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Biol.", "date": "1992", "authors": "von Lindern M, Fornerod M, van Baal S, Jaegle M, de Wit T, Buijs A, Grosveld G", "reference": { "type": "PubMed", "id": "1549122", "url": "https://pubmed.ncbi.nlm.nih.gov/1549122" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P35658-1", "protein_name": "Nuclear pore complex protein Nup214", "gene_name": "NUP214", "tax_name": "Human" }, { "uniprot_canonical_ac": "P35659-1", "protein_name": "Protein DEK", "gene_name": "DEK", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35658", "url": "https://www.uniprot.org/uniprotkb/P35658" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1549122", "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": 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": "Can, a putative oncogene associated with myeloid leukemogenesis, may be activated by fusion of its 3' half to different genes: characterization of the set gene.", "journal": "Mol. 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Biol.", "date": "1992", "authors": "von Lindern M, van Baal S, Wiegant J, Raap A, Hagemeijer A, Grosveld G", "reference": { "type": "PubMed", "id": "1630450", "url": "https://pubmed.ncbi.nlm.nih.gov/1630450" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P35658-1", "protein_name": "Nuclear pore complex protein Nup214", "gene_name": "NUP214", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q01105-1", "protein_name": "Protein SET", "gene_name": "SET", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35658", "url": "https://www.uniprot.org/uniprotkb/P35658" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1630450", "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": 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": "Crystal structure of the N-terminal domain of the human protooncogene Nup214/CAN.", "journal": "Proc. 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Filosa A, Juhlen R, Komatsuzaki S, Hezwani M, Dickmanns A, Martinelli V, Vermeersch M, Supply L, Martins N, Pirenne L, Ravenscroft G, Lombard M, Port S, Spillner C, Janssens S, Roets E, Van Dorpe J, Lammens M, Kehlenbach RH, Ficner R, Laing NG, Hoffmann K, Vanhollebeke B, Fahrenkrog B", "reference": { "type": "PubMed", "id": "30543681", "url": "https://pubmed.ncbi.nlm.nih.gov/30543681" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P35658-1", "protein_name": "Nuclear pore complex protein Nup214", "gene_name": "NUP214", "tax_name": "Human" }, { "uniprot_canonical_ac": "A2CEI4-1", "protein_name": "Nucleoporin 88", "gene_name": "nup88", "tax_name": "Zebrafish" }, { "uniprot_canonical_ac": "Q99567-1", "protein_name": "Nuclear pore complex protein Nup88", "gene_name": "NUP88", "tax_name": "Human" }, { "uniprot_canonical_ac": "P52948-1", "protein_name": "Nuclear pore complex protein Nup98-Nup96", "gene_name": "NUP98", "tax_name": "Human" }, { 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "The large subunit of the mammalian mitochondrial ribosome. Analysis of the complement of ribosomal proteins present.", "journal": "J. Biol. Chem.", "date": "2001", "authors": "Koc E C, Burkhart W, Blackburn K, Moyer M B, Schlatzer D M, Moseley A, Spremulli L L", "reference": { "type": "PubMed", "id": "11551941", "url": "https://pubmed.ncbi.nlm.nih.gov/11551941" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13405-1", "protein_name": "Large ribosomal subunit protein mL49", "gene_name": "MRPL49", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BRJ2-1", "protein_name": "Large ribosomal subunit protein mL45", "gene_name": "MRPL45", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H2W6-1", "protein_name": "Large ribosomal subunit protein mL46", "gene_name": "MRPL46", "tax_name": "Human" }, { "uniprot_canonical_ac": "P0C2B8-1", "protein_name": "Large ribosomal subunit protein mL55", "gene_name": "MRPL55", "tax_name": "Bovine" }, { "uniprot_canonical_ac": "Q2HJJ1-1", "protein_name": "Large ribosomal subunit protein bL28m", "gene_name": "MRPL28", "tax_name": "Bovine" }, { "uniprot_canonical_ac": "P0C2B6-1", "protein_name": "Large ribosomal subunit protein mL51", "gene_name": "MRPL51", "tax_name": "Bovine" }, { "uniprot_canonical_ac": "Q2YDI5-1", "protein_name": "Large ribosomal subunit protein mL48", "gene_name": "MRPL48", "tax_name": "Bovine" }, { "uniprot_canonical_ac": "Q86TS9-1", "protein_name": "Large ribosomal subunit protein mL52", "gene_name": "MRPL52", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7Z7F7-1", "protein_name": "Large ribosomal subunit protein