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"Science", "date": "1984", "authors": "Ramasharma K, Sairam M R, Seidah N G, Chr\u00e9tien M, Manjunath P, Schiller P W, Yamashiro D, Li C H", "reference": { "type": "PubMed", "id": "6422553", "url": "https://pubmed.ncbi.nlm.nih.gov/6422553" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04279-1", "protein_name": "Semenogelin-1", "gene_name": "SEMG1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04279", "url": "https://www.uniprot.org/uniprotkb/P04279" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.6422553", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", 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J. Biochem.", "date": "1993", "authors": "Khan Z, Smyth D G", "reference": { "type": "PubMed", "id": "8444163", "url": "https://pubmed.ncbi.nlm.nih.gov/8444163" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04279-1", "protein_name": "Semenogelin-1", "gene_name": "SEMG1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04279", "url": "https://www.uniprot.org/uniprotkb/P04279" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8444163", "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", 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"o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation.", "journal": "Science (New York, N.Y.)", "date": "1999", "authors": "Keppler OT, Hinderlich S, Langner J, Schwartz-Albiez R, Reutter W, Pawlita M", "reference": { "type": "PubMed", "id": "10334995", "url": "https://pubmed.ncbi.nlm.nih.gov/10334995" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P78382-1", "protein_name": "CMP-sialic acid transporter", "gene_name": "SLC35A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15466-1", "protein_name": "Alpha-2,8-sialyltransferase 8E", "gene_name": "ST8SIA5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BXD5-1", "protein_name": "N-acetylneuraminate lyase", "gene_name": "NPL", "tax_name": "Human" }, { "uniprot_canonical_ac": "O35826-1", "protein_name": "Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase", "gene_name": "Gne", "tax_name": 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"table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 34 } ], "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": 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"field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Cloning, expression, and chromosomal mapping of a human ganglioside sialidase.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Wada T, Yoshikawa Y, Tokuyama S, Kuwabara M, Akita H, Miyagi T", "reference": { "type": "PubMed", "id": "10405317", "url": "https://pubmed.ncbi.nlm.nih.gov/10405317" }, "referenced_glycans": [], 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[] } ] }, { "title": "Primary structure and expression analysis of human UDP-N-acetyl-glucosamine-2-epimerase/N-acetylmannosamine kinase, the bifunctional enzyme in neuraminic acid biosynthesis.", "journal": "FEBS letters", "date": "1999", "authors": "Lucka L, Krause M, Danker K, Reutter W, Horstkorte R", "reference": { "type": "PubMed", "id": "10431835", "url": "https://pubmed.ncbi.nlm.nih.gov/10431835" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P78382-1", "protein_name": "CMP-sialic acid transporter", "gene_name": "SLC35A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15466-1", "protein_name": "Alpha-2,8-sialyltransferase 8E", "gene_name": "ST8SIA5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BXD5-1", "protein_name": "N-acetylneuraminate lyase", "gene_name": "NPL", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRA2-1", "protein_name": "Sialin", "gene_name": "SLC17A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TBE9-1", "protein_name": "N-acylneuraminate-9-phosphatase", "gene_name": "NANP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UQ49-1", "protein_name": "Sialidase-3", "gene_name": "NEU3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y3R4-1", "protein_name": "Sialidase-2", "gene_name": "NEU2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10619-1", "protein_name": "Lysosomal protective protein", "gene_name": "CTSA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11201-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1", "gene_name": "ST3GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NSC7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1", "gene_name": "ST6GALNAC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11206-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4", "gene_name": "ST3GAL4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NDV1-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3", "gene_name": "ST6GALNAC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16842-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2", "gene_name": "ST3GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UJ37-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2", "gene_name": "ST6GALNAC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15907-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 1", "gene_name": "ST6GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UNP4-1", "protein_name": "Lactosylceramide alpha-2,3-sialyltransferase", "gene_name": "ST3GAL5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92185-1", "protein_name": "Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase", "gene_name": "ST8SIA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92186-1", "protein_name": "Alpha-2,8-sialyltransferase 8B", "gene_name": "ST8SIA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BVH7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5", "gene_name": "ST6GALNAC5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11203-1", "protein_name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase", "gene_name": "ST3GAL3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q969X2-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6", "gene_name": "ST6GALNAC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96JF0-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 2", "gene_name": "ST6GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H4F1-1", "protein_name": "Alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase", "gene_name": "ST6GALNAC4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16278-1", "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y274-1", "protein_name": "Type 2 lactosamine alpha-2,3-sialyltransferase", "gene_name": "ST3GAL6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61647-1", "protein_name": "Alpha-2,8-sialyltransferase 8F", "gene_name": "ST8SIA6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92187-1", "protein_name": "CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase", "gene_name": "ST8SIA4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43173-1", "protein_name": "Alpha-N-acetylneuraminate alpha-2,8-sialyltransferase ST8SIA3", "gene_name": "ST8SIA3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NR45-1", "protein_name": "N-acetylneuraminate-9-phosphate synthase", "gene_name": "NANS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99519-1", "protein_name": "Sialidase-1", "gene_name": "NEU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WWR8-1", "protein_name": "Sialidase-4", "gene_name": "NEU4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y223-1", "protein_name": "Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase", "gene_name": "GNE", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NFW8-1", "protein_name": "N-acylneuraminate cytidylyltransferase", "gene_name": "CMAS", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P78382", "url": "https://www.uniprot.org/uniprotkb/P78382" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10431835", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 33 } ], "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": "Cloning and expression of a human gene encoding an N-acetylgalactosamine-alpha2,6-sialyltransferase (ST6GalNAc I): a candidate for synthesis of cancer-associated sialyl-Tn antigens.", "journal": "Glycobiology", "date": "1999", "authors": "Ikehara Y, Kojima N, Kurosawa N, Kudo T, Kono M, Nishihara S, Issiki S, Morozumi K, Itzkowitz S, Tsuda T, Nishimura SI, Tsuji S, Narimatsu H", "reference": { "type": "PubMed", "id": "10536037", "url": "https://pubmed.ncbi.nlm.nih.gov/10536037" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P78382-1", "protein_name": "CMP-sialic acid transporter", "gene_name": "SLC35A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15466-1", "protein_name": "Alpha-2,8-sialyltransferase 8E", "gene_name": "ST8SIA5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BXD5-1", "protein_name": "N-acetylneuraminate lyase", "gene_name": "NPL", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRA2-1", "protein_name": "Sialin", "gene_name": "SLC17A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TBE9-1", "protein_name": "N-acylneuraminate-9-phosphatase", "gene_name": "NANP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UQ49-1", "protein_name": "Sialidase-3", "gene_name": "NEU3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y3R4-1", "protein_name": "Sialidase-2", "gene_name": "NEU2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10619-1", "protein_name": "Lysosomal protective protein", "gene_name": "CTSA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11201-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1", "gene_name": "ST3GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NSC7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1", "gene_name": "ST6GALNAC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11206-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4", "gene_name": "ST3GAL4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NDV1-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3", "gene_name": "ST6GALNAC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16842-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2", "gene_name": "ST3GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UJ37-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2", "gene_name": "ST6GALNAC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15907-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 1", "gene_name": "ST6GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UNP4-1", "protein_name": "Lactosylceramide alpha-2,3-sialyltransferase", "gene_name": "ST3GAL5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92185-1", "protein_name": "Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase", "gene_name": "ST8SIA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92186-1", "protein_name": "Alpha-2,8-sialyltransferase 8B", "gene_name": "ST8SIA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BVH7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5", "gene_name": "ST6GALNAC5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11203-1", "protein_name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase", "gene_name": "ST3GAL3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q969X2-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6", "gene_name": "ST6GALNAC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96JF0-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 2", "gene_name": "ST6GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H4F1-1", "protein_name": "Alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase", "gene_name": "ST6GALNAC4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16278-1", "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y274-1", "protein_name": "Type 2 lactosamine alpha-2,3-sialyltransferase", "gene_name": "ST3GAL6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61647-1", "protein_name": "Alpha-2,8-sialyltransferase 8F", "gene_name": "ST8SIA6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92187-1", "protein_name": "CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase", "gene_name": "ST8SIA4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43173-1", "protein_name": "Alpha-N-acetylneuraminate alpha-2,8-sialyltransferase ST8SIA3", "gene_name": "ST8SIA3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NR45-1", "protein_name": "N-acetylneuraminate-9-phosphate synthase", "gene_name": "NANS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99519-1", "protein_name": "Sialidase-1", "gene_name": "NEU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WWR8-1", "protein_name": "Sialidase-4", "gene_name": "NEU4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y223-1", "protein_name": "Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase", "gene_name": "GNE", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NFW8-1", "protein_name": "N-acylneuraminate cytidylyltransferase", "gene_name": "CMAS", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P78382", "url": "https://www.uniprot.org/uniprotkb/P78382" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10536037", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 33 } ], "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 mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD).", "journal": "Human molecular genetics", "date": "1999", "authors": "Kondo-Iida E, Kobayashi K, Watanabe M, Sasaki J, Kumagai T, Koide H, Saito K, Osawa M, Nakamura Y, Toda T", "reference": { "type": "PubMed", "id": "10545611", "url": "https://pubmed.ncbi.nlm.nih.gov/10545611" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P78382-1", "protein_name": "CMP-sialic acid transporter", "gene_name": "SLC35A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43529-1", "protein_name": "Carbohydrate sulfotransferase 10", "gene_name": "CHST10", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75072-1", "protein_name": "Ribitol-5-phosphate transferase FKTN", "gene_name": "FKTN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H9S5-1", "protein_name": "Ribitol 5-phosphate transferase FKRP", "gene_name": "FKRP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96G79-1", "protein_name": "Probable UDP-sugar transporter protein SLC35A4", "gene_name": "SLC35A4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43505-1", "protein_name": "Beta-1,4-glucuronyltransferase 1", "gene_name": "B4GAT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N3Y3-1", "protein_name": "Xylosyl- and glucuronyltransferase LARGE2", "gene_name": "LARGE2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14118-1", "protein_name": "Dystroglycan 1", "gene_name": "DAG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WZA1-1", "protein_name": "Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1", "gene_name": "POMGNT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95461-1", "protein_name": "Xylosyl- and glucuronyltransferase LARGE1", "gene_name": "LARGE1", "tax_name": "Human" }, { "uniprot_canonical_ac": "A4D126-1", "protein_name": "D-ribitol-5-phosphate cytidylyltransferase", "gene_name": 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], "glycoeffect": [], "start_pos": 390, "end_pos": 390, "sequence_org": "F", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collaborator primers.", "chr_id": "9", "chr_pos": "105620056_105620057", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F390", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110296", "recommended_name": { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "autosomal recessive limb-girdle muscular dystrophy type 2M", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31." }, "synonyms": [ { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "LGMD2M", "description": "" }, { 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dystrophy", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein." }, "synonyms": [ { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment." }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "FCMD", "description": "" }, { "id": "MONDO:0009678", 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"DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:3659", "recommended_name": { "id": "DOID:3659", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3659", "name": "sialuria", "description": "A lysosomal storage disease characterized by increased sialic acid in the urine." }, "synonyms": [ { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria", "description": "Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." }, { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria", "description": "" }, { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria, French type", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "Salla disease", "description": "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive." }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "Salla disease", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "sialic acid storage disease", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "SD", "description": "" }, { "id": "MIM:269921", "resource": "MIM", "url": "https://www.omim.org/entry/269921", "name": "Sialuria", "description": "Sialuria" }, { "id": "MIM:604369", "resource": "MIM", "url": "https://www.omim.org/entry/604369", "name": "Salla disease", "description": "Salla disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "269921", "database": "MIM", "url": "https://www.omim.org/entry/269921" }, { "id": "3659", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3659" }, { "id": "3659", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3659" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "Q9NRA2-1" } ], "record_id": "pubmed.10581036", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 33 } ], "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 functional expression of human ST6GalNAc II. Molecular expression in various human cultured cells.", "journal": "Biochimica et biophysica acta", "date": "2000", "authors": "Samyn-Petit B, Krzewinski-Recchi MA, Steelant WF, Delannoy P, Harduin-Lepers A", "reference": { "type": "PubMed", "id": "10742600", "url": "https://pubmed.ncbi.nlm.nih.gov/10742600" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P78382-1", "protein_name": "CMP-sialic acid transporter", "gene_name": "SLC35A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15466-1", "protein_name": "Alpha-2,8-sialyltransferase 8E", "gene_name": "ST8SIA5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BXD5-1", "protein_name": "N-acetylneuraminate lyase", "gene_name": "NPL", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H195-1", "protein_name": "Mucin-3B", "gene_name": "MUC3B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRA2-1", "protein_name": "Sialin", "gene_name": "SLC17A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TBE9-1", "protein_name": "N-acylneuraminate-9-phosphatase", "gene_name": "NANP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UQ49-1", "protein_name": "Sialidase-3", "gene_name": "NEU3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y3R4-1", "protein_name": "Sialidase-2", "gene_name": "NEU2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10619-1", "protein_name": "Lysosomal protective protein", "gene_name": "CTSA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11201-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1", "gene_name": "ST3GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NSC7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1", "gene_name": "ST6GALNAC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11206-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4", "gene_name": "ST3GAL4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NDV1-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3", "gene_name": "ST6GALNAC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16842-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2", "gene_name": "ST3GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UJ37-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2", "gene_name": "ST6GALNAC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15907-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 1", "gene_name": "ST6GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UNP4-1", "protein_name": "Lactosylceramide alpha-2,3-sialyltransferase", "gene_name": "ST3GAL5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92185-1", "protein_name": "Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase", "gene_name": "ST8SIA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92186-1", "protein_name": "Alpha-2,8-sialyltransferase 8B", "gene_name": "ST8SIA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BVH7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5", "gene_name": "ST6GALNAC5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11203-1", "protein_name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase", "gene_name": "ST3GAL3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q969X2-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6", "gene_name": "ST6GALNAC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96JF0-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 2", "gene_name": "ST6GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H4F1-1", "protein_name": "Alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase", "gene_name": "ST6GALNAC4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16278-1", "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99102-1", "protein_name": "Mucin-4", "gene_name": "MUC4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96DR8-1", "protein_name": "Mucin-like protein 1", "gene_name": "MUCL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P98088-1", "protein_name": "Mucin-5AC", "gene_name": "MUC5AC", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HC84-1", "protein_name": "Mucin-5B", "gene_name": "MUC5B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y274-1", "protein_name": "Type 2 lactosamine alpha-2,3-sialyltransferase", "gene_name": "ST3GAL6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61647-1", "protein_name": "Alpha-2,8-sialyltransferase 8F", "gene_name": "ST8SIA6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92187-1", "protein_name": "CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase", "gene_name": "ST8SIA4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43173-1", "protein_name": "Alpha-N-acetylneuraminate alpha-2,8-sialyltransferase ST8SIA3", "gene_name": "ST8SIA3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NR45-1", "protein_name": "N-acetylneuraminate-9-phosphate synthase", "gene_name": "NANS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99519-1", "protein_name": "Sialidase-1", "gene_name": "NEU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WWR8-1", "protein_name": "Sialidase-4", "gene_name": "NEU4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q02817-1", "protein_name": "Mucin-2", "gene_name": "MUC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TAX7-1", "protein_name": "Mucin-7", "gene_name": "MUC7", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y223-1", "protein_name": "Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase", "gene_name": "GNE", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N387-1", "protein_name": "Mucin-15", "gene_name": "MUC15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N307-1", "protein_name": "Mucin-20", "gene_name": "MUC20", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H3R2-1", "protein_name": "Mucin-13", "gene_name": "MUC13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7Z5P9-1", "protein_name": "Mucin-19", "gene_name": "MUC19", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6W4X9-1", "protein_name": "Mucin-6", "gene_name": "MUC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NFW8-1", "protein_name": "N-acylneuraminate cytidylyltransferase", "gene_name": "CMAS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WXI7-1", "protein_name": "Mucin-16", "gene_name": "MUC16", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5SSG8-1", "protein_name": "Mucin-21", "gene_name": "MUC21", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q685J3-1", "protein_name": "Mucin-17", "gene_name": "MUC17", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q02505-1", "protein_name": "Mucin-3A", "gene_name": "MUC3A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UKN1-1", "protein_name": "Mucin-12", "gene_name": "MUC12", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15941-1", "protein_name": "Mucin-1", "gene_name": "MUC1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P78382", "url": "https://www.uniprot.org/uniprotkb/P78382" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10742600", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 51 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", 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"gene_name": "ST3GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NSC7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1", "gene_name": "ST6GALNAC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11206-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4", "gene_name": "ST3GAL4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NDV1-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3", "gene_name": "ST6GALNAC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16842-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2", "gene_name": "ST3GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UJ37-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2", "gene_name": "ST6GALNAC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15907-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 1", "gene_name": "ST6GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UNP4-1", "protein_name": "Lactosylceramide alpha-2,3-sialyltransferase", "gene_name": "ST3GAL5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92185-1", "protein_name": "Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase", "gene_name": "ST8SIA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92186-1", "protein_name": "Alpha-2,8-sialyltransferase 8B", "gene_name": "ST8SIA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BVH7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5", "gene_name": "ST6GALNAC5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11203-1", "protein_name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase", "gene_name": "ST3GAL3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q969X2-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6", "gene_name": "ST6GALNAC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96JF0-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 2", "gene_name": "ST6GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H4F1-1", "protein_name": "Alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase", "gene_name": "ST6GALNAC4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16278-1", "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y274-1", "protein_name": "Type 2 lactosamine alpha-2,3-sialyltransferase", "gene_name": "ST3GAL6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61647-1", "protein_name": "Alpha-2,8-sialyltransferase 8F", "gene_name": "ST8SIA6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92187-1", "protein_name": "CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase", "gene_name": "ST8SIA4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43173-1", "protein_name": "Alpha-N-acetylneuraminate alpha-2,8-sialyltransferase ST8SIA3", "gene_name": "ST8SIA3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NR45-1", "protein_name": "N-acetylneuraminate-9-phosphate synthase", "gene_name": "NANS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99519-1", "protein_name": "Sialidase-1", "gene_name": "NEU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WWR8-1", "protein_name": "Sialidase-4", "gene_name": "NEU4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y223-1", "protein_name": "Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase", "gene_name": "GNE", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NFW8-1", "protein_name": "N-acylneuraminate cytidylyltransferase", "gene_name": "CMAS", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P78382", "url": "https://www.uniprot.org/uniprotkb/P78382" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10749855", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 