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Chem.", "date": "2001", "authors": "Leung JK, Berube N, Venable S, Ahmed S, Timchenko N, Pereira-Smith OM", "reference": { "type": "PubMed", "id": "11500496", "url": "https://pubmed.ncbi.nlm.nih.gov/11500496" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UBU8-1", "protein_name": "Mortality factor 4-like protein 1", "gene_name": "MORF4L1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y605-1", "protein_name": "MORF4 family-associated protein 1", "gene_name": "MRFAP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBU8", "url": "https://www.uniprot.org/uniprotkb/Q9UBU8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11500496", "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": "MRG15, a novel chromodomain protein, is present in two distinct multiprotein complexes involved in transcriptional activation.", "journal": "J. 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Chem.", "date": "2002", "authors": "Pardo PS, Leung JK, Lucchesi JC, Pereira-Smith OM", "reference": { "type": "PubMed", "id": "12397079", "url": "https://pubmed.ncbi.nlm.nih.gov/12397079" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UBU8-1", "protein_name": "Mortality factor 4-like protein 1", "gene_name": "MORF4L1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H7Z6-1", "protein_name": "Histone acetyltransferase KAT8", "gene_name": "KAT8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y605-1", "protein_name": "MORF4 family-associated protein 1", "gene_name": "MRFAP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBU8", "url": "https://www.uniprot.org/uniprotkb/Q9UBU8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12397079", "abstract": "", "glycosylation": [], "mutagenesis": 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"Structure (London, England : 1993)", "date": "2006", "authors": "Bowman BR, Moure CM, Kirtane BM, Welschhans RL, Tominaga K, Pereira-Smith OM, Quiocho FA", "reference": { "type": "PubMed", "id": "16407074", "url": "https://pubmed.ncbi.nlm.nih.gov/16407074" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UBU8-1", "protein_name": "Mortality factor 4-like protein 1", "gene_name": "MORF4L1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBU8", "url": "https://www.uniprot.org/uniprotkb/Q9UBU8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 208, "end_pos": 208, "sequence_org": "V", "sequence_mut": "E", "comment": "Abolishes binding to MRFAP1.", "evidence": [ { "database": "UniProtKB", "id": "Q9UBU8", "url": "https://www.uniprot.org/uniprotkb/Q9UBU8" }, { "database": "PubMed", "id": 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"id": "Q9UBU8", "url": "https://www.uniprot.org/uniprotkb/Q9UBU8" }, { "database": "PubMed", "id": "16407074", "url": "https://pubmed.ncbi.nlm.nih.gov/16407074" } ], "uniprot_canonical_ac": "Q9UBU8-1" } ], "record_id": "pubmed.16407074", "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": 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human MRG15 uses a shallow hydrophobic pocket to interact with the N-terminal region of PAM14.", "journal": "Protein Sci.", "date": "2006", "authors": "Zhang P, Zhao J, Wang B, Du J, Lu Y, Chen J, Ding J", "reference": { "type": "PubMed", "id": "17008723", "url": "https://pubmed.ncbi.nlm.nih.gov/17008723" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UBU8-1", "protein_name": "Mortality factor 4-like protein 1", "gene_name": "MORF4L1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y605-1", "protein_name": "MORF4 family-associated protein 1", "gene_name": "MRFAP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBU8", "url": "https://www.uniprot.org/uniprotkb/Q9UBU8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.17008723", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], 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Cell. Physiol.", "date": "2009", "authors": "Gironella M, Malicet C, Cano C, Sandi MJ, Hamidi T, Tauil RM, Baston M, Valaco P, Moreno S, Lopez F, Neira JL, Dagorn JC, Iovanna JL", "reference": { "type": "PubMed", "id": "19650074", "url": "https://pubmed.ncbi.nlm.nih.gov/19650074" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UBU8-1", "protein_name": "Mortality factor 4-like protein 1", "gene_name": "MORF4L1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60356-1", "protein_name": "Nuclear protein 1", "gene_name": "NUPR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q68DK7-1", "protein_name": "Male-specific lethal 1 