[ { "title": "Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.", "journal": "American journal of human genetics", "date": "2018", "authors": "Lassuthova P, Rebelo AP, Ravenscroft G, Lamont PJ, Davis MR, Manganelli F, Feely SM, Bacon C, Brozkova DS, Haberlova J, Mazanec R, Tao F, Saghira C, Abreu L, Courel S, Powell E, Buglo E, Bis DM, Baxter MF, Ong RW, Marns L, Lee YC, Bai Y, Isom DG, Barro-Soria R, Chung KW, Scherer SS, Larsson HP, Laing NG, Choi BO, Seeman P, Shy ME, Santoro L, Zuchner S", "reference": { "type": "PubMed", "id": "29499166", "url": "https://pubmed.ncbi.nlm.nih.gov/29499166" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P05023-1", "protein_name": "Sodium/potassium-transporting ATPase subunit alpha-1", "gene_name": "ATP1A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06685-1", "protein_name": "Sodium/potassium-transporting ATPase subunit alpha-1", "gene_name": "Atp1a1", "tax_name": "Rat" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprotkb/P05023" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.29499166", "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": "Multiple genes encode the human Na+,K+-ATPase catalytic subunit.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1987", "authors": "Shull MM, Lingrel JB", "reference": { "type": "PubMed", "id": "3035563", "url": "https://pubmed.ncbi.nlm.nih.gov/3035563" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P05023-1", "protein_name": "Sodium/potassium-transporting ATPase subunit alpha-1", "gene_name": "ATP1A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P54707-1", "protein_name": "Potassium-transporting ATPase alpha chain 2", "gene_name": "ATP12A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P50993-1", "protein_name": "Sodium/potassium-transporting ATPase subunit alpha-2", "gene_name": "ATP1A2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprotkb/P05023" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.3035563", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The family of human Na+,K+-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit.", "journal": "FEBS Lett.", "date": "1987", "authors": "Sverdlov E D, Monastyrskaya G S, Broude N E, Ushkaryov YuA , Allikmets R L, Melkov A M, Smirnov YuV , Malyshev I V, Dulobova I E, Petrukhin K E", "reference": { "type": "PubMed", "id": "3036582", "url": "https://pubmed.ncbi.nlm.nih.gov/3036582" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P05023-1", "protein_name": "Sodium/potassium-transporting ATPase subunit alpha-1", "gene_name": "ATP1A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P54707-1", "protein_name": "Potassium-transporting ATPase alpha chain 2", "gene_name": "ATP12A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13637-1", "protein_name": "Sodium/potassium-transporting ATPase subunit alpha-3", "gene_name": "ATP1A3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P20648-1", "protein_name": "Potassium-transporting ATPase alpha chain 1", "gene_name": 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Guillem, Duran-Ferrer Marti, Lu Junyan, Granada Isabel, Baptista Maria-Joao, Navarro Jose-Tomas, Espinet Blanca, Puiggros Anna, Tapia Gustavo, Bandiera Laura, De Canal Gabriella, Bonoldi Emanuela, Climent Fina, Ribera-Cortada Inmaculada, Fernandez-Caballero Mariana, De la Banda Esmeralda, Do Nascimento Janilson, Pineda Alberto, Vela Dolors, Rozman Maria, Aymerich Marta, Syrykh Charlotte, Brousset Pierre, Perera Miguel, Yanez Lucrecia, Ortin Jesus Xavier, Tuset Esperanza, Zenz Thorsten, Cook James R, Swerdlow Steven H, Martin-Subero Jose I, Colomer Dolors, Matutes Estella, Bea Silvia, Costa Dolors, Nadeu Ferran, Campo Elias", "reference": { "type": "PubMed", "id": "37560801", "url": "https://pubmed.ncbi.nlm.nih.gov/37560801" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P20749-1", "protein_name": "B-cell lymphoma 3 protein", "gene_name": "BCL3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": 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biological chemistry", "date": "2017", "authors": "Yang J, Kasberg WC, Celo A, Liang Z, Quispe K, Stack MS", "reference": { "type": "PubMed", "id": "28655772", "url": "https://pubmed.ncbi.nlm.nih.gov/28655772" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P50281-1", "protein_name": "Matrix metalloproteinase-14", "gene_name": "MMP14", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P50281", "url": "https://www.uniprot.org/uniprotkb/P50281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 567, "end_pos": 567, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P50281", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P50281" }, { "database": "PubMed", "id": "19458085", "url": 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Anna, Gudowska-Sawczuk Monika, Mroczko Barbara, Nov\u00e1k Vojt\u011bch, Nov\u00e1k Adam, Mitura