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"American journal of physiology. Cell physiology", "date": "2002", "authors": "Brett CL, Wei Y, Donowitz M, Rao R", "reference": { "type": "PubMed", "id": "11940519", "url": "https://pubmed.ncbi.nlm.nih.gov/11940519" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8IVB4-1", "protein_name": "Sodium/hydrogen exchanger 9", "gene_name": "SLC9A9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P19634-1", "protein_name": "Sodium/hydrogen exchanger 1", "gene_name": "SLC9A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14940-1", "protein_name": "Sodium/hydrogen exchanger 5", "gene_name": "SLC9A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96T83-1", "protein_name": "Sodium/hydrogen exchanger 7", "gene_name": "SLC9A7", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6AI14-1", "protein_name": "Sodium/hydrogen exchanger 4", "gene_name": "SLC9A4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92581-2", "protein_name": "Sodium/hydrogen exchanger 6", "gene_name": "SLC9A6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UBY0-1", "protein_name": "Sodium/hydrogen exchanger 2", "gene_name": "SLC9A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2E8-1", "protein_name": "Sodium/hydrogen exchanger 8", "gene_name": "SLC9A8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P48764-1", "protein_name": "Sodium/hydrogen exchanger 3", "gene_name": "SLC9A3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IVB4", "url": "https://www.uniprot.org/uniprotkb/Q8IVB4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11940519", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 9 } ], "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": "Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype.", "journal": "J. Med. Genet.", "date": "2003", "authors": "de Silva M G, Elliott K, Dahl H-H, Fitzpatrick E, Wilcox S, Delatycki M, Williamson R, Efron D, Lynch M, Forrest S", "reference": { "type": "PubMed", "id": "14569117", "url": "https://pubmed.ncbi.nlm.nih.gov/14569117" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8IVB4-1", "protein_name": "Sodium/hydrogen exchanger 9", "gene_name": "SLC9A9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IZD9-1", "protein_name": "Dedicator of cytokinesis protein 3", "gene_name": "DOCK3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IVB4", "url": "https://www.uniprot.org/uniprotkb/Q8IVB4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.14569117", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { 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"field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Four Na+/H+ exchanger isoforms are distributed to Golgi and post-Golgi compartments and are involved in organelle pH regulation.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Nakamura N, Tanaka S, Teko Y, Mitsui K, Kanazawa H", "reference": { "type": "PubMed", "id": "15522866", "url": "https://pubmed.ncbi.nlm.nih.gov/15522866" }, 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Biol. Chem.", "date": "2008", "authors": "Ohgaki Ryuichi, Fukura Naomi, Matsushita Masafumi, Mitsui Keiji, Kanazawa Hiroshi", "reference": { "type": "PubMed", "id": "18057008", "url": "https://pubmed.ncbi.nlm.nih.gov/18057008" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8IVB4-1", "protein_name": "Sodium/hydrogen exchanger 9", "gene_name": "SLC9A9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92581-2", "protein_name": "Sodium/hydrogen exchanger 6", "gene_name": "SLC9A6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P63244-1", "protein_name": "Small ribosomal subunit protein RACK1", "gene_name": "RACK1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IVB4", "url": "https://www.uniprot.org/uniprotkb/Q8IVB4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.18057008", "abstract": "", 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The polysialyltransferase ST8Sia II/STX: posttranslational processing and role of autopolysialylation in the polysialylation of neural cell adhesion molecule.", "journal": "Glycobiology", "date": "2001-11", "authors": "Close B E, Wilkinson J M, Bohrer T J, Goodwin C P, Broom L J, Colley K J", "reference": { "type": "PubMed", "id": "11744634", "url": "https://pubmed.ncbi.nlm.nih.gov/11744634" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q92186-1", "protein_name": "Alpha-2,8-sialyltransferase 8B", "gene_name": "ST8SIA2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92186", "url": "https://www.uniprot.org/uniprotkb/Q92186" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], 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"field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Identification of potential glycan cancer markers with sialic acid attached to sialic acid and up-regulated fucosylated galactose structures in epidermal growth factor receptor secreted from A431 cell line.