[ { "title": "FXR regulates organic solute transporters alpha and beta in the adrenal gland, kidney, and intestine.", "journal": "J. Lipid Res.", "date": "2006", "authors": "Lee H, Zhang Y, Lee FY, Nelson SF, Gonzalez FJ, Edwards PA", "reference": { "type": "PubMed", "id": "16251721", "url": "https://pubmed.ncbi.nlm.nih.gov/16251721" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q86UW2-1", "protein_name": "Organic solute transporter subunit beta", "gene_name": "SLC51B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8R000-1", "protein_name": "Organic solute transporter subunit alpha", "gene_name": "Slc51a", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q86UW1-1", "protein_name": "Organic solute transporter subunit alpha", "gene_name": "SLC51A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q80WK2-1", "protein_name": "Organic solute transporter subunit beta", "gene_name": "Slc51b", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UW2", "url": "https://www.uniprot.org/uniprotkb/Q86UW2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16251721", "abstract": "", "glycosylation": [], "mutagenesis": [], "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": "The nuclear receptor for bile acids, FXR, transactivates human organic solute transporter-alpha and -beta genes.", "journal": "Am. J. Physiol.", "date": "2006", "authors": "Landrier JF, Eloranta JJ, Vavricka SR, Kullak-Ublick GA", "reference": { "type": "PubMed", "id": "16269519", "url": "https://pubmed.ncbi.nlm.nih.gov/16269519" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q86UW2-1", "protein_name": "Organic solute transporter subunit beta", "gene_name": "SLC51B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86UW1-1", "protein_name": "Organic solute transporter subunit alpha", "gene_name": "SLC51A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96RI1-3", "protein_name": "Bile acid receptor", "gene_name": "NR1H4", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UW2", "url": "https://www.uniprot.org/uniprotkb/Q86UW2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16269519", "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 organic solute transporters alpha and beta are induced by hypoxia in human hepatocytes.", "journal": "Liver international : official journal of the International Association for the Study of the Liver", "date": "2015", "authors": "Schaffner CA, Mwinyi J, Gai Z, Thasler WE, Eloranta JJ, Kullak-Ublick GA", "reference": { "type": "PubMed", "id": "24703425", "url": "https://pubmed.ncbi.nlm.nih.gov/24703425" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q86UW2-1", "protein_name": "Organic solute transporter subunit beta", "gene_name": "SLC51B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UW2", "url": "https://www.uniprot.org/uniprotkb/Q86UW2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.24703425", "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": "A Novel Di-Leucine Motif at the N-Terminus of Human Organic Solute Transporter Beta Is Essential for Protein Association and Membrane Localization.", "journal": "PloS one", "date": "2016", "authors": "Xu S, Soroka CJ, Sun AQ, Backos DS, Mennone A, Suchy FJ, Boyer JL", "reference": { "type": "PubMed", "id": "27351185", "url": "https://pubmed.ncbi.nlm.nih.gov/27351185" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q86UW2-1", "protein_name": "Organic solute transporter subunit beta", "gene_name": "SLC51B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UW2", "url": "https://www.uniprot.org/uniprotkb/Q86UW2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.27351185", "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": "Organic solute transporter-beta (SLC51B) deficiency in two brothers with congenital diarrhea and features of cholestasis.", "journal": "Hepatology", "date": "2018", "authors": "Sultan Mutaz, Rao Anuradha, Elpeleg Orly, Vaz Fr\u00e9d\u00e9ric M, Abu-Libdeh Bassam, Karpen Saul J, Dawson Paul A", "reference": { "type": "PubMed", "id": "28898457", "url": "https://pubmed.ncbi.nlm.nih.gov/28898457" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q86UW2-1", "protein_name": "Organic solute transporter subunit beta", "gene_name": "SLC51B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UW2", "url": "https://www.uniprot.org/uniprotkb/Q86UW2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.28898457", "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": "Epigenetic Mechanisms Underlying Organic Solute Transporter beta Repression in Colorectal Cancer.", "journal": "Molecular pharmacology", "date": "2020", "authors": "Zhou Y, Ye C, Lou Y, Liu J, Ye S, Chen L, Lei J, Guo S, Zeng S, Yu L", "reference": { "type": "PubMed", "id": "32005758", "url": "https://pubmed.ncbi.nlm.nih.gov/32005758" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q86UW2-1", "protein_name": "Organic solute transporter subunit beta", "gene_name": "SLC51B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UW2", "url": "https://www.uniprot.org/uniprotkb/Q86UW2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.32005758", "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": "HNF1A binds and regulates the expression of SLC51B to facilitate the uptake of estrone sulfate in human renal proximal tubule epithelial cells.", "journal": "Cell death & disease", "date": "2023-05-03", "authors": "Chan Jun Wei, Neo Claire Wen Ying, Ghosh Soumita, Choi Hyungwon, Lim Su Chi, Tai E Shyong, Teo Adrian Kee Keong", "reference": { "type": "PubMed", "id": "37137894", "url": "https://pubmed.ncbi.nlm.nih.gov/37137894" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q86UW2-1", "protein_name": "Organic solute transporter subunit beta", "gene_name": "SLC51B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UW2", "url": "https://www.uniprot.org/uniprotkb/Q86UW2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37137894", "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": "Structure and mechanism of the human bile acid transporter OST\u03b1-OST\u03b2.", "journal": "Nature", "date": "2026-01-28", "authors": "Wang Ke, Fan Junping, Chen Huiwen, Huang Bo, Chi Cheng, Yan Rui, Wu Di, Zhou Feng, Zhang Wenhua, Jiang Juquan, Lei Xiaoguang, Jiang Daohua", "reference": { "type": "PubMed", "id": "41606314", "url": "https://pubmed.ncbi.nlm.nih.gov/41606314" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q86UW2-1", "protein_name": "Organic solute transporter subunit beta", "gene_name": "SLC51B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86UW1-1", "protein_name": "Organic solute transporter subunit alpha", "gene_name": "SLC51A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UW2", "url": "https://www.uniprot.org/uniprotkb/Q86UW2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 36, "end_pos": 36, "sequence_org": "W", "sequence_mut": "A", "comment": "Decreased bile acid transport.", "evidence": [ { "database": "UniProtKB", "id": "Q86UW2", "url": "https://www.uniprot.org/uniprotkb/Q86UW2" }, { "database": "PubMed", "id": "41606314", "url": "https://pubmed.ncbi.nlm.nih.gov/41606314" } ], "uniprot_canonical_ac": "Q86UW2-1" }, { "start_pos": 128, "end_pos": 128, "sequence_org": "Y", "sequence_mut": "A", "comment": "Decreased bile acid transport.", "evidence": [ { "database": "UniProtKB", "id": "Q86UW1", "url": "https://www.uniprot.org/uniprotkb/Q86UW1" }, { "database": "PubMed", "id": "41606314", "url": "https://pubmed.ncbi.nlm.nih.gov/41606314" } ], "uniprot_canonical_ac": "Q86UW1-1" }, { "start_pos": 141, "end_pos": 141, "sequence_org": "K", "sequence_mut": "A", "comment": "Does not affect bile acid transport.", "evidence": [ { "database": "UniProtKB", "id": "Q86UW1", "url": "https://www.uniprot.org/uniprotkb/Q86UW1" }, { "database": "PubMed", "id": "41606314", "url": "https://pubmed.ncbi.nlm.nih.gov/41606314" } ], "uniprot_canonical_ac": "Q86UW1-1" }, { "start_pos": 160, "end_pos": 160, "sequence_org": "C", "sequence_mut": "A", "comment": "Decreased bile acid transport.", "evidence": [ { "database": "UniProtKB", "id": "Q86UW1", "url": "https://www.uniprot.org/uniprotkb/Q86UW1" }, { "database": "PubMed", "id": "41606314", "url": "https://pubmed.ncbi.nlm.nih.gov/41606314" } ], "uniprot_canonical_ac": "Q86UW1-1" }, { "start_pos": 161, "end_pos": 161, "sequence_org": "C", "sequence_mut": "A", "comment": "Decreased bile acid transport.", "evidence": [ { "database": "UniProtKB", "id": "Q86UW1", "url": "https://www.uniprot.org/uniprotkb/Q86UW1" }, { "database": "PubMed", "id": "41606328", "url": "https://pubmed.ncbi.nlm.nih.gov/41606328" }, { "database": "PubMed", "id": "41606314", "url": "https://pubmed.ncbi.nlm.nih.gov/41606314" } ], "uniprot_canonical_ac": "Q86UW1-1" }, { "start_pos": 162, "end_pos": 162, "sequence_org": "C", "sequence_mut": "A", "comment": "Strongly decreased bile acid transport.", "evidence": [ { "database": "UniProtKB", "id": "Q86UW1", "url": "https://www.uniprot.org/uniprotkb/Q86UW1" }, { "database": "PubMed", "id": "41606314", "url": "https://pubmed.ncbi.nlm.nih.gov/41606314" } ], "uniprot_canonical_ac": "Q86UW1-1" }, { "start_pos": 166, "end_pos": 166, "sequence_org": "C", "sequence_mut": "A", "comment": "Decreased bile acid transport.", "evidence": [ { "database": "UniProtKB", "id": "Q86UW1", "url": "https://www.uniprot.org/uniprotkb/Q86UW1" }, { "database": "PubMed", "id": "41606314", "url": "https://pubmed.ncbi.nlm.nih.gov/41606314" } ], "uniprot_canonical_ac": "Q86UW1-1" }, { "start_pos": 167, "end_pos": 167, "sequence_org": "C", "sequence_mut": "A", "comment": "Decreased bile acid transport.", "evidence": [ { "database": "UniProtKB", "id": "Q86UW1", "url": "https://www.uniprot.org/uniprotkb/Q86UW1" }, { "database": "PubMed", "id": "41606314", "url": "https://pubmed.ncbi.nlm.nih.gov/41606314" } ], "uniprot_canonical_ac": "Q86UW1-1" }, { "start_pos": 200, "end_pos": 200, "sequence_org": "F", "sequence_mut": "A", "comment": "Does not affect bile acid transport.", "evidence": [ { "database": "UniProtKB", "id": "Q86UW1", "url": "https://www.uniprot.org/uniprotkb/Q86UW1" }, { "database": "PubMed", "id": "41606314", "url": "https://pubmed.ncbi.nlm.nih.gov/41606314" } ], "uniprot_canonical_ac": "Q86UW1-1" }, { "start_pos": 204, "end_pos": 204, "sequence_org": "D", "sequence_mut": "A", "comment": "Decreased bile acid transport.", "evidence": [ { "database": "UniProtKB", "id": "Q86UW1", "url": "https://www.uniprot.org/uniprotkb/Q86UW1" }, { "database": "PubMed", "id": "41606314", "url": "https://pubmed.ncbi.nlm.nih.gov/41606314" } ], "uniprot_canonical_ac": "Q86UW1-1" }, { "start_pos": 284, "end_pos": 284, "sequence_org": "C", "sequence_mut": "A", "comment": "Strongly decreased bile acid transport.", "evidence": [ { "database": "UniProtKB", "id": "Q86UW1", "url": "https://www.uniprot.org/uniprotkb/Q86UW1" }, { "database": "PubMed", "id": "41606314", "url": "https://pubmed.ncbi.nlm.nih.gov/41606314" } ], "uniprot_canonical_ac": "Q86UW1-1" }, { "start_pos": 284, "end_pos": 284, "sequence_org": "C", "sequence_mut": "S", "comment": "Strongly decreased bile acid transport.", "evidence": [ { "database": "UniProtKB", "id": "Q86UW1", "url": "https://www.uniprot.org/uniprotkb/Q86UW1" }, { "database": "PubMed", "id": "41606314", "url": "https://pubmed.ncbi.nlm.nih.gov/41606314" } ], "uniprot_canonical_ac": "Q86UW1-1" }, { "start_pos": 32, "end_pos": 32, "sequence_org": "C", "sequence_mut": "A", "comment": "Strongly decreased bile acid transport.", "evidence": [ { "database": "UniProtKB", "id": "Q86UW1", "url": "https://www.uniprot.org/uniprotkb/Q86UW1" }, { "database": "PubMed", "id": "41606314", "url": "https://pubmed.ncbi.nlm.nih.gov/41606314" } ], "uniprot_canonical_ac": "Q86UW1-1" }, { "start_pos": 32, "end_pos": 32, "sequence_org": "C", "sequence_mut": "S", "comment": "Strongly decreased bile acid transport.", "evidence": [ { "database": "UniProtKB", "id": "Q86UW1", "url": "https://www.uniprot.org/uniprotkb/Q86UW1" }, { "database": "PubMed", "id": "41606314", "url": "https://pubmed.ncbi.nlm.nih.gov/41606314" } ], "uniprot_canonical_ac": "Q86UW1-1" }, { "start_pos": 86, "end_pos": 86, "sequence_org": "R", "sequence_mut": "A", "comment": "Does not affect bile acid transport.", "evidence": [ { "database": "UniProtKB", "id": "Q86UW1", "url": "https://www.uniprot.org/uniprotkb/Q86UW1" }, { "database": "PubMed", "id": "41606314", "url": "https://pubmed.ncbi.nlm.nih.gov/41606314" } ], "uniprot_canonical_ac": "Q86UW1-1" }, { "start_pos": 90, "end_pos": 90, "sequence_org": "W", "sequence_mut": "A", "comment": "Decreased bile acid transport.", "evidence": [ { "database": "UniProtKB", "id": "Q86UW1", "url": "https://www.uniprot.org/uniprotkb/Q86UW1" }, { "database": "PubMed", "id": "41606314", "url": "https://pubmed.ncbi.nlm.nih.gov/41606314" } ], "uniprot_canonical_ac": "Q86UW1-1" } ], "record_id": "pubmed.41606314", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Structures of Ost\u03b1/\u03b2 reveal a unique fold and bile acid transport mechanism.", "journal": "Nature", "date": "2026-01-28", "authors": "Yang Xuemei, Cui Nana, Li Tianyu, He Xinheng, Zhang Heng, Wu Canrong, Li Yang, Ma Xiong, Xu H Eric", "reference": { "type": "PubMed", "id": "41606328", "url": "https://pubmed.ncbi.nlm.nih.gov/41606328" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q86UW2-1", "protein_name": "Organic solute transporter subunit beta", "gene_name": "SLC51B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86UW1-1", "protein_name": "Organic solute transporter subunit alpha", "gene_name": "SLC51A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UW2", "url": "https://www.uniprot.org/uniprotkb/Q86UW2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "glycosylation": [ { "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=9UNV&bu=0&command=select+.C:25;+center+selection;+zoom+selection" }, "start_pos": 25, "start_aa": "Asn", "end_pos": 25, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn25", "evidence": [ { "id": "Q86UW1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q86UW1#ptm_processing" }, { "id": "41606328", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/41606328" }, { "id": "9UO2", "database": "PDB", "url": "https://www.rcsb.org/sequence/9UO2" }, { "id": "9UNV", "database": "PDB", "url": "https://www.rcsb.org/sequence/9UNV" } ], "filter_code": "001000000000000000000.00010000000000.00.01000", "uniprot_canonical_ac": "Q86UW1-1" } ], "mutagenesis": [ { "start_pos": 116, "end_pos": 116, "sequence_org": "E", "sequence_mut": "A", "comment": "Decreased bile acid transport.", "evidence": [ { "database": "UniProtKB", "id": "Q86UW1", "url": "https://www.uniprot.org/uniprotkb/Q86UW1" }, { "database": "PubMed", "id": "41606328", "url": "https://pubmed.ncbi.nlm.nih.gov/41606328" } ], "uniprot_canonical_ac": "Q86UW1-1" }, { "start_pos": 156, "end_pos": 156, "sequence_org": "H", "sequence_mut": "A", "comment": "Decreased bile acid transport.", "evidence": [ { "database": "UniProtKB", "id": "Q86UW1", "url": "https://www.uniprot.org/uniprotkb/Q86UW1" }, { "database": "PubMed", "id": "41606328", "url": "https://pubmed.ncbi.nlm.nih.gov/41606328" } ], "uniprot_canonical_ac": "Q86UW1-1" }, { "start_pos": 161, "end_pos": 161, "sequence_org": "C", "sequence_mut": "A", "comment": "Decreased bile acid transport.", "evidence": [ { "database": "UniProtKB", "id": "Q86UW1", "url": "https://www.uniprot.org/uniprotkb/Q86UW1" }, { "database": "PubMed", "id": "41606328", "url": "https://pubmed.ncbi.nlm.nih.gov/41606328" }, { "database": "PubMed", "id": "41606314", "url": "https://pubmed.ncbi.nlm.nih.gov/41606314" } ], "uniprot_canonical_ac": "Q86UW1-1" }, { "start_pos": 191, "end_pos": 191, "sequence_org": "K", "sequence_mut": "A", "comment": "Decreased bile acid transport.", "evidence": [ { "database": "UniProtKB", "id": "Q86UW1", "url": "https://www.uniprot.org/uniprotkb/Q86UW1" }, { "database": "PubMed", "id": "41606328", "url": "https://pubmed.ncbi.nlm.nih.gov/41606328" } ], "uniprot_canonical_ac": "Q86UW1-1" }, { "start_pos": 222, "end_pos": 222, "sequence_org": "N", "sequence_mut": "A", "comment": "Decreased bile acid transport.", "evidence": [ { "database": "UniProtKB", "id": "Q86UW1", "url": "https://www.uniprot.org/uniprotkb/Q86UW1" }, { "database": "PubMed", "id": "41606328", "url": "https://pubmed.ncbi.nlm.nih.gov/41606328" } ], "uniprot_canonical_ac": "Q86UW1-1" }, { "start_pos": 234, "end_pos": 234, "sequence_org": "W", "sequence_mut": "A", "comment": "Decreased bile acid transport.", "evidence": [ { "database": "UniProtKB", "id": "Q86UW1", "url": "https://www.uniprot.org/uniprotkb/Q86UW1" }, { "database": "PubMed", "id": "41606328", "url": "https://pubmed.ncbi.nlm.nih.gov/41606328" } ], "uniprot_canonical_ac": "Q86UW1-1" }, { "start_pos": 234, "end_pos": 234, "sequence_org": "W", "sequence_mut": "I", "comment": "Decreased bile acid transport.", "evidence": [ { "database": "UniProtKB", "id": "Q86UW1", "url": "https://www.uniprot.org/uniprotkb/Q86UW1" }, { "database": "PubMed", "id": "41606328", "url": "https://pubmed.ncbi.nlm.nih.gov/41606328" } ], "uniprot_canonical_ac": "Q86UW1-1" }, { "start_pos": 241, "end_pos": 241, "sequence_org": "R", "sequence_mut": "A", "comment": "Decreased bile acid transport.", "evidence": [ { "database": "UniProtKB", "id": "Q86UW1", "url": "https://www.uniprot.org/uniprotkb/Q86UW1" }, { "database": "PubMed", "id": "41606328", "url": "https://pubmed.ncbi.nlm.nih.gov/41606328" } ], "uniprot_canonical_ac": "Q86UW1-1" }, { "start_pos": 244, "end_pos": 244, "sequence_org": "R", "sequence_mut": "A", "comment": "Decreased bile acid transport.", "evidence": [ { "database": "UniProtKB", "id": "Q86UW1", "url": "https://www.uniprot.org/uniprotkb/Q86UW1" }, { "database": "PubMed", "id": "41606328", "url": "https://pubmed.ncbi.nlm.nih.gov/41606328" } ], "uniprot_canonical_ac": "Q86UW1-1" }, { "start_pos": 260, "end_pos": 260, "sequence_org": "Q", "sequence_mut": "A", "comment": "Decreased bile acid transport.", "evidence": [ { "database": "UniProtKB", "id": "Q86UW1", "url": "https://www.uniprot.org/uniprotkb/Q86UW1" }, { "database": "PubMed", "id": "41606328", "url": "https://pubmed.ncbi.nlm.nih.gov/41606328" } ], "uniprot_canonical_ac": "Q86UW1-1" }, { "start_pos": 274, "end_pos": 274, "sequence_org": "S", "sequence_mut": "A", "comment": "Decreased bile acid transport.", "evidence": [ { "database": "UniProtKB", "id": "Q86UW1", "url": "https://www.uniprot.org/uniprotkb/Q86UW1" }, { "database": "PubMed", "id": "41606328", "url": "https://pubmed.ncbi.nlm.nih.gov/41606328" } ], "uniprot_canonical_ac": "Q86UW1-1" }, { "start_pos": 291, "end_pos": 291, "sequence_org": "K", "sequence_mut": "A", "comment": "Decreased bile acid transport.", "evidence": [ { "database": "UniProtKB", "id": "Q86UW1", "url": "https://www.uniprot.org/uniprotkb/Q86UW1" }, { "database": "PubMed", "id": "41606328", "url": "https://pubmed.ncbi.nlm.nih.gov/41606328" } ], "uniprot_canonical_ac": "Q86UW1-1" } ], "record_id": "pubmed.41606328", "abstract": "", "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": 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", "icn3d_view.label", "icn3d_view.url", "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": 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", "icn3d_view.label", "icn3d_view.url", "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 }, { "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": "Olfactory receptor and neural pathway responsible for highly selective sensing of musk odors.", "journal": "Neuron", "date": "2014", "authors": "Shirasu M, Yoshikawa K, Takai Y, Nakashima A, Takeuchi H, Sakano H, Touhara K", "reference": { "type": "PubMed", "id": "24361078", "url": "https://pubmed.ncbi.nlm.nih.gov/24361078" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NGI8-1", "protein_name": "Olfactory receptor 5AN1", "gene_name": "OR5AN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8VFV4-1", "protein_name": "Olfactory receptor 5AN6", "gene_name": "Or5an6", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NGI8", "url": "https://www.uniprot.org/uniprotkb/Q8NGI8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.24361078", "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": "In vivo identification of eugenol-responsive and muscone-responsive mouse odorant receptors.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2014", "authors": "McClintock TS, Adipietro K, Titlow WB, Breheny P, Walz A, Mombaerts P, Matsunami H", "reference": { "type": "PubMed", "id": "25411495", "url": "https://pubmed.ncbi.nlm.nih.gov/25411495" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NGI8-1", "protein_name": "Olfactory receptor 5AN1", "gene_name": "OR5AN1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NGI8", "url": "https://www.uniprot.org/uniprotkb/Q8NGI8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.25411495", "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": "Ligand Specificity and Evolution of Mammalian Musk Odor Receptors: Effect of Single Receptor Deletion on Odor Detection.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2016", "authors": "Sato-Akuhara N, Horio N, Kato-Namba A, Yoshikawa K, Niimura Y, Ihara S, Shirasu M, Touhara K", "reference": { "type": "PubMed", "id": "27098692", "url": "https://pubmed.ncbi.nlm.nih.gov/27098692" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NGI8-1", "protein_name": "Olfactory receptor 5AN1", "gene_name": "OR5AN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8VFV4-1", "protein_name": "Olfactory receptor 5AN6", "gene_name": "Or5an6", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NGI8", "url": "https://www.uniprot.org/uniprotkb/Q8NGI8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.27098692", "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": "Molecular mechanism of activation of human musk receptors OR5AN1 and OR1A1 by (R)-muscone and diverse other musk-smelling compounds.