Przemys\u0142aw, Romanowicz Lech", "reference": { "type": "PubMed", "id": "39125675", "url": "https://pubmed.ncbi.nlm.nih.gov/39125675" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P50281-1", "protein_name": "Matrix metalloproteinase-14", "gene_name": "MMP14", "tax_name": "Human" }, { "uniprot_canonical_ac": "P51511-1", "protein_name": "Matrix metalloproteinase-15", "gene_name": "MMP15", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P50281", "url": "https://www.uniprot.org/uniprotkb/P50281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.39125675", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium.", "journal": "The British journal of ophthalmology", "date": "2015", "authors": "Khan AO, Eisenberger T, Nagel-Wolfrum K, Wolfrum U, Bolz HJ", "reference": { "type": "PubMed", "id": "26294103", "url": "https://pubmed.ncbi.nlm.nih.gov/26294103" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O43822-1", "protein_name": "Cilia- and flagella-associated protein 410", "gene_name": "CFAP410", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8C6G1-1", "protein_name": "Cilia- and flagella-associated protein 410", "gene_name": "Cfap410", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "O75161-1", "protein_name": "Nephrocystin-4", "gene_name": "NPHP4", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { 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Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.", "journal": "PloS one", "date": "2016", "authors": "Wang Z, Iida A, Miyake N, Nishiguchi KM, Fujita K, Nakazawa T, Alswaid A, Albalwi MA, Kim OH, Cho TJ, Lim GY, Isidor B, David A, Rustad CF, Merckoll E, Westvik J, Stattin EL, Grigelioniene G, Kou I, Nakajima M, Ohashi H, Smithson S, Matsumoto N, Nishimura G, Ikegawa S", "reference": { "type": "PubMed", "id": "26974433", "url": "https://pubmed.ncbi.nlm.nih.gov/26974433" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O43822-1", "protein_name": "Cilia- and flagella-associated protein 410", "gene_name": "CFAP410", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8C6G1-1", "protein_name": "Cilia- and flagella-associated protein 410", "gene_name": "Cfap410", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43822", "url": "https://www.uniprot.org/uniprotkb/O43822" } 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Cone-Rod Dystrophy.", "journal": "Investigative ophthalmology & visual science", "date": "2016", "authors": "Suga A, Mizota A, Kato M, Kuniyoshi K, Yoshitake K, Sultan W, Yamazaki M, Shimomura Y, Ikeo K, Tsunoda K, Iwata T", "reference": { "type": "PubMed", "id": "27548899", "url": "https://pubmed.ncbi.nlm.nih.gov/27548899" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O43822-1", "protein_name": "Cilia- and flagella-associated protein 410", "gene_name": "CFAP410", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8C6G1-1", "protein_name": "Cilia- and flagella-associated protein 410", "gene_name": "Cfap410", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43822", "url": "https://www.uniprot.org/uniprotkb/O43822" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.27548899", "abstract": "", 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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": [] } ] }, { "title": "Immunochemical characterization of a novel mitochondrially located protein encoded by a nuclear gene within the DFNB8/10 critical region on 21q22.3.", "journal": "Biochem. 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Commun.", "date": "1997", "authors": "Krohn K, Ovod V, Vilja P, Heino M, Scott H, Kyriakou D S, Antonarakis S, Jacobs H T, Isola J, Peterson P", "reference": { "type": "PubMed", "id": "9325172", "url": "https://pubmed.ncbi.nlm.nih.gov/9325172" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O43822-1", "protein_name": "Cilia- and flagella-associated protein 410", "gene_name": "CFAP410", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43822", "url": "https://www.uniprot.org/uniprotkb/O43822" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9325172", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", 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], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis.", "journal": "Genomics", "date": "1998", "authors": "Scott HS, Kyriakou DS, Peterson P, Heino M, Tahtinen M, Krohn K, Chen H, Rossier C, Lalioti MD, Antonarakis SE", "reference": { "type": "PubMed", "id": "9465297", "url": "https://pubmed.ncbi.nlm.nih.gov/9465297" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O43822-1", "protein_name": "Cilia- 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"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": "Molecular insights into the binding of phosphoinositides to the TH domain region of TIPE proteins.", "journal": 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "TIPE3 protects