mL55", "gene_name": "MRPL55", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IXM3-1", "protein_name": "Large ribosomal subunit protein mL41", "gene_name": "MRPL41", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HD33-1", "protein_name": "Large ribosomal subunit protein uL29m", "gene_name": "MRPL47", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NZE8-1", "protein_name": "Large ribosomal subunit protein bL35m", "gene_name": "MRPL35", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y6G3-1", "protein_name": "Large ribosomal subunit protein mL42", "gene_name": "MRPL42", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q4U2R6-1", "protein_name": "Large ribosomal subunit protein mL51", "gene_name": "MRPL51", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NX20-1", "protein_name": "Large ribosomal subunit protein uL16m", "gene_name": "MRPL16", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H0U6-1", "protein_name": "Large ribosomal subunit protein uL18m", "gene_name": "MRPL18", "tax_name": "Human" }, { "uniprot_canonical_ac": "P0C2B7-1", "protein_name": "Large ribosomal subunit protein mL52", "gene_name": "MRPL52", "tax_name": "Bovine" }, { "uniprot_canonical_ac": "P83095-1", "protein_name": "Serine beta-lactamase-like protein LACTB, mitochondrial", "gene_name": "LACTB", "tax_name": "Bovine" }, { "uniprot_canonical_ac": "Q9H9J2-1", "protein_name": "Large ribosomal subunit protein mL44", "gene_name": "MRPL44", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7Z7H8-1", "protein_name": "Large ribosomal subunit protein uL10m", "gene_name": "MRPL10", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2TA12-1", "protein_name": "Large ribosomal subunit protein uL2m", "gene_name": "MRPL2", "tax_name": "Bovine" }, { "uniprot_canonical_ac": "Q32PI6-1", "protein_name": "Large ribosomal subunit protein uL4m", "gene_name": "MRPL4", "tax_name": "Bovine" }, { "uniprot_canonical_ac": "Q3SZX5-1", "protein_name": "Large ribosomal subunit protein uL22m", "gene_name": "MRPL22", "tax_name": "Bovine" }, { "uniprot_canonical_ac": "Q3ZBF3-1", "protein_name": "Large ribosomal subunit protein mL38", "gene_name": "MRPL38", "tax_name": "Bovine" }, { "uniprot_canonical_ac": "Q58DV5-1", "protein_name": "Large ribosomal subunit protein uL30m", "gene_name": "MRPL30", "tax_name": "Bovine" }, { "uniprot_canonical_ac": "Q13084-1", "protein_name": "Large ribosomal subunit protein bL28m", "gene_name": "MRPL28", "tax_name": "Human" }, { 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clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.", "journal": "American journal of human genetics", "date": "2025-04-03", "authors": "Thomas Huw B, Demain Leigh A M, Cabrera-Orefice Alfredo, Schrauwen Isabelle, Shamseldin Hanan E, Rea Alessandro, Bharadwaj Thashi, Smith Thomas B, Ol\u00e1hov\u00e1 Monika, Thompson Kyle, He Langping, Kaur Namanpreet, Shukla Anju, Abukhalid Musaad, Ansar Muhammad, Rehman Sakina, Riazuddin Saima, Abdulwahab Firdous, Smith Janine M, Stark Zornitza, Mancilar Hanifenur, Tumer Sait, Esen Fatma N, Uctepe Eyyup, Topcu Vehap, Yesilyurt Ahmet, Afzal Erum, Salari Mehri, Carroll Christopher, Zifarelli Giovanni, Bauer Peter, Kor Deniz, Bulut Fatma D, Houlden Henry, Maroofian Reza, Carrera Samantha, Yue Wyatt W, Munro Kevin J, Alkuraya Fowzan S, Jamieson Peter, Ahmed Zubair M, Leal Suzanne M, Taylor Robert W, Wittig Ilka, O'Keefe Raymond T, Newman William G", "reference": { "type": "PubMed", "id": "40043708", 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procollagen C-proteinase enhancer protein gene from the glaucoma candidate region on 3q21-q24.", "journal": "Genomics", "date": "2000", "authors": "Xu H, Acott T S, Wirtz M K", "reference": { "type": "PubMed", "id": "10873381", "url": "https://pubmed.ncbi.nlm.nih.gov/10873381" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UKZ9-1", "protein_name": "Procollagen C-endopeptidase enhancer 2", "gene_name": "PCOLCE2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UKZ9", "url": "https://www.uniprot.org/uniprotkb/Q9UKZ9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10873381", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], 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Or how I learned to stop worrying and love reverse cholesterol transport?", "journal": "Current opinion in lipidology", "date": "2015", "authors": "Sorci-Thomas MG, Pollard RD, Thomas MJ", "reference": { "type": "PubMed", "id": "26218419", "url": "https://pubmed.ncbi.nlm.nih.gov/26218419" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UKZ9-1", "protein_name": "Procollagen C-endopeptidase enhancer 