homolog", "gene_name": "MSL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12888-1", "protein_name": "TP53-binding protein 1", "gene_name": "TP53BP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBU8", "url": 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homology-directed repair of chromosomal breaks.", "journal": "Journal of cell science", "date": "2010", "authors": "Hayakawa T, Zhang F, Hayakawa N, Ohtani Y, Shinmyozu K, Nakayama J, Andreassen PR", "reference": { "type": "PubMed", "id": "20332121", "url": "https://pubmed.ncbi.nlm.nih.gov/20332121" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UBU8-1", "protein_name": "Mortality factor 4-like protein 1", "gene_name": "MORF4L1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86YC2-1", "protein_name": "Partner and localizer of BRCA2", "gene_name": "PALB2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBU8", "url": "https://www.uniprot.org/uniprotkb/Q9UBU8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.20332121", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], 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Cell", "date": "2012", "authors": "Chen D, Fan W, Lu Y, Ding X, Chen S, Zhong Q", "reference": { "type": "PubMed", "id": "22342342", "url": "https://pubmed.ncbi.nlm.nih.gov/22342342" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O94817-1", "protein_name": "Ubiquitin-like protein ATG12", "gene_name": "ATG12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7Z6L1-1", "protein_name": "Tectonin beta-propeller repeat-containing protein 1", "gene_name": "TECPR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H1Y0-1", "protein_name": "Autophagy protein 5", "gene_name": "ATG5", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O94817", "url": "https://www.uniprot.org/uniprotkb/O94817" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.22342342", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Structural basis of ATG3 recognition by the autophagic ubiquitin-like protein ATG12.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2013", "authors": "Metlagel Zoltan, Otomo Chinatsu, Takaesu Giichi, Otomo Takanori", "reference": { "type": "PubMed", "id": "24191030", "url": "https://pubmed.ncbi.nlm.nih.gov/24191030" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O94817-1", "protein_name": "Ubiquitin-like protein ATG12", "gene_name": "ATG12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NT62-1", "protein_name": "Ubiquitin-like-conjugating enzyme ATG3", "gene_name": "ATG3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H1Y0-1", "protein_name": "Autophagy protein 5", "gene_name": "ATG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q676U5-1", "protein_name": "Autophagy-related protein 16-1", "gene_name": "ATG16L1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O94817", "url": "https://www.uniprot.org/uniprotkb/O94817" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 144, "end_pos": 151, "sequence_org": "EEEEDEDE", "sequence_mut": "AAAAAAAA", "comment": "Strongly decreases affinity for the complex ATG12:ATG5:ATG16L1. Severely decreases phosphatidylethanolamine (PE)-conjugated ATG8-like proteins formation.", "evidence": [ { "database": "UniProtKB", "id": "Q9NT62", "url": "https://www.uniprot.org/uniprotkb/Q9NT62" }, { "database": "PubMed", "id": "24191030", "url": "https://pubmed.ncbi.nlm.nih.gov/24191030" } ], "uniprot_canonical_ac": "Q9NT62-1" }, { "start_pos": 156, "end_pos": 156, "sequence_org": "D", "sequence_mut": "A", "comment": "Strongly decreases affinity for the complex ATG12:ATG5:ATG16L1. Impairs interaction with the complex ATG12:ATG5:ATG16L1; when associated with A-157. Impairs phosphatidylethanolamine (PE)-conjugated ATG8-like protein formation. Loss of phosphatidylethanolamine (PE)-conjugated ATG8-like proteins formation; when associated with A-157. Impairs interaction with ATG12:ATG5; when associated with A-157. Does not affect interaction with ATG7; when associated with A-157. Does not affect the formation of the ATG8-like protein:ATG3 intermediate complex; when associated with A-157. Affects modestly the ATG3-ATG7 interaction; when associated with A-157. Reduces the thioester-linkage formation with GABARAP; when associated with A-157.", "evidence": [ { "database": "UniProtKB", "id": "Q9NT62", "url": "https://www.uniprot.org/uniprotkb/Q9NT62" }, { "database": "PubMed", "id": "26043688", "url": "https://pubmed.ncbi.nlm.nih.gov/26043688" }, { "database": "PubMed", "id": "24191030", "url": "https://pubmed.ncbi.nlm.nih.gov/24191030" } ], "uniprot_canonical_ac": "Q9NT62-1" }, { "start_pos": 