KER", "sequence_mut": "AEA", "comment": "No effect on ATPase activity. Strongly reduces endonuclease activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5FWF4", "url": "https://www.uniprot.org/uniprotkb/Q5FWF4" }, { "database": "PubMed", "id": "28621305", "url": "https://pubmed.ncbi.nlm.nih.gov/28621305" } ], "uniprot_canonical_ac": "Q5FWF4-1" }, { "start_pos": 169, "end_pos": 169, "sequence_org": "R", "sequence_mut": "H", "comment": "Abolishes ATPase acitivity. 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Reduces endonuclease activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5FWF4", "url": "https://www.uniprot.org/uniprotkb/Q5FWF4" }, { "database": "PubMed", "id": "28621305", "url": "https://pubmed.ncbi.nlm.nih.gov/28621305" } ], "uniprot_canonical_ac": "Q5FWF4-1" }, { "start_pos": 984, "end_pos": 984, "sequence_org": "K", "sequence_mut": "A", "comment": "No effect on ATPase activity. No effect on endonuclease activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5FWF4", "url": "https://www.uniprot.org/uniprotkb/Q5FWF4" }, { "database": "PubMed", "id": "28621305", "url": "https://pubmed.ncbi.nlm.nih.gov/28621305" } ], "uniprot_canonical_ac": "Q5FWF4-1" }, { "start_pos": 987, "end_pos": 987, "sequence_org": "R", "sequence_mut": "A", "comment": "Reduces ATPase activity. Reduces endonuclease activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5FWF4", "url": "https://www.uniprot.org/uniprotkb/Q5FWF4" }, { "database": "PubMed", "id": "28621305", "url": "https://pubmed.ncbi.nlm.nih.gov/28621305" } ], "uniprot_canonical_ac": "Q5FWF4-1" }, { "start_pos": 988, "end_pos": 988, "sequence_org": "K", "sequence_mut": "A", "comment": "No effect on ATPase activity. No effect on endonuclease activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5FWF4", "url": "https://www.uniprot.org/uniprotkb/Q5FWF4" }, { "database": "PubMed", "id": "28621305", "url": "https://pubmed.ncbi.nlm.nih.gov/28621305" } ], "uniprot_canonical_ac": "Q5FWF4-1" }, { "start_pos": 998, "end_pos": 998, "sequence_org": "K", "sequence_mut": "A", "comment": "No effect on ATPase activity. No effect on endonuclease activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5FWF4", "url": "https://www.uniprot.org/uniprotkb/Q5FWF4" }, { "database": "PubMed", "id": "28621305", "url": "https://pubmed.ncbi.nlm.nih.gov/28621305" } ], "uniprot_canonical_ac": "Q5FWF4-1" } ], "record_id": "pubmed.28621305", "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": 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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": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Nuclear RNR-alpha antagonizes cell proliferation by directly inhibiting ZRANB3.", "journal": "Nature chemical biology", "date": "2018", "authors": "Fu Y, Long MJC, Wisitpitthaya S, Inayat H, Pierpont TM, Elsaid IM, Bloom JC, Ortega J, Weiss RS, Aye Y", "reference": { "type": "PubMed", "id": "30150681", "url": "https://pubmed.ncbi.nlm.nih.gov/30150681" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q5FWF4-1", "protein_name": "DNA annealing helicase and endonuclease ZRANB3", "gene_name": "ZRANB3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FWF4", "url": "https://www.uniprot.org/uniprotkb/Q5FWF4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.30150681", "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 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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": "ZRANB3 is an African-specific type 2 diabetes locus associated with beta-cell mass and insulin response.", "journal": "Nature communications", "date": "2019", "authors": "Adeyemo AA, Zaghloul NA, Chen G, Doumatey AP, Leitch CC, Hostelley TL, Nesmith JE, Zhou J, Bentley AR, Shriner D, Fasanmade O, Okafor G, Eghan B Jr, Agyenim-Boateng K, Chandrasekharappa S, Adeleye J, Balogun W, Owusu S, Amoah A, Acheampong J, Johnson T, Oli J, Adebamowo C, Collins F, Dunston G, Rotimi CN", "reference": { "type": "PubMed", "id": "31324766", "url": "https://pubmed.ncbi.nlm.nih.gov/31324766" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q5FWF4-1", "protein_name": "DNA annealing helicase and endonuclease ZRANB3", "gene_name": "ZRANB3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FWF4", "url": "https://www.uniprot.org/uniprotkb/Q5FWF4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.31324766", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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"Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.", "journal": "Nat. Genet.", "date": "2018", "authors": "Ishiura H, Doi K, Mitsui J, Yoshimura J, Matsukawa MK, Fujiyama A, Toyoshima Y, Kakita A, Takahashi H, Suzuki Y, Sugano S, Qu W, Ichikawa K, Yurino H, Higasa K, Shibata S, Mitsue A, Tanaka M, Ichikawa Y, Takahashi Y, Date H, Matsukawa T, Kanda J, Nakamoto FK, Higashihara M, Abe K, Koike R, Sasagawa M, Kuroha Y, Hasegawa N, Kanesawa N, Kondo T, Hitomi T, Tada M, Takano H, Saito Y, Sanpei K, Onodera O, Nishizawa M, Nakamura M, Yasuda T, Sakiyama Y, Otsuka M, Ueki A, Kaida KI, Shimizu J, Hanajima R, Hayashi T, Terao Y, Inomata-Terada S, Hamada M, Shirota Y, Kubota A, Ugawa Y, Koh K, Takiyama Y, Ohsawa-Yoshida N, Ishiura S, Yamasaki R, Tamaoka A, Akiyama H, Otsuki T, Sano A, Ikeda A, Goto J, Morishita S, Tsuji S", "reference": { "type": "PubMed", "id": "29507423", "url": "https://pubmed.ncbi.nlm.nih.gov/29507423" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8N8I0-1", "protein_name": "Sterile alpha motif 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"authors": "Terasaki A, Nakamura M, Urata Y, Hiwatashi H, Yokoyama I, Yasuda T, Onuma T, Wada K, Kaneko S, Kan R, Niwa SI, Hashimoto O, Komure O, Goto YI, Yamagishi Y, Nakano M, Furusawa Y, Sano