33 } ], "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": 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genotype-phenotype correlation.", "journal": "American journal of human genetics", "date": "2000", "authors": "Aula N, Salomaki P, Timonen R, Verheijen F, Mancini G, Mansson JE, Aula P, Peltonen L", "reference": { "type": "PubMed", "id": "10947946", "url": "https://pubmed.ncbi.nlm.nih.gov/10947946" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P78382-1", "protein_name": "CMP-sialic acid transporter", "gene_name": "SLC35A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15466-1", "protein_name": "Alpha-2,8-sialyltransferase 8E", "gene_name": "ST8SIA5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BXD5-1", "protein_name": "N-acetylneuraminate lyase", "gene_name": "NPL", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRA2-1", "protein_name": "Sialin", "gene_name": "SLC17A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TBE9-1", "protein_name": "N-acylneuraminate-9-phosphatase", "gene_name": "NANP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UQ49-1", "protein_name": "Sialidase-3", "gene_name": "NEU3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y3R4-1", "protein_name": "Sialidase-2", "gene_name": "NEU2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10619-1", "protein_name": "Lysosomal protective protein", "gene_name": "CTSA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11201-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1", "gene_name": "ST3GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NSC7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1", "gene_name": "ST6GALNAC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11206-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4", "gene_name": "ST3GAL4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NDV1-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3", 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"uniprot_canonical_ac": "Q9BVH7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5", "gene_name": "ST6GALNAC5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11203-1", "protein_name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase", "gene_name": "ST3GAL3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q969X2-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6", "gene_name": "ST6GALNAC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96JF0-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 2", "gene_name": "ST6GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H4F1-1", "protein_name": "Alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase", "gene_name": "ST6GALNAC4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16278-1", "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y274-1", "protein_name": "Type 2 lactosamine alpha-2,3-sialyltransferase", "gene_name": "ST3GAL6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61647-1", "protein_name": "Alpha-2,8-sialyltransferase 8F", "gene_name": "ST8SIA6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92187-1", "protein_name": "CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase", "gene_name": "ST8SIA4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43173-1", "protein_name": "Alpha-N-acetylneuraminate alpha-2,8-sialyltransferase ST8SIA3", "gene_name": "ST8SIA3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NR45-1", "protein_name": "N-acetylneuraminate-9-phosphate synthase", "gene_name": "NANS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99519-1", "protein_name": "Sialidase-1", "gene_name": "NEU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WWR8-1", "protein_name": "Sialidase-4", "gene_name": "NEU4", "tax_name": "Human" }, { 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"tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y223-1", "protein_name": "Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase", "gene_name": "GNE", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N387-1", "protein_name": "Mucin-15", "gene_name": "MUC15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N307-1", "protein_name": "Mucin-20", "gene_name": "MUC20", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H3R2-1", "protein_name": "Mucin-13", "gene_name": "MUC13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7Z5P9-1", "protein_name": "Mucin-19", "gene_name": "MUC19", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6W4X9-1", "protein_name": "Mucin-6", "gene_name": "MUC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NFW8-1", "protein_name": "N-acylneuraminate cytidylyltransferase", "gene_name": "CMAS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WXI7-1", "protein_name": "Mucin-16", "gene_name": "MUC16", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5SSG8-1", "protein_name": "Mucin-21", "gene_name": "MUC21", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q685J3-1", "protein_name": "Mucin-17", "gene_name": "MUC17", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q02505-1", "protein_name": "Mucin-3A", "gene_name": "MUC3A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UKN1-1", "protein_name": "Mucin-12", "gene_name": "MUC12", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15941-1", "protein_name": "Mucin-1", "gene_name": "MUC1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P78382", "url": "https://www.uniprot.org/uniprotkb/P78382" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11062056", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 51 } ], "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": "Unique disulfide bond structures found in ST8Sia IV polysialyltransferase are required for its activity.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Angata K, Yen TY, El-Battari A, Macher BA, Fukuda M", "reference": { "type": "PubMed", "id": "11279095", "url": "https://pubmed.ncbi.nlm.nih.gov/11279095" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P78382-1", "protein_name": "CMP-sialic acid transporter", "gene_name": "SLC35A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15466-1", "protein_name": "Alpha-2,8-sialyltransferase 8E", "gene_name": "ST8SIA5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BXD5-1", "protein_name": "N-acetylneuraminate lyase", "gene_name": "NPL", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRA2-1", "protein_name": "Sialin", "gene_name": "SLC17A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TBE9-1", "protein_name": "N-acylneuraminate-9-phosphatase", "gene_name": "NANP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UQ49-1", "protein_name": "Sialidase-3", "gene_name": "NEU3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y3R4-1", "protein_name": "Sialidase-2", "gene_name": "NEU2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10619-1", "protein_name": "Lysosomal protective protein", "gene_name": "CTSA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11201-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1", "gene_name": "ST3GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NSC7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1", "gene_name": "ST6GALNAC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11206-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4", "gene_name": "ST3GAL4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NDV1-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3", "gene_name": "ST6GALNAC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16842-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2", "gene_name": "ST3GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UJ37-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2", "gene_name": "ST6GALNAC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15907-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 1", "gene_name": "ST6GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UNP4-1", "protein_name": "Lactosylceramide alpha-2,3-sialyltransferase", "gene_name": "ST3GAL5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92185-1", "protein_name": "Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase", "gene_name": "ST8SIA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92186-1", "protein_name": "Alpha-2,8-sialyltransferase 8B", "gene_name": "ST8SIA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BVH7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5", "gene_name": "ST6GALNAC5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11203-1", "protein_name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase", "gene_name": "ST3GAL3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q969X2-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6", "gene_name": "ST6GALNAC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96JF0-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 2", "gene_name": "ST6GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H4F1-1", "protein_name": "Alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase", "gene_name": "ST6GALNAC4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16278-1", "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y274-1", "protein_name": "Type 2 lactosamine alpha-2,3-sialyltransferase", "gene_name": "ST3GAL6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61647-1", "protein_name": "Alpha-2,8-sialyltransferase 8F", "gene_name": "ST8SIA6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92187-1", "protein_name": "CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase", "gene_name": "ST8SIA4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43173-1", "protein_name": "Alpha-N-acetylneuraminate alpha-2,8-sialyltransferase ST8SIA3", "gene_name": "ST8SIA3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NR45-1", "protein_name": "N-acetylneuraminate-9-phosphate synthase", "gene_name": "NANS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99519-1", "protein_name": "Sialidase-1", "gene_name": "NEU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WWR8-1", "protein_name": "Sialidase-4", "gene_name": "NEU4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y223-1", "protein_name": "Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase", "gene_name": "GNE", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NFW8-1", "protein_name": "N-acylneuraminate cytidylyltransferase", "gene_name": "CMAS", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P78382", "url": "https://www.uniprot.org/uniprotkb/P78382" } ], "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": {}, "start_pos": 74, "start_aa": "Asn", "end_pos": 74, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn74", "evidence": [ { "id": "Q92187", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q92187#ptm_processing" }, { "id": "11279095", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11279095" }, { "id": "24190977", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": 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Loss of autopolysialylation. Loss of NCAM1 polysialylation activity; when associated with A-292. Loss of autopolysialylation; when associated with A-292.", "evidence": [ { "database": "UniProtKB", "id": "Q92187", "url": "https://www.uniprot.org/uniprotkb/Q92187" }, { "database": "PubMed", "id": "11279095", "url": "https://pubmed.ncbi.nlm.nih.gov/11279095" } ], "uniprot_canonical_ac": "Q92187-1" }, { "start_pos": 156, "end_pos": 156, "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of NCAM1 polysialylation activity. Loss of autopolysialylation. Loss of NCAM1 polysialylation activity; when associated with A-356. Loss of autopolysialylation; when associated with A-356.", "evidence": [ { "database": "UniProtKB", "id": "Q92187", "url": "https://www.uniprot.org/uniprotkb/Q92187" }, { "database": "PubMed", "id": "11279095", "url": "https://pubmed.ncbi.nlm.nih.gov/11279095" } ], "uniprot_canonical_ac": "Q92187-1" }, { "start_pos": 169, "end_pos": 169, "sequence_org": "C", "sequence_mut": "A", "comment": "Reduces NCAM1 polysialylation activity. Loss of autopolysialylation.", "evidence": [ { "database": "UniProtKB", "id": "Q92187", "url": "https://www.uniprot.org/uniprotkb/Q92187" }, { "database": "PubMed", "id": "11279095", "url": "https://pubmed.ncbi.nlm.nih.gov/11279095" } ], "uniprot_canonical_ac": "Q92187-1" }, { "start_pos": 292, "end_pos": 292, "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of NCAM1 polysialylation activity. Loss of autopolysialylation. Loss of NCAM1 polysialylation activity; when associated with A-142. Loss of autopolysialylation; when associated with A-142.", "evidence": [ { "database": "UniProtKB", "id": "Q92187", "url": "https://www.uniprot.org/uniprotkb/Q92187" }, { "database": "PubMed", "id": "11279095", "url": "https://pubmed.ncbi.nlm.nih.gov/11279095" } ], "uniprot_canonical_ac": "Q92187-1" }, { "start_pos": 356, "end_pos": 356, "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of NCAM1 polysialylation activity. Loss of autopolysialylation. Loss of NCAM1 polysialylation activity; when associated with A-156. Loss of autopolysialylation; when associated with A-156.", "evidence": [ { "database": "UniProtKB", "id": "Q92187", "url": "https://www.uniprot.org/uniprotkb/Q92187" }, { "database": "PubMed", "id": "11279095", "url": "https://pubmed.ncbi.nlm.nih.gov/11279095" } ], "uniprot_canonical_ac": "Q92187-1" } ], "record_id": "pubmed.11279095", "abstract": "", "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 33 } ], "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", "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", "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": "The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.", "journal": "Nature genetics", "date": "2001", "authors": "Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, Barash M, Shemesh M, Sadeh M, Grabov-Nardini G, Shmilevich I, Friedmann A, Karpati G, Bradley WG, Baumbach L, Lancet D, Asher EB, Beckmann JS, Argov Z, Mitrani-Rosenbaum S", "reference": { "type": "PubMed", "id": "11528398", "url": "https://pubmed.ncbi.nlm.nih.gov/11528398" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P78382-1", "protein_name": "CMP-sialic acid transporter", "gene_name": "SLC35A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15466-1", "protein_name": "Alpha-2,8-sialyltransferase 8E", "gene_name": "ST8SIA5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BXD5-1", "protein_name": "N-acetylneuraminate lyase", "gene_name": "NPL", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRA2-1", "protein_name": "Sialin", "gene_name": "SLC17A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TBE9-1", "protein_name": "N-acylneuraminate-9-phosphatase", "gene_name": "NANP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UQ49-1", "protein_name": "Sialidase-3", "gene_name": "NEU3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y3R4-1", "protein_name": "Sialidase-2", "gene_name": "NEU2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10619-1", "protein_name": "Lysosomal protective protein", "gene_name": "CTSA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11201-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1", "gene_name": "ST3GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NSC7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1", "gene_name": "ST6GALNAC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11206-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4", "gene_name": "ST3GAL4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NDV1-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3", "gene_name": "ST6GALNAC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16842-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2", "gene_name": "ST3GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UJ37-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2", "gene_name": "ST6GALNAC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15907-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 1", "gene_name": "ST6GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UNP4-1", "protein_name": "Lactosylceramide alpha-2,3-sialyltransferase", "gene_name": "ST3GAL5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92185-1", "protein_name": "Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase", "gene_name": "ST8SIA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92186-1", "protein_name": "Alpha-2,8-sialyltransferase 8B", "gene_name": "ST8SIA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BVH7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5", "gene_name": "ST6GALNAC5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11203-1", "protein_name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase", "gene_name": "ST3GAL3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q969X2-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6", "gene_name": "ST6GALNAC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96JF0-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 2", "gene_name": "ST6GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H4F1-1", "protein_name": "Alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase", "gene_name": "ST6GALNAC4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16278-1", "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y274-1", "protein_name": "Type 2 lactosamine alpha-2,3-sialyltransferase", "gene_name": "ST3GAL6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61647-1", "protein_name": "Alpha-2,8-sialyltransferase 8F", "gene_name": "ST8SIA6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92187-1", "protein_name": "CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase", "gene_name": "ST8SIA4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43173-1", "protein_name": "Alpha-N-acetylneuraminate alpha-2,8-sialyltransferase ST8SIA3", "gene_name": "ST8SIA3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NR45-1", "protein_name": "N-acetylneuraminate-9-phosphate synthase", "gene_name": "NANS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99519-1", "protein_name": "Sialidase-1", "gene_name": "NEU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WWR8-1", "protein_name": "Sialidase-4", "gene_name": "NEU4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y223-1", "protein_name": "Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase", "gene_name": "GNE", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NFW8-1", "protein_name": "N-acylneuraminate cytidylyltransferase", "gene_name": "CMAS", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P78382", "url": "https://www.uniprot.org/uniprotkb/P78382" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "Q9Y223", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y223" }, { "id": "rs121908630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908630" }, { "id": "rs121908630", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121908630#frequency_tab" }, { "id": "rs121908630", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121908630" }, { "id": "11528398", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11528398" } ], "glycoeffect": [], "start_pos": 225, "end_pos": 225, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis).", "chr_id": "9", "chr_pos": "36236928", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D225", "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:0080718", "recommended_name": { "id": "DOID:0080718", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080718", "name": "GNE myopathy", "description": "A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis." }, "synonyms": [ { "id": "DOID:0080718", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080718", "name": "Distal myopathy, Nonaka type", "description": "" }, { "id": "DOID:0080718", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080718", "name": "Hereditary Inclusion Body Myopathy", "description": "" }, { "id": "DOID:0080718", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080718", "name": "Nonaka myopathy", "description": "" }, { "id": "DOID:0080718", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080718", "name": "inclusion body myopathy 2", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "GNE myopathy", "description": "Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps." }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "DMRV", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "HIBM2", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "IBM2", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "Nonaka myopathy", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "distal myopathy with rimmed vacuoles", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "distal myopathy, Nonaka type", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "hereditary inclusion body myopathy type 2", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "inclusion body myopathy autosomal recessive", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "inclusion body myopathy type 2", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "quadriceps-sparing myopathy", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "NM", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "QSM", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "inclusion body myopathy 2, autosomal recessive", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "inclusion body myopathy, autosomal recessive", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "inclusion body myopathy, quadriceps-sparing", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "quadriceps sparing myopathy", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "rimmed vacuole myopathy", "description": "" }, { "id": "MIM:605820", "resource": "MIM", "url": "https://www.omim.org/entry/605820", "name": "Nonaka myopathy", "description": "Nonaka myopathy" } ], "unlinked_id_list": [], "evidence": [ { "id": "0011603", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603" }, { "id": "605820", "database": "MIM", "url": "https://www.omim.org/entry/605820" }, { "id": "GNE", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/GNE/#!details" }, { "id": "10020", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/10020#disease" }, { "id": "0080718", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080718" } ] }, { "disease_id": "DOID:3659", "recommended_name": { "id": "DOID:3659", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3659", "name": "sialuria", "description": "A lysosomal storage disease characterized by increased sialic acid in the urine." }, "synonyms": [ { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria", "description": "Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." }, { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria", "description": "" }, { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria, French type", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "Salla disease", "description": "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive." }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "Salla disease", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "sialic acid storage disease", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "SD", "description": "" }, { "id": "MIM:269921", "resource": "MIM", "url": "https://www.omim.org/entry/269921", "name": "Sialuria", "description": "Sialuria" }, { "id": "MIM:604369", "resource": "MIM", "url": "https://www.omim.org/entry/604369", "name": "Salla disease", "description": "Salla disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "269921", "database": "MIM", "url": "https://www.omim.org/entry/269921" }, { "id": "3659", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3659" }, { "id": "3659", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3659" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "000100000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "Q9Y223-1" }, { "evidence": [ { "id": "rs121908629", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908629" }, { "id": "rs121908629", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121908629#frequency_tab" }, { "id": "rs121908629", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121908629" }, { "id": "11528398", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11528398" } ], "glycoeffect": [], "start_pos": 246, "end_pos": 246, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "36236864", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R246", "disease": [ { "disease_id": "DOID:0080718", "recommended_name": { "id": "DOID:0080718", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080718", "name": "GNE myopathy", "description": "A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis." }, "synonyms": [ { "id": "DOID:0080718", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080718", "name": "Distal myopathy, Nonaka type", "description": "" }, { "id": "DOID:0080718", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080718", "name": "Hereditary Inclusion Body Myopathy", "description": "" }, { "id": "DOID:0080718", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080718", "name": "Nonaka myopathy", "description": "" }, { "id": "DOID:0080718", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080718", "name": "inclusion body myopathy 2", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "GNE myopathy", "description": "Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; 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Learning difficulties and seizures may occur in childhood." }, { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria", "description": "" }, { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria, French type", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "Salla disease", "description": "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. 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independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps." }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "DMRV", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "HIBM2", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "IBM2", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "Nonaka myopathy", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "distal myopathy with rimmed vacuoles", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "distal myopathy, Nonaka type", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "hereditary inclusion body myopathy type 2", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "inclusion body myopathy autosomal recessive", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "inclusion body myopathy type 2", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "quadriceps-sparing myopathy", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "NM", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "QSM", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "inclusion body myopathy 2, autosomal recessive", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "inclusion body myopathy, autosomal recessive", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "inclusion body myopathy, quadriceps-sparing", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "quadriceps sparing myopathy", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "rimmed vacuole myopathy", "description": "" }, { "id": "MIM:605820", "resource": "MIM", "url": "https://www.omim.org/entry/605820", "name": "Nonaka myopathy", "description": "Nonaka myopathy" } ], "unlinked_id_list": [], "evidence": [ { "id": "0011603", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603" }, { "id": "605820", "database": "MIM", "url": "https://www.omim.org/entry/605820" }, { "id": "GNE", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/GNE/#!details" }, { "id": "10020", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/10020#disease" }, { "id": "0080718", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080718" } ] }, { "disease_id": "DOID:3659", "recommended_name": { "id": "DOID:3659", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3659", "name": "sialuria", "description": "A lysosomal storage disease characterized by increased sialic acid in the urine." }, "synonyms": [ { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria", "description": "Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." }, { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria", "description": "" }, { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria, French type", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "Salla disease", "description": "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. 