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Ahmed L, Zhang Y, Block E, Buehl M, Corr MJ, Cormanich RA, Gundala S, Matsunami H, O'Hagan D, Ozbil M, Pan Y, Sekharan S, Ten N, Wang M, Yang M, Zhang Q, Zhang R, Batista VS, Zhuang H", "reference": { "type": "PubMed", "id": "29632183", "url": "https://pubmed.ncbi.nlm.nih.gov/29632183" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NGI8-1", "protein_name": "Olfactory receptor 5AN1", "gene_name": "OR5AN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P1Q5-1", "protein_name": "Olfactory receptor 1A1", "gene_name": "OR1A1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NGI8", "url": "https://www.uniprot.org/uniprotkb/Q8NGI8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.29632183", "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": "Steric and energetic characterizations of mouse and human musk receptors activated by nitro musk smelling compounds at molecular level: Statistical physics treatment and molecular docking analysis.", "journal": "International journal of biological macromolecules", "date": "2021", "authors": "Ben Khemis I, Sagaama A, Issaoui N, Ben Lamine A", "reference": { "type": "PubMed", "id": "34389381", "url": "https://pubmed.ncbi.nlm.nih.gov/34389381" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NGI8-1", "protein_name": "Olfactory receptor 5AN1", "gene_name": "OR5AN1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NGI8", "url": "https://www.uniprot.org/uniprotkb/Q8NGI8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.34389381", "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": "Genetic variation in the human olfactory receptor OR5AN1 associates with the perception of musks.", "journal": "Chemical senses", "date": "2023-01-01", "authors": "Sato-Akuhara Narumi, Trimmer Casey, Keller Andreas, Niimura Yoshihito, Shirasu Mika, Mainland Joel D, Touhara Kazushige", "reference": { "type": "PubMed", "id": "36625229", "url": "https://pubmed.ncbi.nlm.nih.gov/36625229" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NGI8-1", "protein_name": "Olfactory receptor 5AN1", "gene_name": "OR5AN1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NGI8", "url": "https://www.uniprot.org/uniprotkb/Q8NGI8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.36625229", "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": "The Olfactory Receptor Gene Product, OR5H2, Modulates Endometrial Cancer Cells Proliferation via Interaction with the IGF1 Signaling Pathway.", "journal": "Cells", "date": "2021", "authors": "Shibel R, Sarfstein R, Nagaraj K, Lapkina-Gendler L, Laron Z, Dixit M, Yakar S, Werner H", "reference": { "type": "PubMed", "id": "34204736", "url": "https://pubmed.ncbi.nlm.nih.gov/34204736" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NGV7-1", "protein_name": "Olfactory receptor 5H2", "gene_name": "OR5H2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NGV7", "url": "https://www.uniprot.org/uniprotkb/Q8NGV7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.34204736", "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": "Identification of four gene variants associated with myocardial infarction.", "journal": "American journal of human genetics", "date": "2005", "authors": "Shiffman D, Ellis SG, Rowland CM, Malloy MJ, Luke MM, Iakoubova OA, Pullinger CR, Cassano J, Aouizerat BE, Fenwick RG, Reitz RE, Catanese JJ, Leong DU, Zellner C, Sninsky JJ, Topol EJ, Devlin JJ, Kane JP", "reference": { "type": "PubMed", "id": "16175505", "url": "https://pubmed.ncbi.nlm.nih.gov/16175505" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NGZ3-1", "protein_name": "Olfactory receptor 13G1", "gene_name": "OR13G1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WX93-1", "protein_name": "Palladin", "gene_name": "PALLD", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NGZ3", "url": "https://www.uniprot.org/uniprotkb/Q8NGZ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16175505", "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": "Replication study of 10 genetic polymorphisms associated with coronary heart disease in a specific high-risk population with familial hypercholesterolemia.", "journal": "European heart journal", "date": "2008", "authors": "van der Net JB, Oosterveer DM, Versmissen J, Defesche JC, Yazdanpanah M, Aouizerat BE, Steyerberg EW, Malloy MJ, Pullinger CR, Kastelein JJ, Kane JP, Sijbrands EJ", "reference": { "type": "PubMed", "id": "18599554", "url": "https://pubmed.ncbi.nlm.nih.gov/18599554" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NGZ3-1", "protein_name": "Olfactory receptor 13G1", "gene_name": "OR13G1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NGZ3", "url": "https://www.uniprot.org/uniprotkb/Q8NGZ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.18599554", "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": "Association of a polymorphism of the apolipoprotein E gene with chronic kidney disease in Japanese individuals with metabolic syndrome.", "journal": "Genomics", "date": "2009", "authors": "Yoshida T, Kato K, Fujimaki T, Yokoi K, Oguri M, Watanabe S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nishigaki Y, Tanaka M, Nozawa Y, Yamada Y", "reference": { "type": "PubMed", "id": "19056482", "url": "https://pubmed.ncbi.nlm.nih.gov/19056482" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NGZ3-1", "protein_name": "Olfactory receptor 13G1", "gene_name": "OR13G1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NGZ3", "url": "https://www.uniprot.org/uniprotkb/Q8NGZ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.19056482", "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": "Usefulness of genetic polymorphisms and conventional risk factors to predict coronary heart disease in patients with familial hypercholesterolemia.", "journal": "The American journal of cardiology", "date": "2009", "authors": "van der Net JB, Janssens AC, Defesche JC, Kastelein JJ, Sijbrands EJ, Steyerberg EW", "reference": { "type": "PubMed", "id": "19166692", "url": "https://pubmed.ncbi.nlm.nih.gov/19166692" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NGZ3-1", "protein_name": "Olfactory receptor 13G1", "gene_name": "OR13G1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NGZ3", "url": "https://www.uniprot.org/uniprotkb/Q8NGZ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.19166692", "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": "Variations of specific non-candidate genes and risk of myocardial infarction: a replication study.", "journal": "International journal of cardiology", "date": "2011", "authors": "Koch W, Hoppmann P, Schomig A, Kastrati A", "reference": { "type": "PubMed", "id": "19709766", "url": "https://pubmed.ncbi.nlm.nih.gov/19709766" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NGZ3-1", "protein_name": "Olfactory receptor 13G1", "gene_name": "OR13G1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NGZ3", "url": "https://www.uniprot.org/uniprotkb/Q8NGZ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.19709766", "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": "Sequence, structure, and evolution of a complete human olfactory receptor gene cluster.", "journal": "Genomics", "date": "2000", "authors": "Glusman G, Sosinsky A, Ben-Asher E, Avidan N, Sonkin D, Bahar A, Rosenthal A, Clifton S, Roe B, Ferraz C, Demaille J, Lancet D", "reference": { "type": "PubMed", "id": "10673334", "url": "https://pubmed.ncbi.nlm.nih.gov/10673334" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NH06-1", "protein_name": "Olfactory receptor 1P1", "gene_name": "OR1P1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P1Q5-1", "protein_name": "Olfactory receptor 1A1", "gene_name": "OR1A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P47884-1", "protein_name": "Olfactory receptor 1D4", "gene_name": "OR1D4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P47890-1", "protein_name": "Olfactory receptor 1G1", "gene_name": "OR1G1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P47893-1", "protein_name": "Olfactory receptor 3A2", "gene_name": "OR3A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P30953-1", "protein_name": "Olfactory receptor 1E1", "gene_name": "OR1E1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P34982-1", "protein_name": "Olfactory receptor 1D2", "gene_name": "OR1D2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P47881-1", "protein_name": "Olfactory receptor 3A1", "gene_name": "OR3A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P47887-1", "protein_name": "Olfactory receptor 1E2", "gene_name": "OR1E2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P58170-1", "protein_name": "Olfactory receptor 1D5", "gene_name": "OR1D5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WZA6-1", "protein_name": "Olfactory receptor 1E3", "gene_name": "OR1E3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y585-1", "protein_name": "Olfactory receptor 1A2", "gene_name": "OR1A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P47888-1", "protein_name": "Olfactory receptor 3A3", "gene_name": "OR3A3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NH06", "url": "https://www.uniprot.org/uniprotkb/Q8NH06" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10673334", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 13 } ], "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": "Down regulation of otospiralin, a novel inner ear protein, causes hair cell degeneration and deafness.", "journal": "J. Neurosci.", "date": "2002", "authors": "Delprat B, Boulanger A, Wang J, Beaudoin V, Guitton MJ, Venteo S, Dechesne CJ, Pujol R, Lavigne-Rebillard M, Puel JL, Hamel CP", "reference": { "type": "PubMed", "id": "11880501", "url": "https://pubmed.ncbi.nlm.nih.gov/11880501" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NHW6-1", "protein_name": "Otospiralin", "gene_name": "OTOS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8R448-1", "protein_name": "Otospiralin", "gene_name": "Otos", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q8K560-1", "protein_name": "Otospiralin", "gene_name": "Otos", "tax_name": "Rat" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHW6", "url": "https://www.uniprot.org/uniprotkb/Q8NHW6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11880501", "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": "Gene structure, chromosomal localization, and mutation screening of the human gene for the inner ear protein otospiralin.", "journal": "Neurogenetics", "date": "2003", "authors": "Lavigne-Rebillard M, Delprat B, Surget MO, Griffoin JM, Weil D, Arbones M, Vincent R, Hamel CP", "reference": { "type": "PubMed", "id": "12687421", "url": "https://pubmed.ncbi.nlm.nih.gov/12687421" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NHW6-1", "protein_name": "Otospiralin", "gene_name": "OTOS", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHW6", "url": "https://www.uniprot.org/uniprotkb/Q8NHW6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12687421", "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": "Genetic variation in Otos is associated with cisplatin-induced ototoxicity.", "journal": "Pharmacogenomics", "date": "2014", "authors": "Spracklen TF, Whitehorn H, Vorster AA, Ramma L, Dalvie S, Ramesar RS", "reference": { "type": "PubMed", "id": "25410892", "url": "https://pubmed.ncbi.nlm.nih.gov/25410892" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NHW6-1", "protein_name": "Otospiralin", "gene_name": "OTOS", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHW6", "url": "https://www.uniprot.org/uniprotkb/Q8NHW6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.25410892", "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": "Xenopus U8 snoRNA binding protein is a conserved nuclear decapping enzyme.", "journal": "Molecular cell", "date": "2004", "authors": "Ghosh T, Peterson B, Tomasevic N, Peculis BA", "reference": { "type": "PubMed", "id": "15053875", "url": "https://pubmed.ncbi.nlm.nih.gov/15053875" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96DE0-1", "protein_name": "U8 snoRNA-decapping enzyme", "gene_name": "NUDT16", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96DE0", "url": "https://www.uniprot.org/uniprotkb/Q96DE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15053875", "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": "Crystallization and crystallographic analysis of human NUDT16.", "journal": "Acta Crystallogr. F", "date": "2008", "authors": "Zhang J, Gao F, Zhang Q, Chen Q, Qi J, Yan J", "reference": { "type": "PubMed", "id": "18607096", "url": "https://pubmed.ncbi.nlm.nih.gov/18607096" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96DE0-1", "protein_name": "U8 snoRNA-decapping enzyme", "gene_name": "NUDT16", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96DE0", "url": "https://www.uniprot.org/uniprotkb/Q96DE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.18607096", "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": "Evolutionary conservation supports ancient origin for Nudt16, a nuclear-localized, RNA-binding, RNA-decapping enzyme.", "journal": "Nucleic acids research", "date": "2008", "authors": "Taylor MJ, Peculis BA", "reference": { "type": "PubMed", "id": "18820299", "url": "https://pubmed.ncbi.nlm.nih.gov/18820299" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96DE0-1", "protein_name": "U8 snoRNA-decapping enzyme", "gene_name": "NUDT16", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BRJ7-1", "protein_name": "Tudor-interacting repair regulator protein", "gene_name": "NUDT16L1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96DE0", "url": "https://www.uniprot.org/uniprotkb/Q96DE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.18820299", "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 mRNA decapping enzymes in mammalian cells.", "journal": "Molecular cell", "date": "2010", "authors": "Song MG, Li Y, Kiledjian M", "reference": { "type": "PubMed", "id": "21070968", "url": "https://pubmed.ncbi.nlm.nih.gov/21070968" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96DE0-1", "protein_name": "U8 snoRNA-decapping enzyme", "gene_name": "NUDT16", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9CYC6-1", "protein_name": "m7GpppN-mRNA hydrolase", "gene_name": "Dcp2", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q8IU60-1", "protein_name": "m7GpppN-mRNA hydrolase", "gene_name": "DCP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9JKX6-1", "protein_name": "ADP-sugar pyrophosphatase", "gene_name": "Nudt5", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q99P30-1", "protein_name": "Peroxisomal coenzyme A diphosphatase NUDT7", "gene_name": "Nudt7", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q8R2U6-1", "protein_name": "Diphosphoinositol polyphosphate phosphohydrolase 2", "gene_name": "Nudt4", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q9BRJ7-1", "protein_name": "Tudor-interacting repair regulator protein", "gene_name": "NUDT16L1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6P3D0-1", "protein_name": "U8 snoRNA-decapping enzyme", "gene_name": "Nudt16", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96DE0", "url": "https://www.uniprot.org/uniprotkb/Q96DE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.21070968", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 8 } ], "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": "hNUDT16: a universal decapping enzyme for small nucleolar RNA and cytoplasmic mRNA.", "journal": "Protein & cell", "date": "2011-01", "authors": "Lu Guangwen, Zhang Jie, Li Yan, Li Zhixin, Zhang Na, Xu Xiang, Wang Tingting, Guan Zhenhong, Gao George F, Yan Jinghua", "reference": { "type": "PubMed", "id": "21337011", "url": "https://pubmed.ncbi.nlm.nih.gov/21337011" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96DE0-1", "protein_name": "U8 snoRNA-decapping enzyme", "gene_name": "NUDT16", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96DE0", "url": "https://www.uniprot.org/uniprotkb/Q96DE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.21337011", "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": "Structural Basis for the Specificity of Human NUDT16 and Its Regulation by Inosine Monophosphate.", "journal": "PloS one", "date": "2015", "authors": "Tresaugues L, Lundback T, Welin M, Flodin S, Nyman T, Silvander C, Graslund S, Nordlund P", "reference": { "type": "PubMed", "id": "26121039", "url": "https://pubmed.ncbi.nlm.nih.gov/26121039" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96DE0-1", "protein_name": "U8 snoRNA-decapping enzyme", "gene_name": "NUDT16", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96DE0", "url": "https://www.uniprot.org/uniprotkb/Q96DE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.26121039", "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": "Nudix Hydrolase NUDT16 Regulates 53BP1 Protein by Reversing 53BP1 ADP-Ribosylation.", "journal": "Cancer research", "date": "2020", "authors": "Zhang F, Lou L, Peng B, Song X, Reizes O, Almasan A, Gong Z", "reference": { "type": "PubMed", "id": "31911551", "url": "https://pubmed.ncbi.nlm.nih.gov/31911551" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96DE0-1", "protein_name": "U8 snoRNA-decapping enzyme", "gene_name": "NUDT16", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96DE0", "url": "https://www.uniprot.org/uniprotkb/Q96DE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.31911551", "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": "Mammalian Nudix proteins cleave nucleotide metabolite caps on RNAs.", "journal": "Nucleic acids research", "date": "2020", "authors": "Sharma S, Grudzien-Nogalska E, Hamilton K, Jiao X, Yang J, Tong L, Kiledjian M", "reference": { "type": "PubMed", "id": "32432673", "url": "https://pubmed.ncbi.nlm.nih.gov/32432673" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96DE0-1", "protein_name": "U8 snoRNA-decapping enzyme", "gene_name": "NUDT16", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9DCN1-1", "protein_name": "NAD-capped RNA hydrolase NUDT12", "gene_name": "Nudt12", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q8BG93-1", "protein_name": "Nucleotide triphosphate diphosphatase NUDT15", "gene_name": "Nudt15", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "P56380-1", "protein_name": "Bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]", "gene_name": "Nudt2", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q99P30-1", "protein_name": "Peroxisomal coenzyme A diphosphatase NUDT7", "gene_name": "Nudt7", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q9CR24-1", "protein_name": "Mitochondrial coenzyme A diphosphatase NUDT8", "gene_name": "Nudt8", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "P11930-1", "protein_name": "Acyl-coenzyme A diphosphatase NUDT19", "gene_name": "Nudt19", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "O70348-1", "protein_name": "Decapping and exoribonuclease protein", "gene_name": "Dxo", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q6P3D0-1", "protein_name": "U8 snoRNA-decapping enzyme", "gene_name": "Nudt16", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96DE0", "url": "https://www.uniprot.org/uniprotkb/Q96DE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.32432673", "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": "CAG RNAs induce DNA damage and apoptosis by silencing NUDT16 expression in polyglutamine degeneration.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2021", "authors": "Peng S, Guo P, Lin X, An Y, Sze KH, Lau MHY, Chen ZS, Wang Q, Li W, Sun JK, Ma SY, Chan TF, Lau KF, Ngo JCK, Kwan KM, Wong CH, Lam SL, Zimmerman SC, Tuccinardi T, Zuo Z, Au-Yeung HY, Chow HM, Chan HYE", "reference": { "type": "PubMed", "id": "33947817", "url": "https://pubmed.ncbi.nlm.nih.gov/33947817" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96DE0-1", "protein_name": "U8 snoRNA-decapping enzyme", "gene_name": "NUDT16", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96DE0", "url": "https://www.uniprot.org/uniprotkb/Q96DE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.33947817", "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": "Transcriptomic profile investigations highlight a putative role for NUDT16 in sepsis.", "journal": "Journal of cellular and molecular medicine", "date": "2022", "authors": "Huang SSY, Rinchai D, Toufiq M, Kabeer BSA, Roelands J, Hendrickx W, Boughorbel S, Bedognetti D, Van Panhuys N, Chaussabel D, Garand M", "reference": { "type": "PubMed", "id": "35174610", "url": "https://pubmed.ncbi.nlm.nih.gov/35174610" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96DE0-1", "protein_name": "U8 snoRNA-decapping enzyme", "gene_name": "NUDT16", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96DE0", "url": "https://www.uniprot.org/uniprotkb/Q96DE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.35174610", "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": "NUDT16 regulates CtIP PARylation to dictate homologous recombination repair.", "journal": "Nucleic acids research", "date": "2024-04-24", "authors": "Zhang Zhen, Samsa William E, Gong Zihua", "reference": { "type": "PubMed", "id": "38324469", "url": "https://pubmed.ncbi.nlm.nih.gov/38324469" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96DE0-1", "protein_name": "U8 snoRNA-decapping enzyme", "gene_name": "NUDT16", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99708-1", "protein_name": "DNA endonuclease RBBP8", "gene_name": "RBBP8", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96DE0", "url": "https://www.uniprot.org/uniprotkb/Q96DE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38324469", "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": "Osteoclast stimulatory transmembrane protein induces a phenotypic switch in macrophage polarization suppressing an M1 pro-inflammatory state.", "journal": "Acta biochimica et biophysica Sinica", "date": "2017", "authors": "Yuan H, He J, Zhang G, Zhang D, Kong X, Chen F", "reference": { "type": "PubMed", "id": "28981605", "url": "https://pubmed.ncbi.nlm.nih.gov/28981605" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BR26-1", "protein_name": "Osteoclast stimulatory transmembrane protein", "gene_name": "OCSTAMP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9D611-1", "protein_name": "Osteoclast stimulatory transmembrane protein", "gene_name": "Ocstamp", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BR26", "url": "https://www.uniprot.org/uniprotkb/Q9BR26" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.28981605", "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": "Osteoclast stimulatory transmembrane protein (OC-STAMP) is a promising molecular prognostic indicator for multiple myeloma.", "journal": "European journal of haematology", "date": "2020", "authors": "Wang ZL, Liu Y, Zhou YL, Li JL, Sun QY, Wu LX, Wen L, Lai YY, Liu YR, Chang YJ, Shi HX, Liu KY, Huang XJ, Lu J, Ruan GR", "reference": { "type": "PubMed", "id": "32282962", "url": "https://pubmed.ncbi.nlm.nih.gov/32282962" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BR26-1", "protein_name": "Osteoclast stimulatory transmembrane protein", "gene_name": "OCSTAMP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BR26", "url": "https://www.uniprot.org/uniprotkb/Q9BR26" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.32282962", "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": "New GPCRs from a human lingual cDNA library.", "journal": "Chem. Senses", "date": "2001", "authors": "Gaudin J C, Breuils L, Haertl\u00e9 T", "reference": { "type": "PubMed", "id": "11705801", "url": "https://pubmed.ncbi.nlm.nih.gov/11705801" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H209-1", "protein_name": "Olfactory receptor 10A4", "gene_name": "OR10A4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q15620-1", "protein_name": "Olfactory receptor 8B8", "gene_name": "OR8B8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GZM6-1", "protein_name": "Olfactory receptor 8D2", "gene_name": "OR8D2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WZ94-1", "protein_name": "Olfactory receptor 5P3", "gene_name": "OR5P3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H207-1", "protein_name": "Olfactory receptor 10A5", "gene_name": "OR10A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WZ92-1", "protein_name": "Olfactory receptor 5P2", "gene_name": "OR5P2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WZ84-1", "protein_name": "Olfactory receptor 8D1", "gene_name": "OR8D1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H209", "url": "https://www.uniprot.org/uniprotkb/Q9H209" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11705801", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 7 } ], "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": "Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.", "journal": "Am. J. Hum. Genet.", "date": "2001", "authors": "Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O", "reference": { "type": "PubMed", "id": "11668429", "url": "https://pubmed.ncbi.nlm.nih.gov/11668429" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H6K4-1", "protein_name": "Optic atrophy 3 protein", "gene_name": "OPA3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6K4", "url": "https://www.uniprot.org/uniprotkb/Q9H6K4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11668429", "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": "OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.", "journal": "Journal of medical genetics", "date": "2004", "authors": "Reynier P, Amati-Bonneau P, Verny C, Olichon A, Simard G, Guichet A, Bonnemains C, Malecaze F, Malinge MC, Pelletier JB, Calvas P, Dollfus H, Belenguer P, Malthiery Y, Lenaers G, Bonneau D", "reference": { "type": "PubMed", "id": "15342707", "url": "https://pubmed.ncbi.nlm.nih.gov/15342707" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H6K4-1", "protein_name": "Optic atrophy 3 protein", "gene_name": "OPA3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6K4", "url": "https://www.uniprot.org/uniprotkb/Q9H6K4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15342707", "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 screening of mitochondrial DNA as well as OPA1 and OPA3 in a Chinese cohort with suspected hereditary optic atrophy.", "journal": "Investigative ophthalmology & visual science", "date": "2014", "authors": "Chen J, Xu K, Zhang X, Jiang F, Liu L, Dong B, Ren Y, Li Y", "reference": { "type": "PubMed", "id": "25205859", "url": "https://pubmed.ncbi.nlm.nih.gov/25205859" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H6K4-1", "protein_name": "Optic atrophy 3 protein", "gene_name": "OPA3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6K4", "url": "https://www.uniprot.org/uniprotkb/Q9H6K4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.25205859", "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": "Putative biomarkers of malignant transformation of sinonasal inverted papilloma into squamous cell carcinoma.", "journal": "The Journal of international medical research", "date": "2019", "authors": "Yang Z, Zhang Y, Wang X, Huang J, Guo W, Wei P, Li G, Wang Z, Huang Z, Zhang L", "reference": { "type": "PubMed", "id": "30991875", "url": "https://pubmed.ncbi.nlm.nih.gov/30991875" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H6K4-1", "protein_name": "Optic atrophy 3 protein", "gene_name": "OPA3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6K4", "url": "https://www.uniprot.org/uniprotkb/Q9H6K4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.30991875", "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": "Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy.", "journal": "Ophthalmic genetics", "date": "2019", "authors": "Gaier ED, Sahai I, Wiggs JL, McGeeney B, Hoffman J, Peeler CE", "reference": { "type": "PubMed", "id": "31928268", "url": "https://pubmed.ncbi.nlm.nih.gov/31928268" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H6K4-1", "protein_name": "Optic atrophy 3 protein", "gene_name": "OPA3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6K4", "url": "https://www.uniprot.org/uniprotkb/Q9H6K4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.31928268", "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": "Addition of human melanopsin renders mammalian cells photoresponsive.", "journal": "Nature", "date": "2005-02-17", "authors": "Melyan Z, Tarttelin E E, Bellingham J, Lucas R J, Hankins M W", "reference": { "type": "PubMed", "id": "15674244", "url": "https://pubmed.ncbi.nlm.nih.gov/15674244" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UHM6-1", "protein_name": "Melanopsin", "gene_name": "OPN4", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UHM6", "url": "https://www.uniprot.org/uniprotkb/Q9UHM6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15674244", "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": "Divergent G-protein selectivity across melanopsins from mice and humans.", "journal": "Journal of cell science", "date": "2022-03-15", "authors": "McDowell Richard J, Rodgers Jessica, Milosavljevic Nina, Lucas