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013-05", "authors": "Wu Shiaw-Lin, Taylor Allen D, Lu Qiaozhen, Hanash Samir M, Im Hogune, Snyder Michael, Hancock William S", "reference": { "type": "PubMed", "id": "23371026", "url": "https://pubmed.ncbi.nlm.nih.gov/23371026" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q92186-1", "protein_name": "Alpha-2,8-sialyltransferase 8B", "gene_name": "ST8SIA2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92186", "url": "https://www.uniprot.org/uniprotkb/Q92186" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "automatic_literature_mining", "site_category_dict": { "automatic_literature_mining": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 151, "start_aa": "Asn", "end_pos": 151, "end_aa": "Asn", 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"n_linked_sites", "count": 1 }, { "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 }, { "field": "exact_sites", "count": 1 }, { "field": "exact_n_linked_sites", "count": 1 }, { "field": "fuzzy_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl", "mining_tool", "filter_code", "uniprot_canonical_ac" ] }, { "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": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "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 }, { "field": "exact_sites", "count": 1 }, { "field": "exact_n_linked_sites", "count": 1 }, { "field": "fuzzy_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl", "mining_tool", "filter_code", "uniprot_canonical_ac" ] } ] }, { "title": "Different properties of polysialic acids synthesized by the polysialyltransferases ST8SIA2 and ST8SIA4.", "journal": "Glycobiology", "date": "2017", "authors": "Mori A, Hane M, Niimi Y, Kitajima K, Sato C", "reference": { "type": "PubMed", "id": "28810663", "url": "https://pubmed.ncbi.nlm.nih.gov/28810663" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q92186-1", "protein_name": "Alpha-2,8-sialyltransferase 8B", "gene_name": "ST8SIA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92187-1", "protein_name": "CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase", "gene_name": "ST8SIA4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13591-2", "protein_name": "Neural cell adhesion molecule 1", "gene_name": "NCAM1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92186", "url": "https://www.uniprot.org/uniprotkb/Q92186" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 134, 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"journal": "The Journal of biological chemistry", "date": "2024-01", "authors": "Hatanaka Rina, Hane Masaya, Hayakawa Kaito, Morishita Sayo, Ohno Shiho, Yamaguchi Yoshiki, Wu Di, Kitajima Ken, Sato Chihiro", "reference": { "type": "PubMed", "id": "38103644", "url": "https://pubmed.ncbi.nlm.nih.gov/38103644" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q92186-1", "protein_name": "Alpha-2,8-sialyltransferase 8B", "gene_name": "ST8SIA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92187-1", "protein_name": "CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase", "gene_name": "ST8SIA4", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92186", "url": "https://www.uniprot.org/uniprotkb/Q92186" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38103644", "abstract": "", "glycosylation": [], 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"glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 459, "start_aa": "Asn", "end_pos": 459, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn459", "evidence": [ { "id": "P13591", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P13591#ptm_processing" }, { "id": "16335952", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16335952" }, { "id": "9774483", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9774483" } ], "filter_code": "001000000000000000000.00010000000000.00.01101", "uniprot_canonical_ac": "P13591-2" }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 488, "start_aa": "Asn", "end_pos": 488, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn488", "evidence": [ { "id": "P13591", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P13591#ptm_processing" }, { "id": "9774483", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9774483" } ], "filter_code": "001000000000000000000.00010000000000.00.01101", "uniprot_canonical_ac": "P13591-2" } ], "mutagenesis": [ { "start_pos": 433, "end_pos": 