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"https://www.alliancegenome.org/disease/DOID:3659" }, { "id": "3659", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3659" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000100000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q9Y223-1" } ], "record_id": "pubmed.11528398", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 33 } ], "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": 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"uniprot_canonical_ac": "O75072-1", "protein_name": "Ribitol-5-phosphate transferase FKTN", "gene_name": "FKTN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H9S5-1", "protein_name": "Ribitol 5-phosphate transferase FKRP", "gene_name": "FKRP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96G79-1", "protein_name": "Probable UDP-sugar transporter protein SLC35A4", "gene_name": "SLC35A4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43505-1", "protein_name": "Beta-1,4-glucuronyltransferase 1", "gene_name": "B4GAT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N3Y3-1", "protein_name": "Xylosyl- and glucuronyltransferase LARGE2", "gene_name": "LARGE2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14118-1", "protein_name": "Dystroglycan 1", "gene_name": "DAG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WZA1-1", "protein_name": "Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1", "gene_name": "POMGNT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95461-1", "protein_name": "Xylosyl- and glucuronyltransferase LARGE1", "gene_name": "LARGE1", "tax_name": "Human" }, { "uniprot_canonical_ac": "A4D126-1", "protein_name": "D-ribitol-5-phosphate cytidylyltransferase", "gene_name": "CRPPA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2B1-1", "protein_name": "Ribitol-5-phosphate xylosyltransferase 1", "gene_name": "RXYLT1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P78382", "url": "https://www.uniprot.org/uniprotkb/P78382" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs104894679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104894679" }, { "id": "rs104894679", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs104894679" }, { "id": "11071142", "database": 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It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" } ] }, { "disease_id": "DOID:0111237", "recommended_name": { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy type A1", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13." }, "synonyms": [ { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "MDDGA1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0111237", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111237" } ] }, { "disease_id": "DOID:0111241", "recommended_name": { "id": "DOID:0111241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "congenital muscular dystrophy-dystroglycanopathy type A5", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32." }, "synonyms": [ { "id": "DOID:0111241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5", "description": "" }, { "id": "DOID:0111241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "MDDGA5", "description": "" }, { "id": "DOID:0111241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013157", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013157", "name": "muscle-eye-brain-FKRP related", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013157", "name": "MDDGA5", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013157", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5", "description": "" }, { "id": "MIM:613153", "resource": "MIM", "url": "https://www.omim.org/entry/613153", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5" } ], "unlinked_id_list": [], "evidence": [ { "id": "613153", "database": "MIM", "url": "https://www.omim.org/entry/613153" }, { "id": "FKRP", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKRP/#!details" }, { "id": "0111241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111241" } ] }, { "disease_id": "DOID:0110635", "recommended_name": { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "muscular dystrophy-dystroglycanopathy type B5", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3." }, "synonyms": [ { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "FKRP-related congenital muscular dystrophy", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "MDC1C", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "MDDGB5", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "congenital muscular dystrophy 1C", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "muscular dystrophy-dystroglycanopathy type B5", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3." }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "MDC1C", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "MDDGB5", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "congenital muscular dystrophy-FKRP related", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5", "description": "" }, { "id": "MIM:606612", "resource": "MIM", "url": "https://www.omim.org/entry/606612", "name": "Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5", "description": "Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5" } ], "unlinked_id_list": [], "evidence": [ { "id": "0011688", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688" }, { "id": "606612", "database": "MIM", "url": "https://www.omim.org/entry/606612" }, { "id": "FKRP", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKRP/#!details" }, { "id": "79147", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/79147#disease" }, { "id": "0110635", "database": 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"database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11709191" } ], "glycoeffect": [], "start_pos": 626, "end_pos": 626, "sequence_org": "V", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "46189481", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V626", "disease": [ { "disease_id": "DOID:0110292", "recommended_name": { "id": "DOID:0110292", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110292", "name": "autosomal recessive limb-girdle muscular dystrophy type 2O", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34." }, "synonyms": [ { "id": "DOID:0110292", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110292", "name": "muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related", "description": "" }, { "id": "DOID:0110292", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110292", "name": "LGMD2O", "description": "" }, { "id": "DOID:0110292", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110292", "name": "MDDGC3", "description": "" }, { "id": "DOID:0110292", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110292", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C3", "description": "" }, { "id": "MONDO:0013161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013161", "name": "autosomal recessive limb-girdle muscular dystrophy type 2O", "description": "Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia." }, { "id": "MONDO:0013161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013161", "name": "LGMD-POMGNT1 related", "description": "" }, { "id": "MONDO:0013161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013161", "name": "LGMD2O", "description": "" }, { "id": "MONDO:0013161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013161", "name": "MDDGC3", "description": "" }, { "id": "MONDO:0013161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013161", "name": "POMGNT1 autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0013161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013161", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1", "description": "" }, { "id": "MONDO:0013161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013161", "name": "limb-girdle muscular dystrophy type 2O", "description": "" }, { "id": "MONDO:0013161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013161", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3", "description": "" }, { "id": "MIM:613157", "resource": "MIM", "url": "https://www.omim.org/entry/613157", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C3", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C3" } ], "unlinked_id_list": [], "evidence": [ { "id": "613157", "database": "MIM", "url": "https://www.omim.org/entry/613157" }, { "id": "POMGNT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMGNT1/#!details" }, { "id": "0110292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110292" } ] }, { "disease_id": "DOID:0111236", "recommended_name": { "id": "DOID:0111236", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111236", "name": "congenital muscular dystrophy-dystroglycanopathy type A3", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1." }, "synonyms": [ { "id": "DOID:0111236", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111236", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related", "description": "" }, { "id": "DOID:0111236", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111236", "name": "MDDGA3", "description": "" }, { "id": "DOID:0111236", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111236", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3", "description": "" }, { "id": "MONDO:0009667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009667", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life." }, { "id": "MONDO:0009667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009667", "name": "muscle-eye-brain-POMGNT1 related", "description": "" }, { "id": "MONDO:0009667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009667", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3", "description": "" }, { "id": "MONDO:0009667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009667", "name": "MDDGA3", "description": "" }, { "id": "MONDO:0009667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009667", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3", "description": "" }, { "id": "MIM:253280", "resource": "MIM", "url": "https://www.omim.org/entry/253280", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3" } ], "unlinked_id_list": [], "evidence": [ { "id": "253280", "database": "MIM", "url": "https://www.omim.org/entry/253280" }, { "id": "POMGNT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMGNT1/#!details" }, { "id": "55624", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/55624#disease" }, { "id": "0111236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111236" } ] }, { "disease_id": "DOID:0112378", "recommended_name": { "id": "DOID:0112378", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112378", "name": "muscular dystrophy-dystroglycanopathy type B3", "description": "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.1." }, "synonyms": [ { "id": "DOID:0112378", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112378", "name": "MDDGB3", "description": "" }, { "id": "DOID:0112378", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112378", "name": "congenital muscular dystrophy POMGNT1-related", "description": "" }, { "id": "MONDO:0013155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013155", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3", "description": "" }, { "id": "MONDO:0013155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013155", "name": "congenital muscular dystrophy-POMGNT1 related", "description": "" }, { "id": "MONDO:0013155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013155", "name": "MDDGB3", "description": "" }, { "id": "MONDO:0013155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013155", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 3", "description": "" }, { "id": "MONDO:0013155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013155", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3", "description": "" }, { "id": "MIM:613151", "resource": "MIM", "url": "https://www.omim.org/entry/613151", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3" } ], "unlinked_id_list": [], "evidence": [ { "id": "613151", "database": "MIM", "url": "https://www.omim.org/entry/613151" }, { "id": "0112378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112378" } ] }, { "disease_id": "DOID:0061103", "recommended_name": { "id": "DOID:0061103", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0061103", "name": "retinitis pigmentosa 76", "description": "A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34." }, "synonyms": [ { "id": "DOID:0061103", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0061103", "name": "RP76", "description": "" }, { "id": "MONDO:0014929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014929", "name": "retinitis pigmentosa 76", "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene." }, { "id": "MONDO:0014929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014929", "name": "POMGNT1 retinitis pigmentosa", "description": "" }, { "id": "MONDO:0014929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014929", "name": "RP76", "description": "" }, { "id": "MONDO:0014929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014929", "name": "retinitis pigmentosa 76", "description": "" }, { "id": "MONDO:0014929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014929", "name": "retinitis pigmentosa 76; RP76", "description": "" }, { "id": "MONDO:0014929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014929", "name": "retinitis pigmentosa caused by mutation in POMGNT1", "description": "" }, { "id": "MONDO:0014929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014929", "name": "retinitis pigmentosa type 76", "description": "" }, { "id": "MIM:617123", "resource": "MIM", "url": "https://www.omim.org/entry/617123", "name": "Retinitis pigmentosa 76", "description": "Retinitis pigmentosa 76" } ], "unlinked_id_list": [], "evidence": [ { "id": "617123", "database": "MIM", "url": "https://www.omim.org/entry/617123" }, { "id": "POMGNT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMGNT1/#!details" }, { "id": "0061103", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061103" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000000000010.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q8WZA1-1" } ], "record_id": "pubmed.11709191", "abstract": "", "glycosylation": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 15 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 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": "Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.", "journal": "Human molecular genetics", "date": "2001", "authors": "Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA, Herrmann R, Anderson LV, Bashir R, Burgunder JM, Fallet S, Romero N, Fardeau M, Straub V, Storey G, Pollitt C, Richard I, Sewry CA, Bushby K, Voit T, Blake DJ, Muntoni F", "reference": { "type": "PubMed", "id": "11741828", "url": "https://pubmed.ncbi.nlm.nih.gov/11741828" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P78382-1", "protein_name": "CMP-sialic acid transporter", "gene_name": "SLC35A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43529-1", "protein_name": "Carbohydrate sulfotransferase 10", "gene_name": "CHST10", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75072-1", "protein_name": "Ribitol-5-phosphate transferase FKTN", "gene_name": "FKTN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H9S5-1", "protein_name": "Ribitol 5-phosphate transferase FKRP", "gene_name": "FKRP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96G79-1", "protein_name": "Probable UDP-sugar transporter protein SLC35A4", "gene_name": "SLC35A4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43505-1", "protein_name": "Beta-1,4-glucuronyltransferase 1", "gene_name": "B4GAT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N3Y3-1", "protein_name": "Xylosyl- and glucuronyltransferase LARGE2", "gene_name": "LARGE2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14118-1", "protein_name": "Dystroglycan 1", "gene_name": "DAG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WZA1-1", "protein_name": "Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1", "gene_name": "POMGNT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95461-1", "protein_name": "Xylosyl- and glucuronyltransferase LARGE1", "gene_name": "LARGE1", "tax_name": "Human" }, { "uniprot_canonical_ac": "A4D126-1", "protein_name": "D-ribitol-5-phosphate cytidylyltransferase", "gene_name": "CRPPA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2B1-1", "protein_name": "Ribitol-5-phosphate xylosyltransferase 1", "gene_name": "RXYLT1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P78382", "url": "https://www.uniprot.org/uniprotkb/P78382" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs587777823", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587777823" }, { "id": "11741828", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11741828" } ], "glycoeffect": [], "start_pos": 131, "end_pos": 131, "sequence_org": "D", "sequence_mut": "T*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gag-related.", "chr_id": "19", "chr_pos": "46755837_46755840", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D131", "disease": [ { "disease_id": "DOID:0110299", "recommended_name": { "id": "DOID:0110299", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110299", "name": "autosomal recessive limb-girdle muscular dystrophy type 2I", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3." }, "synonyms": [ { "id": "DOID:0110299", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110299", "name": "LGMD2I", "description": "" }, { "id": "DOID:0110299", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110299", "name": "MDDGC5", "description": "" }, { "id": "DOID:0110299", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110299", "name": "muscular dystrophy limb-girdle type 2I", "description": "" }, { "id": "DOID:0110299", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110299", "name": "muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related", "description": "" }, { "id": "DOID:0110299", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110299", "name": "Limb-girdle muscular dystrophy due to FKRP deficiency", "description": "" }, { "id": "DOID:0110299", "resource": "Disease Ontology", "url": 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"unlinked_id_list": [], "evidence": [ { "id": "0011603", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603" }, { "id": "605820", "database": "MIM", "url": "https://www.omim.org/entry/605820" }, { "id": "GNE", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/GNE/#!details" }, { "id": "10020", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/10020#disease" }, { "id": "0080718", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080718" } ] }, { "disease_id": "DOID:3659", "recommended_name": { "id": "DOID:3659", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3659", "name": "sialuria", "description": "A lysosomal storage disease characterized by increased sialic acid in the urine." }, "synonyms": [ { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria", "description": "Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." }, { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria", "description": "" }, { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria, French type", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "Salla disease", "description": "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive." }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "Salla disease", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "sialic acid storage disease", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "SD", "description": "" }, { "id": "MIM:269921", "resource": "MIM", "url": "https://www.omim.org/entry/269921", "name": "Sialuria", "description": "Sialuria" }, { "id": "MIM:604369", "resource": "MIM", "url": "https://www.omim.org/entry/604369", "name": "Salla disease", "description": "Salla disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "269921", "database": "MIM", "url": "https://www.omim.org/entry/269921" }, { "id": "3659", "database": "AGR", "url": 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"DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:0080718", "recommended_name": { "id": "DOID:0080718", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080718", "name": "GNE myopathy", "description": "A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis." }, "synonyms": [ { "id": "DOID:0080718", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080718", "name": "Distal myopathy, Nonaka type", "description": "" }, { "id": "DOID:0080718", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080718", "name": "Hereditary Inclusion Body Myopathy", "description": "" }, { "id": "DOID:0080718", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080718", "name": "Nonaka myopathy", "description": "" }, { "id": "DOID:0080718", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080718", "name": "inclusion body myopathy 2", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "GNE myopathy", "description": "Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps." }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "DMRV", "description": "" }, { 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "inclusion body myopathy, autosomal recessive", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "inclusion body myopathy, quadriceps-sparing", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "quadriceps sparing myopathy", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "rimmed vacuole myopathy", "description": "" }, { "id": "MIM:605820", "resource": "MIM", "url": "https://www.omim.org/entry/605820", "name": "Nonaka myopathy", "description": "Nonaka myopathy" } ], "unlinked_id_list": [], "evidence": [ { "id": "0011603", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603" }, { "id": "605820", "database": "MIM", "url": "https://www.omim.org/entry/605820" }, { "id": "GNE", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/GNE/#!details" }, { "id": "10020", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/10020#disease" }, { "id": "0080718", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080718" } ] }, { "disease_id": "DOID:3659", "recommended_name": { "id": "DOID:3659", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3659", "name": "sialuria", "description": "A lysosomal storage disease characterized by increased sialic acid in the urine." }, "synonyms": [ { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria", "description": "Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." }, { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria", "description": "" }, { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria, French type", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "Salla disease", "description": "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive." }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "Salla disease", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "sialic acid storage disease", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "SD", "description": "" }, { "id": "MIM:269921", "resource": "MIM", "url": "https://www.omim.org/entry/269921", "name": "Sialuria", "description": "Sialuria" }, { "id": "MIM:604369", "resource": "MIM", "url": "https://www.omim.org/entry/604369", "name": "Salla disease", "description": "Salla disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "269921", "database": "MIM", "url": "https://www.omim.org/entry/269921" }, { "id": "3659", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3659" }, { "id": "3659", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3659" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "100000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "Q9Y223-1" } ], "record_id": "pubmed.12177386", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 33 } ], "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": "Characterization of the second type of human beta-galactoside alpha 2,6-sialyltransferase (ST6Gal II), which sialylates Galbeta 1,4GlcNAc structures on oligosaccharides preferentially. Genomic analysis of human sialyltransferase genes.