2", "gene_name": "PCOLCE2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UKZ9", "url": "https://www.uniprot.org/uniprotkb/Q9UKZ9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.26218419", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], 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"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": 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"name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N6D2", "url": "https://www.uniprot.org/uniprotkb/Q8N6D2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.32486221", "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 }, { 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[] } ] }, { "title": "A processed pseudogene in an intron of the HLA-DP beta 1 chain gene is a member of the ribosomal protein L32 gene family.", "journal": "Nucleic Acids Res.", "date": "1985", "authors": "Young JA, Trowsdale J", "reference": { "type": "PubMed", "id": "3866218", "url": "https://pubmed.ncbi.nlm.nih.gov/3866218" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P62910-1", "protein_name": "Large ribosomal subunit protein eL32", "gene_name": "RPL32", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P62910", "url": "https://www.uniprot.org/uniprotkb/P62910" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.3866218", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { 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Puri RD, Hernan R, Chung WK, Bertoli-Avella AM, Al-Sannaa N, Zaki MS, Willert K, Reversade B, Gleeson JG", "reference": { "type": "PubMed", "id": "34587386", "url": "https://pubmed.ncbi.nlm.nih.gov/34587386" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q5T9L3-1", "protein_name": "Protein wntless homolog", "gene_name": "WLS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6DID7-1", "protein_name": "Protein wntless homolog", "gene_name": "Wls", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5T9L3", "url": "https://www.uniprot.org/uniprotkb/Q5T9L3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 392, "end_pos": 392, "sequence_org": "Y", "sequence_mut": "C", "comment": "Knockin mice have several structural anomalies recapitulating the major defects observed in patients with Zaki 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embryonic poly(A) binding protein (EPAB).", "journal": "Mol. 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Reprod.", "date": "2008", "authors": "Guzeloglu-Kayisli O, Pauli S, Demir H, Lalioti MD, Sakkas D, Seli E", "reference": { "type": "PubMed", "id": "18716053", "url": "https://pubmed.ncbi.nlm.nih.gov/18716053" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q4VXU2-1", "protein_name": "Polyadenylate-binding protein 1-like", "gene_name": "PABPC1L", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q4VXU2", "url": "https://www.uniprot.org/uniprotkb/Q4VXU2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.18716053", "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": "Bi-allelic pathogenic variants in PABPC1L cause oocyte maturation arrest and female infertility.", "journal": "EMBO molecular medicine", "date": "2023-06-07", "authors": "Wang Weijie, Guo Jing, Shi Juanzi, Li Qun, Chen Biaobang, Pan Zhiqi, Qu Ronggui, Fu Jing, Shi Rong, Xue Xia, Mu Jian, Zhang Zhihua, Wu Tianyu, Wang Wenjing, Zhao Lin, Li Qiaoli, He Lin, Sun Xiaoxi, Sang Qing, Lin Ge, Wang Lei", "reference": { "type": "PubMed", "id": "37052235", "url": "https://pubmed.ncbi.nlm.nih.gov/37052235" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q4VXU2-1", "protein_name": "Polyadenylate-binding protein 1-like", "gene_name": "PABPC1L", "tax_name": "Human" }, { "uniprot_canonical_ac": "A2A5N3-1", "protein_name": "Polyadenylate-binding protein 1-like", "gene_name": "Pabpc1l", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q4VXU2", "url": "https://www.uniprot.org/uniprotkb/Q4VXU2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 137, "end_pos": 137, "sequence_org": "S", "sequence_mut": "F", "comment": "Knockin female mice exhibit early embryonic arrest and infertility. 