Robert J", "reference": { "type": "PubMed", "id": "35274137", "url": "https://pubmed.ncbi.nlm.nih.gov/35274137" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UHM6-1", "protein_name": "Melanopsin", "gene_name": "OPN4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9QXZ9-1", "protein_name": "Melanopsin", "gene_name": "Opn4", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UHM6", "url": "https://www.uniprot.org/uniprotkb/Q9UHM6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.35274137", "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": "Melanopsin (Opn4) is an oncogene in cutaneous melanoma.", "journal": "Communications biology", "date": "2022", "authors": "de Assis LVM, Lacerda JT, Moraes MN, Dominguez-Amorocho OA, Kinker GS, Mendes D, Silva MM, Menck CFM, Camara NOS, Castrucci AML", "reference": { "type": "PubMed", "id": "35562405", "url": "https://pubmed.ncbi.nlm.nih.gov/35562405" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UHM6-1", "protein_name": "Melanopsin", "gene_name": "OPN4", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UHM6", "url": "https://www.uniprot.org/uniprotkb/Q9UHM6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.35562405", "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": "The melanopsin-mediated pupil response is reduced in idiopathic hypersomnia with long sleep time.", "journal": "Scientific reports", "date": "2022", "authors": "Rach H, Kilic-Huck U, Reynaud E, Hugueny L, Peiffer E, Roy de Belleplaine V, Fuchs F, Bourgin P, Geoffroy PA", "reference": { "type": "PubMed", "id": "35637236", "url": "https://pubmed.ncbi.nlm.nih.gov/35637236" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UHM6-1", "protein_name": "Melanopsin", "gene_name": "OPN4", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UHM6", "url": "https://www.uniprot.org/uniprotkb/Q9UHM6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.35637236", "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": "Melanopsin-mediated amplification of cone signals in the human visual cortex.", "journal": "Proceedings. Biological sciences", "date": "2024-05", "authors": "Adhikari Prakash, Uprety Samir, Feigl Beatrix, Zele Andrew J", "reference": { "type": "PubMed", "id": "38808443", "url": "https://pubmed.ncbi.nlm.nih.gov/38808443" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UHM6-1", "protein_name": "Melanopsin", "gene_name": "OPN4", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UHM6", "url": "https://www.uniprot.org/uniprotkb/Q9UHM6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38808443", "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": "Melanopsin in the human and chicken choroid.", "journal": "Experimental eye research", "date": "2024-10", "authors": "Platzl Christian, Kaser-Eichberger Alexandra, Trost Andrea, Strohmaier Clemens, Stone Richard, Nickla Debora, Schroedl Falk", "reference": { "type": "PubMed", "id": "39151779", "url": "https://pubmed.ncbi.nlm.nih.gov/39151779" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UHM6-1", "protein_name": "Melanopsin", "gene_name": "OPN4", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UHM6", "url": "https://www.uniprot.org/uniprotkb/Q9UHM6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.39151779", "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": "Mammalian acyl-CoA:lysophosphatidylcholine acyltransferase enzymes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Soupene E, Fyrst H, Kuypers FA", "reference": { "type": "PubMed", "id": "18156367", "url": "https://pubmed.ncbi.nlm.nih.gov/18156367" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NF37-1", "protein_name": "Lysophosphatidylcholine acyltransferase 1", "gene_name": "LPCAT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6NVG1-1", "protein_name": "Lysophospholipid acyltransferase LPCAT4", "gene_name": "Lpcat4", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q8BYI6-1", "protein_name": "Lysophosphatidylcholine acyltransferase 2", "gene_name": "Lpcat2", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q3TFD2-1", "protein_name": "Lysophosphatidylcholine acyltransferase 1", "gene_name": "Lpcat1", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NF37", "url": "https://www.uniprot.org/uniprotkb/Q8NF37" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.18156367", "abstract": "", "glycosylation": [], "mutagenesis": [], "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": "Lysophosphatidylcholine acyltransferase 1 (LPCAT1) overexpression in human colorectal cancer.", "journal": "Journal of molecular medicine (Berlin, Germany)", "date": "2009", "authors": "Mansilla F, da Costa KA, Wang S, Kruhoffer M, Lewin TM, Orntoft TF, Coleman RA, Birkenkamp-Demtroder K", "reference": { "type": "PubMed", "id": "18974965", "url": "https://pubmed.ncbi.nlm.nih.gov/18974965" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NF37-1", "protein_name": "Lysophosphatidylcholine acyltransferase 1", "gene_name": "LPCAT1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NF37", "url": "https://www.uniprot.org/uniprotkb/Q8NF37" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.18974965", "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": "LPS impairs phospholipid synthesis by triggering beta-transducin repeat-containing protein (beta-TrCP)-mediated polyubiquitination and degradation of the surfactant enzyme acyl-CoA:lysophosphatidylcholine acyltransferase I (LPCAT1).", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Zou C, Butler PL, Coon TA, Smith RM, Hammen G, Zhao Y, Chen BB, Mallampalli RK", "reference": { "type": "PubMed", "id": "21068446", "url": "https://pubmed.ncbi.nlm.nih.gov/21068446" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NF37-1", "protein_name": "Lysophosphatidylcholine acyltransferase 1", "gene_name": "LPCAT1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NF37", "url": "https://www.uniprot.org/uniprotkb/Q8NF37" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 178, "end_pos": 178, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8NF37", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NF37" }, { "database": "PubMed", "id": "21068446", "url": "https://pubmed.ncbi.nlm.nih.gov/21068446" } ], "site_lbl": "Ser178", "uniprot_canonical_ac": "Q8NF37-1" } ], "record_id": "pubmed.21068446", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "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": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "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": "Human lysophosphatidylcholine acyltransferases 1 and 2 are located in lipid droplets where they catalyze the formation of phosphatidylcholine.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Moessinger C, Kuerschner L, Spandl J, Shevchenko A, Thiele C", "reference": { "type": "PubMed", "id": "21498505", "url": "https://pubmed.ncbi.nlm.nih.gov/21498505" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NF37-1", "protein_name": "Lysophosphatidylcholine acyltransferase 1", "gene_name": "LPCAT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7L5N7-1", "protein_name": "Lysophosphatidylcholine acyltransferase 2", "gene_name": "LPCAT2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NF37", "url": "https://www.uniprot.org/uniprotkb/Q8NF37" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.21498505", "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": "Two different pathways of phosphatidylcholine synthesis, the Kennedy Pathway and the Lands Cycle, differentially regulate cellular triacylglycerol storage.", "journal": "BMC cell biology", "date": "2014-12-10", "authors": "Moessinger Christine, Klizaite Kristina, Steinhagen Almut, Philippou-Massier Julia, Shevchenko Andrej, Hoch Michael, Ejsing Christer S, Thiele Christoph", "reference": { "type": "PubMed", "id": "25491198", "url": "https://pubmed.ncbi.nlm.nih.gov/25491198" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NF37-1", "protein_name": "Lysophosphatidylcholine acyltransferase 1", "gene_name": "LPCAT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7L5N7-1", "protein_name": "Lysophosphatidylcholine acyltransferase 2", "gene_name": "LPCAT2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q0KHU5-1", "protein_name": "Lysophosphatidylcholine acyltransferase", "gene_name": "LPCAT", "tax_name": "Fruit fly" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NF37", "url": "https://www.uniprot.org/uniprotkb/Q8NF37" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.25491198", "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": "LncRNA AC012360.1 facilitates growth and metastasis by regulating the miR-139-5p/LPCAT1 axis in hepatocellular carcinoma.", "journal": "Environmental toxicology", "date": "2023-09", "authors": "Zhao Yun, Liu Ying, Shi Xue", "reference": { "type": "PubMed", "id": "37300846", "url": "https://pubmed.ncbi.nlm.nih.gov/37300846" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NF37-1", "protein_name": "Lysophosphatidylcholine acyltransferase 1", "gene_name": "LPCAT1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NF37", "url": "https://www.uniprot.org/uniprotkb/Q8NF37" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37300846", "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": "Biomarkers of ulcerative colitis disease activity CXCL1, CYP2R1, LPCAT1, and NEU4 and their relationship to immune infiltrates.", "journal": "Scientific reports", "date": "2023-07-26", "authors": "Huo Aijing, Wang Fengmei", "reference": { "type": "PubMed", "id": "37495756", "url": "https://pubmed.ncbi.nlm.nih.gov/37495756" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NF37-1", "protein_name": "Lysophosphatidylcholine acyltransferase 1", "gene_name": "LPCAT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WWR8-1", "protein_name": "Sialidase-4", "gene_name": "NEU4", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NF37", "url": "https://www.uniprot.org/uniprotkb/Q8NF37" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37495756", "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": "Nuclear respiratory factor 1 drives hepatocellular carcinoma progression by activating LPCAT1-ERK1/2-CREB axis.", "journal": "Biology direct", "date": "2023-10-24", "authors": "Liu Ran, Yin Chuanzheng, Zhao Peng, Guo Bing, Ke Wenbo, Zheng Xichuan, Xie Dawei, Wang Yaofeng, Wang Gengqiao, Jia Yinzhao, Gao Yang, Hu Wenjun, Liu Gang Logan, Song Zifang", "reference": { "type": "PubMed", "id": "37875967", "url": "https://pubmed.ncbi.nlm.nih.gov/37875967" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NF37-1", "protein_name": "Lysophosphatidylcholine acyltransferase 1", "gene_name": "LPCAT1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NF37", "url": "https://www.uniprot.org/uniprotkb/Q8NF37" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37875967", "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": "LPCAT1 promotes melanoma cell proliferation via Akt signaling.", "journal": "Oncology reports", "date": "2024-05", "authors": "Wang Yuqian, Huang Yingjian, Wang Yan, Zhang Wen, Wang Ning, Bai Ruimin, Luo Ruiting, Tuo Huihui, Zheng Yan", "reference": { "type": "PubMed", "id": "38551165", "url": "https://pubmed.ncbi.nlm.nih.gov/38551165" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NF37-1", "protein_name": "Lysophosphatidylcholine acyltransferase 1", "gene_name": "LPCAT1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NF37", "url": "https://www.uniprot.org/uniprotkb/Q8NF37" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38551165", "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": "LPCAT1-mediated membrane phospholipid remodelling promotes ferroptosis evasion and tumour growth.", "journal": "Nature cell biology", "date": "2024-05", "authors": "Li Ziwen, Hu Yameng, Zheng Haiqing, Li Man, Liu Yuanji, Feng Rongni, Li Xincheng, Zhang Shuxia, Tang Miaoling, Yang Meisongzhu, Yu Ruyuan, Xu Yingru, Liao Xinyi, Chen Suwen, Qian Wanying, Zhang Qiliang, Tang Daolin, Li Bo, Song Libing, Li Jun", "reference": { "type": "PubMed", "id": "38671262", "url": "https://pubmed.ncbi.nlm.nih.gov/38671262" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NF37-1", "protein_name": "Lysophosphatidylcholine acyltransferase 1", "gene_name": "LPCAT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q3TFD2-1", "protein_name": "Lysophosphatidylcholine acyltransferase 1", "gene_name": "Lpcat1", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NF37", "url": "https://www.uniprot.org/uniprotkb/Q8NF37" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38671262", "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": "Natural Mutations Affect Structure and Function of gC1q Domain of Otolin-1.", "journal": "International journal of molecular sciences", "date": "2021", "authors": "Holubowicz R, Ozyhar A, Dobryszycki P", "reference": { "type": "PubMed", "id": "34445792", "url": "https://pubmed.ncbi.nlm.nih.gov/34445792" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "A6NHN0-1", "protein_name": "Otolin-1", "gene_name": "OTOL1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NHN0", "url": "https://www.uniprot.org/uniprotkb/A6NHN0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.34445792", "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": "N'-terminal- and Ca(2+)-induced stabilization of high-order oligomers of full-length Danio rerio and Homo sapiens otolin-1.", "journal": "International journal of biological macromolecules", "date": "2022", "authors": "Bielak K, Holubowicz R, Zoglowek A, Zak A, Kedzierski P, Ozyhar A, Dobryszycki P", "reference": { "type": "PubMed", "id": "35447266", "url": "https://pubmed.ncbi.nlm.nih.gov/35447266" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "A6NHN0-1", "protein_name": "Otolin-1", "gene_name": "OTOL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "A5PN28-1", "protein_name": "Otolin-1-A", "gene_name": "otol1a", "tax_name": "Zebrafish" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NHN0", "url": "https://www.uniprot.org/uniprotkb/A6NHN0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.35447266", "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": "A potential serological biomarker for inner ear pathologies: OTOLIN-1.", "journal": "Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale", "date": "2022-08", "authors": "Avallone Emilio, Schmitt Heike, Lilli Giorgio, Warnecke Athanasia, Lesinski-Schiedat Anke, Lenarz Thomas, Willenborg Kerstin", "reference": { "type": "PubMed", "id": "36254652", "url": "https://pubmed.ncbi.nlm.nih.gov/36254652" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "A6NHN0-1", "protein_name": "Otolin-1", "gene_name": "OTOL1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NHN0", "url": "https://www.uniprot.org/uniprotkb/A6NHN0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.36254652", "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": "Serum Otoconin-90 and Otolin-1 Concentrations in Benign Paroxysmal Positional Vertigo.", "journal": "Biomolecules", "date": "2024-10-10", "authors": "Aygun Demet, Dumur Seyma, Elgormus Mehmet Nuri, Alpaslan Mehmet Serkan, Uzun Hafize", "reference": { "type": "PubMed", "id": "39456211", "url": "https://pubmed.ncbi.nlm.nih.gov/39456211" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "A6NHN0-1", "protein_name": "Otolin-1", "gene_name": "OTOL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q02509-1", "protein_name": "Otoconin-90", "gene_name": "OC90", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NHN0", "url": "https://www.uniprot.org/uniprotkb/A6NHN0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.39456211", "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": "Molecular cloning and characterization of a human uronyl 2-sulfotransferase that sulfates iduronyl and glucuronyl residues in dermatan/chondroitin sulfate.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Kobayashi M, Sugumaran G, Liu J, Shworak NW, Silbert JE, Rosenberg RD", "reference": { "type": "PubMed", "id": "10187838", "url": "https://pubmed.ncbi.nlm.nih.gov/10187838" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NPF2-1", "protein_name": "Carbohydrate sulfotransferase 11", "gene_name": "CHST11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q70JA7-1", "protein_name": "Chondroitin sulfate synthase 3", "gene_name": "CHSY3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NET6-1", "protein_name": "Carbohydrate sulfotransferase 13", "gene_name": "CHST13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRB3-1", "protein_name": "Carbohydrate sulfotransferase 12", "gene_name": "CHST12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NCH0-1", "protein_name": "Carbohydrate sulfotransferase 14", "gene_name": "CHST14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LFX5-1", "protein_name": "Carbohydrate sulfotransferase 15", "gene_name": "CHST15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86X52-1", "protein_name": "Chondroitin sulfate synthase 1", "gene_name": "CHSY1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UL01-1", "protein_name": "Dermatan-sulfate epimerase", "gene_name": "DSE", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IZ52-1", "protein_name": "Chondroitin polymerizing factor, non-catalytic subunit", "gene_name": "CHPF", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P2E5-1", "protein_name": "Chondroitin polymerizing factor 2, non-catalytic subunit", "gene_name": "CHPF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LGC8-1", "protein_name": "Carbohydrate sulfotransferase 3", "gene_name": "CHST3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NS84-1", "protein_name": "Carbohydrate sulfotransferase 7", "gene_name": "CHST7", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2C2-1", "protein_name": "Uronyl 2-sulfotransferase", "gene_name": "UST", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TDX6-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 1", "gene_name": "CSGALNACT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N6G5-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 2", "gene_name": "CSGALNACT2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IZU8-1", "protein_name": "Dermatan-sulfate epimerase-like protein", "gene_name": "DSEL", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10187838", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 23 } ], "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 HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Triggs-Raine B, Salo TJ, Zhang H, Wicklow BA, Natowicz MR", "reference": { "type": "PubMed", "id": "10339581", "url": "https://pubmed.ncbi.nlm.nih.gov/10339581" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P22304-1", "protein_name": "Iduronate 2-sulfatase", "gene_name": "IDS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P35475-1", "protein_name": "Alpha-L-iduronidase", "gene_name": "IDUA", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06865-1", "protein_name": "Beta-hexosaminidase subunit alpha", "gene_name": "HEXA", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07686-1", "protein_name": "Beta-hexosaminidase subunit beta", "gene_name": "HEXB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15848-1", "protein_name": "Arylsulfatase B", "gene_name": "ARSB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16278-1", "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43820-1", "protein_name": "Hyaluronidase-3", "gene_name": "HYAL3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IW92-1", "protein_name": "Beta-galactosidase-1-like protein 2", "gene_name": "GLB1L2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NCI6-1", "protein_name": "Beta-galactosidase-1-like protein 3", "gene_name": "GLB1L3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08236-1", "protein_name": "Beta-glucuronidase", "gene_name": "GUSB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2M3T9-1", "protein_name": "Hyaluronidase-4", "gene_name": "HYAL4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12794-1", "protein_name": "Hyaluronidase-1", "gene_name": "HYAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UWU2-1", "protein_name": "Beta-galactosidase-1-like protein", "gene_name": "GLB1L", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs1553713075", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1553713075" }, { "id": "10339581", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10339581" } ], "glycoeffect": [], "start_pos": 251, "end_pos": 251, "sequence_org": "V", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "50302170_50302206delinsCGGGCCACACG", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V251", "disease": [ { "disease_id": "DOID:0050809", "recommended_name": { "id": "DOID:0050809", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050809", "name": "mucopolysaccharidosis IX", "description": "A mucopolysaccharidosis characterized by a deficiency in hyaluronidase." }, "synonyms": [ { "id": "MONDO:0011093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011093", "name": "mucopolysaccharidosis type 9", "description": "An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency." }, { "id": "MONDO:0011093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011093", "name": "MPS9", "description": "" }, { "id": "MONDO:0011093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011093", "name": "MPSIX", "description": "" }, { "id": "MONDO:0011093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011093", "name": "mucopolysaccharidosis type 9", "description": "" }, { "id": "MONDO:0011093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011093", "name": "mucopolysaccharidosis type IX", "description": "" }, { "id": "MONDO:0011093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011093", "name": "mucopolysaccharidosis, type IX", "description": "" }, { "id": "MIM:601492", "resource": "MIM", "url": "https://www.omim.org/entry/601492", "name": "Mucopolysaccharidosis 9", "description": "Mucopolysaccharidosis 9" } ], "unlinked_id_list": [], "evidence": [ { "id": "601492", "database": "MIM", "url": "https://www.omim.org/entry/601492" }, { "id": "0050809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050809" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000000000010.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q12794-1" }, { "evidence": [ { "id": "Q12794", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q12794" }, { "id": "rs104893743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104893743" }, { "id": "rs104893743", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104893743" }, { "id": "rs104893743", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs104893743#frequency_tab" }, { "id": "rs104893743", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs104893743" }, { "id": "10339581", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10339581" }, { "id": "8793927", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8793927" }, { "id": "rs104893743", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs104893743" } ], "glycoeffect": [], "start_pos": 268, "end_pos": 268, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "3", "chr_pos": "50302155", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E268", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:0050809", "recommended_name": { "id": "DOID:0050809", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050809", "name": "mucopolysaccharidosis IX", "description": "A mucopolysaccharidosis characterized by a deficiency in hyaluronidase." }, "synonyms": [ { "id": "MONDO:0011093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011093", "name": "mucopolysaccharidosis type 9", "description": "An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency." }, { "id": "MONDO:0011093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011093", "name": "MPS9", "description": "" }, { "id": "MONDO:0011093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011093", "name": "MPSIX", "description": "" }, { "id": "MONDO:0011093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011093", "name": "mucopolysaccharidosis type 9", "description": "" }, { "id": "MONDO:0011093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011093", "name": "mucopolysaccharidosis type IX", "description": "" }, { "id": "MONDO:0011093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011093", "name": "mucopolysaccharidosis, type IX", "description": "" }, { "id": "MIM:601492", "resource": "MIM", "url": "https://www.omim.org/entry/601492", "name": "Mucopolysaccharidosis 9", "description": "Mucopolysaccharidosis 9" } ], "unlinked_id_list": [], "evidence": [ { "id": "601492", "database": "MIM", "url": "https://www.omim.org/entry/601492" }, { "id": "0050809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050809" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000001000000000000000.00000000000000.000000000001000000.00001.01.000.000", "uniprot_canonical_ac": "Q12794-1" } ], "record_id": "pubmed.10339581", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 20 } ], "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": "Molecular cloning and expression of a novel chondroitin 6-O-sulfotransferase.