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Takashima S, Tsuji S, Tsujimoto M", "reference": { "type": "PubMed", "id": "12235148", "url": "https://pubmed.ncbi.nlm.nih.gov/12235148" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P78382-1", "protein_name": "CMP-sialic acid transporter", "gene_name": "SLC35A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15466-1", "protein_name": "Alpha-2,8-sialyltransferase 8E", "gene_name": "ST8SIA5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BXD5-1", "protein_name": "N-acetylneuraminate lyase", "gene_name": "NPL", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRA2-1", "protein_name": "Sialin", "gene_name": "SLC17A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TBE9-1", "protein_name": "N-acylneuraminate-9-phosphatase", "gene_name": "NANP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UQ49-1", "protein_name": "Sialidase-3", "gene_name": "NEU3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y3R4-1", "protein_name": "Sialidase-2", "gene_name": "NEU2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10619-1", "protein_name": "Lysosomal protective protein", "gene_name": "CTSA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11201-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1", "gene_name": "ST3GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NSC7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1", "gene_name": "ST6GALNAC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11206-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4", "gene_name": "ST3GAL4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NDV1-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3", "gene_name": "ST6GALNAC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16842-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2", "gene_name": "ST3GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UJ37-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2", "gene_name": "ST6GALNAC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15907-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 1", "gene_name": "ST6GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UNP4-1", "protein_name": "Lactosylceramide alpha-2,3-sialyltransferase", "gene_name": "ST3GAL5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92185-1", "protein_name": "Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase", "gene_name": "ST8SIA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92186-1", "protein_name": "Alpha-2,8-sialyltransferase 8B", "gene_name": "ST8SIA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BVH7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5", "gene_name": "ST6GALNAC5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11203-1", "protein_name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase", "gene_name": "ST3GAL3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q969X2-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6", "gene_name": "ST6GALNAC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96JF0-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 2", "gene_name": "ST6GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H4F1-1", "protein_name": "Alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase", "gene_name": "ST6GALNAC4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16278-1", "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y274-1", 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"name": "distal myopathy, Nonaka type", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "hereditary inclusion body myopathy type 2", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "inclusion body myopathy autosomal recessive", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "inclusion body myopathy type 2", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "quadriceps-sparing myopathy", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "NM", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": 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"resource": "MIM", "url": "https://www.omim.org/entry/605820", "name": "Nonaka myopathy", "description": "Nonaka myopathy" } ], "unlinked_id_list": [], "evidence": [ { "id": "0011603", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603" }, { "id": "605820", "database": "MIM", "url": "https://www.omim.org/entry/605820" }, { "id": "GNE", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/GNE/#!details" }, { "id": "10020", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/10020#disease" }, { "id": "0080718", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080718" } ] }, { "disease_id": "DOID:3659", "recommended_name": { "id": "DOID:3659", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3659", "name": "sialuria", "description": "A lysosomal storage disease characterized by increased sialic acid in the urine." }, "synonyms": [ { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria", "description": "Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." }, { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria", "description": "" }, { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria, French type", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "Salla disease", "description": "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive." }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "Salla disease", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "sialic acid storage disease", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "SD", "description": "" }, { "id": "MIM:269921", "resource": "MIM", "url": "https://www.omim.org/entry/269921", "name": "Sialuria", "description": "Sialuria" }, { "id": "MIM:604369", "resource": "MIM", "url": "https://www.omim.org/entry/604369", "name": "Salla disease", "description": "Salla disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "269921", "database": "MIM", "url": "https://www.omim.org/entry/269921" }, { "id": "3659", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3659" }, { "id": "3659", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3659" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000100000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q9Y223-1" } ], "record_id": "pubmed.12473780", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 33 } ], "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 and functional expression of a second human beta-galactoside alpha2,6-sialyltransferase, ST6Gal II.", "journal": "European journal of biochemistry", "date": "2003", "authors": "Krzewinski-Recchi MA, Julien S, Juliant S, Teintenier-Lelievre M, Samyn-Petit B, Montiel MD, Mir AM, Cerutti M, Harduin-Lepers A, Delannoy P", "reference": { "type": "PubMed", "id": "12603328", "url": "https://pubmed.ncbi.nlm.nih.gov/12603328" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P78382-1", "protein_name": "CMP-sialic acid transporter", "gene_name": "SLC35A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15466-1", "protein_name": "Alpha-2,8-sialyltransferase 8E", "gene_name": "ST8SIA5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BXD5-1", "protein_name": "N-acetylneuraminate lyase", "gene_name": "NPL", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q09328-1", "protein_name": "Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A", "gene_name": "MGAT5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRA2-1", "protein_name": "Sialin", "gene_name": "SLC17A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TBE9-1", "protein_name": "N-acylneuraminate-9-phosphatase", "gene_name": "NANP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UQ49-1", "protein_name": "Sialidase-3", "gene_name": "NEU3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y3R4-1", "protein_name": "Sialidase-2", "gene_name": "NEU2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10619-1", "protein_name": "Lysosomal protective protein", "gene_name": "CTSA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11201-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1", "gene_name": "ST3GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NSC7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1", "gene_name": "ST6GALNAC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11206-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4", "gene_name": "ST3GAL4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NDV1-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3", "gene_name": "ST6GALNAC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16842-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2", "gene_name": "ST3GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UJ37-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2", "gene_name": "ST6GALNAC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15907-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 1", "gene_name": "ST6GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UNP4-1", "protein_name": "Lactosylceramide alpha-2,3-sialyltransferase", "gene_name": "ST3GAL5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92185-1", "protein_name": "Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase", "gene_name": "ST8SIA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92186-1", "protein_name": "Alpha-2,8-sialyltransferase 8B", "gene_name": "ST8SIA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BVH7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5", "gene_name": "ST6GALNAC5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11203-1", "protein_name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase", "gene_name": "ST3GAL3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q969X2-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6", "gene_name": "ST6GALNAC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96JF0-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 2", "gene_name": "ST6GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H4F1-1", "protein_name": "Alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase", "gene_name": "ST6GALNAC4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16278-1", "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60513-1", "protein_name": "Beta-1,4-galactosyltransferase 4", "gene_name": "B4GALT4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43286-1", "protein_name": "Beta-1,4-galactosyltransferase 5", "gene_name": "B4GALT5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y274-1", "protein_name": "Type 2 lactosamine alpha-2,3-sialyltransferase", "gene_name": "ST3GAL6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61647-1", "protein_name": "Alpha-2,8-sialyltransferase 8F", "gene_name": "ST8SIA6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92187-1", "protein_name": "CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase", "gene_name": "ST8SIA4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43173-1", "protein_name": "Alpha-N-acetylneuraminate alpha-2,8-sialyltransferase ST8SIA3", "gene_name": "ST8SIA3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NR45-1", "protein_name": "N-acetylneuraminate-9-phosphate synthase", "gene_name": "NANS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99519-1", "protein_name": "Sialidase-1", "gene_name": "NEU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WWR8-1", "protein_name": "Sialidase-4", "gene_name": "NEU4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60909-1", "protein_name": "Beta-1,4-galactosyltransferase 2", "gene_name": "B4GALT2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y223-1", "protein_name": "Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase", "gene_name": "GNE", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UBX8-1", "protein_name": "Beta-1,4-galactosyltransferase 6", "gene_name": "B4GALT6", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60512-1", "protein_name": "Beta-1,4-galactosyltransferase 3", "gene_name": "B4GALT3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15291-1", "protein_name": "Beta-1,4-galactosyltransferase 1", "gene_name": "B4GALT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NFW8-1", "protein_name": "N-acylneuraminate cytidylyltransferase", "gene_name": "CMAS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UQ53-1", "protein_name": "Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B", "gene_name": "MGAT4B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UBM8-1", "protein_name": "Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C", "gene_name": "MGAT4C", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UM21-1", "protein_name": "Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A", "gene_name": "MGAT4A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P78382", "url": "https://www.uniprot.org/uniprotkb/P78382" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12603328", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 43 } ], "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": 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Synthesis of disialyl Lewis a (Le(a)) structure in colon cancer cell lines by a sialyltransferase, ST6GalNAc VI, responsible for the synthesis of alpha-series gangliosides.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Tsuchida A, Okajima T, Furukawa K, Ando T, Ishida H, Yoshida A, Nakamura Y, Kannagi R, Kiso M, Furukawa K", "reference": { "type": "PubMed", "id": "12668675", "url": "https://pubmed.ncbi.nlm.nih.gov/12668675" }, "referenced_glycans": [ { "glytoucan_ac": "G93400AK" } ], "referenced_proteins": [ { "uniprot_canonical_ac": "P78382-1", "protein_name": "CMP-sialic acid transporter", "gene_name": "SLC35A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15466-1", "protein_name": "Alpha-2,8-sialyltransferase 8E", "gene_name": "ST8SIA5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BXD5-1", "protein_name": "N-acetylneuraminate lyase", "gene_name": "NPL", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRA2-1", "protein_name": "Sialin", "gene_name": "SLC17A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TBE9-1", "protein_name": "N-acylneuraminate-9-phosphatase", "gene_name": "NANP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UQ49-1", "protein_name": "Sialidase-3", "gene_name": "NEU3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y3R4-1", "protein_name": "Sialidase-2", "gene_name": "NEU2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10619-1", "protein_name": "Lysosomal protective protein", "gene_name": "CTSA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11201-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1", "gene_name": "ST3GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NSC7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1", "gene_name": "ST6GALNAC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11206-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4", "gene_name": "ST3GAL4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NDV1-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3", "gene_name": "ST6GALNAC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16842-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2", "gene_name": "ST3GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UJ37-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2", "gene_name": "ST6GALNAC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15907-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 1", "gene_name": "ST6GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UNP4-1", "protein_name": "Lactosylceramide alpha-2,3-sialyltransferase", "gene_name": "ST3GAL5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92185-1", "protein_name": "Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase", "gene_name": "ST8SIA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92186-1", "protein_name": "Alpha-2,8-sialyltransferase 8B", "gene_name": "ST8SIA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75752-1", "protein_name": "UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1", "gene_name": "B3GALNT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BVH7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5", "gene_name": "ST6GALNAC5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11203-1", "protein_name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase", "gene_name": "ST3GAL3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q969X2-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6", "gene_name": "ST6GALNAC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96JF0-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 2", "gene_name": "ST6GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H4F1-1", "protein_name": "Alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase", "gene_name": "ST6GALNAC4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16278-1", "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43286-1", "protein_name": "Beta-1,4-galactosyltransferase 5", "gene_name": "B4GALT5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16880-1", "protein_name": "2-hydroxyacylsphingosine 1-beta-galactosyltransferase", "gene_name": "UGT8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16739-1", "protein_name": "Ceramide glucosyltransferase", "gene_name": "UGCG", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TCT0-1", "protein_name": "Ceramide kinase", "gene_name": "CERK", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y274-1", "protein_name": "Type 2 lactosamine alpha-2,3-sialyltransferase", "gene_name": "ST3GAL6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61647-1", "protein_name": "Alpha-2,8-sialyltransferase 8F", "gene_name": "ST8SIA6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92187-1", "protein_name": "CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase", "gene_name": "ST8SIA4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43173-1", "protein_name": "Alpha-N-acetylneuraminate alpha-2,8-sialyltransferase ST8SIA3", "gene_name": "ST8SIA3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NR45-1", "protein_name": "N-acetylneuraminate-9-phosphate synthase", "gene_name": "NANS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99519-1", "protein_name": "Sialidase-1", "gene_name": "NEU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WWR8-1", "protein_name": "Sialidase-4", "gene_name": "NEU4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99999-1", "protein_name": "Galactosylceramide sulfotransferase", "gene_name": "GAL3ST1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P19526-1", "protein_name": "Galactoside alpha-(1,2)-fucosyltransferase 1", "gene_name": "FUT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q10981-1", "protein_name": "Galactoside alpha-(1,2)-fucosyltransferase 2", "gene_name": "FUT2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O96024-1", "protein_name": "Beta-1,3-galactosyltransferase 4", "gene_name": "B3GALT4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y223-1", "protein_name": "Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase", "gene_name": "GNE", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UBX8-1", "protein_name": "Beta-1,4-galactosyltransferase 6", "gene_name": "B4GALT6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BYG0-1", "protein_name": "Lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase", "gene_name": "B3GNT5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NFW8-1", "protein_name": "N-acylneuraminate cytidylyltransferase", "gene_name": "CMAS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q00973-1", "protein_name": "Beta-1,4 N-acetylgalactosaminyltransferase 1", "gene_name": "B4GALNT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21217-1", "protein_name": "3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase FUT3", "gene_name": "FUT3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NPC4-1", "protein_name": "Lactosylceramide 4-alpha-galactosyltransferase", "gene_name": "A4GALT", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P78382", "url": "https://www.uniprot.org/uniprotkb/P78382" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12668675", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 47 } ], "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": "Hereditary inclusion body myopathy: the Middle Eastern genetic cluster.", "journal": "Neurology", "date": "2003", "authors": "Argov Z, Eisenberg I, Grabov-Nardini G, Sadeh M, Wirguin I, Soffer D, Mitrani-Rosenbaum S", "reference": { "type": "PubMed", "id": "12743242", "url": "https://pubmed.ncbi.nlm.nih.gov/12743242" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P78382-1", "protein_name": "CMP-sialic acid transporter", "gene_name": "SLC35A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15466-1", "protein_name": "Alpha-2,8-sialyltransferase 8E", "gene_name": "ST8SIA5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BXD5-1", "protein_name": "N-acetylneuraminate lyase", "gene_name": "NPL", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRA2-1", "protein_name": "Sialin", "gene_name": "SLC17A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TBE9-1", "protein_name": "N-acylneuraminate-9-phosphatase", "gene_name": "NANP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UQ49-1", "protein_name": "Sialidase-3", "gene_name": "NEU3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y3R4-1", "protein_name": "Sialidase-2", "gene_name": "NEU2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10619-1", "protein_name": "Lysosomal protective protein", "gene_name": "CTSA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11201-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1", "gene_name": "ST3GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NSC7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1", "gene_name": "ST6GALNAC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11206-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4", "gene_name": "ST3GAL4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NDV1-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3", "gene_name": "ST6GALNAC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16842-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2", "gene_name": "ST3GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UJ37-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2", "gene_name": "ST6GALNAC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15907-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 1", "gene_name": "ST6GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UNP4-1", "protein_name": "Lactosylceramide alpha-2,3-sialyltransferase", "gene_name": "ST3GAL5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92185-1", "protein_name": "Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase", "gene_name": "ST8SIA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92186-1", "protein_name": "Alpha-2,8-sialyltransferase 8B", "gene_name": "ST8SIA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BVH7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5", "gene_name": "ST6GALNAC5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11203-1", "protein_name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase", "gene_name": "ST3GAL3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q969X2-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6", "gene_name": "ST6GALNAC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96JF0-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 2", "gene_name": "ST6GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H4F1-1", "protein_name": "Alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase", "gene_name": "ST6GALNAC4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16278-1", "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y274-1", "protein_name": "Type 2 lactosamine alpha-2,3-sialyltransferase", "gene_name": "ST3GAL6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61647-1", "protein_name": "Alpha-2,8-sialyltransferase 8F", "gene_name": "ST8SIA6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92187-1", "protein_name": "CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase", "gene_name": "ST8SIA4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43173-1", "protein_name": "Alpha-N-acetylneuraminate alpha-2,8-sialyltransferase ST8SIA3", "gene_name": "ST8SIA3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NR45-1", "protein_name": "N-acetylneuraminate-9-phosphate synthase", "gene_name": "NANS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99519-1", "protein_name": "Sialidase-1", "gene_name": "NEU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WWR8-1", "protein_name": "Sialidase-4", "gene_name": "NEU4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y223-1", "protein_name": "Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase", "gene_name": "GNE", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NFW8-1", "protein_name": "N-acylneuraminate cytidylyltransferase", "gene_name": "CMAS", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P78382", "url": "https://www.uniprot.org/uniprotkb/P78382" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs28937594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28937594" }, { "id": "rs28937594", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28937594" }, { "id": "rs28937594", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs28937594#frequency_tab" }, { "id": "rs28937594", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs28937594" }, { "id": "11528398", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11528398" }, { "id": "12473780", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12473780" }, { "id": "12743242", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12743242" }, { "id": "15136692", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15136692" } ], "glycoeffect": [], "start_pos": 712, "end_pos": 712, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "9", "chr_pos": "36217399", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M712", "disease": [ { "disease_id": "DOID:0080718", "recommended_name": { "id": "DOID:0080718", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080718", "name": "GNE myopathy", "description": "A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis." }, "synonyms": [ { "id": "DOID:0080718", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080718", "name": "Distal myopathy, Nonaka type", "description": "" }, { "id": "DOID:0080718", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080718", "name": "Hereditary Inclusion Body Myopathy", "description": "" }, { "id": "DOID:0080718", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080718", "name": "Nonaka myopathy", "description": "" }, { "id": "DOID:0080718", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080718", "name": "inclusion body myopathy 2", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "GNE myopathy", "description": "Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps." }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "DMRV", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "HIBM2", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "IBM2", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "Nonaka myopathy", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "distal myopathy with rimmed vacuoles", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "distal myopathy, Nonaka type", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "hereditary inclusion body myopathy type 2", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "inclusion body myopathy autosomal recessive", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "inclusion body myopathy type 2", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "quadriceps-sparing myopathy", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "NM", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "QSM", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "inclusion body myopathy 2, autosomal recessive", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "inclusion body myopathy, autosomal recessive", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "inclusion body myopathy, quadriceps-sparing", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "quadriceps sparing myopathy", "description": "" }, { "id": "MONDO:0011603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603", "name": "rimmed vacuole myopathy", "description": "" }, { "id": "MIM:605820", "resource": "MIM", "url": "https://www.omim.org/entry/605820", "name": "Nonaka myopathy", "description": "Nonaka myopathy" } ], "unlinked_id_list": [], "evidence": [ { "id": "0011603", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011603" }, { "id": "605820", "database": "MIM", "url": "https://www.omim.org/entry/605820" }, { "id": "GNE", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/GNE/#!details" }, { "id": "10020", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/10020#disease" }, { "id": "0080718", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080718" } ] }, { "disease_id": "DOID:3659", "recommended_name": { "id": "DOID:3659", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3659", "name": "sialuria", "description": "A lysosomal storage disease characterized by increased sialic acid in the urine." }, "synonyms": [ { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria", "description": "Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." }, { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria", "description": "" }, { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria, French type", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "Salla disease", "description": "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive." }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "Salla disease", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "sialic acid storage disease", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "SD", "description": "" }, { "id": "MIM:269921", "resource": "MIM", "url": "https://www.omim.org/entry/269921", "name": "Sialuria", "description": "Sialuria" }, { "id": "MIM:604369", "resource": "MIM", "url": "https://www.omim.org/entry/604369", "name": "Salla disease", "description": "Salla disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "269921", "database": "MIM", "url": "https://www.omim.org/entry/269921" }, { "id": "3659", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3659" }, { "id": "3659", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3659" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000100000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q9Y223-1" } ], "record_id": "pubmed.12743242", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 33 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.", "journal": "Human molecular genetics", "date": "2003", "authors": "Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F", "reference": { "type": "PubMed", "id": "12966029", "url": "https://pubmed.ncbi.nlm.nih.gov/12966029" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P78382-1", "protein_name": "CMP-sialic acid transporter", "gene_name": "SLC35A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43529-1", "protein_name": "Carbohydrate sulfotransferase 10", "gene_name": "CHST10", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75072-1", "protein_name": "Ribitol-5-phosphate transferase FKTN", "gene_name": "FKTN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H9S5-1", "protein_name": "Ribitol 5-phosphate transferase FKRP", "gene_name": "FKRP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96G79-1", "protein_name": "Probable UDP-sugar transporter protein SLC35A4", "gene_name": "SLC35A4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43505-1", "protein_name": "Beta-1,4-glucuronyltransferase 1", "gene_name": "B4GAT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N3Y3-1", "protein_name": "Xylosyl- and glucuronyltransferase LARGE2", "gene_name": "LARGE2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14118-1", "protein_name": "Dystroglycan 1", "gene_name": "DAG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WZA1-1", "protein_name": "Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1", "gene_name": "POMGNT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95461-1", "protein_name": "Xylosyl- and glucuronyltransferase LARGE1", "gene_name": "LARGE1", "tax_name": "Human" }, { "uniprot_canonical_ac": "A4D126-1", "protein_name": "D-ribitol-5-phosphate cytidylyltransferase", "gene_name": "CRPPA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2B1-1", "protein_name": "Ribitol-5-phosphate xylosyltransferase 1", "gene_name": "RXYLT1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P78382", "url": "https://www.uniprot.org/uniprotkb/P78382" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121908675", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908675" }, { "id": "rs121908675", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908675" }, { "id": "rs121908675", "database": "TOPMed", "url": 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Learning difficulties and seizures may occur in childhood." }, { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria", "description": "" }, { "id": "MONDO:0010028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010028", "name": "sialuria, French type", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "Salla disease", "description": "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive." }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "Salla disease", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "sialic acid storage disease", "description": "" }, { "id": "MONDO:0011449", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011449", "name": "SD", "description": "" }, { "id": "MIM:269921", "resource": "MIM", "url": "https://www.omim.org/entry/269921", "name": "Sialuria", "description": "Sialuria" }, { "id": "MIM:604369", "resource": "MIM", "url": "https://www.omim.org/entry/604369", "name": "Salla disease", "description": "Salla disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "269921", "database": "MIM", "url": "https://www.omim.org/entry/269921" }, { "id": "3659", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3659" }, { "id": "3659", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3659" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000100000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q9Y223-1" } ], "record_id": "pubmed.15136692", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 33 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Crystal structure of the human cytosolic sialidase Neu2. Evidence for the dynamic nature of substrate recognition.