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"2024-02", "authors": "Okutman O, G\u00fcrb\u00fcz A S, B\u00fcy\u00fck U, Real E, Leconte R, Chennen K, Mayer C, Muller J, Le May N, Viville S", "reference": { "type": "PubMed", "id": "38177974", "url": "https://pubmed.ncbi.nlm.nih.gov/38177974" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q4VXU2-1", "protein_name": "Polyadenylate-binding protein 1-like", "gene_name": "PABPC1L", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q4VXU2", "url": "https://www.uniprot.org/uniprotkb/Q4VXU2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38177974", "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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"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", 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"CHKA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TCT1-1", "protein_name": "Phosphoethanolamine/phosphocholine phosphatase", "gene_name": "PHOSPHO1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TBG4-1", "protein_name": "Ethanolamine-phosphate phospho-lyase", "gene_name": "ETNPPL", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y259-1", "protein_name": "Choline/ethanolamine kinase", "gene_name": "CHKB", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14693-1", "protein_name": "Phosphatidate phosphatase LPIN1", "gene_name": "LPIN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BQK8-1", "protein_name": "Phosphatidate phosphatase LPIN3", "gene_name": "LPIN3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92539-1", "protein_name": "Phosphatidate phosphatase LPIN2", "gene_name": "LPIN2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UG56-3", "protein_name": "Phosphatidylserine decarboxylase proenzyme, mitochondrial", "gene_name": "PISD", 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"protein_name": "Phosphatidate phosphatase LPIN1", "gene_name": "LPIN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BQK8-1", "protein_name": "Phosphatidate phosphatase LPIN3", "gene_name": "LPIN3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92539-1", "protein_name": "Phosphatidate phosphatase LPIN2", "gene_name": "LPIN2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UG56-3", "protein_name": "Phosphatidylserine decarboxylase proenzyme, mitochondrial", "gene_name": "PISD", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NVF9-1", "protein_name": "Ethanolamine kinase 2", "gene_name": "ETNK2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HBU6-1", "protein_name": "Ethanolamine kinase 1", "gene_name": "ETNK1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9C0D9-1", "protein_name": "Ethanolaminephosphotransferase 1", "gene_name": "SELENOI", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": 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disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.", "journal": "Brain : a journal of neurology", "date": "2019", "authors": "Vaz FM, McDermott JH, Alders M, Wortmann SB, Kolker S, Pras-Raves ML, Vervaart MAT, van Lenthe H, Luyf ACM, Elfrink HL, Metcalfe K, Cuvertino S, Clayton PE, Yarwood R, Lowe MP, Lovell S, Rogers RC, van Kampen AHC, Ruiter JPN, Wanders RJA, Ferdinandusse S, van Weeghel M, Engelen M, Banka S", "reference": { "type": "PubMed", "id": "31637422", "url": "https://pubmed.ncbi.nlm.nih.gov/31637422" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q99447-1", "protein_name": "Ethanolamine-phosphate cytidylyltransferase", "gene_name": "PCYT2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NZJ4-1", "protein_name": "Sacsin", "gene_name": "SACS", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99447", "url": 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CTP-phosphoethanolamine cytidylyltransferase by complementation in vivo of a yeast mutant.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Nakashima A, Hosaka K, Nikawa J", "reference": { "type": "PubMed", "id": "9083101", "url": "https://pubmed.ncbi.nlm.nih.gov/9083101" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q99447-1", "protein_name": "Ethanolamine-phosphate cytidylyltransferase", "gene_name": "PCYT2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y6K0-1", "protein_name": "Choline/ethanolaminephosphotransferase 1", "gene_name": "CEPT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P35790-1", "protein_name": "Choline kinase alpha", "gene_name": "CHKA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TCT1-1", "protein_name": "Phosphoethanolamine/phosphocholine phosphatase", "gene_name": "PHOSPHO1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TBG4-1", "protein_name": "Ethanolamine-phosphate 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"uniprot_canonical_ac": "P18077-1", "protein_name": "Large ribosomal subunit protein eL33", "gene_name": "RPL35A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P18077", "url": "https://www.uniprot.org/uniprotkb/P18077" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.18535205", "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", 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