157, "end_pos": 157, "sequence_org": "M", "sequence_mut": "A", "comment": "Strongly decreases affinity for the complex ATG12:ATG5:ATG16L1. Impairs interaction with the complex ATG12:ATG5:ATG16L1; when associated with A-156. Impairs phosphatidylethanolamine (PE)-conjugated ATG8-like proteins formation. Loss of phosphatidylethanolamine (PE)-conjugated ATG8-like proteins formation; when associated with A-156. Impairs interaction with ATG12:ATG5; when associated with A-156. Does not affect interaction with ATG7; when associated with A-156. Does not affect the formation of the ATG8-like protein:ATG3 intermediate complex; when associated with A-156. Affects modestly the ATG3-ATG7 interaction; when associated with A-156. Reduces the thioester-linkage formation with GABARAP; when associated with A-156.", "evidence": [ { "database": "UniProtKB", "id": "Q9NT62", "url": "https://www.uniprot.org/uniprotkb/Q9NT62" }, { "database": "PubMed", "id": "26043688", "url": "https://pubmed.ncbi.nlm.nih.gov/26043688" }, { "database": "PubMed", "id": "24191030", "url": "https://pubmed.ncbi.nlm.nih.gov/24191030" } ], "uniprot_canonical_ac": "Q9NT62-1" }, { "start_pos": 160, "end_pos": 160, "sequence_org": "Y", "sequence_mut": "A", "comment": "Strongly decreases affinity for the complex ATG12:ATG5:ATG16L1. Affects modestly the ATG3-ATG7 interaction. Reduces the thioester-linkage formation with GABARAP.", "evidence": [ { "database": "UniProtKB", "id": "Q9NT62", "url": "https://www.uniprot.org/uniprotkb/Q9NT62" }, { "database": "PubMed", "id": "26043688", "url": "https://pubmed.ncbi.nlm.nih.gov/26043688" }, { "database": "PubMed", "id": "24191030", "url": "https://pubmed.ncbi.nlm.nih.gov/24191030" } ], "uniprot_canonical_ac": "Q9NT62-1" }, { "start_pos": 161, "end_pos": 161, "sequence_org": "E", "sequence_mut": "A", "comment": "Strongly decreases affinity for the complex ATG12:ATG5:ATG16L1.", "evidence": [ { "database": "UniProtKB", "id": "Q9NT62", "url": "https://www.uniprot.org/uniprotkb/Q9NT62" }, { "database": "PubMed", "id": "24191030", "url": "https://pubmed.ncbi.nlm.nih.gov/24191030" } ], "uniprot_canonical_ac": "Q9NT62-1" }, { "start_pos": 264, "end_pos": 264, "sequence_org": "C", "sequence_mut": "A", "comment": "Does not affect interaction with ATG12:ATG5. Impairs MAP1LC3A lipidation. Impairs MAP1LC3B lipidation. Impairs ATG3:ATG8-like proteins thioester complex formation.", "evidence": [ { "database": "UniProtKB", "id": "Q9NT62", "url": "https://www.uniprot.org/uniprotkb/Q9NT62" }, { "database": "PubMed", "id": "24191030", "url": "https://pubmed.ncbi.nlm.nih.gov/24191030" }, { "database": "PubMed", "id": "37252361", "url": "https://pubmed.ncbi.nlm.nih.gov/37252361" } ], "uniprot_canonical_ac": "Q9NT62-1" } ], "record_id": "pubmed.24191030", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 4 } ], "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": "RAB33B recruits the ATG16L1 complex to the phagophore via a noncanonical RAB binding protein.", "journal": "Autophagy", "date": "2021", "authors": "Pantoom S, Konstantinidis G, Voss S, Han H, Hofnagel O, Li Z, Wu YW", "reference": { "type": "PubMed", "id": "32960676", "url": "https://pubmed.ncbi.nlm.nih.gov/32960676" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O94817-1", "protein_name": "Ubiquitin-like protein ATG12", "gene_name": "ATG12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8C0J2-1", "protein_name": "Autophagy-related protein 16-1", "gene_name": "Atg16l1", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q9H1Y0-1", "protein_name": "Autophagy protein 5", "gene_name": "ATG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q676U5-1", "protein_name": "Autophagy-related protein 16-1", "gene_name": "ATG16L1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H082-1", "protein_name": "Ras-related protein Rab-33B", "gene_name": "RAB33B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O94817", "url": "https://www.uniprot.org/uniprotkb/O94817" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 206, "end_pos": 206, "sequence_org": "N", "sequence_mut": "A", "comment": "Decreased binding affinity by 36-fold with RAB33B. Decreased binding affinity by 254-fold with RAB33B and colocalization to phagophore; when associated with A-209. No change in interaction with ATG5-ATG12 complex; when associated with A-209.", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "PubMed", "id": "32960676", "url": "https://pubmed.ncbi.nlm.nih.gov/32960676" } ], "uniprot_canonical_ac": "Q676U5-1" }, { "start_pos": 209, "end_pos": 