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Chavas LM, Tringali C, Fusi P, Venerando B, Tettamanti G, Kato R, Monti E, Wakatsuki S", "reference": { "type": "PubMed", "id": "15501818", "url": "https://pubmed.ncbi.nlm.nih.gov/15501818" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P78382-1", "protein_name": "CMP-sialic acid transporter", "gene_name": "SLC35A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15466-1", "protein_name": "Alpha-2,8-sialyltransferase 8E", "gene_name": "ST8SIA5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BXD5-1", "protein_name": "N-acetylneuraminate lyase", "gene_name": "NPL", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRA2-1", "protein_name": "Sialin", "gene_name": "SLC17A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TBE9-1", "protein_name": "N-acylneuraminate-9-phosphatase", "gene_name": "NANP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UQ49-1", "protein_name": "Sialidase-3", "gene_name": "NEU3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y3R4-1", "protein_name": "Sialidase-2", "gene_name": "NEU2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10619-1", "protein_name": "Lysosomal protective protein", "gene_name": "CTSA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11201-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1", "gene_name": "ST3GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NSC7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1", "gene_name": "ST6GALNAC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11206-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4", "gene_name": "ST3GAL4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NDV1-1", "protein_name": "Alpha-N-acetylgalactosaminide 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"tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BVH7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5", "gene_name": "ST6GALNAC5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11203-1", "protein_name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase", "gene_name": "ST3GAL3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q969X2-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6", "gene_name": "ST6GALNAC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96JF0-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 2", "gene_name": "ST6GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H4F1-1", "protein_name": "Alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase", "gene_name": "ST6GALNAC4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16278-1", "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y274-1", "protein_name": "Type 2 lactosamine alpha-2,3-sialyltransferase", "gene_name": "ST3GAL6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61647-1", "protein_name": "Alpha-2,8-sialyltransferase 8F", "gene_name": "ST8SIA6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92187-1", "protein_name": "CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase", "gene_name": "ST8SIA4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43173-1", "protein_name": "Alpha-N-acetylneuraminate alpha-2,8-sialyltransferase ST8SIA3", "gene_name": "ST8SIA3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NR45-1", "protein_name": "N-acetylneuraminate-9-phosphate synthase", "gene_name": "NANS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99519-1", "protein_name": "Sialidase-1", "gene_name": "NEU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WWR8-1", "protein_name": "Sialidase-4", "gene_name": "NEU4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y223-1", "protein_name": "Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase", "gene_name": "GNE", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NFW8-1", "protein_name": "N-acylneuraminate cytidylyltransferase", "gene_name": "CMAS", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P78382", "url": "https://www.uniprot.org/uniprotkb/P78382" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15501818", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 33 } ], "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", 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"tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UNP4-1", "protein_name": "Lactosylceramide alpha-2,3-sialyltransferase", "gene_name": "ST3GAL5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92185-1", "protein_name": "Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase", "gene_name": "ST8SIA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92186-1", "protein_name": "Alpha-2,8-sialyltransferase 8B", "gene_name": "ST8SIA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BVH7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5", "gene_name": "ST6GALNAC5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11203-1", "protein_name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase", "gene_name": "ST3GAL3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q969X2-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6", "gene_name": "ST6GALNAC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96JF0-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 2", "gene_name": "ST6GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H4F1-1", "protein_name": "Alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase", "gene_name": "ST6GALNAC4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16278-1", "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y274-1", "protein_name": "Type 2 lactosamine alpha-2,3-sialyltransferase", "gene_name": "ST3GAL6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61647-1", "protein_name": "Alpha-2,8-sialyltransferase 8F", "gene_name": "ST8SIA6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92187-1", "protein_name": "CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase", "gene_name": "ST8SIA4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43173-1", "protein_name": 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"uniprot_canonical_ac": "Q9BVH7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5", "gene_name": "ST6GALNAC5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11203-1", "protein_name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase", "gene_name": "ST3GAL3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q969X2-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6", "gene_name": "ST6GALNAC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96JF0-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 2", "gene_name": "ST6GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H4F1-1", "protein_name": "Alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase", "gene_name": "ST6GALNAC4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16278-1", "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_name": "Human" }, { 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recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0013161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013161", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1", "description": "" }, { "id": "MONDO:0013161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013161", "name": "limb-girdle muscular dystrophy type 2O", "description": "" }, { "id": "MONDO:0013161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013161", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3", "description": "" }, { "id": "MIM:613157", "resource": "MIM", "url": "https://www.omim.org/entry/613157", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C3", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C3" } ], "unlinked_id_list": [], "evidence": [ { "id": "613157", "database": "MIM", "url": 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"description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, 1X", "description": "" }, { "id": "MIM:611615", "resource": "MIM", "url": "https://www.omim.org/entry/611615", "name": "Cardiomyopathy, dilated, 1X", "description": "Cardiomyopathy, dilated, 1X" } ], "unlinked_id_list": [], "evidence": [ { "id": "0012704", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704" }, { "id": "611615", "database": "MIM", "url": "https://www.omim.org/entry/611615" }, { "id": "2218", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/2218#disease" }, { "id": "0110444", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110444" } ] }, { "disease_id": "DOID:0050559", "recommended_name": { "id": "DOID:0050559", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050559", "name": "Fukuyama congenital muscular 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama Type Congenital Muscular Dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "MDDGA4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscle-eye-brain-FKTN related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "" }, { "id": "MIM:253800", "resource": "MIM", "url": "https://www.omim.org/entry/253800", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" }, { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" } ] }, { "disease_id": "DOID:0112379", "recommended_name": { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112379", "name": "muscular dystrophy-dystroglycanopathy type B4", "description": "A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2." }, "synonyms": [ { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112379", "name": "MDDGB4", "description": "" }, { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112379", "name": "congenital muscular dystrophy FKTN-related", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "congenital muscular dystrophy-FKTN related", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "MDDGB4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B, 4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4", "description": "" }, { "id": "MIM:613152", "resource": "MIM", "url": "https://www.omim.org/entry/613152", "name": "Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4", "description": "Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4" } ], "unlinked_id_list": [], "evidence": [ { "id": "613152", "database": "MIM", "url": "https://www.omim.org/entry/613152" }, { "id": "FKTN", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKTN/#!details" }, { "id": "0112379", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112379" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "O75072-1" }, { "evidence": [ { "id": "rs1588222870", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1588222870" }, { "id": "rs398123555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs398123555" }, { "id": "10545611", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10545611" }, { "id": "17044012", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17044012" }, { "id": "18177472", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18177472" } ], "glycoeffect": [], "start_pos": 390, "end_pos": 390, "sequence_org": "F", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collaborator primers.", "chr_id": "9", "chr_pos": "105620056_105620057", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F390", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110296", "recommended_name": { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "autosomal recessive limb-girdle muscular dystrophy type 2M", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on 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"url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "limb-girdle muscular dystrophy type 2M", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4", "description": "" }, { "id": "MIM:611588", "resource": "MIM", "url": "https://www.omim.org/entry/611588", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C4", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0012699", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699" }, { "id": "611588", "database": "MIM", "url": "https://www.omim.org/entry/611588" }, { "id": "FKTN", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKTN/#!details" }, { "id": "2218", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/2218#disease" }, { "id": "0110296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110296" } ] }, { "disease_id": "DOID:0110444", "recommended_name": { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "dilated cardiomyopathy 1X", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31." }, "synonyms": [ { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "dilated cardiomyopathy with mild or no proximal muscle weakness", "description": "" }, { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "CMD1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy 1X", 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"description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, 1X", "description": "" }, { "id": "MIM:611615", "resource": "MIM", "url": "https://www.omim.org/entry/611615", "name": "Cardiomyopathy, dilated, 1X", "description": "Cardiomyopathy, dilated, 1X" } ], "unlinked_id_list": [], "evidence": [ { "id": "0012704", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704" }, { "id": "611615", "database": "MIM", "url": "https://www.omim.org/entry/611615" }, { "id": "2218", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/2218#disease" }, { "id": "0110444", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110444" } ] }, { "disease_id": "DOID:0050559", "recommended_name": { "id": "DOID:0050559", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050559", "name": "Fukuyama congenital muscular 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama Type Congenital Muscular Dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "MDDGA4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscle-eye-brain-FKTN related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular 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"MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" } ] }, { "disease_id": "DOID:0111237", "recommended_name": { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy type A1", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13." }, "synonyms": [ { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "MDDGA1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0111237", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111237" } ] }, { "disease_id": "DOID:0112379", "recommended_name": { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112379", "name": "muscular dystrophy-dystroglycanopathy type B4", "description": "A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2." }, "synonyms": [ { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112379", "name": "MDDGB4", "description": "" }, { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112379", "name": "congenital muscular dystrophy FKTN-related", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "congenital muscular dystrophy-FKTN related", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "MDDGB4", "description": "" }, { "id": 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"https://disease-ontology.org/term/DOID:0110296", "name": "autosomal recessive limb-girdle muscular dystrophy type 2M", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31." }, "synonyms": [ { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "LGMD2M", "description": "" }, { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "MDDGC4", "description": "" }, { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "autosomal recessive limb-girdle muscular dystrophy type 2M", "description": "A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. 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"url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "limb-girdle muscular dystrophy type 2M", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4", "description": "" }, { "id": "MIM:611588", "resource": "MIM", "url": "https://www.omim.org/entry/611588", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C4", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0012699", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699" }, { "id": "611588", "database": "MIM", "url": "https://www.omim.org/entry/611588" }, { "id": "FKTN", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKTN/#!details" }, { "id": "2218", "database": "GlyCosmos", "url": 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"gene_name": "ST6GALNAC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11206-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4", "gene_name": "ST3GAL4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NDV1-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3", "gene_name": "ST6GALNAC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16842-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2", "gene_name": "ST3GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UJ37-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2", "gene_name": "ST6GALNAC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15907-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 1", "gene_name": "ST6GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UNP4-1", "protein_name": "Lactosylceramide alpha-2,3-sialyltransferase", "gene_name": "ST3GAL5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92185-1", "protein_name": "Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase", "gene_name": "ST8SIA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92186-1", "protein_name": "Alpha-2,8-sialyltransferase 8B", "gene_name": "ST8SIA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BVH7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5", "gene_name": "ST6GALNAC5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11203-1", "protein_name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase", "gene_name": "ST3GAL3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q969X2-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6", "gene_name": "ST6GALNAC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96JF0-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 2", "gene_name": "ST6GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H4F1-1", "protein_name": "Alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase", "gene_name": "ST6GALNAC4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16278-1", "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y274-1", "protein_name": "Type 2 lactosamine alpha-2,3-sialyltransferase", "gene_name": "ST3GAL6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61647-1", "protein_name": "Alpha-2,8-sialyltransferase 8F", "gene_name": "ST8SIA6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92187-1", "protein_name": "CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase", "gene_name": "ST8SIA4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43173-1", "protein_name": "Alpha-N-acetylneuraminate alpha-2,8-sialyltransferase ST8SIA3", "gene_name": "ST8SIA3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NR45-1", "protein_name": "N-acetylneuraminate-9-phosphate synthase", "gene_name": "NANS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99519-1", "protein_name": "Sialidase-1", "gene_name": "NEU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WWR8-1", "protein_name": "Sialidase-4", "gene_name": "NEU4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y223-1", "protein_name": "Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase", "gene_name": "GNE", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NFW8-1", "protein_name": "N-acylneuraminate cytidylyltransferase", "gene_name": "CMAS", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P78382", "url": "https://www.uniprot.org/uniprotkb/P78382" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.18632803", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 33 } ], "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": "Tumor suppressor function of laminin-binding alpha-dystroglycan requires a distinct beta3-N-acetylglucosaminyltransferase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Bao X, Kobayashi M, Hatakeyama S, Angata K, Gullberg D, Nakayama J, Fukuda MN, Fukuda M", "reference": { "type": "PubMed", "id": "19587235", "url": "https://pubmed.ncbi.nlm.nih.gov/19587235" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P78382-1", "protein_name": "CMP-sialic acid transporter", "gene_name": "SLC35A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43529-1", "protein_name": "Carbohydrate sulfotransferase 10", "gene_name": "CHST10", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75072-1", "protein_name": "Ribitol-5-phosphate transferase FKTN", "gene_name": "FKTN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H9S5-1", "protein_name": "Ribitol 5-phosphate transferase FKRP", "gene_name": "FKRP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96G79-1", "protein_name": "Probable UDP-sugar transporter protein SLC35A4", "gene_name": "SLC35A4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43505-1", "protein_name": "Beta-1,4-glucuronyltransferase 1", "gene_name": "B4GAT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N3Y3-1", "protein_name": "Xylosyl- and glucuronyltransferase LARGE2", "gene_name": "LARGE2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14118-1", "protein_name": "Dystroglycan 1", "gene_name": "DAG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WZA1-1", "protein_name": "Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1", "gene_name": "POMGNT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95461-1", "protein_name": "Xylosyl- and glucuronyltransferase LARGE1", "gene_name": "LARGE1", "tax_name": "Human" }, { "uniprot_canonical_ac": "A4D126-1", "protein_name": "D-ribitol-5-phosphate cytidylyltransferase", "gene_name": "CRPPA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2B1-1", "protein_name": "Ribitol-5-phosphate xylosyltransferase 1", "gene_name": "RXYLT1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P78382", "url": "https://www.uniprot.org/uniprotkb/P78382" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.19587235", "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": "Human sialidase NEU4 long and short are extrinsic proteins bound to outer mitochondrial membrane and the endoplasmic reticulum, respectively.", "journal": "Glycobiology", "date": "2010", "authors": "Bigi A, Morosi L, Pozzi C, Forcella M, Tettamanti G, Venerando B, Monti E, Fusi P", "reference": { "type": "PubMed", "id": "19797320", "url": "https://pubmed.ncbi.nlm.nih.gov/19797320" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P78382-1", "protein_name": "CMP-sialic acid transporter", "gene_name": "SLC35A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15466-1", "protein_name": "Alpha-2,8-sialyltransferase 8E", "gene_name": "ST8SIA5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BXD5-1", "protein_name": "N-acetylneuraminate lyase", "gene_name": "NPL", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRA2-1", "protein_name": "Sialin", "gene_name": "SLC17A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TBE9-1", "protein_name": "N-acylneuraminate-9-phosphatase", "gene_name": "NANP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UQ49-1", "protein_name": "Sialidase-3", "gene_name": "NEU3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y3R4-1", "protein_name": "Sialidase-2", "gene_name": "NEU2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10619-1", "protein_name": "Lysosomal protective protein", "gene_name": "CTSA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11201-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1", "gene_name": "ST3GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NSC7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1", "gene_name": "ST6GALNAC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11206-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4", "gene_name": "ST3GAL4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NDV1-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3", "gene_name": "ST6GALNAC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16842-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2", "gene_name": "ST3GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UJ37-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2", "gene_name": "ST6GALNAC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15907-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 1", "gene_name": "ST6GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UNP4-1", "protein_name": "Lactosylceramide alpha-2,3-sialyltransferase", "gene_name": "ST3GAL5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92185-1", "protein_name": "Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase", "gene_name": "ST8SIA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92186-1", "protein_name": "Alpha-2,8-sialyltransferase 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"url": "https://www.omim.org/entry/614643" }, { "id": "ISPD", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/ISPD/#!details" }, { "id": "0111234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111234" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000100000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "A4D126-1" } ], "record_id": "pubmed.22522420", "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": 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"count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "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 Insights into Selected Disease-Causing Mutations within the SLC35A1 Gene Encoding the CMP-Sialic Acid Transporter.", "journal": "International journal of molecular sciences", "date": "2020", "authors": "Szulc