mice from lipopolysaccharide-induced acute lung injury.", "journal": "Transplant immunology", "date": "2023-04", "authors": "Song Jie, Yang Qiuping, Xiong Hui, Gu Xia, Chen Mo, Zhou Chuanxin, Cai Yao", "reference": { "type": "PubMed", "id": "36842565", "url": "https://pubmed.ncbi.nlm.nih.gov/36842565" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q5GJ75-1", "protein_name": "Tumor necrosis factor alpha-induced protein 8-like protein 3", "gene_name": "TNFAIP8L3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5GJ75", "url": "https://www.uniprot.org/uniprotkb/Q5GJ75" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.36842565", "abstract": "", 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], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Ubiquitin-like protein 5 is a novel player in the UPR-PERK arm and ER stress-induced cell death.", "journal": "The Journal of biological chemistry", "date": "2023-07", "authors": "Wang Wei, Hawkridge Adam M, Ma Yibao, Zhang Bei, Mangrum John B, Hassan Zaneera H, He Tianhai, Blat Sofiya, Guo Chunqing, Zhou Huiping, Liu Jinze, Wang Xiang-Yang, Fang Xianjun", "reference": { "type": "PubMed", "id": "37315790", "url": "https://pubmed.ncbi.nlm.nih.gov/37315790" }, "referenced_glycans": [], "referenced_proteins": 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prototype Lin12-Notch repeat module from human Notch1.", "journal": "Biochemistry", "date": "2003", "authors": "Vardar Didem, North Christopher L, Sanchez-Irizarry Cheryll, Aster Jon C, Blacklow Stephen C", "reference": { "type": "PubMed", "id": "12795601", "url": "https://pubmed.ncbi.nlm.nih.gov/12795601" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P46531-1", "protein_name": "Neurogenic locus notch homolog protein 1", "gene_name": "NOTCH1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12795601", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": 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Cell. Biol.", "date": "2011", "authors": "Vasquez-Del Carpio Rodrigo, Kaplan Fred M, Weaver Kelly L, VanWye Jeffrey D, Alves-Guerra Marie-Clotilde, Robbins David J, Capobianco Anthony J", "reference": { "type": "PubMed", "id": "21245387", "url": "https://pubmed.ncbi.nlm.nih.gov/21245387" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P46531-1", "protein_name": "Neurogenic locus notch homolog protein 1", "gene_name": "NOTCH1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13573-1", "protein_name": "SNW domain-containing protein 1", "gene_name": "SNW1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.21245387", "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": "Notch1 binds and induces degradation of Snail in hepatocellular carcinoma.", "journal": "BMC Biol.", "date": "2011", "authors": "Lim SO, Kim HS, Quan X, Ahn SM, Kim H, Hsieh D, Seong JK, Jung G", "reference": { "type": "PubMed", "id": "22128911", "url": "https://pubmed.ncbi.nlm.nih.gov/22128911" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P46531-1", "protein_name": "Neurogenic locus notch homolog protein 1", "gene_name": "NOTCH1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95863-1", "protein_name": "Zinc finger protein SNAI1", "gene_name": "SNAI1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q00987-1", "protein_name": "E3 ubiquitin-protein ligase Mdm2", "gene_name": "MDM2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 100, "end_pos": 100, "sequence_org": "S", "sequence_mut": "A", "comment": "Lower sensitivity to BTRC-triggered degradation and impaired phosphorylation by GSK3B; when associated with A-96. 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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": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "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 }, { "field": "exact_sites", "count": 1 }, { "field": "exact_o_linked_sites", "count": 1 }, { "field": "fuzzy_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "icn3d_view.label", "icn3d_view.url", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl", "mining_tool", "filter_code", "uniprot_canonical_ac" ] } ] }, { "title": "Mutations in NOTCH1 cause Adams-Oliver syndrome.", "journal": "American journal of human genetics", "date": "2014", "authors": "Stittrich AB, Lehman A, Bodian DL, Ashworth J, Zong Z, Li H, Lam P, Khromykh A, Iyer RK, Vockley JG, Baveja R, Silva ES, Dixon J, Leon EL, Solomon BD, Glusman G, Niederhuber JE, Roach JC, Patel MS", "reference": { "type": "PubMed", "id": "25132448", "url": "https://pubmed.ncbi.nlm.nih.gov/25132448" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P46531-1", "protein_name": "Neurogenic locus notch homolog protein 1", "gene_name": "NOTCH1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.25132448", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { 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