209, "sequence_org": "N", "sequence_mut": "A", "comment": "Decreased binding affinity by 9-fold with RAB33B. Decreased binding affinity by 254-fold with RAB33B and colocalization to phagophore; when associated with A-206. No change in interaction with ATG5-ATG12 complex; when associated with A-209.", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "PubMed", "id": "32960676", "url": "https://pubmed.ncbi.nlm.nih.gov/32960676" } ], "uniprot_canonical_ac": "Q676U5-1" }, { "start_pos": 35, "end_pos": 35, "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of interaction with ATG16L1. No change in prenylation activity. Loss of interaction with ATG12-ATG5-ATG16L1 complex and colocalization to phagophore; when associated with A-85.", "evidence": [ { "database": "UniProtKB", "id": "Q9H082", "url": "https://www.uniprot.org/uniprotkb/Q9H082" }, { "database": "PubMed", "id": "32960676", "url": "https://pubmed.ncbi.nlm.nih.gov/32960676" } ], "uniprot_canonical_ac": "Q9H082-1" }, { "start_pos": 66, "end_pos": 66, "sequence_org": "I", "sequence_mut": "A", "comment": "Decreased binding affinity by 273-fold with ATG16L1. No change in prenylation activity. Loss of interaction with ATG16L1 and colocalization to phagophore; when associated with A-95.", "evidence": [ { "database": "UniProtKB", "id": "Q9H082", "url": "https://www.uniprot.org/uniprotkb/Q9H082" }, { "database": "PubMed", "id": "32960676", "url": "https://pubmed.ncbi.nlm.nih.gov/32960676" } ], "uniprot_canonical_ac": "Q9H082-1" }, { "start_pos": 85, "end_pos": 85, "sequence_org": "Q", "sequence_mut": "A", "comment": "Loss of interaction with ATG16L1. No change in prenylation activity. Loss of interaction with ATG12-ATG5-ATG16L1 complex and colocalization to phagophore; when associated with A-35.", "evidence": [ { "database": "UniProtKB", "id": "Q9H082", "url": "https://www.uniprot.org/uniprotkb/Q9H082" }, { "database": "PubMed", "id": "32960676", "url": "https://pubmed.ncbi.nlm.nih.gov/32960676" } ], "uniprot_canonical_ac": "Q9H082-1" }, { "start_pos": 95, "end_pos": 95, "sequence_org": "F", "sequence_mut": "A", "comment": "Decreased binding affinity by 179-fold with ATG16L1. No change in prenylation activity. Loss of interaction with ATG16L1 and colocalization to phagophore; when associated with A-66.", "evidence": [ { "database": "UniProtKB", "id": "Q9H082", "url": "https://www.uniprot.org/uniprotkb/Q9H082" }, { "database": "PubMed", "id": "32960676", "url": "https://pubmed.ncbi.nlm.nih.gov/32960676" } ], "uniprot_canonical_ac": "Q9H082-1" } ], "record_id": "pubmed.32960676", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 5 } ], "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": "ATG12 deficiency results in intracellular glutamine depletion, abrogation of tumor hypoxia and a favorable prognosis in cancer.", "journal": "Autophagy", "date": "2022", "authors": "Keulers TG, Koch A, van Gisbergen MW, Barbeau LMO, Zonneveld MI, de Jong MC, Savelkouls KGM, Wanders RG, Bussink J, Melotte V, Rouschop KMA", "reference": { "type": "PubMed", "id": "34904929", "url": "https://pubmed.ncbi.nlm.nih.gov/34904929" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O94817-1", "protein_name": "Ubiquitin-like protein ATG12", "gene_name": "ATG12", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O94817", "url": "https://www.uniprot.org/uniprotkb/O94817" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], 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Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy.", "journal": "J. Child Neurol.", "date": "2018", "authors": "Sharma Suvasini, Singh Preeti, Fernandez-Vizarra Erika, Zeviani Massimo, Van der Knaap Marjo S, Saran Ravindra Kumar", "reference": { "type": "PubMed", "id": "29577824", "url": "https://pubmed.ncbi.nlm.nih.gov/29577824" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96IL0-1", "protein_name": "Cytochrome c oxidase assembly factor 8", "gene_name": "COA8", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96IL0", "url": "https://www.uniprot.org/uniprotkb/Q96IL0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.29577824", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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"Capn4 contributes to tumor invasion and metastasis in gastric cancer via activation of the Wnt/beta-catenin/MMP9 signalling pathways.", "journal": "Experimental cell research", "date": "2020", "authors": "Zhao C, Yuan G, Jiang Y, Xu J, Ye L, Zhan W, Wang