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Kitagawa H, Fujita M, Ito N, Sugahara K", "reference": { "type": "PubMed", "id": "10781596", "url": "https://pubmed.ncbi.nlm.nih.gov/10781596" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NPF2-1", "protein_name": "Carbohydrate sulfotransferase 11", "gene_name": "CHST11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q70JA7-1", "protein_name": "Chondroitin sulfate synthase 3", "gene_name": "CHSY3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NET6-1", "protein_name": "Carbohydrate sulfotransferase 13", "gene_name": "CHST13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRB3-1", "protein_name": "Carbohydrate sulfotransferase 12", "gene_name": "CHST12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LFX5-1", "protein_name": "Carbohydrate sulfotransferase 15", "gene_name": "CHST15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86X52-1", "protein_name": "Chondroitin sulfate synthase 1", "gene_name": "CHSY1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IZ52-1", "protein_name": "Chondroitin polymerizing factor, non-catalytic subunit", "gene_name": "CHPF", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P2E5-1", "protein_name": "Chondroitin polymerizing factor 2, non-catalytic subunit", "gene_name": "CHPF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LGC8-1", "protein_name": "Carbohydrate sulfotransferase 3", "gene_name": "CHST3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NS84-1", "protein_name": "Carbohydrate sulfotransferase 7", "gene_name": "CHST7", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2C2-1", "protein_name": "Uronyl 2-sulfotransferase", "gene_name": "UST", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TDX6-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 1", "gene_name": "CSGALNACT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N6G5-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 2", "gene_name": "CSGALNACT2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10781596", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 20 } ], "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": "Molecular cloning and expression of two distinct human chondroitin 4-O-sulfotransferases that belong to the HNK-1 sulfotransferase gene family.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Hiraoka N, Nakagawa H, Ong E, Akama TO, Fukuda MN, Fukuda M", "reference": { "type": "PubMed", "id": "10781601", "url": "https://pubmed.ncbi.nlm.nih.gov/10781601" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NPF2-1", "protein_name": "Carbohydrate sulfotransferase 11", "gene_name": "CHST11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q70JA7-1", "protein_name": "Chondroitin sulfate synthase 3", "gene_name": "CHSY3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NET6-1", "protein_name": "Carbohydrate sulfotransferase 13", "gene_name": "CHST13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRB3-1", "protein_name": "Carbohydrate sulfotransferase 12", "gene_name": "CHST12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LFX5-1", "protein_name": "Carbohydrate sulfotransferase 15", "gene_name": "CHST15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86X52-1", "protein_name": "Chondroitin sulfate synthase 1", "gene_name": "CHSY1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IZ52-1", "protein_name": "Chondroitin polymerizing factor, non-catalytic subunit", "gene_name": "CHPF", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P2E5-1", "protein_name": "Chondroitin polymerizing factor 2, non-catalytic subunit", "gene_name": "CHPF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LGC8-1", "protein_name": "Carbohydrate sulfotransferase 3", "gene_name": "CHST3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NS84-1", "protein_name": "Carbohydrate sulfotransferase 7", "gene_name": "CHST7", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2C2-1", "protein_name": "Uronyl 2-sulfotransferase", "gene_name": "UST", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TDX6-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 1", "gene_name": "CSGALNACT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N6G5-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 2", "gene_name": "CSGALNACT2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10781601", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 20 } ], "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": "Biosynthesis of decorin and glypican.", "journal": "Matrix biology : journal of the International Society for Matrix Biology", "date": "2000", "authors": "Fransson LA, Belting M, Jonsson M, Mani K, Moses J, Oldberg A", "reference": { "type": "PubMed", "id": "10963998", "url": "https://pubmed.ncbi.nlm.nih.gov/10963998" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NPF2-1", "protein_name": "Carbohydrate sulfotransferase 11", "gene_name": "CHST11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q70JA7-1", "protein_name": "Chondroitin sulfate synthase 3", "gene_name": "CHSY3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NET6-1", "protein_name": "Carbohydrate sulfotransferase 13", "gene_name": "CHST13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRB3-1", "protein_name": "Carbohydrate sulfotransferase 12", "gene_name": "CHST12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LFX5-1", "protein_name": "Carbohydrate sulfotransferase 15", "gene_name": "CHST15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86X52-1", "protein_name": "Chondroitin sulfate synthase 1", "gene_name": "CHSY1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IZ52-1", "protein_name": "Chondroitin polymerizing factor, non-catalytic subunit", "gene_name": "CHPF", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P2E5-1", "protein_name": "Chondroitin polymerizing factor 2, non-catalytic subunit", "gene_name": "CHPF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LGC8-1", "protein_name": "Carbohydrate sulfotransferase 3", "gene_name": "CHST3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NS84-1", "protein_name": "Carbohydrate sulfotransferase 7", "gene_name": "CHST7", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2C2-1", "protein_name": "Uronyl 2-sulfotransferase", "gene_name": "UST", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TDX6-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 1", "gene_name": "CSGALNACT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N6G5-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 2", "gene_name": "CSGALNACT2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10963998", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 20 } ], "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": "Molecular cloning, expression, and chromosomal mapping of human chondroitin 4-sulfotransferase, whose expression pattern in human tissues is different from that of chondroitin 6-sulfotransferase.", "journal": "Journal of biochemistry", "date": "2000", "authors": "Okuda T, Mita S, Yamauchi S, Matsubara T, Yagi F, Yamamori D, Fukuta M, Kuroiwa A, Matsuda Y, Habuchi O", "reference": { "type": "PubMed", "id": "11056388", "url": "https://pubmed.ncbi.nlm.nih.gov/11056388" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NPF2-1", "protein_name": "Carbohydrate sulfotransferase 11", "gene_name": "CHST11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q70JA7-1", "protein_name": "Chondroitin sulfate synthase 3", "gene_name": "CHSY3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NET6-1", "protein_name": "Carbohydrate sulfotransferase 13", "gene_name": "CHST13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRB3-1", "protein_name": "Carbohydrate sulfotransferase 12", "gene_name": "CHST12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LFX5-1", "protein_name": "Carbohydrate sulfotransferase 15", "gene_name": "CHST15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86X52-1", "protein_name": "Chondroitin sulfate synthase 1", "gene_name": "CHSY1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IZ52-1", "protein_name": "Chondroitin polymerizing factor, non-catalytic subunit", "gene_name": "CHPF", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P2E5-1", "protein_name": "Chondroitin polymerizing factor 2, non-catalytic subunit", "gene_name": "CHPF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LGC8-1", "protein_name": "Carbohydrate sulfotransferase 3", "gene_name": "CHST3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NS84-1", "protein_name": "Carbohydrate sulfotransferase 7", "gene_name": "CHST7", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2C2-1", "protein_name": "Uronyl 2-sulfotransferase", "gene_name": "UST", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TDX6-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 1", "gene_name": "CSGALNACT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N6G5-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 2", "gene_name": "CSGALNACT2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11056388", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 20 } ], "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": "Molecular cloning and expression of an N-acetylgalactosamine-4-O-sulfotransferase that transfers sulfate to terminal and non-terminal beta 1,4-linked N-acetylgalactosamine.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Kang HG, Evers MR, Xia G, Baenziger JU, Schachner M", "reference": { "type": "PubMed", "id": "11139592", "url": "https://pubmed.ncbi.nlm.nih.gov/11139592" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NPF2-1", "protein_name": "Carbohydrate sulfotransferase 11", "gene_name": "CHST11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q70JA7-1", "protein_name": "Chondroitin sulfate synthase 3", "gene_name": "CHSY3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7L1S5-1", "protein_name": "Carbohydrate sulfotransferase 9", "gene_name": "CHST9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NET6-1", "protein_name": "Carbohydrate sulfotransferase 13", "gene_name": "CHST13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRB3-1", "protein_name": "Carbohydrate sulfotransferase 12", "gene_name": "CHST12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LFX5-1", "protein_name": "Carbohydrate sulfotransferase 15", "gene_name": "CHST15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86X52-1", "protein_name": "Chondroitin sulfate synthase 1", "gene_name": "CHSY1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IZ52-1", "protein_name": "Chondroitin polymerizing factor, non-catalytic subunit", "gene_name": "CHPF", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P2E5-1", "protein_name": "Chondroitin polymerizing factor 2, non-catalytic subunit", "gene_name": "CHPF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LGC8-1", "protein_name": "Carbohydrate sulfotransferase 3", "gene_name": "CHST3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NS84-1", "protein_name": "Carbohydrate sulfotransferase 7", "gene_name": "CHST7", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2C2-1", "protein_name": "Uronyl 2-sulfotransferase", "gene_name": "UST", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TDX6-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 1", "gene_name": "CSGALNACT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N6G5-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 2", "gene_name": "CSGALNACT2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11139592", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 21 } ], "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": "Different usage of the glycosaminoglycan attachment sites of biglycan.", "journal": "The Journal of biological chemistry", "date": "2001-04-20", "authors": "Kresse H, Seidler D G, Muller M, Breuer E, Hausser H, Roughley P J, Schonherr E", "reference": { "type": "PubMed", "id": "11145959", "url": "https://pubmed.ncbi.nlm.nih.gov/11145959" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true, "automatic_literature_mining": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) (glycosaminoglycan) serine", "icn3d_view": {}, "start_pos": 42, "start_aa": "Ser", "end_pos": 42, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser42", "evidence": [ { "id": "P21810", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P21810#ptm_processing" }, { "id": "2590169", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2590169" }, { "id": "32337544", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/32337544" }, { "id": "25936869", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25936869" }, { "id": "GLY_000481", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000481" }, { "id": "11145959", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11145959" } ], "mining_tool": "GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "GlycoSiteMiner_1.0" } ], "filter_code": "000000000000000100000.00000000001000.00.01001", "uniprot_canonical_ac": "P21810-1" }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true, "automatic_literature_mining": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) (glycosaminoglycan) serine", "icn3d_view": {}, "start_pos": 47, "start_aa": "Ser", "end_pos": 47, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser47", "evidence": [ { "id": "P21810", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P21810#ptm_processing" }, { "id": "2590169", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2590169" }, { "id": "32337544", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/32337544" }, { "id": "11145959", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11145959" }, { "id": "GLY_000481", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000481" } ], "mining_tool": "GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "GlycoSiteMiner_1.0" } ], "filter_code": "000000000000000100000.00000000001000.00.01001", "uniprot_canonical_ac": "P21810-1" } ], "record_id": "pubmed.11145959", "abstract": "", "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": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 2 }, { "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_o_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", "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": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 2 }, { "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_o_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", "mining_tool", "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 }, { "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": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 2 }, { "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_o_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", "mining_tool", "filter_code", "uniprot_canonical_ac" ] } ] }, { "title": "Identification and characterization of asporin. a novel member of the leucine-rich repeat protein family closely related to decorin and biglycan.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Lorenzo P, Aspberg A, Onnerfjord P, Bayliss MT, Neame PJ, Heinegard D", "reference": { "type": "PubMed", "id": "11152692", "url": "https://pubmed.ncbi.nlm.nih.gov/11152692" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BXN1-1", "protein_name": "Asporin", "gene_name": "ASPN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99MQ4-1", "protein_name": "Asporin", "gene_name": "Aspn", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "automatic_literature_mining", "site_category_dict": { "automatic_literature_mining": true }, "site_seq": "S", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 54, "start_aa": "Ser", "end_pos": 54, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser54", "evidence": [ { "id": "11152692", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11152692" }, { "id": "GLY_000481", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000481" } ], "mining_tool": "GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "GlycoSiteMiner_1.0" } ], "filter_code": "000000000000000100000.00000000001000.00.01000", "uniprot_canonical_ac": "P21810-1" }, { "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": 282, "start_aa": "Asn", "end_pos": 282, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn282", "evidence": [ { "id": "Q9BXN1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9BXN1#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19159218" }, { "id": "11152692", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11152692" }, { "id": "24190977", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ], "filter_code": "001000000000000000000.00010000000000.00.01001", "uniprot_canonical_ac": "Q9BXN1-1" }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (GalNAc...) serine;O-GalNAcylation", "icn3d_view": {}, "start_pos": 55, "start_aa": "Ser", "end_pos": 55, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser55", "evidence": [ { "id": "Q9BXN1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9BXN1#ptm_processing" }, { "id": "11152692", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11152692" } ], "filter_code": "000000000000000100000.00000010000000.00.01001", "uniprot_canonical_ac": "Q9BXN1-1" } ], "record_id": "pubmed.11152692", "abstract": "", "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": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 2 }, { "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": 3 }, { "field": "exact_o_linked_sites", "count": 2 }, { "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": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_sites", "count": 1 }, { "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": 2 }, { "field": "exact_o_linked_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": "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": 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", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl", "mining_tool", "filter_code", "uniprot_canonical_ac" ] } ] }, { "title": "The glucuronyl C5-epimerase activity is the limiting factor in the dermatan sulfate biosynthesis.", "journal": "Archives of biochemistry and biophysics", "date": "2001", "authors": "Tiedemann K, Larsson T, Heinegard D, Malmstrom A", "reference": { "type": "PubMed", "id": "11414686", "url": "https://pubmed.ncbi.nlm.nih.gov/11414686" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NCH0-1", "protein_name": "Carbohydrate sulfotransferase 14", "gene_name": "CHST14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LFX5-1", "protein_name": "Carbohydrate sulfotransferase 15", "gene_name": "CHST15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UL01-1", "protein_name": "Dermatan-sulfate epimerase", "gene_name": "DSE", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2C2-1", "protein_name": "Uronyl 2-sulfotransferase", "gene_name": "UST", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IZU8-1", "protein_name": "Dermatan-sulfate epimerase-like protein", "gene_name": "DSEL", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11414686", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 12 } ], "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": "Molecular cloning and characterization of a dermatan-specific N-acetylgalactosamine 4-O-sulfotransferase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Evers MR, Xia G, Kang HG, Schachner M, Baenziger JU", "reference": { "type": "PubMed", "id": "11470797", "url": "https://pubmed.ncbi.nlm.nih.gov/11470797" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NCH0-1", "protein_name": "Carbohydrate sulfotransferase 14", "gene_name": "CHST14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LFX5-1", "protein_name": "Carbohydrate sulfotransferase 15", "gene_name": "CHST15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UL01-1", "protein_name": "Dermatan-sulfate epimerase", "gene_name": "DSE", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2C2-1", "protein_name": "Uronyl 2-sulfotransferase", "gene_name": "UST", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IZU8-1", "protein_name": "Dermatan-sulfate epimerase-like protein", "gene_name": "DSEL", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11470797", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 12 } ], "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": "Molecular cloning and expression of a human chondroitin synthase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Kitagawa H, Uyama T, Sugahara K", "reference": { "type": "PubMed", "id": "11514575", "url": "https://pubmed.ncbi.nlm.nih.gov/11514575" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NPF2-1", "protein_name": "Carbohydrate sulfotransferase 11", "gene_name": "CHST11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q70JA7-1", "protein_name": "Chondroitin sulfate synthase 3", "gene_name": "CHSY3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NET6-1", "protein_name": "Carbohydrate sulfotransferase 13", "gene_name": "CHST13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRB3-1", "protein_name": "Carbohydrate sulfotransferase 12", "gene_name": "CHST12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LFX5-1", "protein_name": "Carbohydrate sulfotransferase 15", "gene_name": "CHST15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86X52-1", "protein_name": "Chondroitin sulfate synthase 1", "gene_name": "CHSY1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IZ52-1", "protein_name": "Chondroitin polymerizing factor, non-catalytic subunit", "gene_name": "CHPF", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P2E5-1", "protein_name": "Chondroitin polymerizing factor 2, non-catalytic subunit", "gene_name": "CHPF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LGC8-1", "protein_name": "Carbohydrate sulfotransferase 3", "gene_name": "CHST3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NS84-1", "protein_name": "Carbohydrate sulfotransferase 7", "gene_name": "CHST7", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2C2-1", "protein_name": "Uronyl 2-sulfotransferase", "gene_name": "UST", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TDX6-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 1", "gene_name": "CSGALNACT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N6G5-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 2", "gene_name": "CSGALNACT2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11514575", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 20 } ], "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": "A novel inhibitor of beta-glucuronidase: L-aspartic acid.", "journal": "Pediatric research", "date": "2001", "authors": "Kreamer BL, Siegel FL, Gourley GR", "reference": { "type": "PubMed", "id": "11568288", "url": "https://pubmed.ncbi.nlm.nih.gov/11568288" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P22304-1", "protein_name": "Iduronate 2-sulfatase", "gene_name": "IDS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P35475-1", "protein_name": "Alpha-L-iduronidase", "gene_name": "IDUA", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06865-1", "protein_name": "Beta-hexosaminidase subunit alpha", "gene_name": "HEXA", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07686-1", "protein_name": "Beta-hexosaminidase subunit beta", "gene_name": "HEXB", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRA2-1", "protein_name": "Sialin", "gene_name": "SLC17A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "P19634-1", "protein_name": "Sodium/hydrogen exchanger 1", "gene_name": "SLC9A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15848-1", "protein_name": "Arylsulfatase B", "gene_name": "ARSB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16278-1", "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16070-1", "protein_name": "CD44 antigen", "gene_name": "CD44", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99653-1", "protein_name": "Calcineurin B homologous protein 1", "gene_name": "CHP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43820-1", "protein_name": "Hyaluronidase-3", "gene_name": "HYAL3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y5Y7-1", "protein_name": "Lymphatic vessel endothelial hyaluronic acid receptor 1", "gene_name": "LYVE1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IW92-1", "protein_name": "Beta-galactosidase-1-like protein 2", "gene_name": "GLB1L2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12891-1", "protein_name": "Hyaluronidase-2", "gene_name": "HYAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NCI6-1", "protein_name": "Beta-galactosidase-1-like protein 3", "gene_name": "GLB1L3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08236-1", "protein_name": "Beta-glucuronidase", "gene_name": "GUSB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75330-1", "protein_name": "Hyaluronan mediated motility receptor", "gene_name": "HMMR", "tax_name": "Human" }, { "uniprot_canonical_ac": "P38567-1", "protein_name": "Hyaluronidase PH-20", "gene_name": "SPAM1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2M3T9-1", "protein_name": "Hyaluronidase-4", "gene_name": "HYAL4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12794-1", "protein_name": "Hyaluronidase-1", "gene_name": "HYAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WWQ8-1", "protein_name": "Stabilin-2", "gene_name": "STAB2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WUJ3-1", "protein_name": "Cell migration-inducing and hyaluronan-binding protein", "gene_name": "CEMIP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UWU2-1", "protein_name": "Beta-galactosidase-1-like protein", "gene_name": "GLB1L", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11568288", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 30 } ], "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": "Molecular cloning and expression of human chondroitin N-acetylgalactosaminyltransferase: the key enzyme for chain initiation and elongation of chondroitin/dermatan sulfate on the protein linkage region tetrasaccharide shared by heparin/heparan sulfate.