B, Zadorozhna Y, Olczak M, Wiertelak W, Maszczak-Seneczko D", "reference": { "type": 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"count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_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 promiscuous binding pocket of SLC35A1 ensures redundant transport of CDP-ribitol to the Golgi.", "journal": "The Journal of biological chemistry", "date": "2021", "authors": "Ury B, Potelle S, Caligiore F, Whorton MR, Bommer GT", "reference": { "type": "PubMed", "id": "34015330", "url": "https://pubmed.ncbi.nlm.nih.gov/34015330" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P78382-1", "protein_name": "CMP-sialic acid transporter", "gene_name": "SLC35A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43529-1", "protein_name": "Carbohydrate sulfotransferase 10", "gene_name": "CHST10", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75072-1", "protein_name": "Ribitol-5-phosphate transferase FKTN", "gene_name": "FKTN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H9S5-1", "protein_name": "Ribitol 5-phosphate transferase FKRP", "gene_name": "FKRP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q61420-1", "protein_name": "CMP-sialic acid transporter", "gene_name": "Slc35a1", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q96G79-1", "protein_name": "Probable UDP-sugar transporter protein SLC35A4", "gene_name": "SLC35A4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43505-1", "protein_name": "Beta-1,4-glucuronyltransferase 1", "gene_name": "B4GAT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N3Y3-1", "protein_name": "Xylosyl- and glucuronyltransferase LARGE2", "gene_name": "LARGE2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14118-1", "protein_name": "Dystroglycan 1", "gene_name": "DAG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WZA1-1", "protein_name": "Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1", "gene_name": "POMGNT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95461-1", "protein_name": "Xylosyl- and glucuronyltransferase LARGE1", "gene_name": "LARGE1", "tax_name": "Human" }, { "uniprot_canonical_ac": "A4D126-1", "protein_name": "D-ribitol-5-phosphate cytidylyltransferase", "gene_name": "CRPPA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2B1-1", "protein_name": "Ribitol-5-phosphate xylosyltransferase 1", "gene_name": "RXYLT1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P78382", "url": "https://www.uniprot.org/uniprotkb/P78382" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 105, "end_pos": 105, "sequence_org": "A", "sequence_mut": "V", "comment": "No effect on CDP-ribitol and CMP-sialic acid transport activity.", "evidence": [ { "database": "UniProtKB", "id": "Q61420", "url": "https://www.uniprot.org/uniprotkb/Q61420" }, { "database": "PubMed", "id": "34015330", "url": "https://pubmed.ncbi.nlm.nih.gov/34015330" } ], "uniprot_canonical_ac": "Q61420-1" }, { "start_pos": 118, "end_pos": 118, "sequence_org": "Q", "sequence_mut": "A", "comment": "No effect on CDP-ribitol and CMP-sialic acid transport activity.", "evidence": [ { "database": "UniProtKB", "id": "Q61420", "url": "https://www.uniprot.org/uniprotkb/Q61420" }, { "database": "PubMed", "id": "34015330", "url": "https://pubmed.ncbi.nlm.nih.gov/34015330" } ], "uniprot_canonical_ac": "Q61420-1" }, { "start_pos": 121, "end_pos": 121, "sequence_org": "Y", "sequence_mut": "S", "comment": "No effect on CDP-ribitol and CMP-sialic acid transport activity.", "evidence": [ { "database": "UniProtKB", "id": "Q61420", "url": "https://www.uniprot.org/uniprotkb/Q61420" }, { "database": "PubMed", "id": "34015330", "url": 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"comment": "No effect on CDP-ribitol and CMP-sialic acid transport activity.", "evidence": [ { "database": "UniProtKB", "id": "Q61420", "url": "https://www.uniprot.org/uniprotkb/Q61420" }, { "database": "PubMed", "id": "34015330", "url": "https://pubmed.ncbi.nlm.nih.gov/34015330" } ], "uniprot_canonical_ac": "Q61420-1" }, { "start_pos": 24, "end_pos": 24, "sequence_org": "A", "sequence_mut": "Y", "comment": "Loss of CMP-sialic acid transport activity but no effect on CDP-ribitol transport activity.", "evidence": [ { "database": "UniProtKB", "id": "Q61420", "url": "https://www.uniprot.org/uniprotkb/Q61420" }, { "database": "PubMed", "id": "34015330", "url": "https://pubmed.ncbi.nlm.nih.gov/34015330" } ], "uniprot_canonical_ac": "Q61420-1" }, { "start_pos": 253, "end_pos": 253, "sequence_org": "A", "sequence_mut": "Q", "comment": "No effect on CDP-ribitol and CMP-sialic acid transport activity.", "evidence": [ { "database": "UniProtKB", "id": "Q61420", "url": 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sapiens [9606]" } ], "record_id": "pubmed.34069698", "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": "Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation.", "journal": "Journal of the neurological sciences", "date": "1981", "authors": "Nonaka I, Sunohara N, Ishiura S, Satoyoshi E", "reference": { "type": "PubMed", "id": "7252518", "url": "https://pubmed.ncbi.nlm.nih.gov/7252518" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P78382-1", "protein_name": "CMP-sialic acid transporter", "gene_name": "SLC35A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15466-1", "protein_name": "Alpha-2,8-sialyltransferase 8E", "gene_name": "ST8SIA5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BXD5-1", "protein_name": "N-acetylneuraminate lyase", "gene_name": "NPL", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRA2-1", "protein_name": "Sialin", "gene_name": "SLC17A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TBE9-1", "protein_name": "N-acylneuraminate-9-phosphatase", "gene_name": "NANP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UQ49-1", "protein_name": "Sialidase-3", "gene_name": "NEU3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y3R4-1", "protein_name": "Sialidase-2", "gene_name": "NEU2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10619-1", "protein_name": "Lysosomal protective protein", "gene_name": "CTSA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11201-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1", "gene_name": "ST3GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NSC7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1", "gene_name": "ST6GALNAC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11206-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4", "gene_name": "ST3GAL4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NDV1-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3", "gene_name": "ST6GALNAC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16842-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2", 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"count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": 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"NEU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WWR8-1", "protein_name": "Sialidase-4", "gene_name": "NEU4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y223-1", "protein_name": "Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase", "gene_name": "GNE", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NFW8-1", "protein_name": "N-acylneuraminate cytidylyltransferase", "gene_name": "CMAS", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P78382", "url": "https://www.uniprot.org/uniprotkb/P78382" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7559389", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 33 } ], "sort_fields": [ 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GD3 AND GT3 are synthesized by a single enzyme.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Nakayama J, Fukuda MN, Hirabayashi Y, Kanamori A, Sasaki K, Nishi T, Fukuda M", "reference": { "type": "PubMed", "id": "8631981", "url": "https://pubmed.ncbi.nlm.nih.gov/8631981" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P78382-1", "protein_name": "CMP-sialic acid transporter", "gene_name": "SLC35A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15466-1", "protein_name": "Alpha-2,8-sialyltransferase 8E", "gene_name": "ST8SIA5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BXD5-1", "protein_name": "N-acetylneuraminate lyase", "gene_name": "NPL", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRA2-1", "protein_name": "Sialin", "gene_name": "SLC17A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TBE9-1", "protein_name": "N-acylneuraminate-9-phosphatase", "gene_name": "NANP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UQ49-1", "protein_name": "Sialidase-3", "gene_name": "NEU3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y3R4-1", "protein_name": "Sialidase-2", "gene_name": "NEU2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10619-1", "protein_name": "Lysosomal protective protein", "gene_name": "CTSA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11201-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1", "gene_name": "ST3GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NSC7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1", "gene_name": "ST6GALNAC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11206-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4", "gene_name": "ST3GAL4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NDV1-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3", "gene_name": "ST6GALNAC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16842-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2", "gene_name": "ST3GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UJ37-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2", "gene_name": "ST6GALNAC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15907-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 1", "gene_name": "ST6GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UNP4-1", "protein_name": "Lactosylceramide alpha-2,3-sialyltransferase", "gene_name": "ST3GAL5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92185-1", "protein_name": "Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase", "gene_name": "ST8SIA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92186-1", "protein_name": "Alpha-2,8-sialyltransferase 8B", "gene_name": "ST8SIA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BVH7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5", "gene_name": "ST6GALNAC5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11203-1", "protein_name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase", "gene_name": "ST3GAL3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q969X2-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6", "gene_name": "ST6GALNAC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96JF0-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 2", "gene_name": "ST6GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H4F1-1", "protein_name": "Alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase", "gene_name": "ST6GALNAC4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16278-1", "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y274-1", "protein_name": "Type 2 lactosamine alpha-2,3-sialyltransferase", "gene_name": "ST3GAL6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61647-1", "protein_name": "Alpha-2,8-sialyltransferase 8F", "gene_name": "ST8SIA6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92187-1", "protein_name": "CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase", "gene_name": "ST8SIA4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43173-1", "protein_name": "Alpha-N-acetylneuraminate alpha-2,8-sialyltransferase ST8SIA3", "gene_name": "ST8SIA3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NR45-1", "protein_name": "N-acetylneuraminate-9-phosphate synthase", "gene_name": "NANS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99519-1", "protein_name": "Sialidase-1", "gene_name": "NEU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WWR8-1", "protein_name": "Sialidase-4", "gene_name": "NEU4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y223-1", "protein_name": "Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase", "gene_name": "GNE", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NFW8-1", "protein_name": "N-acylneuraminate cytidylyltransferase", "gene_name": "CMAS", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P78382", "url": "https://www.uniprot.org/uniprotkb/P78382" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8631981", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 33 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], 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"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 alpha2,8-sialyltransferase (hST8Sia V).", "journal": "Biochemical and biophysical research communications", "date": "1997", "authors": "Kim YJ, Kim KS, Do S, Kim CH, Kim SK, Lee YC", "reference": { "type": "PubMed", "id": "9199191", "url": "https://pubmed.ncbi.nlm.nih.gov/9199191" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P78382-1", "protein_name": "CMP-sialic acid transporter", "gene_name": "SLC35A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15466-1", "protein_name": "Alpha-2,8-sialyltransferase 8E", "gene_name": "ST8SIA5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BXD5-1", "protein_name": "N-acetylneuraminate lyase", "gene_name": "NPL", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRA2-1", "protein_name": "Sialin", "gene_name": "SLC17A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TBE9-1", "protein_name": "N-acylneuraminate-9-phosphatase", "gene_name": "NANP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UQ49-1", "protein_name": "Sialidase-3", "gene_name": "NEU3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y3R4-1", "protein_name": "Sialidase-2", "gene_name": "NEU2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10619-1", "protein_name": "Lysosomal protective protein", "gene_name": "CTSA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11201-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1", "gene_name": "ST3GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NSC7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1", "gene_name": "ST6GALNAC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11206-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4", "gene_name": "ST3GAL4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NDV1-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3", "gene_name": "ST6GALNAC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16842-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2", "gene_name": "ST3GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UJ37-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2", "gene_name": "ST6GALNAC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15907-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 1", "gene_name": "ST6GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UNP4-1", "protein_name": "Lactosylceramide alpha-2,3-sialyltransferase", "gene_name": "ST3GAL5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92185-1", "protein_name": "Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase", "gene_name": "ST8SIA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92186-1", "protein_name": "Alpha-2,8-sialyltransferase 8B", "gene_name": "ST8SIA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75752-1", "protein_name": "UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1", "gene_name": "B3GALNT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BVH7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5", "gene_name": "ST6GALNAC5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11203-1", "protein_name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase", "gene_name": "ST3GAL3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q969X2-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6", "gene_name": "ST6GALNAC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96JF0-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 2", "gene_name": "ST6GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H4F1-1", "protein_name": "Alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase", "gene_name": "ST6GALNAC4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16278-1", "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43286-1", "protein_name": "Beta-1,4-galactosyltransferase 5", "gene_name": "B4GALT5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16880-1", "protein_name": "2-hydroxyacylsphingosine 1-beta-galactosyltransferase", "gene_name": "UGT8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16739-1", "protein_name": "Ceramide glucosyltransferase", "gene_name": "UGCG", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TCT0-1", "protein_name": "Ceramide kinase", "gene_name": "CERK", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y274-1", "protein_name": "Type 2 lactosamine alpha-2,3-sialyltransferase", "gene_name": "ST3GAL6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61647-1", "protein_name": "Alpha-2,8-sialyltransferase 8F", "gene_name": "ST8SIA6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92187-1", "protein_name": "CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase", "gene_name": "ST8SIA4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43173-1", "protein_name": "Alpha-N-acetylneuraminate alpha-2,8-sialyltransferase ST8SIA3", "gene_name": "ST8SIA3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NR45-1", "protein_name": "N-acetylneuraminate-9-phosphate synthase", "gene_name": "NANS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99519-1", "protein_name": "Sialidase-1", "gene_name": "NEU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WWR8-1", "protein_name": "Sialidase-4", "gene_name": "NEU4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99999-1", "protein_name": "Galactosylceramide sulfotransferase", "gene_name": "GAL3ST1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P19526-1", "protein_name": "Galactoside alpha-(1,2)-fucosyltransferase 1", "gene_name": "FUT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q10981-1", "protein_name": "Galactoside alpha-(1,2)-fucosyltransferase 2", "gene_name": "FUT2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O96024-1", "protein_name": "Beta-1,3-galactosyltransferase 4", "gene_name": "B3GALT4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y223-1", "protein_name": "Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase", "gene_name": "GNE", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UBX8-1", "protein_name": "Beta-1,4-galactosyltransferase 6", "gene_name": "B4GALT6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BYG0-1", "protein_name": "Lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase", "gene_name": "B3GNT5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NFW8-1", "protein_name": "N-acylneuraminate cytidylyltransferase", "gene_name": "CMAS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q00973-1", "protein_name": "Beta-1,4 N-acetylgalactosaminyltransferase 1", "gene_name": "B4GALNT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NPC4-1", "protein_name": "Lactosylceramide 4-alpha-galactosyltransferase", "gene_name": "A4GALT", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P78382", "url": "https://www.uniprot.org/uniprotkb/P78382" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9199191", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 46 } ], "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": "Expression cloning and functional characterization of human cDNA for ganglioside GM3 synthase.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Ishii A, Ohta M, Watanabe Y, Matsuda K, Ishiyama K, Sakoe K, Nakamura M, Inokuchi J, Sanai Y, Saito M", "reference": { "type": "PubMed", "id": "9822625", "url": "https://pubmed.ncbi.nlm.nih.gov/9822625" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P78382-1", "protein_name": "CMP-sialic acid transporter", "gene_name": "SLC35A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15466-1", "protein_name": "Alpha-2,8-sialyltransferase 8E", "gene_name": "ST8SIA5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BXD5-1", "protein_name": "N-acetylneuraminate lyase", "gene_name": "NPL", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRA2-1", "protein_name": "Sialin", "gene_name": "SLC17A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TBE9-1", "protein_name": "N-acylneuraminate-9-phosphatase", "gene_name": "NANP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UQ49-1", "protein_name": "Sialidase-3", "gene_name": "NEU3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y3R4-1", "protein_name": "Sialidase-2", "gene_name": "NEU2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10619-1", "protein_name": "Lysosomal protective protein", "gene_name": "CTSA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11201-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1", "gene_name": "ST3GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NSC7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1", "gene_name": "ST6GALNAC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11206-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4", "gene_name": "ST3GAL4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NDV1-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3", "gene_name": "ST6GALNAC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16842-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2", "gene_name": "ST3GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UJ37-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2", "gene_name": "ST6GALNAC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15907-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 1", "gene_name": "ST6GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UNP4-1", "protein_name": "Lactosylceramide alpha-2,3-sialyltransferase", "gene_name": "ST3GAL5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92185-1", "protein_name": "Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase", "gene_name": "ST8SIA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92186-1", "protein_name": "Alpha-2,8-sialyltransferase 8B", "gene_name": "ST8SIA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75752-1", "protein_name": "UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1", "gene_name": "B3GALNT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BVH7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5", "gene_name": "ST6GALNAC5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11203-1", "protein_name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase", "gene_name": "ST3GAL3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q969X2-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6", "gene_name": "ST6GALNAC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96JF0-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 2", "gene_name": "ST6GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H4F1-1", "protein_name": "Alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase", "gene_name": "ST6GALNAC4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16278-1", "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43286-1", "protein_name": "Beta-1,4-galactosyltransferase 5", "gene_name": "B4GALT5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16880-1", "protein_name": "2-hydroxyacylsphingosine 1-beta-galactosyltransferase", "gene_name": "UGT8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16739-1", "protein_name": "Ceramide glucosyltransferase", "gene_name": "UGCG", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TCT0-1", "protein_name": "Ceramide kinase", "gene_name": "CERK", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y274-1", "protein_name": "Type 2 lactosamine alpha-2,3-sialyltransferase", "gene_name": "ST3GAL6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61647-1", "protein_name": "Alpha-2,8-sialyltransferase 8F", "gene_name": "ST8SIA6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92187-1", "protein_name": "CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase", "gene_name": "ST8SIA4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43173-1", "protein_name": "Alpha-N-acetylneuraminate alpha-2,8-sialyltransferase ST8SIA3", "gene_name": "ST8SIA3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NR45-1", "protein_name": "N-acetylneuraminate-9-phosphate synthase", "gene_name": "NANS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99519-1", "protein_name": "Sialidase-1", "gene_name": "NEU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WWR8-1", "protein_name": "Sialidase-4", "gene_name": "NEU4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99999-1", "protein_name": "Galactosylceramide sulfotransferase", "gene_name": "GAL3ST1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P19526-1", "protein_name": "Galactoside alpha-(1,2)-fucosyltransferase 1", "gene_name": "FUT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q10981-1", "protein_name": "Galactoside alpha-(1,2)-fucosyltransferase 2", "gene_name": "FUT2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O96024-1", "protein_name": "Beta-1,3-galactosyltransferase 4", "gene_name": "B3GALT4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y223-1", "protein_name": "Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase", "gene_name": "GNE", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UBX8-1", "protein_name": "Beta-1,4-galactosyltransferase 6", "gene_name": "B4GALT6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BYG0-1", "protein_name": "Lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase", "gene_name": "B3GNT5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NFW8-1", "protein_name": "N-acylneuraminate cytidylyltransferase", "gene_name": "CMAS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q00973-1", "protein_name": "Beta-1,4 N-acetylgalactosaminyltransferase 1", "gene_name": "B4GALNT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NPC4-1", "protein_name": "Lactosylceramide 4-alpha-galactosyltransferase", "gene_name": "A4GALT", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P78382", "url": "https://www.uniprot.org/uniprotkb/P78382" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9822625", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 46 } ], "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": "Cloning and expression of cDNA for a human Sia alpha 2,3Gal beta 1, 4GlcNA:alpha 2,8-sialyltransferase (hST8Sia III).", "journal": "Archives of biochemistry and biophysics", "date": "1998", "authors": "Lee YC, Kim YJ, Lee KY, Kim KS, Kim BU, Kim HN, Kim CH, Do SI", "reference": { "type": "PubMed", "id": "9826427", "url": "https://pubmed.ncbi.nlm.nih.gov/9826427" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P78382-1", "protein_name": "CMP-sialic acid transporter", "gene_name": "SLC35A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15466-1", "protein_name": "Alpha-2,8-sialyltransferase 8E", "gene_name": "ST8SIA5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BXD5-1", "protein_name": "N-acetylneuraminate lyase", "gene_name": "NPL", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRA2-1", "protein_name": "Sialin", "gene_name": "SLC17A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TBE9-1", "protein_name": "N-acylneuraminate-9-phosphatase", "gene_name": "NANP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UQ49-1", "protein_name": "Sialidase-3", "gene_name": "NEU3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y3R4-1", "protein_name": "Sialidase-2", "gene_name": "NEU2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10619-1", "protein_name": "Lysosomal protective protein", "gene_name": "CTSA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11201-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1", "gene_name": "ST3GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NSC7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1", "gene_name": "ST6GALNAC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11206-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4", "gene_name": "ST3GAL4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NDV1-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3", "gene_name": "ST6GALNAC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16842-1", "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2", "gene_name": "ST3GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UJ37-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2", "gene_name": "ST6GALNAC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15907-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 