J", "reference": { "type": "PubMed", "id": "32777225", "url": "https://pubmed.ncbi.nlm.nih.gov/32777225" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04632-1", "protein_name": "Calpain small subunit 1", "gene_name": "CAPNS1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04632", "url": "https://www.uniprot.org/uniprotkb/P04632" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.32777225", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", 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Med. Open", "date": "2023", "authors": "Postma Alex V, Rapp Christina K, Knoflach Katrin, Volk Alexander E, Lemke Johannes R, Ackermann Maximilian, Regamey Nicolas, Latzin Philipp, Celant Lucas, Jansen Samara M A, Bogaard Harm J, Ilgun Aho, Alders Mari\u00eblle, van Spaendonck-Zwarts Karin Y, Jonigk Danny, Klein Christoph, Gr\u00e4f Stefan, Kubisch Christian, Houweling Arjan C, Griese Matthias", "reference": { "type": "PubMed", "id": "38230350", "url": "https://pubmed.ncbi.nlm.nih.gov/38230350" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04632-1", "protein_name": "Calpain small subunit 1", "gene_name": "CAPNS1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04632", "url": "https://www.uniprot.org/uniprotkb/P04632" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38230350", "abstract": "", 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calpain at 1.9 A resolution and its role in enzyme assembly, regulation, and inhibitor binding.", "journal": "Nature structural biology", "date": "1997", "authors": "Lin GD, Chattopadhyay D, Maki M, Wang KK, Carson M, Jin L, Yuen PW, Takano E, Hatanaka M, DeLucas LJ, Narayana SV", "reference": { "type": "PubMed", "id": "9228946", "url": "https://pubmed.ncbi.nlm.nih.gov/9228946" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04632-1", "protein_name": "Calpain small subunit 1", "gene_name": "CAPNS1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P20700-1", "protein_name": "Lamin-B1", "gene_name": "LMNB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P04179-1", "protein_name": "Superoxide dismutase [Mn], mitochondrial", "gene_name": "SOD2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q15078-1", "protein_name": "Cyclin-dependent kinase 5 activator 1", "gene_name": "CDK5R1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43521-1", 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"uniprot_canonical_ac": "P17655-1", "protein_name": "Calpain-2 catalytic subunit", "gene_name": "CAPN2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07384-1", "protein_name": "Calpain-1 catalytic subunit", "gene_name": "CAPN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P20810-1", "protein_name": "Calpastatin", "gene_name": "CAST", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05067-1", "protein_name": "Amyloid-beta precursor protein", "gene_name": "APP", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05412-1", "protein_name": "Transcription factor Jun", "gene_name": "JUN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q08379-1", "protein_name": "Golgin subfamily A member 2", "gene_name": "GOLGA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P62258-1", "protein_name": "14-3-3 protein epsilon", "gene_name": "YWHAE", "tax_name": "Human" }, { "uniprot_canonical_ac": "P30304-1", "protein_name": "M-phase inducer phosphatase 1", "gene_name": "CDC25A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P30307-1", "protein_name": "M-phase inducer phosphatase 3", "gene_name": "CDC25C", "tax_name": "Human" }, { "uniprot_canonical_ac": "P30305-1", "protein_name": "M-phase inducer phosphatase 2", "gene_name": "CDC25B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04632", "url": "https://www.uniprot.org/uniprotkb/P04632" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9228946", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 22 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { 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"gene_name": "SLC35D2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NTN3-1", "protein_name": "Nucleotide sugar transporter SLC35D1", "gene_name": "SLC35D1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60701-1", "protein_name": "UDP-glucose 6-dehydrogenase", "gene_name": "UGDH", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NBZ7-1", "protein_name": "UDP-glucuronic acid decarboxylase 1", "gene_name": "UXS1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16851", "url": "https://www.uniprot.org/uniprotkb/Q16851" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11322953", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ 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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_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": "Characterization of human UDP-glucose dehydrogenase. CYS-276 is required for the second of two successive oxidations.