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Uyama T, Kitagawa H, Tamura Ji J, Sugahara K", "reference": { "type": "PubMed", "id": "11788602", "url": "https://pubmed.ncbi.nlm.nih.gov/11788602" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NPF2-1", "protein_name": "Carbohydrate sulfotransferase 11", "gene_name": "CHST11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q70JA7-1", "protein_name": "Chondroitin sulfate synthase 3", "gene_name": "CHSY3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NET6-1", "protein_name": "Carbohydrate sulfotransferase 13", "gene_name": "CHST13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRB3-1", "protein_name": "Carbohydrate sulfotransferase 12", "gene_name": "CHST12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LFX5-1", "protein_name": "Carbohydrate sulfotransferase 15", "gene_name": "CHST15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86X52-1", "protein_name": "Chondroitin sulfate synthase 1", "gene_name": "CHSY1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IZ52-1", "protein_name": "Chondroitin polymerizing factor, non-catalytic subunit", "gene_name": "CHPF", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P2E5-1", "protein_name": "Chondroitin polymerizing factor 2, non-catalytic subunit", "gene_name": "CHPF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LGC8-1", "protein_name": "Carbohydrate sulfotransferase 3", "gene_name": "CHST3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NS84-1", "protein_name": "Carbohydrate sulfotransferase 7", "gene_name": "CHST7", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2C2-1", "protein_name": "Uronyl 2-sulfotransferase", "gene_name": "UST", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TDX6-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 1", "gene_name": "CSGALNACT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N6G5-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 2", "gene_name": "CSGALNACT2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11788602", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 20 } ], "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": "Molecular cloning and characterization of chondroitin-4-O-sulfotransferase-3. A novel member of the HNK-1 family of sulfotransferases.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Kang HG, Evers MR, Xia G, Baenziger JU, Schachner M", "reference": { "type": "PubMed", "id": "12080076", "url": "https://pubmed.ncbi.nlm.nih.gov/12080076" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43529-1", "protein_name": "Carbohydrate sulfotransferase 10", "gene_name": "CHST10", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NPF2-1", "protein_name": "Carbohydrate sulfotransferase 11", "gene_name": "CHST11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q70JA7-1", "protein_name": "Chondroitin sulfate synthase 3", "gene_name": "CHSY3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NET6-1", "protein_name": "Carbohydrate sulfotransferase 13", "gene_name": "CHST13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRB3-1", "protein_name": "Carbohydrate sulfotransferase 12", "gene_name": "CHST12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LFX5-1", "protein_name": "Carbohydrate sulfotransferase 15", "gene_name": "CHST15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86X52-1", "protein_name": "Chondroitin sulfate synthase 1", "gene_name": "CHSY1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IZ52-1", "protein_name": "Chondroitin polymerizing factor, non-catalytic subunit", "gene_name": "CHPF", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P2E5-1", "protein_name": "Chondroitin polymerizing factor 2, non-catalytic subunit", "gene_name": "CHPF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LGC8-1", "protein_name": "Carbohydrate sulfotransferase 3", "gene_name": "CHST3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NS84-1", "protein_name": "Carbohydrate sulfotransferase 7", "gene_name": "CHST7", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2C2-1", "protein_name": "Uronyl 2-sulfotransferase", "gene_name": "UST", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TDX6-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 1", "gene_name": "CSGALNACT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N6G5-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 2", "gene_name": "CSGALNACT2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12080076", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 21 } ], "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": "Molecular cloning and characterization of a novel chondroitin sulfate glucuronyltransferase that transfers glucuronic acid to N-acetylgalactosamine.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Gotoh M, Yada T, Sato T, Akashima T, Iwasaki H, Mochizuki H, Inaba N, Togayachi A, Kudo T, Watanabe H, Kimata K, Narimatsu H", "reference": { "type": "PubMed", "id": "12145278", "url": "https://pubmed.ncbi.nlm.nih.gov/12145278" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NPF2-1", "protein_name": "Carbohydrate sulfotransferase 11", "gene_name": "CHST11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q70JA7-1", "protein_name": "Chondroitin sulfate synthase 3", "gene_name": "CHSY3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NET6-1", "protein_name": "Carbohydrate sulfotransferase 13", "gene_name": "CHST13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRB3-1", "protein_name": "Carbohydrate sulfotransferase 12", "gene_name": "CHST12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LFX5-1", "protein_name": "Carbohydrate sulfotransferase 15", "gene_name": "CHST15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86X52-1", "protein_name": "Chondroitin sulfate synthase 1", "gene_name": "CHSY1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IZ52-1", "protein_name": "Chondroitin polymerizing factor, non-catalytic subunit", "gene_name": "CHPF", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P2E5-1", "protein_name": "Chondroitin polymerizing factor 2, non-catalytic subunit", "gene_name": "CHPF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LGC8-1", "protein_name": "Carbohydrate sulfotransferase 3", "gene_name": "CHST3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NS84-1", "protein_name": "Carbohydrate sulfotransferase 7", "gene_name": "CHST7", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2C2-1", "protein_name": "Uronyl 2-sulfotransferase", "gene_name": "UST", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TDX6-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 1", "gene_name": "CSGALNACT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N6G5-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 2", "gene_name": "CSGALNACT2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12145278", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 20 } ], "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": "Enzymatic synthesis of chondroitin with a novel chondroitin sulfate N-acetylgalactosaminyltransferase that transfers N-acetylgalactosamine to glucuronic acid in initiation and elongation of chondroitin sulfate synthesis.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Gotoh M, Sato T, Akashima T, Iwasaki H, Kameyama A, Mochizuki H, Yada T, Inaba N, Zhang Y, Kikuchi N, Kwon YD, Togayachi A, Kudo T, Nishihara S, Watanabe H, Kimata K, Narimatsu H", "reference": { "type": "PubMed", "id": "12163485", "url": "https://pubmed.ncbi.nlm.nih.gov/12163485" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NPF2-1", "protein_name": "Carbohydrate sulfotransferase 11", "gene_name": "CHST11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q70JA7-1", "protein_name": "Chondroitin sulfate synthase 3", "gene_name": "CHSY3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NET6-1", "protein_name": "Carbohydrate sulfotransferase 13", "gene_name": "CHST13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRB3-1", "protein_name": "Carbohydrate sulfotransferase 12", "gene_name": "CHST12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LFX5-1", "protein_name": "Carbohydrate sulfotransferase 15", "gene_name": "CHST15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86X52-1", "protein_name": "Chondroitin sulfate synthase 1", "gene_name": "CHSY1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IZ52-1", "protein_name": "Chondroitin polymerizing factor, non-catalytic subunit", "gene_name": "CHPF", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P2E5-1", "protein_name": "Chondroitin polymerizing factor 2, non-catalytic subunit", "gene_name": "CHPF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LGC8-1", "protein_name": "Carbohydrate sulfotransferase 3", "gene_name": "CHST3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NS84-1", "protein_name": "Carbohydrate sulfotransferase 7", "gene_name": "CHST7", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2C2-1", "protein_name": "Uronyl 2-sulfotransferase", "gene_name": "UST", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TDX6-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 1", "gene_name": "CSGALNACT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N6G5-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 2", "gene_name": "CSGALNACT2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12163485", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 20 } ], "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": "Biosynthesis of chondroitin/dermatan sulfate.", "journal": "IUBMB life", "date": "2002", "authors": "Silbert JE, Sugumaran G", "reference": { "type": "PubMed", "id": "12512856", "url": "https://pubmed.ncbi.nlm.nih.gov/12512856" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NCH0-1", "protein_name": "Carbohydrate sulfotransferase 14", "gene_name": "CHST14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LFX5-1", "protein_name": "Carbohydrate sulfotransferase 15", "gene_name": "CHST15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UL01-1", "protein_name": "Dermatan-sulfate epimerase", "gene_name": "DSE", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2C2-1", "protein_name": "Uronyl 2-sulfotransferase", "gene_name": "UST", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IZU8-1", "protein_name": "Dermatan-sulfate epimerase-like protein", "gene_name": "DSEL", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12512856", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 12 } ], "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": "A novel CpG-associated brain-expressed candidate gene for chromosome 18q-linked bipolar disorder.", "journal": "Molecular psychiatry", "date": "2003", "authors": "Goossens D, Van Gestel S, Claes S, De Rijk P, Souery D, Massat I, Van den Bossche D, Backhovens H, Mendlewicz J, Van Broeckhoven C, Del-Favero J", "reference": { "type": "PubMed", "id": "12556911", "url": "https://pubmed.ncbi.nlm.nih.gov/12556911" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NCH0-1", "protein_name": "Carbohydrate sulfotransferase 14", "gene_name": "CHST14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LFX5-1", "protein_name": "Carbohydrate sulfotransferase 15", "gene_name": "CHST15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UL01-1", "protein_name": "Dermatan-sulfate epimerase", "gene_name": "DSE", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2C2-1", "protein_name": "Uronyl 2-sulfotransferase", "gene_name": "UST", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IZU8-1", "protein_name": "Dermatan-sulfate epimerase-like protein", "gene_name": "DSEL", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12556911", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 12 } ], "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": "Chondroitin sulfate synthase-2. Molecular cloning and characterization of a novel human glycosyltransferase homologous to chondroitin sulfate glucuronyltransferase, which has dual enzymatic activities.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Yada T, Gotoh M, Sato T, Shionyu M, Go M, Kaseyama H, Iwasaki H, Kikuchi N, Kwon YD, Togayachi A, Kudo T, Watanabe H, Narimatsu H, Kimata K", "reference": { "type": "PubMed", "id": "12761225", "url": "https://pubmed.ncbi.nlm.nih.gov/12761225" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NPF2-1", "protein_name": "Carbohydrate sulfotransferase 11", "gene_name": "CHST11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q70JA7-1", "protein_name": "Chondroitin sulfate synthase 3", "gene_name": "CHSY3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NET6-1", "protein_name": "Carbohydrate sulfotransferase 13", "gene_name": "CHST13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRB3-1", "protein_name": "Carbohydrate sulfotransferase 12", "gene_name": "CHST12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LFX5-1", "protein_name": "Carbohydrate sulfotransferase 15", "gene_name": "CHST15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86X52-1", "protein_name": "Chondroitin sulfate synthase 1", "gene_name": "CHSY1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IZ52-1", "protein_name": "Chondroitin polymerizing factor, non-catalytic subunit", "gene_name": "CHPF", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P2E5-1", "protein_name": "Chondroitin polymerizing factor 2, non-catalytic subunit", "gene_name": "CHPF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LGC8-1", "protein_name": "Carbohydrate sulfotransferase 3", "gene_name": "CHST3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NS84-1", "protein_name": "Carbohydrate sulfotransferase 7", "gene_name": "CHST7", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2C2-1", "protein_name": "Uronyl 2-sulfotransferase", "gene_name": "UST", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TDX6-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 1", "gene_name": "CSGALNACT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N6G5-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 2", "gene_name": "CSGALNACT2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12761225", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 20 } ], "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": "A unique nonreducing terminal modification of chondroitin sulfate by N-acetylgalactosamine 4-sulfate 6-o-sulfotransferase.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Ohtake S, Kimata K, Habuchi O", "reference": { "type": "PubMed", "id": "12874280", "url": "https://pubmed.ncbi.nlm.nih.gov/12874280" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NPF2-1", "protein_name": "Carbohydrate sulfotransferase 11", "gene_name": "CHST11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q70JA7-1", "protein_name": "Chondroitin sulfate synthase 3", "gene_name": "CHSY3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NET6-1", "protein_name": "Carbohydrate sulfotransferase 13", "gene_name": "CHST13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRB3-1", "protein_name": "Carbohydrate sulfotransferase 12", "gene_name": "CHST12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NCH0-1", "protein_name": "Carbohydrate sulfotransferase 14", "gene_name": "CHST14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LFX5-1", "protein_name": "Carbohydrate sulfotransferase 15", "gene_name": "CHST15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86X52-1", "protein_name": "Chondroitin sulfate synthase 1", "gene_name": "CHSY1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UL01-1", "protein_name": "Dermatan-sulfate epimerase", "gene_name": "DSE", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IZ52-1", "protein_name": "Chondroitin polymerizing factor, non-catalytic subunit", "gene_name": "CHPF", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P2E5-1", "protein_name": "Chondroitin polymerizing factor 2, non-catalytic subunit", "gene_name": "CHPF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LGC8-1", "protein_name": "Carbohydrate sulfotransferase 3", "gene_name": "CHST3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NS84-1", "protein_name": "Carbohydrate sulfotransferase 7", "gene_name": "CHST7", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2C2-1", "protein_name": "Uronyl 2-sulfotransferase", "gene_name": "UST", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TDX6-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 1", "gene_name": "CSGALNACT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N6G5-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 2", "gene_name": "CSGALNACT2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IZU8-1", "protein_name": "Dermatan-sulfate epimerase-like protein", "gene_name": "DSEL", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12874280", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 23 } ], "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": "Chondroitin sulfate synthase-3. Molecular cloning and characterization.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Yada T, Sato T, Kaseyama H, Gotoh M, Iwasaki H, Kikuchi N, Kwon YD, Togayachi A, Kudo T, Watanabe H, Narimatsu H, Kimata K", "reference": { "type": "PubMed", "id": "12907687", "url": "https://pubmed.ncbi.nlm.nih.gov/12907687" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NPF2-1", "protein_name": "Carbohydrate sulfotransferase 11", "gene_name": "CHST11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q70JA7-1", "protein_name": "Chondroitin sulfate synthase 3", "gene_name": "CHSY3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NET6-1", "protein_name": "Carbohydrate sulfotransferase 13", "gene_name": "CHST13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRB3-1", "protein_name": "Carbohydrate sulfotransferase 12", "gene_name": "CHST12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LFX5-1", "protein_name": "Carbohydrate sulfotransferase 15", "gene_name": "CHST15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86X52-1", "protein_name": "Chondroitin sulfate synthase 1", "gene_name": "CHSY1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IZ52-1", "protein_name": "Chondroitin polymerizing factor, non-catalytic subunit", "gene_name": "CHPF", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P2E5-1", "protein_name": "Chondroitin polymerizing factor 2, non-catalytic subunit", "gene_name": "CHPF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LGC8-1", "protein_name": "Carbohydrate sulfotransferase 3", "gene_name": "CHST3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NS84-1", "protein_name": "Carbohydrate sulfotransferase 7", "gene_name": "CHST7", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2C2-1", "protein_name": "Uronyl 2-sulfotransferase", "gene_name": "UST", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TDX6-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 1", "gene_name": "CSGALNACT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N6G5-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 2", "gene_name": "CSGALNACT2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12907687", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 20 } ], "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": "Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Thiele H, Sakano M, Kitagawa H, Sugahara K, Rajab A, Hohne W, Ritter H, Leschik G, Nurnberg P, Mundlos S", "reference": { "type": "PubMed", "id": "15215498", "url": "https://pubmed.ncbi.nlm.nih.gov/15215498" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LGC8-1", "protein_name": "Carbohydrate sulfotransferase 3", "gene_name": "CHST3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs28937593", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28937593" }, { "id": "rs28937593", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs28937593" }, { "id": "15098240", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15098240" }, { "id": "15215498", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15215498" } ], "glycoeffect": [], "start_pos": 304, "end_pos": 304, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "10", "chr_pos": "72007942", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R304", "disease": [ { "disease_id": "DOID:0050813", "recommended_name": { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints." }, "synonyms": [ { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Humero-spinal dysostosis with congenital heart disease", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHST3-Related Skeletal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Kozlowski Celermajer Tink syndrome", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Omani Type", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Spondyloepiphyseal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humero-spinal dysostosis", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal." }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "CHST3-related skeletal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SDCD, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with congenital joint dislocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with multiple dislocations", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Gollop Coates syndrome", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SEDCJD", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "bifurcation of distal humerus with oligoectro-syndactyly", "description": "" }, { "id": "MIM:143095", "resource": "MIM", "url": "https://www.omim.org/entry/143095", "name": "Spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "Spondyloepiphyseal dysplasia with congenital joint dislocations" } ], "unlinked_id_list": [], "evidence": [ { "id": "0007738", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738" }, { "id": "CHST3", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/CHST3/#!details" }, { "id": "9469", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/9469#disease" }, { "id": "0050813", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050813" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q7LGC8-1" } ], "record_id": "pubmed.15215498", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 8 } ], "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": "Biosynthesis of dermatan sulfate: chondroitin-glucuronate C5-epimerase is identical to SART2.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Maccarana M, Olander B, Malmstrom J, Tiedemann K, Aebersold R, Lindahl U, Li JP, Malmstrom A", "reference": { "type": "PubMed", "id": "16505484", "url": "https://pubmed.ncbi.nlm.nih.gov/16505484" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NCH0-1", "protein_name": "Carbohydrate sulfotransferase 14", "gene_name": "CHST14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LFX5-1", "protein_name": "Carbohydrate sulfotransferase 15", "gene_name": "CHST15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UL01-1", "protein_name": "Dermatan-sulfate epimerase", "gene_name": "DSE", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "P0C2H4-1", "protein_name": "Dermatan-sulfate epimerase", "gene_name": "DSE", "tax_name": "Bovine" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2C2-1", "protein_name": "Uronyl 2-sulfotransferase", "gene_name": "UST", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IZU8-1", "protein_name": "Dermatan-sulfate epimerase-like protein", "gene_name": "DSEL", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16505484", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 13 } ], "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": "Mutational study of heparan sulfate 2-O-sulfotransferase and chondroitin sulfate 2-O-sulfotransferase.