1", "gene_name": "ST6GAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UNP4-1", "protein_name": "Lactosylceramide alpha-2,3-sialyltransferase", "gene_name": "ST3GAL5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92185-1", "protein_name": "Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase", "gene_name": "ST8SIA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92186-1", "protein_name": "Alpha-2,8-sialyltransferase 8B", "gene_name": "ST8SIA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BVH7-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5", "gene_name": "ST6GALNAC5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q11203-1", "protein_name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase", "gene_name": "ST3GAL3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q969X2-1", "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6", "gene_name": "ST6GALNAC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96JF0-1", "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 2", "gene_name": "ST6GAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H4F1-1", "protein_name": "Alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase", "gene_name": "ST6GALNAC4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16278-1", "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y274-1", "protein_name": "Type 2 lactosamine alpha-2,3-sialyltransferase", "gene_name": "ST3GAL6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61647-1", "protein_name": "Alpha-2,8-sialyltransferase 8F", "gene_name": "ST8SIA6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92187-1", "protein_name": "CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase", "gene_name": "ST8SIA4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43173-1", "protein_name": "Alpha-N-acetylneuraminate alpha-2,8-sialyltransferase ST8SIA3", "gene_name": "ST8SIA3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NR45-1", "protein_name": "N-acetylneuraminate-9-phosphate synthase", "gene_name": "NANS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99519-1", "protein_name": "Sialidase-1", "gene_name": "NEU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WWR8-1", "protein_name": "Sialidase-4", "gene_name": "NEU4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y223-1", "protein_name": "Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase", "gene_name": "GNE", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NFW8-1", "protein_name": "N-acylneuraminate cytidylyltransferase", "gene_name": "CMAS", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P78382", "url": "https://www.uniprot.org/uniprotkb/P78382" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9826427", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 33 } ], "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": "Coupling of coat assembly and vesicle budding to packaging of putative cargo receptors.", "journal": "Cell", "date": "1999", "authors": "Bremser M, Nickel W, Schweikert M, Ravazzola M, Amherdt M, Hughes CA, Sollner TH, Rothman JE, Wieland FT", "reference": { "type": "PubMed", "id": "10052452", "url": "https://pubmed.ncbi.nlm.nih.gov/10052452" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q12981-4", "protein_name": "Vesicle transport protein SEC20", "gene_name": "BNIP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15498-1", "protein_name": "Synaptobrevin homolog YKT6", "gene_name": "YKT6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12893-1", "protein_name": "Transmembrane protein 115", "gene_name": "TMEM115", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6ZMV9-1", "protein_name": "Kinesin-like protein KIF6", "gene_name": "KIF6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NI77-1", "protein_name": "Kinesin-like protein KIF18A", "gene_name": "KIF18A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H115-1", "protein_name": "Beta-soluble NSF attachment protein", "gene_name": "NAPB", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14203-1", "protein_name": "Dynactin subunit 1", "gene_name": "DCTN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16157-1", "protein_name": "Ankyrin-1", "gene_name": "ANK1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HAQ2-1", "protein_name": "Kinesin-like protein KIF9", "gene_name": "KIF9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q01484-4", "protein_name": "Ankyrin-2", "gene_name": "ANK2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12955-3", "protein_name": "Ankyrin-3", "gene_name": "ANK3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N6H7-1", "protein_name": "ADP-ribosylation factor GTPase-activating protein 2", "gene_name": "ARFGAP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y496-1", "protein_name": "Kinesin-like protein KIF3A", "gene_name": "KIF3A", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15066-1", "protein_name": "Kinesin-like protein KIF3B", "gene_name": "KIF3B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P84085-1", "protein_name": "ADP-ribosylation factor 5", "gene_name": "ARF5", "tax_name": "Human" }, { "uniprot_canonical_ac": "P84077-1", "protein_name": "ADP-ribosylation factor 1", "gene_name": "ARF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N6T3-1", "protein_name": "ADP-ribosylation factor GTPase-activating protein 1", "gene_name": "ARFGAP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NZ32-1", "protein_name": "Actin-related protein 10", "gene_name": "ACTR10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P68363-1", "protein_name": "Tubulin alpha-1B chain", "gene_name": "TUBA1B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6PEY2-1", "protein_name": "Tubulin alpha-3E chain", "gene_name": "TUBA3E", "tax_name": "Human" }, { "uniprot_canonical_ac": "P53621-1", "protein_name": "Coatomer subunit alpha", "gene_name": "COPA", "tax_name": "Human" }, { "uniprot_canonical_ac": "P68366-1", "protein_name": "Tubulin alpha-4A chain", "gene_name": "TUBA4A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P35606-1", "protein_name": "Coatomer subunit beta'", "gene_name": "COPB2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q71U36-1", "protein_name": "Tubulin alpha-1A chain", "gene_name": "TUBA1A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61923-1", "protein_name": "Coatomer subunit zeta-1", "gene_name": "COPZ1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P48444-1", "protein_name": "Coatomer subunit delta", "gene_name": "ARCN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95235-1", "protein_name": "Kinesin-like protein KIF20A", "gene_name": "KIF20A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P33947-1", "protein_name": "ER lumen protein-retaining receptor 2", "gene_name": "KDELR2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O00399-1", "protein_name": "Dynactin subunit 6", "gene_name": "DCTN6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14789-1", "protein_name": "Golgin subfamily B member 1", "gene_name": "GOLGB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "A2RRP1-1", "protein_name": "NBAS subunit of NRZ tethering complex", "gene_name": "NBAS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BVA1-1", "protein_name": "Tubulin beta-2B chain", "gene_name": "TUBB2B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96MW5-1", "protein_name": "Conserved oligomeric Golgi complex subunit 8", "gene_name": "COG8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P54920-1", "protein_name": "Alpha-soluble NSF attachment protein", "gene_name": "NAPA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P2W9-1", "protein_name": "Syntaxin-18", "gene_name": "STX18", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75396-1", "protein_name": "Vesicle-trafficking protein SEC22b", "gene_name": "SEC22B", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43264-1", "protein_name": "Centromere/kinetochore protein zw10 homolog", "gene_name": "ZW10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P53618-1", "protein_name": "Coatomer subunit beta", "gene_name": "COPB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q01082-1", "protein_name": "Spectrin beta chain, non-erythrocytic 1", "gene_name": "SPTBN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H254-1", "protein_name": "Spectrin beta chain, non-erythrocytic 4", "gene_name": "SPTBN4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2V7-1", "protein_name": "Conserved oligomeric Golgi complex subunit 6", "gene_name": "COG6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6NUQ1-1", "protein_name": "RAD50-interacting protein 1", "gene_name": "RINT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P47756-2", "protein_name": "F-actin-capping protein subunit beta", "gene_name": "CAPZB", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NYM9-1", "protein_name": "BET1-like protein", "gene_name": "BET1L", "tax_name": "Human" }, { "uniprot_canonical_ac": "P47755-1", "protein_name": "F-actin-capping protein subunit alpha-2", "gene_name": "CAPZA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P52907-1", "protein_name": "F-actin-capping protein subunit alpha-1", "gene_name": "CAPZA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13409-1", "protein_name": "Cytoplasmic dynein 1 intermediate chain 2", "gene_name": "DYNC1I2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14576-1", "protein_name": "Cytoplasmic dynein 1 intermediate chain 1", "gene_name": "DYNC1I1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08174-1", "protein_name": "Complement decay-accelerating factor", "gene_name": "CD55", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y6G9-1", "protein_name": "Cytoplasmic dynein 1 light intermediate chain 1", "gene_name": "DYNC1LI1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15260-1", "protein_name": "Surfeit locus protein 4", "gene_name": "SURF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75037-1", "protein_name": "Kinesin-like protein KIF21B", "gene_name": "KIF21B", "tax_name": "Human" }, { "uniprot_canonical_ac": "B7ZC32-1", "protein_name": "Kinesin-like protein KIF28P", "gene_name": "KIF28P", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14782-1", "protein_name": "Kinesin-like protein KIF3C", "gene_name": "KIF3C", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95239-1", "protein_name": "Chromosome-associated kinesin KIF4A", "gene_name": "KIF4A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12756-1", "protein_name": "Kinesin-like protein KIF1A", "gene_name": "KIF1A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96FN5-1", "protein_name": "Kinesin-like protein KIF12", "gene_name": "KIF12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2TAC6-1", "protein_name": "Kinesin-like protein KIF19", "gene_name": "KIF19", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2VIQ3-1", "protein_name": "Chromosome-associated kinesin KIF4B", "gene_name": "KIF4B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86VH2-1", "protein_name": "Kinesin-like protein KIF27", "gene_name": "KIF27", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N4N8-1", "protein_name": "Kinesin-like protein KIF2B", "gene_name": "KIF2B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92845-1", "protein_name": "Kinesin-associated protein 3", "gene_name": "KIFAP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96L93-1", "protein_name": "Kinesin-like protein KIF16B", "gene_name": "KIF16B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96Q89-1", "protein_name": "Kinesin-like protein KIF20B", "gene_name": "KIF20B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BW19-1", "protein_name": "Kinesin-like protein KIFC1", "gene_name": "KIFC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9ULI4-1", "protein_name": "Kinesin-like protein KIF26A", "gene_name": "KIF26A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P49755-1", "protein_name": "Transmembrane emp24 domain-containing protein 10", "gene_name": "TMED10", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86Y91-5", "protein_name": "Kinesin-like protein KIF18B", "gene_name": "KIF18B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11277-1", "protein_name": "Spectrin beta chain, erythrocytic", "gene_name": "SPTB", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRC6-1", "protein_name": "Spectrin beta chain, non-erythrocytic 5", "gene_name": "SPTBN5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BUF5-1", "protein_name": "Tubulin beta-6 chain", "gene_name": "TUBB6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99747-1", "protein_name": "Gamma-soluble NSF attachment protein", "gene_name": "NAPG", "tax_name": "Human" }, { "uniprot_canonical_ac": "A6NNZ2-1", "protein_name": "Tubulin beta 8B", "gene_name": "TUBB8B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q3ZCM7-1", "protein_name": "Tubulin beta-8 chain", "gene_name": "TUBB8", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14653-1", "protein_name": "Golgi SNAP receptor complex member 2", "gene_name": "GOSR2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P46459-1", "protein_name": "Vesicle-fusing ATPase", "gene_name": "NSF", "tax_name": "Human" }, { "uniprot_canonical_ac": "P04350-1", "protein_name": "Tubulin beta-4A chain", "gene_name": "TUBB4A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H0U4-1", "protein_name": "Ras-related protein Rab-1B", "gene_name": "RAB1B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13885-1", "protein_name": "Tubulin beta-2A chain", "gene_name": "TUBB2A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H0H5-1", "protein_name": "Rac GTPase-activating protein 1", "gene_name": "RACGAP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02549-1", "protein_name": "Spectrin alpha chain, erythrocytic 1", "gene_name": "SPTA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q02241-1", "protein_name": "Kinesin-like protein KIF23", "gene_name": "KIF23", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NSK0-1", "protein_name": "Kinesin light chain 4", "gene_name": "KLC4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6P597-1", "protein_name": "Kinesin light chain 3", "gene_name": "KLC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61163-1", "protein_name": "Alpha-centractin", "gene_name": "ACTR1A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P63167-1", "protein_name": "Dynein light chain 1, cytoplasmic", "gene_name": "DYNLL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60763-1", "protein_name": "General vesicular transport factor p115", "gene_name": "USO1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P18085-1", "protein_name": "ADP-ribosylation factor 4", "gene_name": "ARF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61204-1", "protein_name": "ADP-ribosylation factor 3", "gene_name": "ARF3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP61-1", "protein_name": "ADP-ribosylation factor GTPase-activating protein 3", "gene_name": "ARFGAP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12840-1", "protein_name": "Kinesin heavy chain isoform 5A", "gene_name": "KIF5A", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14579-1", "protein_name": "Coatomer subunit epsilon", "gene_name": "COPE", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WTW3-1", "protein_name": "Conserved oligomeric Golgi complex subunit 1", "gene_name": "COG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13190-1", "protein_name": "Syntaxin-5", "gene_name": "STX5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92538-4", "protein_name": "Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1", "gene_name": "GBF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96JB2-1", "protein_name": "Conserved oligomeric Golgi complex subunit 3", "gene_name": "COG3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H9E3-1", "protein_name": "Conserved oligomeric Golgi complex subunit 4", "gene_name": "COG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P83436-1", "protein_name": "Conserved oligomeric Golgi complex subunit 7", "gene_name": "COG7", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14746-1", "protein_name": "Conserved oligomeric Golgi complex subunit 2", "gene_name": "COG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UBF2-1", "protein_name": "Coatomer subunit gamma-2", "gene_name": "COPG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UP83-2", "protein_name": "Conserved oligomeric Golgi complex subunit 5", "gene_name": "COG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y678-1", "protein_name": "Coatomer subunit gamma-1", "gene_name": "COPG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P299-1", "protein_name": "Coatomer subunit zeta-2", "gene_name": "COPZ2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43731-1", "protein_name": "ER lumen protein-retaining receptor 3", "gene_name": "KDELR3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P24390-1", "protein_name": "ER lumen protein-retaining receptor 1", "gene_name": "KDELR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H0B6-1", "protein_name": "Kinesin light chain 2", "gene_name": "KLC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P33176-1", "protein_name": "Kinesin-1 heavy chain", "gene_name": "KIF5B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15328-1", "protein_name": "Folate receptor alpha", "gene_name": "FOLR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P62820-1", "protein_name": "Ras-related protein Rab-1A", "gene_name": "RAB1A", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95249-1", "protein_name": "Golgi SNAP receptor complex member 1", "gene_name": "GOSR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P0DPH8-1", "protein_name": "Tubulin alpha-3D chain", "gene_name": "TUBA3D", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7Z4S6-1", "protein_name": "Kinesin-like protein KIF21A", "gene_name": "KIF21A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q07866-1", "protein_name": "Kinesin light chain 1", "gene_name": "KLC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13561-1", "protein_name": "Dynactin subunit 2", "gene_name": "DCTN2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UJW0-1", "protein_name": "Dynactin subunit 4", "gene_name": "DCTN4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96FJ2-1", "protein_name": "Dynein light chain 2, cytoplasmic", "gene_name": "DYNLL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BTE1-1", "protein_name": "Dynactin subunit 5", "gene_name": "DCTN5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NS87-1", "protein_name": "Kinesin-like protein KIF15", "gene_name": "KIF15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2KJY2-1", "protein_name": "Kinesin-like protein KIF26B", "gene_name": "KIF26B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P52732-1", "protein_name": "Kinesin-like protein KIF11", "gene_name": "KIF11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96AC6-1", "protein_name": "Kinesin-like protein KIFC2", "gene_name": "KIFC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UIL4-1", "protein_name": "Kinesin-like protein KIF25", "gene_name": "KIF25", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BVK6-1", "protein_name": "Transmembrane emp24 domain-containing protein 9", "gene_name": "TMED9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13509-1", "protein_name": "Tubulin beta-3 chain", "gene_name": "TUBB3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BQE3-1", "protein_name": "Tubulin alpha-1C chain", "gene_name": "TUBA1C", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15020-1", "protein_name": "Spectrin beta chain, non-erythrocytic 2", "gene_name": "SPTBN2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P68371-1", "protein_name": "Tubulin beta-4B chain", "gene_name": "TUBB4B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H4B7-1", "protein_name": "Tubulin beta-1 chain", "gene_name": "TUBB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H853-1", "protein_name": "Tubulin-like protein alpha-4B", "gene_name": "TUBA4B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y3Q3-1", "protein_name": "Transmembrane emp24 domain-containing protein 3", "gene_name": "TMED3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y3B3-1", "protein_name": "Transmembrane emp24 domain-containing protein 7", "gene_name": "TMED7", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q02224-1", "protein_name": "Centromere-associated protein E", "gene_name": "CENPE", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15155-1", "protein_name": "BET1 homolog", "gene_name": "BET1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13987-1", "protein_name": "CD59 glycoprotein", "gene_name": "CD59", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q15363-1", "protein_name": "Transmembrane emp24 domain-containing protein 2", "gene_name": "TMED2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96KX2-1", "protein_name": "F-actin-capping protein subunit alpha-3", "gene_name": "CAPZA3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60333-1", "protein_name": "Kinesin-like protein KIF1B", "gene_name": "KIF1B", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75935-1", "protein_name": "Dynactin subunit 3", "gene_name": "DCTN3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43237-1", "protein_name": "Cytoplasmic dynein 1 light intermediate chain 2", "gene_name": "DYNC1LI2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14204-1", "protein_name": "Cytoplasmic dynein 1 heavy chain 1", "gene_name": "DYNC1H1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O00139-3", "protein_name": "Kinesin-like protein KIF2A", "gene_name": "KIF2A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13813-1", "protein_name": "Spectrin alpha chain, non-erythrocytic 1", "gene_name": "SPTAN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P01308-1", "protein_name": "Insulin", "gene_name": "INS", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43896-1", "protein_name": "Kinesin-like protein KIF1C", "gene_name": "KIF1C", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14807-1", "protein_name": "Kinesin-like protein KIF22", "gene_name": "KIF22", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99661-1", "protein_name": "Kinesin-like protein KIF2C", "gene_name": "KIF2C", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NZ43-1", "protein_name": "Vesicle transport protein USE1", "gene_name": "USE1", "tax_name": "Human" }, { "uniprot_canonical_ac": "A6NHL2-1", "protein_name": "Tubulin alpha chain-like 3", "gene_name": "TUBAL3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NY65-1", "protein_name": "Tubulin alpha-8 chain", "gene_name": "TUBA8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P0DPH7-1", "protein_name": "Tubulin alpha-3C chain", "gene_name": "TUBA3C", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q08379-1", "protein_name": "Golgin subfamily A member 2", "gene_name": "GOLGA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BQQ3-1", "protein_name": "Golgi reassembly-stacking protein 1", "gene_name": "GORASP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NQT8-1", "protein_name": "Kinesin-like protein KIF13B", "gene_name": "KIF13B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q12981", "url": "https://www.uniprot.org/uniprotkb/Q12981" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10052452", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 153 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": 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"o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Novel BNIP1 variants and their interaction with BCL2 family members.", "journal": "FEBS Lett.", "date": "1999", "authors": "Zhang H, Heim J, Meyhack B", "reference": { "type": "PubMed", "id": "10217402", "url": "https://pubmed.ncbi.nlm.nih.gov/10217402" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q12981-4", "protein_name": "Vesicle transport protein SEC20", "gene_name": "BNIP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q12981", "url": "https://www.uniprot.org/uniprotkb/Q12981" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10217402", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], 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"uniprot_canonical_ac": "Q86Y91-5", "protein_name": "Kinesin-like protein KIF18B", "gene_name": "KIF18B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11277-1", "protein_name": "Spectrin beta chain, erythrocytic", "gene_name": "SPTB", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRC6-1", "protein_name": "Spectrin beta chain, non-erythrocytic 5", "gene_name": "SPTBN5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BUF5-1", "protein_name": "Tubulin beta-6 chain", "gene_name": "TUBB6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99747-1", "protein_name": "Gamma-soluble NSF attachment protein", "gene_name": "NAPG", "tax_name": "Human" }, { "uniprot_canonical_ac": "A6NNZ2-1", "protein_name": "Tubulin beta 8B", "gene_name": "TUBB8B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q3ZCM7-1", "protein_name": "Tubulin beta-8 chain", "gene_name": "TUBB8", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14653-1", "protein_name": "Golgi SNAP receptor complex member 2", "gene_name": "GOSR2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P46459-1", "protein_name": "Vesicle-fusing ATPase", "gene_name": "NSF", "tax_name": "Human" }, { "uniprot_canonical_ac": "P04350-1", "protein_name": "Tubulin beta-4A chain", "gene_name": "TUBB4A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H0U4-1", "protein_name": "Ras-related protein Rab-1B", "gene_name": "RAB1B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13885-1", "protein_name": "Tubulin beta-2A chain", "gene_name": "TUBB2A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H0H5-1", "protein_name": "Rac GTPase-activating protein 1", "gene_name": "RACGAP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02549-1", "protein_name": "Spectrin alpha chain, erythrocytic 1", "gene_name": "SPTA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q02241-1", "protein_name": "Kinesin-like protein KIF23", "gene_name": "KIF23", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NSK0-1", "protein_name": "Kinesin light chain 4", "gene_name": "KLC4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6P597-1", "protein_name": "Kinesin light chain 3", "gene_name": "KLC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61163-1", "protein_name": "Alpha-centractin", "gene_name": "ACTR1A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P63167-1", "protein_name": "Dynein light chain 1, cytoplasmic", "gene_name": "DYNLL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60763-1", "protein_name": "General vesicular transport factor p115", "gene_name": "USO1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P18085-1", "protein_name": "ADP-ribosylation factor 4", "gene_name": "ARF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61204-1", "protein_name": "ADP-ribosylation factor 3", "gene_name": "ARF3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP61-1", "protein_name": "ADP-ribosylation factor GTPase-activating protein 3", "gene_name": "ARFGAP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12840-1", "protein_name": "Kinesin heavy chain isoform 5A", "gene_name": "KIF5A", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14579-1", "protein_name": "Coatomer subunit epsilon", "gene_name": "COPE", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WTW3-1", "protein_name": "Conserved oligomeric Golgi complex subunit 1", "gene_name": "COG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13190-1", "protein_name": "Syntaxin-5", "gene_name": "STX5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92538-4", "protein_name": "Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1", "gene_name": "GBF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96JB2-1", "protein_name": "Conserved