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Sommer BJ, Barycki JJ, Simpson MA", "reference": { "type": "PubMed", "id": "15044486", "url": "https://pubmed.ncbi.nlm.nih.gov/15044486" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q16851-1", "protein_name": "UTP--glucose-1-phosphate uridylyltransferase", "gene_name": "UGP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q76EJ3-1", "protein_name": "Nucleotide sugar transporter SLC35D2", "gene_name": "SLC35D2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NTN3-1", "protein_name": "Nucleotide sugar transporter SLC35D1", "gene_name": "SLC35D1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60701-1", "protein_name": "UDP-glucose 6-dehydrogenase", "gene_name": "UGDH", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NBZ7-1", "protein_name": "UDP-glucuronic acid decarboxylase 1", "gene_name": "UXS1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16851", "url": "https://www.uniprot.org/uniprotkb/Q16851" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15044486", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 5 } ], "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 }, { 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"count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Gentry MS, Worby CA, Dixon JE", "reference": { "type": "PubMed", "id": "15930137", "url": "https://pubmed.ncbi.nlm.nih.gov/15930137" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q16851-1", "protein_name": "UTP--glucose-1-phosphate uridylyltransferase", "gene_name": "UGP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P36871-1", "protein_name": "Phosphoglucomutase-1", "gene_name": "PGM1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P46976-1", "protein_name": "Glycogenin-1", "gene_name": "GYG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q04446-1", "protein_name": "1,4-alpha-glucan-branching 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"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 }, 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"authors": "Muraoka Masatoshi, Miki Toshiaki, Ishida Nobuhiro, Hara Takahiko, Kawakita Masao", "reference": { "type": "PubMed", "id": "17599910", "url": "https://pubmed.ncbi.nlm.nih.gov/17599910" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q16851-1", "protein_name": "UTP--glucose-1-phosphate uridylyltransferase", "gene_name": "UGP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q76EJ3-1", "protein_name": "Nucleotide sugar transporter SLC35D2", "gene_name": "SLC35D2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NTN3-1", "protein_name": "Nucleotide sugar transporter SLC35D1", "gene_name": "SLC35D1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60701-1", "protein_name": "UDP-glucose 6-dehydrogenase", "gene_name": "UGDH", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NBZ7-1", "protein_name": "UDP-glucuronic acid decarboxylase 1", "gene_name": "UXS1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, 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"Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Tagliabracci VS, Turnbull J, Wang W, Girard JM, Zhao X, Skurat AV, Delgado-Escueta AV, Minassian BA, Depaoli-Roach AA, Roach PJ", "reference": { "type": "PubMed", "id": "18040046", "url": "https://pubmed.ncbi.nlm.nih.gov/18040046" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q16851-1", "protein_name": "UTP--glucose-1-phosphate uridylyltransferase", "gene_name": "UGP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9WUA5-1", "protein_name": "Laforin", "gene_name": "Epm2a", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "P36871-1", "protein_name": "Phosphoglucomutase-1", "gene_name": "PGM1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P46976-1", "protein_name": "Glycogenin-1", "gene_name": "GYG1", "tax_name": 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Nearly abolishes phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA5", "url": "https://www.uniprot.org/uniprotkb/Q9WUA5" }, { "database": "PubMed", "id": "16971387", "url": "https://pubmed.ncbi.nlm.nih.gov/16971387" }, { "database": "PubMed", "id": "18040046", "url": "https://pubmed.ncbi.nlm.nih.gov/18040046" } ], "uniprot_canonical_ac": "Q9WUA5-1" } ], "record_id": "pubmed.18040046", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 