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Xu D, Song D, Pedersen LC, Liu J", "reference": { "type": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NPF2-1", "protein_name": "Carbohydrate sulfotransferase 11", "gene_name": "CHST11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q70JA7-1", "protein_name": "Chondroitin sulfate synthase 3", "gene_name": "CHSY3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NET6-1", "protein_name": "Carbohydrate sulfotransferase 13", "gene_name": "CHST13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRB3-1", "protein_name": "Carbohydrate sulfotransferase 12", "gene_name": "CHST12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LFX5-1", "protein_name": "Carbohydrate sulfotransferase 15", "gene_name": "CHST15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86X52-1", "protein_name": "Chondroitin sulfate synthase 1", "gene_name": "CHSY1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P25722-1", "protein_name": "Heparin sulfate O-sulfotransferase", "gene_name": "Hs2st", "tax_name": "Fruit fly" }, { "uniprot_canonical_ac": "Q86BJ3-1", "protein_name": "Uronyl 2-sulfotransferase homolog pip", "gene_name": "pip", "tax_name": "Fruit fly" }, { "uniprot_canonical_ac": "A0A8C2LVE3-1", "protein_name": "Heparan sulfate 2-O-sulfotransferase 1", "gene_name": "HS2ST1", "tax_name": "Chinese hamster" }, { "uniprot_canonical_ac": "Q8IZ52-1", "protein_name": "Chondroitin polymerizing factor, non-catalytic subunit", "gene_name": "CHPF", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P2E5-1", "protein_name": "Chondroitin polymerizing factor 2, non-catalytic subunit", "gene_name": "CHPF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LGC8-1", "protein_name": "Carbohydrate sulfotransferase 3", "gene_name": "CHST3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NS84-1", "protein_name": "Carbohydrate sulfotransferase 7", "gene_name": "CHST7", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2C2-1", "protein_name": "Uronyl 2-sulfotransferase", "gene_name": "UST", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TDX6-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 1", "gene_name": "CSGALNACT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N6G5-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 2", "gene_name": "CSGALNACT2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LGA3-1", "protein_name": "Heparan sulfate 2-O-sulfotransferase 1", "gene_name": "HS2ST1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 140, "end_pos": 140, "sequence_org": "H", "sequence_mut": "A", "comment": "Severely abrogates catalytic activity but does not affect 3'-phosphoadenylyl sulfate substrate binding. Completely abolishes catalytic activity; when associated with A-142.", "evidence": [ { "database": "UniProtKB", "id": "A0A8C2LVE3", "url": "https://www.uniprot.org/uniprotkb/A0A8C2LVE3" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "A0A8C2LVE3-1" }, { "start_pos": 142, "end_pos": 142, "sequence_org": "H", "sequence_mut": "A", "comment": "Severely abrogates catalytic activity but does not affect 3'-phosphoadenylyl sulfate substrate binding. Completely abolishes catalytic activity; when associated with A-140.", "evidence": [ { "database": "UniProtKB", "id": "A0A8C2LVE3", "url": "https://www.uniprot.org/uniprotkb/A0A8C2LVE3" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "A0A8C2LVE3-1" }, { "start_pos": 164, "end_pos": 164, "sequence_org": "R", "sequence_mut": "A", "comment": "Severe reduction of catalytic activity due to disruption of binding to the substrate 3'-phosphoadenylyl sulfate.", "evidence": [ { "database": "UniProtKB", "id": "A0A8C2LVE3", "url": "https://www.uniprot.org/uniprotkb/A0A8C2LVE3" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "A0A8C2LVE3-1" }, { "start_pos": 172, "end_pos": 172, "sequence_org": "S", "sequence_mut": "A", "comment": "Severe reduction of catalytic activity due to disruption of binding to the substrate 3'-phosphoadenylyl sulfate.", "evidence": [ { "database": "UniProtKB", "id": "A0A8C2LVE3", "url": "https://www.uniprot.org/uniprotkb/A0A8C2LVE3" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "A0A8C2LVE3-1" }, { "start_pos": 178, "end_pos": 178, "sequence_org": "R", "sequence_mut": "A", "comment": "Severe reduction of catalytic activity but no effect on 3'-phosphoadenylyl sulfate substrate binding; probably disrupts binding to the polysaccharide substrate.", "evidence": [ { "database": "UniProtKB", "id": "A0A8C2LVE3", "url": "https://www.uniprot.org/uniprotkb/A0A8C2LVE3" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "A0A8C2LVE3-1" }, { "start_pos": 181, "end_pos": 181, "sequence_org": "D", "sequence_mut": "A", "comment": "Severe reduction of catalytic activity but no effect on 3'-phosphoadenylyl sulfate substrate binding; probably disrupts binding to the polysaccharide substrate.", "evidence": [ { "database": "UniProtKB", "id": "A0A8C2LVE3", "url": "https://www.uniprot.org/uniprotkb/A0A8C2LVE3" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "A0A8C2LVE3-1" }, { "start_pos": 188, "end_pos": 188, "sequence_org": "R", "sequence_mut": "A", "comment": "No effect on catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "A0A8C2LVE3", "url": "https://www.uniprot.org/uniprotkb/A0A8C2LVE3" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "A0A8C2LVE3-1" }, { "start_pos": 189, "end_pos": 189, "sequence_org": "R", "sequence_mut": "A", "comment": "Severe reduction of catalytic activity but no effect on 3'-phosphoadenylyl sulfate substrate binding.", "evidence": [ { "database": "UniProtKB", "id": "A0A8C2LVE3", "url": "https://www.uniprot.org/uniprotkb/A0A8C2LVE3" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "A0A8C2LVE3-1" }, { "start_pos": 190, "end_pos": 190, "sequence_org": "R", "sequence_mut": "A", "comment": "No effect on catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "A0A8C2LVE3", "url": "https://www.uniprot.org/uniprotkb/A0A8C2LVE3" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "A0A8C2LVE3-1" }, { "start_pos": 191, "end_pos": 191, "sequence_org": "K", "sequence_mut": "A", "comment": "No effect on catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "A0A8C2LVE3", "url": "https://www.uniprot.org/uniprotkb/A0A8C2LVE3" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "A0A8C2LVE3-1" }, { "start_pos": 288, "end_pos": 288, "sequence_org": "R", "sequence_mut": "A", "comment": "Severely abrogates catalytic activity but does not affect 3'-phosphoadenylyl sulfate substrate binding; may be involved in polysaccharide substrate binding specificity.", "evidence": [ { "database": "UniProtKB", "id": "A0A8C2LVE3", "url": "https://www.uniprot.org/uniprotkb/A0A8C2LVE3" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "A0A8C2LVE3-1" }, { "start_pos": 288, "end_pos": 288, "sequence_org": "R", "sequence_mut": "T", "comment": "Severely abrogates catalytic activity but does not affect 3'-phosphoadenylyl sulfate substrate binding; may be involved in polysaccharide substrate binding specificity.", "evidence": [ { "database": "UniProtKB", "id": "A0A8C2LVE3", "url": "https://www.uniprot.org/uniprotkb/A0A8C2LVE3" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "A0A8C2LVE3-1" }, { "start_pos": 80, "end_pos": 80, "sequence_org": "R", "sequence_mut": "A", "comment": "Severe reduction of catalytic activity but no effect on 3'-phosphoadenylyl sulfate substrate binding; probably disrupts binding to the carboxyl group of the iduronic acid of the polysaccharide substrate.", "evidence": [ { "database": "UniProtKB", "id": "A0A8C2LVE3", "url": "https://www.uniprot.org/uniprotkb/A0A8C2LVE3" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "A0A8C2LVE3-1" }, { "start_pos": 83, "end_pos": 83, "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of catalytic activity due to disruption of binding to the substrate 3'-phosphoadenylyl sulfate.", "evidence": [ { "database": "UniProtKB", "id": "A0A8C2LVE3", "url": "https://www.uniprot.org/uniprotkb/A0A8C2LVE3" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "A0A8C2LVE3-1" }, { "start_pos": 84, "end_pos": 84, "sequence_org": "T", "sequence_mut": "A", "comment": "Severe reduction of catalytic activity due to disruption of binding to the substrate 3'-phosphoadenylyl sulfate.", "evidence": [ { "database": "UniProtKB", "id": "A0A8C2LVE3", "url": "https://www.uniprot.org/uniprotkb/A0A8C2LVE3" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "A0A8C2LVE3-1" }, { "start_pos": 86, "end_pos": 86, "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of catalytic activity due to disruption of binding to the substrate 3'-phosphoadenylyl sulfate.", "evidence": [ { "database": "UniProtKB", "id": "A0A8C2LVE3", "url": "https://www.uniprot.org/uniprotkb/A0A8C2LVE3" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "A0A8C2LVE3-1" }, { "start_pos": 87, "end_pos": 87, "sequence_org": "T", "sequence_mut": "A", "comment": "Severe reduction of catalytic activity due to disruption of binding to the substrate 3'-phosphoadenylyl sulfate.", "evidence": [ { "database": "UniProtKB", "id": "A0A8C2LVE3", "url": "https://www.uniprot.org/uniprotkb/A0A8C2LVE3" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "A0A8C2LVE3-1" }, { "start_pos": 109, "end_pos": 109, "sequence_org": "R", "sequence_mut": "A", "comment": "Severe reduction of sulfotransferase activity but no effect on 3'-phosphoadenylyl sulfate substrate binding; probably disrupts binding to the carboxyl group of the iduronic acid of the polysaccharide substrate.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "Q9Y2C2-1" }, { "start_pos": 112, "end_pos": 112, "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of sulfotransferase activity due to disruption of binding to the substrate 3'-phosphoadenylyl sulfate.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "Q9Y2C2-1" }, { "start_pos": 113, "end_pos": 113, "sequence_org": "C", "sequence_mut": "A", "comment": "Severe reduction of sulfotransferase activity due to disruption of binding to the substrate 3'-phosphoadenylyl sulfate.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "Q9Y2C2-1" }, { "start_pos": 115, "end_pos": 115, "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of sulfotransferase activity due to disruption of binding to the substrate 3'-phosphoadenylyl sulfate.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "Q9Y2C2-1" }, { "start_pos": 116, "end_pos": 116, "sequence_org": "R", "sequence_mut": "A", "comment": "Severe reduction of sulfotransferase activity due to disruption of binding to the substrate 3'-phosphoadenylyl sulfate.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "Q9Y2C2-1" }, { "start_pos": 166, "end_pos": 166, "sequence_org": "T", "sequence_mut": "A", "comment": "No loss of sulfotransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "Q9Y2C2-1" }, { "start_pos": 167, "end_pos": 167, "sequence_org": "R", "sequence_mut": "A", "comment": "Some loss of sulfotransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "Q9Y2C2-1" }, { "start_pos": 168, "end_pos": 168, "sequence_org": "H", "sequence_mut": "A", "comment": "Abolishes sulfotransferase activity but does not affect 3'-phosphoadenylyl sulfate substrate binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "Q9Y2C2-1" }, { "start_pos": 189, "end_pos": 189, "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of sulfotransferase activity due to disruption of binding to the substrate 3'-phosphoadenylyl sulfate.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "Q9Y2C2-1" }, { "start_pos": 197, "end_pos": 197, "sequence_org": "S", "sequence_mut": "A", "comment": "Severe reduction of sulfotransferase activity due to disruption of binding to the substrate 3'-phosphoadenylyl sulfate.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "Q9Y2C2-1" }, { "start_pos": 203, "end_pos": 203, "sequence_org": "R", "sequence_mut": "A", "comment": "Complete loss of sulfotransferase activity but only moderate reduction of 3'-phosphoadenylyl sulfate substrate binding; probably disrupts binding to the polysaccharide substrate.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "Q9Y2C2-1" }, { "start_pos": 206, "end_pos": 206, "sequence_org": "D", "sequence_mut": "A", "comment": "Complete loss of sulfotransferase activity but only moderate reduction of 3'-phosphoadenylyl sulfate substrate binding; probably disrupts binding to the polysaccharide substrate.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "Q9Y2C2-1" }, { "start_pos": 221, "end_pos": 221, "sequence_org": "R", "sequence_mut": "A", "comment": "No effect on sulfotransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "Q9Y2C2-1" }, { "start_pos": 321, "end_pos": 321, "sequence_org": "T", "sequence_mut": "A", "comment": "Severely abrogates sulfotransferase activity but does not affect 3'-phosphoadenylyl sulfate substrate binding; may be involved in polysaccharide substrate binding specificity.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "Q9Y2C2-1" }, { "start_pos": 321, "end_pos": 321, "sequence_org": "T", "sequence_mut": "R", "comment": "Severely abrogates sulfotransferase activity but does not affect 3'-phosphoadenylyl sulfate substrate binding; may be involved in polysaccharide substrate binding specificity.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" }, { "database": "PubMed", "id": "17227754", "url": "https://pubmed.ncbi.nlm.nih.gov/17227754" } ], "uniprot_canonical_ac": "Q9Y2C2-1" } ], "record_id": "pubmed.17227754", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 24 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Identification of chondroitin sulfate glucuronyltransferase as chondroitin synthase-3 involved in chondroitin polymerization: chondroitin polymerization is achieved by multiple enzyme complexes consisting of chondroitin synthase family members.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Izumikawa T, Koike T, Shiozawa S, Sugahara K, Tamura J, Kitagawa H", "reference": { "type": "PubMed", "id": "18316376", "url": "https://pubmed.ncbi.nlm.nih.gov/18316376" }, "referenced_glycans": [ { "glytoucan_ac": "G19059PI" } ], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NPF2-1", "protein_name": "Carbohydrate sulfotransferase 11", "gene_name": "CHST11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q70JA7-1", "protein_name": "Chondroitin sulfate synthase 3", "gene_name": "CHSY3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NET6-1", "protein_name": "Carbohydrate sulfotransferase 13", "gene_name": "CHST13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRB3-1", "protein_name": "Carbohydrate sulfotransferase 12", "gene_name": "CHST12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LFX5-1", "protein_name": "Carbohydrate sulfotransferase 15", "gene_name": "CHST15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86X52-1", "protein_name": "Chondroitin sulfate synthase 1", "gene_name": "CHSY1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IZ52-1", "protein_name": "Chondroitin polymerizing factor, non-catalytic subunit", "gene_name": "CHPF", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P2E5-1", "protein_name": "Chondroitin polymerizing factor 2, non-catalytic subunit", "gene_name": "CHPF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LGC8-1", "protein_name": "Carbohydrate sulfotransferase 3", "gene_name": "CHST3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NS84-1", "protein_name": "Carbohydrate sulfotransferase 7", "gene_name": "CHST7", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2C2-1", "protein_name": "Uronyl 2-sulfotransferase", "gene_name": "UST", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TDX6-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 1", "gene_name": "CSGALNACT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N6G5-1", "protein_name": "Chondroitin sulfate N-acetylgalactosaminyltransferase 2", "gene_name": "CSGALNACT2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.18316376", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 20 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "glytoucan_ac" ] }, { "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": "Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.", "journal": "American journal of human genetics", "date": "2008", "authors": "Hermanns P, Unger S, Rossi A, Perez-Aytes A, Cortina H, Bonafe L, Boccone L, Setzu V, Dutoit M, Sangiorgi L, Pecora F, Reicherter K, Nishimura G, Spranger J, Zabel B, Superti-Furga A", "reference": { "type": "PubMed", "id": "18513679", "url": "https://pubmed.ncbi.nlm.nih.gov/18513679" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LGC8-1", "protein_name": "Carbohydrate sulfotransferase 3", "gene_name": "CHST3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121908619", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908619" }, { "id": "rs121908619", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121908619" }, { "id": "18513679", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18513679" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 201, "end_pos": 201, "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "10", "chr_pos": "72007634", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y201", "disease": [ { "disease_id": "DOID:0050813", "recommended_name": { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints." }, "synonyms": [ { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Humero-spinal dysostosis with congenital heart disease", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHST3-Related Skeletal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Kozlowski Celermajer Tink syndrome", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Omani Type", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Spondyloepiphyseal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humero-spinal dysostosis", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal." }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "CHST3-related skeletal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SDCD, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with congenital joint dislocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with multiple dislocations", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Gollop Coates syndrome", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SEDCJD", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "bifurcation of distal humerus with oligoectro-syndactyly", "description": "" }, { "id": "MIM:143095", "resource": "MIM", "url": "https://www.omim.org/entry/143095", "name": "Spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "Spondyloepiphyseal dysplasia with congenital joint dislocations" } ], "unlinked_id_list": [], "evidence": [ { "id": "0007738", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738" }, { "id": "CHST3", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/CHST3/#!details" }, { "id": "9469", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/9469#disease" }, { "id": "0050813", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050813" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000000000100.00000000000000.000000000001000000.00001.10.000.001", "uniprot_canonical_ac": "Q7LGC8-1" }, { "evidence": [ { "id": "rs121908617", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908617" }, { "id": "rs121908617", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121908617#frequency_tab" }, { "id": "rs121908617", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121908617" }, { "id": "18513679", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18513679" }, { "id": "20830804", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20830804" } ], "glycoeffect": [], "start_pos": 222, "end_pos": 222, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "10", "chr_pos": "72007695", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R222", "disease": [ { "disease_id": "DOID:0050813", "recommended_name": { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints." }, "synonyms": [ { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Humero-spinal dysostosis with congenital heart disease", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHST3-Related Skeletal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Kozlowski Celermajer Tink syndrome", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Omani Type", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Spondyloepiphyseal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humero-spinal dysostosis", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal." }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "CHST3-related skeletal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SDCD, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with congenital joint dislocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with multiple dislocations", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Gollop Coates syndrome", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SEDCJD", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "bifurcation of distal humerus with oligoectro-syndactyly", "description": "" }, { "id": "MIM:143095", "resource": "MIM", "url": "https://www.omim.org/entry/143095", "name": "Spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "Spondyloepiphyseal dysplasia with congenital joint dislocations" } ], "unlinked_id_list": [], "evidence": [ { "id": "0007738", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738" }, { "id": "CHST3", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/CHST3/#!details" }, { "id": "9469", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/9469#disease" }, { "id": "0050813", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050813" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q7LGC8-1" }, { "evidence": [ { "id": "rs121908616", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908616" }, { "id": "rs121908616", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121908616" }, { "id": "15368507", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15368507" }, { "id": "18513679", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18513679" }, { "id": "20830804", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20830804" } ], "glycoeffect": [], "start_pos": 259, "end_pos": 259, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "10", "chr_pos": "72007807", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L259", "disease": [ { "disease_id": "DOID:0050813", "recommended_name": { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints." }, "synonyms": [ { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Humero-spinal dysostosis with congenital heart disease", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHST3-Related Skeletal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Kozlowski Celermajer Tink syndrome", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Omani Type", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Spondyloepiphyseal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humero-spinal dysostosis", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal." }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "CHST3-related skeletal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SDCD, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with congenital joint dislocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with multiple dislocations", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Gollop Coates syndrome", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SEDCJD", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "bifurcation of distal humerus with oligoectro-syndactyly", "description": "" }, { "id": "MIM:143095", "resource": "MIM", "url": "https://www.omim.org/entry/143095", "name": "Spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "Spondyloepiphyseal dysplasia with congenital joint dislocations" } ], "unlinked_id_list": [], "evidence": [ { "id": "0007738", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738" }, { "id": "CHST3", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/CHST3/#!details" }, { "id": "9469", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/9469#disease" }, { "id": "0050813", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050813" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q7LGC8-1" }, { "evidence": [ { "id": "rs121908618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908618" }, { "id": "rs121908618", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121908618" }, { "id": "18513679", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18513679" }, { "id": "20830804", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20830804" }, { "id": "9039660", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9039660" } ], "glycoeffect": [], "start_pos": 307, "end_pos": 307, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "10", "chr_pos": "72007951", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L307", "disease": [ { "disease_id": "DOID:0050813", "recommended_name": { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints." }, "synonyms": [ { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Humero-spinal dysostosis with congenital heart disease", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHST3-Related Skeletal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Kozlowski Celermajer Tink syndrome", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Omani Type", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Spondyloepiphyseal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humero-spinal dysostosis", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal." }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "CHST3-related skeletal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SDCD, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with congenital joint dislocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with multiple dislocations", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Gollop Coates syndrome", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SEDCJD", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "bifurcation of distal humerus with oligoectro-syndactyly", "description": "" }, { "id": "MIM:143095", "resource": "MIM", "url": "https://www.omim.org/entry/143095", "name": "Spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "Spondyloepiphyseal dysplasia with congenital joint dislocations" } ], "unlinked_id_list": [], "evidence": [ { "id": "0007738", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738" }, { "id": "CHST3", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/CHST3/#!details" }, { "id": "9469", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/9469#disease" }, { "id": "0050813", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050813" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q7LGC8-1" }, { "evidence": [ { "id": "rs1589509884", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1589509884" }, { "id": "112567", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/112567" }, { "id": "18513679", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18513679" } ], "glycoeffect": [], "start_pos": 363, "end_pos": 363, "sequence_org": "R", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "10", "chr_pos": "72008117", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R363", "disease": [ { "disease_id": "DOID:0050813", "recommended_name": { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints." }, "synonyms": [ { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Humero-spinal dysostosis with congenital heart disease", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHST3-Related Skeletal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Kozlowski Celermajer Tink syndrome", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Omani Type", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Spondyloepiphyseal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humero-spinal dysostosis", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal." }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "CHST3-related skeletal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SDCD, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with congenital joint dislocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with multiple dislocations", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Gollop Coates syndrome", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SEDCJD", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "bifurcation of distal humerus with oligoectro-syndactyly", "description": "" }, { "id": "MIM:143095", "resource": "MIM", "url": "https://www.omim.org/entry/143095", "name": "Spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "Spondyloepiphyseal dysplasia with congenital joint dislocations" } ], "unlinked_id_list": [], "evidence": [ { "id": "0007738", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738" }, { "id": "CHST3", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/CHST3/#!details" }, { "id": "9469", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/9469#disease" }, { "id": "0050813", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050813" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q7LGC8-1" }, { "evidence": [ { "id": "rs267606734", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606734" }, { "id": "rs267606734", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs267606734" }, { "id": "18513679", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18513679" } ], "glycoeffect": [], "start_pos": 372, "end_pos": 372, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "10", "chr_pos": "72008145", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E372", "disease": [ { "disease_id": "DOID:0050813", "recommended_name": { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints." }, "synonyms": [ { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Humero-spinal dysostosis with congenital heart disease", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHST3-Related Skeletal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Kozlowski Celermajer Tink syndrome", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Omani Type", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Spondyloepiphyseal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humero-spinal dysostosis", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal." }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "CHST3-related skeletal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SDCD, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with congenital joint dislocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with multiple dislocations", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Gollop Coates syndrome", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SEDCJD", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "bifurcation of distal humerus with oligoectro-syndactyly", "description": "" }, { "id": "MIM:143095", "resource": "MIM", "url": "https://www.omim.org/entry/143095", "name": "Spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "Spondyloepiphyseal dysplasia with congenital joint dislocations" } ], "unlinked_id_list": [], "evidence": [ { "id": "0007738", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738" }, { "id": "CHST3", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/CHST3/#!details" }, { "id": "9469", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/9469#disease" }, { "id": "0050813", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050813" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000001000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q7LGC8-1" } ], "record_id": "pubmed.18513679", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 8 } ], "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": "Human biglycan gene. Putative promoter, intron-exon junctions, and chromosomal localization.", "journal": "J. Biol. Chem.", "date": "1991", "authors": "Fisher LW, Heegaard AM, Vetter U, Vogel W, Just W, Termine JD, Young MF", "reference": { "type": "PubMed", "id": "1860845", "url": "https://pubmed.ncbi.nlm.nih.gov/1860845" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1860845", "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": "Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype.", "journal": "American journal of medical genetics. Part A", "date": "2008", "authors": "van Roij MH, Mizumoto S, Yamada S, Morgan T, Tan-Sindhunata MB, Meijers-Heijboer H, Verbeke JI, Markie D, Sugahara K, Robertson SP", "reference": { "type": "PubMed", "id": "18698629", "url": "https://pubmed.ncbi.nlm.nih.gov/18698629" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43916-1", "protein_name": "Carbohydrate sulfotransferase 1", "gene_name": "CHST1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LGC8-1", "protein_name": "Carbohydrate sulfotransferase 3", "gene_name": "CHST3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121908620", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908620" }, { "id": "rs121908620", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121908620" }, { "id": "18698629", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18698629" } ], "glycoeffect": [], "start_pos": 286, "end_pos": 286, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "10", "chr_pos": "72007888", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L286", "disease": [ { "disease_id": "DOID:0050813", "recommended_name": { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints." }, "synonyms": [ { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Humero-spinal dysostosis with congenital heart disease", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHST3-Related Skeletal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Kozlowski Celermajer Tink syndrome", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Omani Type", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Spondyloepiphyseal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humero-spinal dysostosis", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal." }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "CHST3-related skeletal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SDCD, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with congenital joint dislocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with multiple dislocations", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Gollop Coates syndrome", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SEDCJD", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "bifurcation of distal humerus with oligoectro-syndactyly", "description": "" }, { "id": "MIM:143095", "resource": "MIM", "url": "https://www.omim.org/entry/143095", "name": "Spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "Spondyloepiphyseal dysplasia with congenital joint dislocations" } ], "unlinked_id_list": [], "evidence": [ { "id": "0007738", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738" }, { "id": "CHST3", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/CHST3/#!details" }, { "id": "9469", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/9469#disease" }, { "id": "0050813", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050813" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q7LGC8-1" } ], "record_id": "pubmed.18698629", "abstract": "", "glycosylation": [], "mutagenesis": [], "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": "Two dermatan sulfate epimerases form iduronic acid domains in dermatan sulfate.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Pacheco B, Malmstrom A, Maccarana M", "reference": { "type": "PubMed", "id": "19188366", "url": "https://pubmed.ncbi.nlm.nih.gov/19188366" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NCH0-1", "protein_name": "Carbohydrate sulfotransferase 14", "gene_name": "CHST14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LFX5-1", "protein_name": "Carbohydrate sulfotransferase 15", "gene_name": "CHST15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UL01-1", "protein_name": "Dermatan-sulfate epimerase", "gene_name": "DSE", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2C2-1", "protein_name": "Uronyl 2-sulfotransferase", "gene_name": "UST", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IZU8-1", "protein_name": "Dermatan-sulfate epimerase-like protein", "gene_name": "DSEL", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.19188366", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 12 } ], "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 and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).", "journal": "Human mutation", "date": "2009", "authors": "Tomatsu S, Montano AM, Dung VC, Grubb JH, Sly WS", "reference": { "type": "PubMed", "id": "19224584", "url": "https://pubmed.ncbi.nlm.nih.gov/19224584" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P22304-1", "protein_name": "Iduronate 2-sulfatase", "gene_name": "IDS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P35475-1", "protein_name": "Alpha-L-iduronidase", "gene_name": "IDUA", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06865-1", "protein_name": "Beta-hexosaminidase subunit alpha", "gene_name": "HEXA", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07686-1", "protein_name": "Beta-hexosaminidase subunit beta", "gene_name": "HEXB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15848-1", "protein_name": "Arylsulfatase B", "gene_name": "ARSB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16278-1", "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43820-1", "protein_name": "Hyaluronidase-3", "gene_name": "HYAL3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IW92-1", "protein_name": "Beta-galactosidase-1-like protein 2", "gene_name": "GLB1L2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NCI6-1", "protein_name": "Beta-galactosidase-1-like protein 3", "gene_name": "GLB1L3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08236-1", "protein_name": "Beta-glucuronidase", "gene_name": "GUSB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2M3T9-1", "protein_name": "Hyaluronidase-4", "gene_name": "HYAL4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12794-1", "protein_name": "Hyaluronidase-1", "gene_name": "HYAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UWU2-1", "protein_name": "Beta-galactosidase-1-like protein", "gene_name": "GLB1L", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.19224584", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 20 } ], "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": "Dermatan 4-O-sulfotransferase 1 is pivotal in the formation of iduronic acid blocks in dermatan sulfate.", "journal": "Glycobiology", "date": "2009", "authors": "Pacheco B, Maccarana M, Malmstrom A", "reference": { "type": "PubMed", "id": "19661164", "url": "https://pubmed.ncbi.nlm.nih.gov/19661164" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NCH0-1", "protein_name": "Carbohydrate sulfotransferase 14", "gene_name": "CHST14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LFX5-1", "protein_name": "Carbohydrate sulfotransferase 15", "gene_name": "CHST15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UL01-1", "protein_name": "Dermatan-sulfate epimerase", "gene_name": "DSE", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2C2-1", "protein_name": "Uronyl 2-sulfotransferase", "gene_name": "UST", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IZU8-1", "protein_name": "Dermatan-sulfate epimerase-like protein", "gene_name": "DSEL", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.19661164", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 12 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Identification of human hyaluronidase-4 as a novel chondroitin sulfate hydrolase that preferentially cleaves the galactosaminidic linkage in the trisulfated tetrasaccharide sequence.", "journal": "Glycobiology", "date": "2010", "authors": "Kaneiwa T, Mizumoto S, Sugahara K, Yamada S", "reference": { "type": "PubMed", "id": "19889881", "url": "https://pubmed.ncbi.nlm.nih.gov/19889881" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P22304-1", "protein_name": "Iduronate 2-sulfatase", "gene_name": "IDS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P35475-1", "protein_name": "Alpha-L-iduronidase", "gene_name": "IDUA", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06865-1", "protein_name": "Beta-hexosaminidase subunit alpha", "gene_name": "HEXA", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07686-1", "protein_name": "Beta-hexosaminidase subunit beta", "gene_name": "HEXB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15848-1", "protein_name": "Arylsulfatase B", "gene_name": "ARSB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16278-1", "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43820-1", "protein_name": "Hyaluronidase-3", "gene_name": "HYAL3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IW92-1", "protein_name": "Beta-galactosidase-1-like protein 2", "gene_name": "GLB1L2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NCI6-1", "protein_name": "Beta-galactosidase-1-like protein 3", "gene_name": "GLB1L3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08236-1", "protein_name": "Beta-glucuronidase", "gene_name": "GUSB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2M3T9-1", "protein_name": "Hyaluronidase-4", "gene_name": "HYAL4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12794-1", "protein_name": "Hyaluronidase-1", "gene_name": "HYAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UWU2-1", "protein_name": "Beta-galactosidase-1-like protein", "gene_name": "GLB1L", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.19889881", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 20 } ], "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": "Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.", "journal": "American journal of human genetics", "date": "2009", "authors": "Dundar M, Muller T, Zhang Q, Pan J, Steinmann B, Vodopiutz J, Gruber R, Sonoda T, Krabichler B, Utermann G, Baenziger JU, Zhang L, Janecke AR", "reference": { "type": "PubMed", "id": "20004762", "url": "https://pubmed.ncbi.nlm.nih.gov/20004762" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NCH0-1", "protein_name": "Carbohydrate sulfotransferase 14", "gene_name": "CHST14", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs267606727", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606727" }, { "id": "rs267606727", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs267606727" }, { "id": "11666007", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11666007" }, { "id": "20004762", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20004762" } ], "glycoeffect": [], "start_pos": 135, "end_pos": 135, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "15", "chr_pos": "40471616", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R135", "disease": [ { "disease_id": "DOID:0080736", "recommended_name": { "id": "DOID:0080736", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080736", "name": "Ehlers-Danlos syndrome musculocontractural type 1", "description": "An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14." }, "synonyms": [ { "id": "MONDO:0020681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020681", "name": "Ehlers-Danlos syndrome, musculocontractural type 1", "description": "" }, { "id": "MONDO:0020681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020681", "name": "EDSMC", "description": "" }, { "id": "MONDO:0020681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020681", "name": "EDSMC1", "description": "" }, { "id": "MIM:601776", "resource": "MIM", "url": "https://www.omim.org/entry/601776", "name": "Ehlers-Danlos syndrome, musculocontractural type 1", "description": "Ehlers-Danlos syndrome, musculocontractural type 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "601776", "database": "MIM", "url": "https://www.omim.org/entry/601776" }, { "id": "CHST14", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/CHST14/#!details" }, { "id": "113189", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/113189#disease" }, { "id": "0080736", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080736" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q8NCH0-1" }, { "evidence": [ { "id": "rs267606728", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606728" }, { "id": "rs267606728", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs267606728" }, { "id": "11666007", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11666007" }, { "id": "20004762", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20004762" } ], "glycoeffect": [], "start_pos": 137, "end_pos": 137, "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "15", "chr_pos": "40471623", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L137", "disease": [ { "disease_id": "DOID:0080736", "recommended_name": { "id": "DOID:0080736", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080736", "name": "Ehlers-Danlos syndrome musculocontractural type 1", "description": "An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14." }, "synonyms": [ { "id": "MONDO:0020681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020681", "name": "Ehlers-Danlos syndrome, musculocontractural type 1", "description": "" }, { "id": "MONDO:0020681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020681", "name": "EDSMC", "description": "" }, { "id": "MONDO:0020681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020681", "name": "EDSMC1", "description": "" }, { "id": "MIM:601776", "resource": "MIM", "url": "https://www.omim.org/entry/601776", "name": "Ehlers-Danlos syndrome, musculocontractural type 1", "description": "Ehlers-Danlos syndrome, musculocontractural type 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "601776", "database": "MIM", "url": "https://www.omim.org/entry/601776" }, { "id": "CHST14", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/CHST14/#!details" }, { "id": "113189", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/113189#disease" }, { "id": "0080736", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080736" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "Q8NCH0-1" }, { "evidence": [ { "id": "rs121908257", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908257" }, { "id": "rs121908257", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908257" }, { "id": "rs121908257", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121908257#frequency_tab" }, { "id": "rs121908257", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121908257" }, { "id": "11370633", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11370633" }, { "id": "20004762", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20004762" }, { "id": "26373698", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/26373698" } ], "glycoeffect": [], "start_pos": 213, "end_pos": 213, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "15", "chr_pos": "40471851", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R213", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080736", "recommended_name": { "id": "DOID:0080736", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080736", "name": "Ehlers-Danlos syndrome musculocontractural type 1", "description": "An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14." }, "synonyms": [ { "id": "MONDO:0020681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020681", "name": "Ehlers-Danlos syndrome, musculocontractural type 1", "description": "" }, { "id": "MONDO:0020681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020681", "name": "EDSMC", "description": "" }, { "id": "MONDO:0020681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020681", "name": "EDSMC1", "description": "" }, { "id": "MIM:601776", "resource": "MIM", "url": "https://www.omim.org/entry/601776", "name": "Ehlers-Danlos syndrome, musculocontractural type 1", "description": "Ehlers-Danlos syndrome, musculocontractural type 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "601776", "database": "MIM", "url": "https://www.omim.org/entry/601776" }, { "id": "CHST14", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/CHST14/#!details" }, { "id": "113189", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/113189#disease" }, { "id": "0080736", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080736" } ] } ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "Q8NCH0-1" }, { "evidence": [ { "id": "rs121908258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908258" }, { "id": "rs121908258", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121908258" }, { "id": "rs121908258", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908258" }, { "id": "rs121908258", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121908258#frequency_tab" }, { "id": "rs121908258", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121908258" }, { "id": "10766984", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10766984" }, { "id": "20004762", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20004762" }, { "id": "20533528", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20533528" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 293, "end_pos": 293, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "15", "chr_pos": "40472091", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y293", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080736", "recommended_name": { "id": "DOID:0080736", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080736", "name": "Ehlers-Danlos syndrome musculocontractural type 1", "description": "An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14." }, "synonyms": [ { "id": "MONDO:0020681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020681", "name": "Ehlers-Danlos syndrome, musculocontractural type 1", "description": "" }, { "id": "MONDO:0020681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020681", "name": "EDSMC", "description": "" }, { "id": "MONDO:0020681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020681", "name": "EDSMC1", "description": "" }, { "id": "MIM:601776", "resource": "MIM", "url": "https://www.omim.org/entry/601776", "name": "Ehlers-Danlos syndrome, musculocontractural type 1", "description": "Ehlers-Danlos syndrome, musculocontractural type 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "601776", "database": "MIM", "url": "https://www.omim.org/entry/601776" }, { "id": "CHST14", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/CHST14/#!details" }, { "id": "113189", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/113189#disease" }, { "id": "0080736", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080736" } ] } ], "filter_code": "000000000000000000100.00000000000000.000000000001000000.00001.10.000.001", "uniprot_canonical_ac": "Q8NCH0-1" } ], "record_id": "pubmed.20004762", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 8 } ], "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": "Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.", "journal": "Human mutation", "date": "2010", "authors": "Miyake N, Kosho T, Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y, Arai E, Takahashi K, Kawamura R, Wakui K, Takahashi J, Kato H, Yasui H, Ishida T, Ohashi H, Nishimura G, Shiina M, Saitsu H, Tsurusaki Y, Doi H, Fukushima Y, Ikegawa S, Yamada S, Sugahara K, Matsumoto N", "reference": { "type": "PubMed", "id": "20533528", "url": "https://pubmed.ncbi.nlm.nih.gov/20533528" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NCH0-1", "protein_name": "Carbohydrate sulfotransferase 14", "gene_name": "CHST14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LFX5-1", "protein_name": "Carbohydrate sulfotransferase 15", "gene_name": "CHST15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UL01-1", "protein_name": "Dermatan-sulfate epimerase", "gene_name": "DSE", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2C2-1", "protein_name": "Uronyl 2-sulfotransferase", "gene_name": "UST", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IZU8-1", "protein_name": "Dermatan-sulfate epimerase-like