A", "reference": { "type": "PubMed", "id": "33040085", "url": "https://pubmed.ncbi.nlm.nih.gov/33040085" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8N8I0-1", "protein_name": "Sterile alpha motif domain-containing protein 12", "gene_name": "SAMD12", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N8I0", "url": "https://www.uniprot.org/uniprotkb/Q8N8I0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.33040085", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": 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Virol.", "date": "1992", "authors": "Johann SV, Gibbons JJ, O'Hara B", "reference": { "type": "PubMed", "id": "1531369", "url": "https://pubmed.ncbi.nlm.nih.gov/1531369" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8WUM9-1", "protein_name": "Sodium-dependent phosphate transporter 1", "gene_name": "SLC20A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q61609-1", "protein_name": "Sodium-dependent phosphate transporter 1", "gene_name": "Slc20a1", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WUM9", "url": "https://www.uniprot.org/uniprotkb/Q8WUM9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1531369", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": 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necessary for infection by gibbon ape leukemia virus and which is highly polymorphic between species.", "journal": "Journal of virology", "date": "1993", "authors": "Johann SV, van Zeijl M, Cekleniak J, O'Hara B", "reference": { "type": "PubMed", "id": "8411375", "url": "https://pubmed.ncbi.nlm.nih.gov/8411375" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8WUM9-1", "protein_name": "Sodium-dependent phosphate transporter 1", "gene_name": "SLC20A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q61609-1", "protein_name": "Sodium-dependent phosphate transporter 1", "gene_name": "Slc20a1", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WUM9", "url": "https://www.uniprot.org/uniprotkb/Q8WUM9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 550, "end_pos": 550, "sequence_org": "D", 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "Spotlight on HIV-1 Nef: SERINC3 and SERINC5 Identified as Restriction Factors Antagonized by the Pathogenesis Factor.", "journal": "Viruses", "date": "2015", "authors": "Fackler OT", "reference": { "type": "PubMed", "id": "26703715", "url": "https://pubmed.ncbi.nlm.nih.gov/26703715" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NRX5-1", "protein_name": "Serine incorporator 1", "gene_name": "SERINC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GZT4-1", "protein_name": "Serine racemase", "gene_name": "SRR", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86VE9-1", "protein_name": "Serine incorporator 5", "gene_name": "SERINC5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13530-1", "protein_name": "Serine incorporator 3", "gene_name": "SERINC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P78330-1", "protein_name": "Phosphoserine phosphatase", "gene_name": "PSPH", "tax_name": 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"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": "Human L-3-phosphoserine phosphatase: sequence, expression and evidence for a phosphoenzyme intermediate.", "journal": "FEBS letters", "date": "1997", "authors": "Collet JF, Gerin I, Rider MH, Veiga-da-Cunha M, Van Schaftingen E", "reference": { "type": "PubMed", "id": "9188776", "url": "https://pubmed.ncbi.nlm.nih.gov/9188776" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NRX5-1", "protein_name": "Serine incorporator 1", "gene_name": "SERINC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GZT4-1", "protein_name": "Serine racemase", "gene_name": "SRR", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86VE9-1", "protein_name": "Serine incorporator 5", "gene_name": "SERINC5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13530-1", "protein_name": "Serine incorporator 3", "gene_name": "SERINC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P78330-1", "protein_name": "Phosphoserine phosphatase", "gene_name": "PSPH", "tax_name": "Human" }, { "uniprot_canonical_ac": "P20132-1", "protein_name": "L-serine dehydratase/L-threonine deaminase", "gene_name": "SDS", "tax_name": 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"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": "Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.", "journal": "American journal of human genetics", "date": "2011", "authors": "Gal A, Rau I, El Matri L, Kreienkamp HJ, Fehr S, Baklouti K, Chouchane I, Li Y, Rehbein M, Fuchs J, Fledelius HC, Vilhelmsen K, Schorderet DF, Munier FL, Ostergaard E, Thompson DA, Rosenberg T", "reference": { "type": "PubMed", "id": "21397065", "url": "https://pubmed.ncbi.nlm.nih.gov/21397065" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P0CW18-1", "protein_name": "Serine protease 56", "gene_name": "PRSS56", "tax_name": "Human" }, { "uniprot_canonical_ac": "F2YMG0-1", "protein_name": "Serine protease 56", "gene_name": "Prss56", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P0CW18", "url": "https://www.uniprot.org/uniprotkb/P0CW18" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.21397065", "abstract": "", "glycosylation": [], "mutagenesis": [], "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 } ], "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": 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"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": "Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice.", "journal": "Nature genetics", "date": "2011", "authors": "Nair KS, Hmani-Aifa M, Ali Z, Kearney AL, Ben Salem S, Macalinao DG, Cosma IM, Bouassida W, Hakim B, Benzina Z, Soto I, Soderkvist P, Howell GR, Smith RS, Ayadi H, John SW", "reference": { "type": "PubMed", "id": "21532570", "url": 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