15 } ], "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": 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"protein_name": "UTP--glucose-1-phosphate uridylyltransferase", "gene_name": "UGP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P36871-1", "protein_name": "Phosphoglucomutase-1", "gene_name": "PGM1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P46976-1", "protein_name": "Glycogenin-1", "gene_name": "GYG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q04446-1", "protein_name": "1,4-alpha-glucan-branching enzyme", "gene_name": "GBE1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13807-1", "protein_name": "Glycogen [starch] synthase, muscle", "gene_name": "GYS1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UQK1-1", "protein_name": "Protein phosphatase 1 regulatory subunit 3C", "gene_name": "PPP1R3C", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6VVB1-1", "protein_name": "E3 ubiquitin-protein ligase NHLRC1", "gene_name": "NHLRC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P62979-1", "protein_name": "Ubiquitin-ribosomal protein eS31 fusion protein", "gene_name": "RPS27A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P54840-1", "protein_name": "Glycogen [starch] synthase, liver", "gene_name": "GYS2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P0CG47-1", "protein_name": "Polyubiquitin-B", "gene_name": "UBB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P62987-1", "protein_name": "Ubiquitin-ribosomal protein eL40 fusion protein", "gene_name": "UBA52", "tax_name": "Human" }, { "uniprot_canonical_ac": "B3EWF7-1", "protein_name": "Laforin, isoform 9", "gene_name": "EPM2A", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15488-1", "protein_name": "Glycogenin-2", "gene_name": "GYG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P0CG48-1", "protein_name": "Polyubiquitin-C", "gene_name": "UBC", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16851", "url": "https://www.uniprot.org/uniprotkb/Q16851" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs587777375", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587777375" }, { "id": "19699667", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19699667" } ], "glycoeffect": [], "start_pos": 56, "end_pos": 56, "sequence_org": "D", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "19", "chr_pos": "48991439_48991440", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D56", "disease": [ { "disease_id": "DOID:0061272", "recommended_name": { "id": "DOID:0061272", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0061272", "name": "muscle glycogen storage disease", "description": "A glycogen storage disease charaterized by childhood-onset condition with exercise intolerance, arrhythmia, cardiomyopathy, and sudden death that has_material_basis_in homozygous mutation in the GYS1 gene which encodes muscle glycogen synthase, on chromosome 19q13." }, "synonyms": [ { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "glycogen storage disease due to muscle and heart glycogen synthase deficiency", "description": "A glycogen storage disease characterized by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase." }, { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "GSD due to muscle and heart glycogen synthase deficiency", "description": "" }, { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "GSD type 0b", "description": "" }, { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "glycogen storage disease due to glycogen synthase deficiency of heart", "description": "" }, { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "glycogen storage disease type 0b", "description": "" }, { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "glycogenosis due to muscle and heart 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Rep.", "date": "2015", "authors": "Fuhring JI, Cramer JT, Schneider J, Baruch P, Gerardy-Schahn R, Fedorov R", "reference": { "type": "PubMed", "id": "25860585", "url": "https://pubmed.ncbi.nlm.nih.gov/25860585" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q16851-1", "protein_name": "UTP--glucose-1-phosphate uridylyltransferase", "gene_name": "UGP2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16851", "url": "https://www.uniprot.org/uniprotkb/Q16851" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.25860585", "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", 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