433, "sequence_org": "N", "sequence_mut": "Q", "comment": "Loss of polysialic acid addition by ST8SIA4; when associated with Q-459 and Q-488. Loss of polysialic acid addition by ST8SIA2; when associated with Q-459 and Q-488. Significantly decreases polysialic acid addition by ST8SIA2; when associated with Q-488. Decreases polysialic acid addition by ST8SIA2; when associated with Q-459. Decreases polysialic acid addition by ST8SIA4; when associated with Q-459. Does not affect polysialic acid addition by ST8SIA2. Does not affect polysialic acid addition by ST8SIA4.", "evidence": [ { "database": "UniProtKB", "id": "P13591", "url": "https://www.uniprot.org/uniprotkb/P13591" }, { "database": "PubMed", "id": "9774483", "url": "https://pubmed.ncbi.nlm.nih.gov/9774483" } ], "uniprot_canonical_ac": "P13591-2" }, { "start_pos": 459, "end_pos": 459, "sequence_org": "N", "sequence_mut": "Q", "comment": "Loss of polysialic acid addition by ST8SIA4; when associated with Q-433 and Q-488. Loss of polysialic acid addition by ST8SIA2; when associated with Q-433 and Q-488. Loss of polysialic acid addition by ST8SIA4; when associated with Q-488. Loss of polysialic acid addition by ST8SIA2; when associated with Q-488. Decreases polysialic acid addition by ST8SIA2. Decreases polysialic acid addition by ST8SIA4.", "evidence": [ { "database": "UniProtKB", "id": "P13591", "url": "https://www.uniprot.org/uniprotkb/P13591" }, { "database": "PubMed", "id": "9774483", "url": "https://pubmed.ncbi.nlm.nih.gov/9774483" } ], "uniprot_canonical_ac": "P13591-2" }, { "start_pos": 488, "end_pos": 488, "sequence_org": "N", "sequence_mut": "Q", "comment": "Loss of polysialic acid addition by ST8SIA4; when associated with Q-433 and Q-459. Loss of polysialic acid addition by ST8SIA2; when associated with Q-433 and Q-459. Loss of polysialic acid addition by ST8SIA4; when associated with Q-459. Loss of polysialic acid addition by ST8SIA2; when associated with Q-459. Significantly decreases polysialic acid addition by ST8SIA2.", "evidence": [ { "database": "UniProtKB", "id": "P13591", "url": "https://www.uniprot.org/uniprotkb/P13591" }, { "database": "PubMed", "id": "9774483", "url": "https://pubmed.ncbi.nlm.nih.gov/9774483" } ], "uniprot_canonical_ac": "P13591-2" } ], "record_id": "pubmed.9774483", "abstract": "", "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": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_sites", "count": 2 }, { "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 }, { "field": "exact_sites", "count": 2 }, { "field": "exact_n_linked_sites", "count": 2 }, { "field": "fuzzy_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl", "filter_code", "uniprot_canonical_ac" ] }, { "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": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_sites", "count": 2 }, { "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 }, { "field": "exact_sites", "count": 2 }, { "field": "exact_n_linked_sites", "count": 2 }, { "field": "fuzzy_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl", "filter_code", "uniprot_canonical_ac" ] }, { "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 }, { 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"https://pubmed.ncbi.nlm.nih.gov/9852130" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q92186-1", "protein_name": "Alpha-2,8-sialyltransferase 8B", "gene_name": "ST8SIA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92187-1", "protein_name": "CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase", "gene_name": "ST8SIA4", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92186", "url": "https://www.uniprot.org/uniprotkb/Q92186" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9852130", "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": "Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.", "journal": "Am. J. Hum. Genet.", "date": "2006", "authors": "den Hollander Anneke I, Koenekoop Robert K, Yzer Suzanne, Lopez Irma, Arends Maarten L, Voesenek Krysta E J, Zonneveld Marijke N, Strom Tim M, Meitinger Thomas, Brunner Han G, Hoyng Carel B, van den Born L Ingeborgh, Rohrschneider Klaus, Cremers Frans P M", "reference": { "type": "PubMed", "id": "16909394", "url": "https://pubmed.ncbi.nlm.nih.gov/16909394" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15078-1", "protein_name": "Centrosomal protein of 290 kDa", "gene_name": "CEP290", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15078", "url": "https://www.uniprot.org/uniprotkb/O15078" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16909394", "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": "CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.", "journal": "Am. J. Hum. Genet.", "date": "2007", "authors": "Brancati