protein", "gene_name": "DSEL", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs267606729", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606729" }, { "id": "rs267606729", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs267606729" }, { "id": "12508273", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12508273" }, { "id": "16158441", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16158441" }, { "id": "20503305", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20503305" }, { "id": "20533528", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20533528" } ], "glycoeffect": [], "start_pos": 281, "end_pos": 281, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "15", "chr_pos": "40472055", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P281", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080736", "recommended_name": { "id": "DOID:0080736", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080736", "name": "Ehlers-Danlos syndrome musculocontractural type 1", "description": "An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14." }, "synonyms": [ { "id": "MONDO:0020681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020681", "name": "Ehlers-Danlos syndrome, musculocontractural type 1", "description": "" }, { "id": "MONDO:0020681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020681", "name": "EDSMC", "description": "" }, { "id": "MONDO:0020681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020681", "name": "EDSMC1", "description": "" }, { "id": "MIM:601776", "resource": "MIM", "url": "https://www.omim.org/entry/601776", "name": "Ehlers-Danlos syndrome, musculocontractural type 1", "description": "Ehlers-Danlos syndrome, musculocontractural type 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "601776", "database": "MIM", "url": "https://www.omim.org/entry/601776" }, { "id": "CHST14", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/CHST14/#!details" }, { "id": "113189", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/113189#disease" }, { "id": "0080736", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080736" } ] } ], "filter_code": "000000000000001000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q8NCH0-1" }, { "evidence": [ { "id": "rs267606731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606731" }, { "id": "rs267606731", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs267606731" }, { "id": "20503305", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20503305" }, { "id": "20533528", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20533528" } ], "glycoeffect": [], "start_pos": 289, "end_pos": 289, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "15", "chr_pos": "40472079", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C289", "disease": [ { "disease_id": "DOID:0080736", "recommended_name": { "id": "DOID:0080736", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080736", "name": "Ehlers-Danlos syndrome musculocontractural type 1", "description": "An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14." }, "synonyms": [ { "id": "MONDO:0020681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020681", "name": "Ehlers-Danlos syndrome, musculocontractural type 1", "description": "" }, { "id": "MONDO:0020681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020681", "name": "EDSMC", "description": "" }, { "id": "MONDO:0020681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020681", "name": "EDSMC1", "description": "" }, { "id": "MIM:601776", "resource": "MIM", "url": "https://www.omim.org/entry/601776", "name": "Ehlers-Danlos syndrome, musculocontractural type 1", "description": "Ehlers-Danlos syndrome, musculocontractural type 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "601776", "database": "MIM", "url": "https://www.omim.org/entry/601776" }, { "id": "CHST14", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/CHST14/#!details" }, { "id": "113189", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/113189#disease" }, { "id": "0080736", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080736" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000010000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q8NCH0-1" }, { "evidence": [ { "id": "rs121908258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908258" }, { "id": "rs121908258", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121908258" }, { "id": "rs121908258", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908258" }, { "id": "rs121908258", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121908258#frequency_tab" }, { "id": "rs121908258", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121908258" }, { "id": "10766984", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10766984" }, { "id": "20004762", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20004762" }, { "id": "20533528", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20533528" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 293, "end_pos": 293, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "15", "chr_pos": "40472091", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y293", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080736", "recommended_name": { "id": "DOID:0080736", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080736", "name": "Ehlers-Danlos syndrome musculocontractural type 1", "description": "An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14." }, "synonyms": [ { "id": "MONDO:0020681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020681", "name": "Ehlers-Danlos syndrome, musculocontractural type 1", "description": "" }, { "id": "MONDO:0020681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020681", "name": "EDSMC", "description": "" }, { "id": "MONDO:0020681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020681", "name": "EDSMC1", "description": "" }, { "id": "MIM:601776", "resource": "MIM", "url": "https://www.omim.org/entry/601776", "name": "Ehlers-Danlos syndrome, musculocontractural type 1", "description": "Ehlers-Danlos syndrome, musculocontractural type 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "601776", "database": "MIM", "url": "https://www.omim.org/entry/601776" }, { "id": "CHST14", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/CHST14/#!details" }, { "id": "113189", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/113189#disease" }, { "id": "0080736", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080736" } ] } ], "filter_code": "000000000000000000100.00000000000000.000000000001000000.00001.10.000.001", "uniprot_canonical_ac": "Q8NCH0-1" }, { "evidence": [ { "id": "rs267606730", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606730" }, { "id": "rs267606730", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs267606730" }, { "id": "12508273", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12508273" }, { "id": "20533528", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20533528" } ], "glycoeffect": [], "start_pos": 69, "end_pos": 69, "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "15", "chr_pos": "40471418", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K69", "disease": [ { "disease_id": "DOID:0080736", "recommended_name": { "id": "DOID:0080736", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080736", "name": "Ehlers-Danlos syndrome musculocontractural type 1", "description": "An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14." }, "synonyms": [ { "id": "MONDO:0020681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020681", "name": "Ehlers-Danlos syndrome, musculocontractural type 1", "description": "" }, { "id": "MONDO:0020681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020681", "name": "EDSMC", "description": "" }, { "id": "MONDO:0020681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020681", "name": "EDSMC1", "description": "" }, { "id": "MIM:601776", "resource": "MIM", "url": "https://www.omim.org/entry/601776", "name": "Ehlers-Danlos syndrome, musculocontractural type 1", "description": "Ehlers-Danlos syndrome, musculocontractural type 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "601776", "database": "MIM", "url": "https://www.omim.org/entry/601776" }, { "id": "CHST14", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/CHST14/#!details" }, { "id": "113189", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/113189#disease" }, { "id": "0080736", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080736" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000001000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q8NCH0-1" } ], "record_id": "pubmed.20533528", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 12 } ], "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": "Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.", "journal": "American journal of medical genetics. Part A", "date": "2010", "authors": "Unger S, Lausch E, Rossi A, Megarbane A, Sillence D, Alcausin M, Aytes A, Mendoza-Londono R, Nampoothiri S, Afroze B, Hall B, Lo IF, Lam ST, Hoefele J, Rost I, Wakeling E, Mangold E, Godbole K, Vatanavicharn N, Franco LM, Chandler K, Hollander S, Velten T, Reicherter K, Spranger J, Robertson S, Bonafe L, Zabel B, Superti-Furga A", "reference": { "type": "PubMed", "id": "20830804", "url": "https://pubmed.ncbi.nlm.nih.gov/20830804" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P21810-1", "protein_name": "Biglycan", "gene_name": "BGN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LGC8-1", "protein_name": "Carbohydrate sulfotransferase 3", "gene_name": "CHST3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95196-1", "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UVK1-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13611-1", "protein_name": "Versican core protein", "gene_name": "VCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07585-1", "protein_name": "Decorin", "gene_name": "DCN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96GW7-1", "protein_name": "Brevican core protein", "gene_name": "BCAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14594-1", "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P21810", "url": "https://www.uniprot.org/uniprotkb/P21810" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs145538723", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145538723" }, { "id": "rs145538723", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145538723" }, { "id": "rs145538723", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs145538723#frequency_tab" }, { "id": "rs145538723", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs145538723" }, { "id": "20830804", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20830804" }, { "id": "9039660", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9039660" } ], "glycoeffect": [], "start_pos": 159, "end_pos": 159, "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "10", "chr_pos": "72007506", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F159", "disease": [ { "disease_id": "DOID:0050813", "recommended_name": { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints." }, "synonyms": [ { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Humero-spinal dysostosis with congenital heart disease", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHST3-Related Skeletal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Kozlowski Celermajer Tink syndrome", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Omani Type", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Spondyloepiphyseal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humero-spinal dysostosis", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal." }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "CHST3-related skeletal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SDCD, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with congenital joint dislocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with multiple dislocations", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Gollop Coates syndrome", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SEDCJD", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "bifurcation of distal humerus with oligoectro-syndactyly", "description": "" }, { "id": "MIM:143095", "resource": "MIM", "url": "https://www.omim.org/entry/143095", "name": "Spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "Spondyloepiphyseal dysplasia with congenital joint dislocations" } ], "unlinked_id_list": [], "evidence": [ { "id": "0007738", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738" }, { "id": "CHST3", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/CHST3/#!details" }, { "id": "9469", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/9469#disease" }, { "id": "0050813", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050813" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000010000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q7LGC8-1" }, { "evidence": [ { "id": "rs267606733", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606733" }, { "id": "rs267606733", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs267606733#frequency_tab" }, { "id": "rs267606733", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs267606733" }, { "id": "20830804", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20830804" } ], "glycoeffect": [], "start_pos": 161, "end_pos": 161, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "10", "chr_pos": "72007512", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L161", "disease": [ { "disease_id": "DOID:0050813", "recommended_name": { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints." }, "synonyms": [ { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Humero-spinal dysostosis with congenital heart disease", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHST3-Related Skeletal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Kozlowski Celermajer Tink syndrome", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Omani Type", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Spondyloepiphyseal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humero-spinal dysostosis", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal." }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "CHST3-related skeletal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SDCD, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with congenital joint dislocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with multiple dislocations", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Gollop Coates syndrome", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SEDCJD", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "bifurcation of distal humerus with oligoectro-syndactyly", "description": "" }, { "id": "MIM:143095", "resource": "MIM", "url": "https://www.omim.org/entry/143095", "name": "Spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "Spondyloepiphyseal dysplasia with congenital joint dislocations" } ], "unlinked_id_list": [], "evidence": [ { "id": "0007738", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738" }, { "id": "CHST3", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/CHST3/#!details" }, { "id": "9469", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/9469#disease" }, { "id": "0050813", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050813" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q7LGC8-1" }, { "evidence": [ { "id": "rs121908617", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908617" }, { "id": "rs121908617", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121908617#frequency_tab" }, { "id": "rs121908617", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121908617" }, { "id": "18513679", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18513679" }, { "id": "20830804", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20830804" } ], "glycoeffect": [], "start_pos": 222, "end_pos": 222, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "10", "chr_pos": "72007695", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R222", "disease": [ { "disease_id": "DOID:0050813", "recommended_name": { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints." }, "synonyms": [ { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Humero-spinal dysostosis with congenital heart disease", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHST3-Related Skeletal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Kozlowski Celermajer Tink syndrome", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Omani Type", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Spondyloepiphyseal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humero-spinal dysostosis", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal." }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "CHST3-related skeletal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SDCD, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with congenital joint dislocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with multiple dislocations", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Gollop Coates syndrome", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SEDCJD", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "bifurcation of distal humerus with oligoectro-syndactyly", "description": "" }, { "id": "MIM:143095", "resource": "MIM", "url": "https://www.omim.org/entry/143095", "name": "Spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "Spondyloepiphyseal dysplasia with congenital joint dislocations" } ], "unlinked_id_list": [], "evidence": [ { "id": "0007738", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738" }, { "id": "CHST3", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/CHST3/#!details" }, { "id": "9469", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/9469#disease" }, { "id": "0050813", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050813" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q7LGC8-1" }, { "evidence": [ { "id": "rs121908616", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908616" }, { "id": "rs121908616", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121908616" }, { "id": "15368507", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15368507" }, { "id": "18513679", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18513679" }, { "id": "20830804", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20830804" } ], "glycoeffect": [], "start_pos": 259, "end_pos": 259, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "10", "chr_pos": "72007807", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L259", "disease": [ { "disease_id": "DOID:0050813", "recommended_name": { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints." }, "synonyms": [ { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Humero-spinal dysostosis with congenital heart disease", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHST3-Related Skeletal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Kozlowski Celermajer Tink syndrome", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Omani Type", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Spondyloepiphyseal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humero-spinal dysostosis", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal." }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "CHST3-related skeletal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SDCD, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with congenital joint dislocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with multiple dislocations", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Gollop Coates syndrome", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SEDCJD", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "bifurcation of distal humerus with oligoectro-syndactyly", "description": "" }, { "id": "MIM:143095", "resource": "MIM", "url": "https://www.omim.org/entry/143095", "name": "Spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "Spondyloepiphyseal dysplasia with congenital joint dislocations" } ], "unlinked_id_list": [], "evidence": [ { "id": "0007738", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738" }, { "id": "CHST3", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/CHST3/#!details" }, { "id": "9469", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/9469#disease" }, { "id": "0050813", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050813" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q7LGC8-1" }, { "evidence": [ { "id": "rs121908618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908618" }, { "id": "rs121908618", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121908618" }, { "id": "18513679", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18513679" }, { "id": "20830804", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20830804" }, { "id": "9039660", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9039660" } ], "glycoeffect": [], "start_pos": 307, "end_pos": 307, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "10", "chr_pos": "72007951", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L307", "disease": [ { "disease_id": "DOID:0050813", "recommended_name": { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints." }, "synonyms": [ { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Humero-spinal dysostosis with congenital heart disease", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHST3-Related Skeletal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Kozlowski Celermajer Tink syndrome", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Omani Type", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Spondyloepiphyseal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humero-spinal dysostosis", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal." }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "CHST3-related skeletal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SDCD, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with congenital joint dislocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with multiple dislocations", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Gollop Coates syndrome", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SEDCJD", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "bifurcation of distal humerus with oligoectro-syndactyly", "description": "" }, { "id": "MIM:143095", "resource": "MIM", "url": "https://www.omim.org/entry/143095", "name": "Spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "Spondyloepiphyseal dysplasia with congenital joint dislocations" } ], "unlinked_id_list": [], "evidence": [ { "id": "0007738", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738" }, { "id": "CHST3", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/CHST3/#!details" }, { "id": "9469", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/9469#disease" }, { "id": "0050813", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050813" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q7LGC8-1" }, { "evidence": [ { "id": "rs267606732", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606732" }, { "id": "rs267606732", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606732" }, { "id": "20830804", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20830804" } ], "glycoeffect": [], "start_pos": 330, "end_pos": 330, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "10", "chr_pos": "72008019", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q330", "disease": [ { "disease_id": "DOID:0050813", "recommended_name": { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints." }, "synonyms": [ { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Humero-spinal dysostosis with congenital heart disease", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHST3-Related Skeletal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Kozlowski Celermajer Tink syndrome", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Omani Type", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Spondyloepiphyseal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humero-spinal dysostosis", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal." }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "CHST3-related skeletal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SDCD, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with congenital joint dislocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with multiple dislocations", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Gollop Coates syndrome", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SEDCJD", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "bifurcation of distal humerus with oligoectro-syndactyly", "description": "" }, { "id": "MIM:143095", "resource": "MIM", "url": "https://www.omim.org/entry/143095", "name": "Spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "Spondyloepiphyseal dysplasia with congenital joint dislocations" } ], "unlinked_id_list": [], "evidence": [ { "id": "0007738", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738" }, { "id": "CHST3", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/CHST3/#!details" }, { "id": "9469", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/9469#disease" }, { "id": "0050813", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050813" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000100000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q7LGC8-1" } ], "record_id": "pubmed.20830804", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 8 } ], "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": [] } ] } ]