Francesco, Barrano Giuseppe, Silhavy Jennifer L, Marsh Sarah E, Travaglini Lorena, Bielas Stephanie L, Amorini Maria, Zablocka Dominika, Kayserili Hulya, Al-Gazali Lihadh, Bertini Enrico, Boltshauser Eugen, D'Hooghe Marc, Fazzi Elisa, Fenerci Elif Y, Hennekam Raoul C M, Kiss Andrea, Lees Melissa M, Marco Elysa, Phadke Shubha R, Rigoli Luciana, Romano Stephane, Salpietro Carmelo D, Sherr Elliott H, Signorini Sabrina, Stromme Petter, Stuart Bernard, Sztriha Laszlo, Viskochil David H, Yuksel Adnan, Dallapiccola Bruno, , Valente Enza Maria, Gleeson Joseph G", "reference": { "type": "PubMed", "id": "17564967", "url": "https://pubmed.ncbi.nlm.nih.gov/17564967" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15078-1", "protein_name": "Centrosomal protein of 290 kDa", "gene_name": "CEP290", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15078", "url": "https://www.uniprot.org/uniprotkb/O15078" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.17564967", "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": "Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.", "journal": "Am. J. Hum. Genet.", "date": "2007", "authors": "Baala Lekbir, Audollent Sophie, Martinovic J\u00e9l\u00e9na, Ozilou Catherine, Babron Marie-Claude, Sivanandamoorthy Sivanthiny, Saunier Sophie, Salomon R\u00e9mi, Gonzales Marie, Rattenberry Eleanor, Esculpavit Chantal, Toutain Annick, Moraine Claude, Parent Philippe, Marcorelles Pascale, Dauge Marie-Christine, Roume Jo\u00eblle, Le Merrer Martine, Meiner Vardiella, Meir Karen, Menez Fran\u00e7oise, Beaufr\u00e8re Anne-Marie, Francannet Christine, Tantau Julia, Sinico Martine, Dumez Yves, MacDonald Fiona, Munnich Arnold, Lyonnet Stanislas, Gubler Marie-Claire, G\u00e9nin Emmanuelle, Johnson Colin A, Vekemans Michel, Encha-Razavi F\u00e9recht\u00e9, Atti\u00e9-Bitach Tania", "reference": { "type": "PubMed", "id": "17564974", "url": "https://pubmed.ncbi.nlm.nih.gov/17564974" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15078-1", "protein_name": "Centrosomal protein of 290 kDa", "gene_name": "CEP290", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15078", "url": "https://www.uniprot.org/uniprotkb/O15078" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.17564974", "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": "Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome.", "journal": "J. 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Genet.", "date": "2011", "authors": "Hopp K, Heyer CM, Hommerding CJ, Henke SA, Sundsbak JL, Patel S, Patel P, Consugar MB, Czarnecki PG, Gliem TJ, Torres VE, Rossetti S, Harris PC", "reference": { "type": "PubMed", "id": "21493627", "url": "https://pubmed.ncbi.nlm.nih.gov/21493627" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15078-1", "protein_name": "Centrosomal protein of 290 kDa", "gene_name": "CEP290", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UPM9-1", "protein_name": "B9 domain-containing protein 1", "gene_name": "B9D1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15078", "url": "https://www.uniprot.org/uniprotkb/O15078" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.21493627", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], 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Invest.", "date": "2013", "authors": "Drivas Theodore G, Holzbaur Erika L F, Bennett Jean", "reference": { "type": "PubMed", "id": "24051377", "url": "https://pubmed.ncbi.nlm.nih.gov/24051377" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15078-1", "protein_name": "Centrosomal protein of 290 kDa", "gene_name": "CEP290", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15078", "url": "https://www.uniprot.org/uniprotkb/O15078" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.24051377", "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": 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Involvement of small ArfGAP1 (SMAP1), a novel Arf6-specific GTPase-activating protein, in microsatellite instability oncogenesis.", "journal": "Oncogene", "date": "2014", "authors": "Sangar F, Schreurs AS, Umana-Diaz C, Claperon A, Desbois-Mouthon C, Calmel C, Mauger O, Zaanan A, Miquel C, Flejou JF, Praz F", "reference": { "type": "PubMed", "id": "23752192", "url": "https://pubmed.ncbi.nlm.nih.gov/23752192" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8IYB5-1", "protein_name": "Stromal membrane-associated protein 1", "gene_name": "SMAP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IYB5", "url": "https://www.uniprot.org/uniprotkb/Q8IYB5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens 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