oligomeric Golgi complex subunit 3", "gene_name": "COG3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H9E3-1", "protein_name": "Conserved oligomeric Golgi complex subunit 4", "gene_name": "COG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P83436-1", "protein_name": "Conserved oligomeric Golgi complex subunit 7", "gene_name": "COG7", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14746-1", "protein_name": "Conserved oligomeric Golgi complex subunit 2", "gene_name": "COG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UBF2-1", "protein_name": "Coatomer subunit gamma-2", "gene_name": "COPG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UP83-2", "protein_name": "Conserved oligomeric Golgi complex subunit 5", "gene_name": "COG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y678-1", "protein_name": "Coatomer subunit gamma-1", "gene_name": "COPG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P299-1", "protein_name": "Coatomer subunit zeta-2", "gene_name": "COPZ2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43731-1", "protein_name": "ER lumen protein-retaining receptor 3", "gene_name": "KDELR3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P24390-1", "protein_name": "ER lumen protein-retaining receptor 1", "gene_name": "KDELR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H0B6-1", "protein_name": "Kinesin light chain 2", "gene_name": "KLC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P33176-1", "protein_name": "Kinesin-1 heavy chain", "gene_name": "KIF5B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15328-1", "protein_name": "Folate receptor alpha", "gene_name": "FOLR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P62820-1", "protein_name": "Ras-related protein Rab-1A", "gene_name": "RAB1A", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95249-1", "protein_name": "Golgi SNAP receptor complex member 1", "gene_name": "GOSR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P0DPH8-1", "protein_name": "Tubulin alpha-3D chain", "gene_name": "TUBA3D", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7Z4S6-1", "protein_name": "Kinesin-like protein KIF21A", "gene_name": "KIF21A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q07866-1", "protein_name": "Kinesin light chain 1", "gene_name": "KLC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13561-1", "protein_name": "Dynactin subunit 2", "gene_name": "DCTN2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UJW0-1", "protein_name": "Dynactin subunit 4", "gene_name": "DCTN4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96FJ2-1", "protein_name": "Dynein light chain 2, cytoplasmic", "gene_name": "DYNLL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BTE1-1", "protein_name": "Dynactin subunit 5", "gene_name": "DCTN5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NS87-1", "protein_name": "Kinesin-like protein KIF15", "gene_name": "KIF15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2KJY2-1", "protein_name": "Kinesin-like protein KIF26B", "gene_name": "KIF26B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P52732-1", "protein_name": "Kinesin-like protein KIF11", "gene_name": "KIF11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96AC6-1", "protein_name": "Kinesin-like protein KIFC2", "gene_name": "KIFC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UIL4-1", "protein_name": "Kinesin-like protein KIF25", "gene_name": "KIF25", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BVK6-1", "protein_name": "Transmembrane emp24 domain-containing protein 9", "gene_name": "TMED9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13509-1", "protein_name": "Tubulin beta-3 chain", "gene_name": "TUBB3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BQE3-1", "protein_name": "Tubulin alpha-1C chain", "gene_name": "TUBA1C", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15020-1", "protein_name": "Spectrin beta chain, non-erythrocytic 2", "gene_name": "SPTBN2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P68371-1", "protein_name": "Tubulin beta-4B chain", "gene_name": "TUBB4B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H4B7-1", "protein_name": "Tubulin beta-1 chain", "gene_name": "TUBB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H853-1", "protein_name": "Tubulin-like protein alpha-4B", "gene_name": "TUBA4B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y3Q3-1", "protein_name": "Transmembrane emp24 domain-containing protein 3", "gene_name": "TMED3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y3B3-1", "protein_name": "Transmembrane emp24 domain-containing protein 7", "gene_name": "TMED7", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q02224-1", "protein_name": "Centromere-associated protein E", "gene_name": "CENPE", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15155-1", "protein_name": "BET1 homolog", "gene_name": "BET1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13987-1", "protein_name": "CD59 glycoprotein", "gene_name": "CD59", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q15363-1", "protein_name": "Transmembrane emp24 domain-containing protein 2", "gene_name": "TMED2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96KX2-1", "protein_name": "F-actin-capping protein subunit alpha-3", "gene_name": "CAPZA3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60333-1", "protein_name": "Kinesin-like protein KIF1B", "gene_name": "KIF1B", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75935-1", "protein_name": "Dynactin subunit 3", "gene_name": "DCTN3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43237-1", "protein_name": "Cytoplasmic dynein 1 light intermediate chain 2", "gene_name": "DYNC1LI2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14204-1", "protein_name": "Cytoplasmic dynein 1 heavy chain 1", "gene_name": "DYNC1H1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O00139-3", "protein_name": "Kinesin-like protein KIF2A", "gene_name": "KIF2A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13813-1", "protein_name": "Spectrin alpha chain, non-erythrocytic 1", "gene_name": "SPTAN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P01308-1", "protein_name": "Insulin", "gene_name": "INS", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43896-1", "protein_name": "Kinesin-like protein KIF1C", "gene_name": "KIF1C", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14807-1", "protein_name": "Kinesin-like protein KIF22", "gene_name": "KIF22", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99661-1", "protein_name": "Kinesin-like protein KIF2C", "gene_name": "KIF2C", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NZ43-1", "protein_name": "Vesicle transport protein USE1", "gene_name": "USE1", "tax_name": "Human" }, { "uniprot_canonical_ac": "A6NHL2-1", "protein_name": "Tubulin alpha chain-like 3", "gene_name": "TUBAL3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NY65-1", "protein_name": "Tubulin alpha-8 chain", "gene_name": "TUBA8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P0DPH7-1", "protein_name": "Tubulin alpha-3C chain", "gene_name": "TUBA3C", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q08379-1", "protein_name": "Golgin subfamily A member 2", "gene_name": "GOLGA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BQQ3-1", "protein_name": "Golgi reassembly-stacking protein 1", "gene_name": "GORASP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NQT8-1", "protein_name": "Kinesin-like protein KIF13B", "gene_name": "KIF13B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q12981", "url": "https://www.uniprot.org/uniprotkb/Q12981" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10318838", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 153 } ], "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": "Decoding of sorting signals by coatomer through a GTPase switch in the COPI coat complex.", "journal": "Cell", "date": "2000", "authors": "Goldberg J", "reference": { "type": "PubMed", "id": "10761932", "url": "https://pubmed.ncbi.nlm.nih.gov/10761932" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q12981-4", "protein_name": "Vesicle transport protein SEC20", "gene_name": "BNIP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15498-1", "protein_name": "Synaptobrevin homolog YKT6", "gene_name": "YKT6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12893-1", "protein_name": "Transmembrane protein 115", "gene_name": "TMEM115", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6ZMV9-1", "protein_name": "Kinesin-like protein KIF6", "gene_name": "KIF6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NI77-1", "protein_name": "Kinesin-like protein KIF18A", "gene_name": "KIF18A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H115-1", "protein_name": "Beta-soluble NSF attachment protein", "gene_name": "NAPB", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14203-1", "protein_name": "Dynactin subunit 1", "gene_name": "DCTN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16157-1", "protein_name": "Ankyrin-1", "gene_name": "ANK1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HAQ2-1", "protein_name": "Kinesin-like protein KIF9", "gene_name": "KIF9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q01484-4", "protein_name": "Ankyrin-2", "gene_name": "ANK2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12955-3", "protein_name": "Ankyrin-3", "gene_name": "ANK3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N6H7-1", "protein_name": "ADP-ribosylation factor GTPase-activating protein 2", "gene_name": "ARFGAP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y496-1", "protein_name": "Kinesin-like protein KIF3A", "gene_name": "KIF3A", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15066-1", "protein_name": "Kinesin-like protein KIF3B", "gene_name": "KIF3B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P84085-1", "protein_name": "ADP-ribosylation factor 5", "gene_name": "ARF5", "tax_name": "Human" }, { "uniprot_canonical_ac": "P84077-1", "protein_name": "ADP-ribosylation factor 1", "gene_name": "ARF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N6T3-1", "protein_name": "ADP-ribosylation factor GTPase-activating protein 1", "gene_name": "ARFGAP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NZ32-1", "protein_name": "Actin-related protein 10", "gene_name": "ACTR10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P68363-1", "protein_name": "Tubulin alpha-1B chain", "gene_name": "TUBA1B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6PEY2-1", "protein_name": "Tubulin alpha-3E chain", "gene_name": "TUBA3E", "tax_name": "Human" }, { "uniprot_canonical_ac": "P53621-1", "protein_name": "Coatomer subunit alpha", "gene_name": "COPA", "tax_name": "Human" }, { "uniprot_canonical_ac": "P68366-1", "protein_name": "Tubulin alpha-4A chain", "gene_name": "TUBA4A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P35606-1", "protein_name": "Coatomer subunit beta'", "gene_name": "COPB2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q71U36-1", "protein_name": "Tubulin alpha-1A chain", "gene_name": "TUBA1A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61923-1", "protein_name": "Coatomer subunit zeta-1", "gene_name": "COPZ1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P48444-1", "protein_name": "Coatomer subunit delta", "gene_name": "ARCN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95235-1", "protein_name": "Kinesin-like protein KIF20A", "gene_name": "KIF20A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P33947-1", "protein_name": "ER lumen protein-retaining receptor 2", "gene_name": "KDELR2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O00399-1", "protein_name": "Dynactin subunit 6", "gene_name": "DCTN6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14789-1", "protein_name": "Golgin subfamily B member 1", "gene_name": "GOLGB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "A2RRP1-1", "protein_name": "NBAS subunit of NRZ tethering complex", "gene_name": "NBAS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BVA1-1", "protein_name": "Tubulin beta-2B chain", "gene_name": "TUBB2B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96MW5-1", "protein_name": "Conserved oligomeric Golgi complex subunit 8", "gene_name": "COG8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P54920-1", "protein_name": "Alpha-soluble NSF attachment protein", "gene_name": "NAPA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P2W9-1", "protein_name": "Syntaxin-18", "gene_name": "STX18", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75396-1", "protein_name": "Vesicle-trafficking protein SEC22b", "gene_name": "SEC22B", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43264-1", "protein_name": "Centromere/kinetochore protein zw10 homolog", "gene_name": "ZW10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P53618-1", "protein_name": "Coatomer subunit beta", "gene_name": "COPB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q01082-1", "protein_name": "Spectrin beta chain, non-erythrocytic 1", "gene_name": "SPTBN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H254-1", "protein_name": "Spectrin beta chain, non-erythrocytic 4", "gene_name": "SPTBN4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2V7-1", "protein_name": "Conserved oligomeric Golgi complex subunit 6", "gene_name": "COG6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6NUQ1-1", "protein_name": "RAD50-interacting protein 1", "gene_name": "RINT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P47756-2", "protein_name": "F-actin-capping protein subunit beta", "gene_name": "CAPZB", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NYM9-1", "protein_name": "BET1-like protein", "gene_name": "BET1L", "tax_name": "Human" }, { "uniprot_canonical_ac": "P47755-1", "protein_name": "F-actin-capping protein subunit alpha-2", "gene_name": "CAPZA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P52907-1", "protein_name": "F-actin-capping protein subunit alpha-1", "gene_name": "CAPZA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13409-1", "protein_name": "Cytoplasmic dynein 1 intermediate chain 2", "gene_name": "DYNC1I2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14576-1", "protein_name": "Cytoplasmic dynein 1 intermediate chain 1", "gene_name": "DYNC1I1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08174-1", "protein_name": "Complement decay-accelerating factor", "gene_name": "CD55", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y6G9-1", "protein_name": "Cytoplasmic dynein 1 light intermediate chain 1", "gene_name": "DYNC1LI1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15260-1", "protein_name": "Surfeit locus protein 4", "gene_name": "SURF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75037-1", "protein_name": "Kinesin-like protein KIF21B", "gene_name": "KIF21B", "tax_name": "Human" }, { "uniprot_canonical_ac": "B7ZC32-1", "protein_name": "Kinesin-like protein KIF28P", "gene_name": "KIF28P", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14782-1", "protein_name": "Kinesin-like protein KIF3C", "gene_name": "KIF3C", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95239-1", "protein_name": "Chromosome-associated kinesin KIF4A", "gene_name": "KIF4A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12756-1", "protein_name": "Kinesin-like protein KIF1A", "gene_name": "KIF1A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96FN5-1", "protein_name": "Kinesin-like protein KIF12", "gene_name": "KIF12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2TAC6-1", "protein_name": "Kinesin-like protein KIF19", "gene_name": "KIF19", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2VIQ3-1", "protein_name": "Chromosome-associated kinesin KIF4B", "gene_name": "KIF4B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86VH2-1", "protein_name": "Kinesin-like protein KIF27", "gene_name": "KIF27", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N4N8-1", "protein_name": "Kinesin-like protein KIF2B", "gene_name": "KIF2B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92845-1", "protein_name": "Kinesin-associated protein 3", "gene_name": "KIFAP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96L93-1", "protein_name": "Kinesin-like protein KIF16B", "gene_name": "KIF16B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96Q89-1", "protein_name": "Kinesin-like protein KIF20B", "gene_name": "KIF20B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BW19-1", "protein_name": "Kinesin-like protein KIFC1", "gene_name": "KIFC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9ULI4-1", "protein_name": "Kinesin-like protein KIF26A", "gene_name": "KIF26A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P49755-1", "protein_name": "Transmembrane emp24 domain-containing protein 10", "gene_name": "TMED10", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86Y91-5", "protein_name": "Kinesin-like protein KIF18B", "gene_name": "KIF18B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11277-1", "protein_name": "Spectrin beta chain, erythrocytic", "gene_name": "SPTB", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRC6-1", "protein_name": "Spectrin beta chain, non-erythrocytic 5", "gene_name": "SPTBN5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BUF5-1", "protein_name": "Tubulin beta-6 chain", "gene_name": "TUBB6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99747-1", "protein_name": "Gamma-soluble NSF attachment protein", "gene_name": "NAPG", "tax_name": "Human" }, { "uniprot_canonical_ac": "A6NNZ2-1", "protein_name": "Tubulin beta 8B", "gene_name": "TUBB8B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q3ZCM7-1", "protein_name": "Tubulin beta-8 chain", "gene_name": "TUBB8", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14653-1", "protein_name": "Golgi SNAP receptor complex member 2", "gene_name": "GOSR2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P46459-1", "protein_name": "Vesicle-fusing ATPase", "gene_name": "NSF", "tax_name": "Human" }, { "uniprot_canonical_ac": "P04350-1", "protein_name": "Tubulin beta-4A chain", "gene_name": "TUBB4A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H0U4-1", "protein_name": "Ras-related protein Rab-1B", "gene_name": "RAB1B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13885-1", "protein_name": "Tubulin beta-2A chain", "gene_name": "TUBB2A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H0H5-1", "protein_name": "Rac GTPase-activating protein 1", "gene_name": "RACGAP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02549-1", "protein_name": "Spectrin alpha chain, erythrocytic 1", "gene_name": "SPTA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q02241-1", "protein_name": "Kinesin-like protein KIF23", "gene_name": "KIF23", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NSK0-1", "protein_name": "Kinesin light chain 4", "gene_name": "KLC4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6P597-1", "protein_name": "Kinesin light chain 3", "gene_name": "KLC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61163-1", "protein_name": "Alpha-centractin", "gene_name": "ACTR1A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P63167-1", "protein_name": "Dynein light chain 1, cytoplasmic", "gene_name": "DYNLL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60763-1", "protein_name": "General vesicular transport factor p115", "gene_name": "USO1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P18085-1", "protein_name": "ADP-ribosylation factor 4", "gene_name": "ARF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61204-1", "protein_name": "ADP-ribosylation factor 3", "gene_name": "ARF3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP61-1", "protein_name": "ADP-ribosylation factor GTPase-activating protein 3", "gene_name": "ARFGAP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12840-1", "protein_name": "Kinesin heavy chain isoform 5A", "gene_name": "KIF5A", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14579-1", "protein_name": "Coatomer subunit epsilon", "gene_name": "COPE", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WTW3-1", "protein_name": "Conserved oligomeric Golgi complex subunit 1", "gene_name": "COG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13190-1", "protein_name": "Syntaxin-5", "gene_name": "STX5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92538-4", "protein_name": "Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1", "gene_name": "GBF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96JB2-1", "protein_name": "Conserved oligomeric Golgi complex subunit 3", "gene_name": "COG3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H9E3-1", "protein_name": "Conserved oligomeric Golgi complex subunit 4", "gene_name": "COG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P83436-1", "protein_name": "Conserved oligomeric Golgi complex subunit 7", "gene_name": "COG7", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14746-1", "protein_name": "Conserved oligomeric Golgi complex subunit 2", "gene_name": "COG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UBF2-1", "protein_name": "Coatomer subunit gamma-2", "gene_name": "COPG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UP83-2", "protein_name": "Conserved oligomeric Golgi complex subunit 5", "gene_name": "COG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y678-1", "protein_name": "Coatomer subunit gamma-1", "gene_name": "COPG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P299-1", "protein_name": "Coatomer subunit zeta-2", "gene_name": "COPZ2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43731-1", "protein_name": "ER lumen protein-retaining receptor 3", "gene_name": "KDELR3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P24390-1", "protein_name": "ER lumen protein-retaining receptor 1", "gene_name": "KDELR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H0B6-1", "protein_name": "Kinesin light chain 2", "gene_name": "KLC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P33176-1", "protein_name": "Kinesin-1 heavy chain", "gene_name": "KIF5B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15328-1", "protein_name": "Folate receptor alpha", "gene_name": "FOLR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P62820-1", "protein_name": "Ras-related protein Rab-1A", "gene_name": "RAB1A", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95249-1", "protein_name": "Golgi SNAP receptor complex member 1", "gene_name": "GOSR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P0DPH8-1", "protein_name": "Tubulin alpha-3D chain", "gene_name": "TUBA3D", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7Z4S6-1", "protein_name": "Kinesin-like protein KIF21A", "gene_name": "KIF21A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q07866-1", "protein_name": "Kinesin light chain 1", "gene_name": "KLC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13561-1", "protein_name": "Dynactin subunit 2", "gene_name": "DCTN2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UJW0-1", "protein_name": "Dynactin subunit 4", "gene_name": "DCTN4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96FJ2-1", "protein_name": "Dynein light chain 2, cytoplasmic", "gene_name": "DYNLL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BTE1-1", "protein_name": "Dynactin subunit 5", "gene_name": "DCTN5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NS87-1", "protein_name": "Kinesin-like protein KIF15", "gene_name": "KIF15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2KJY2-1", "protein_name": "Kinesin-like protein KIF26B", "gene_name": "KIF26B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P52732-1", "protein_name": "Kinesin-like protein KIF11", "gene_name": "KIF11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96AC6-1", "protein_name": "Kinesin-like protein KIFC2", "gene_name": "KIFC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UIL4-1", "protein_name": "Kinesin-like protein KIF25", "gene_name": "KIF25", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BVK6-1", "protein_name": "Transmembrane emp24 domain-containing protein 9", "gene_name": "TMED9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13509-1", "protein_name": "Tubulin beta-3 chain", "gene_name": "TUBB3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BQE3-1", "protein_name": "Tubulin alpha-1C chain", "gene_name": "TUBA1C", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15020-1", "protein_name": "Spectrin beta chain, non-erythrocytic 2", "gene_name": "SPTBN2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P68371-1", "protein_name": "Tubulin beta-4B chain", "gene_name": "TUBB4B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H4B7-1", "protein_name": "Tubulin beta-1 chain", "gene_name": "TUBB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H853-1", "protein_name": "Tubulin-like protein alpha-4B", "gene_name": "TUBA4B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y3Q3-1", "protein_name": "Transmembrane emp24 domain-containing protein 3", "gene_name": "TMED3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y3B3-1", "protein_name": "Transmembrane emp24 domain-containing protein 7", "gene_name": "TMED7", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q02224-1", "protein_name": "Centromere-associated protein E", "gene_name": "CENPE", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15155-1", "protein_name": "BET1 homolog", "gene_name": "BET1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13987-1", "protein_name": "CD59 glycoprotein", "gene_name": "CD59", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q15363-1", "protein_name": "Transmembrane emp24 domain-containing protein 2", "gene_name": "TMED2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96KX2-1", "protein_name": "F-actin-capping protein subunit alpha-3", "gene_name": "CAPZA3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60333-1", "protein_name": "Kinesin-like protein KIF1B", "gene_name": "KIF1B", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75935-1", "protein_name": "Dynactin subunit 3", "gene_name": "DCTN3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43237-1", "protein_name": "Cytoplasmic dynein 1 light intermediate chain 2", "gene_name": "DYNC1LI2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14204-1", "protein_name": "Cytoplasmic dynein 1 heavy chain 1", "gene_name": "DYNC1H1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O00139-3", "protein_name": "Kinesin-like protein KIF2A", "gene_name": "KIF2A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13813-1", "protein_name": "Spectrin alpha chain, non-erythrocytic 1", "gene_name": "SPTAN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P01308-1", "protein_name": "Insulin", "gene_name": "INS", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43896-1", "protein_name": "Kinesin-like protein KIF1C", "gene_name": "KIF1C", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14807-1", "protein_name": "Kinesin-like protein KIF22", "gene_name": "KIF22", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99661-1", "protein_name": "Kinesin-like protein KIF2C", "gene_name": "KIF2C", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NZ43-1", "protein_name": "Vesicle transport protein USE1", "gene_name": "USE1", "tax_name": "Human" }, { "uniprot_canonical_ac": "A6NHL2-1", "protein_name": "Tubulin alpha chain-like 3", "gene_name": "TUBAL3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NY65-1", "protein_name": "Tubulin alpha-8 chain", "gene_name": "TUBA8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P0DPH7-1", "protein_name": "Tubulin alpha-3C chain", "gene_name": "TUBA3C", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q08379-1", "protein_name": "Golgin subfamily A member 2", "gene_name": "GOLGA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BQQ3-1", "protein_name": "Golgi reassembly-stacking protein 1", "gene_name": "GORASP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NQT8-1", "protein_name": "Kinesin-like protein KIF13B", "gene_name": "KIF13B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q12981", "url": "https://www.uniprot.org/uniprotkb/Q12981" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 211, "end_pos": 212, "sequence_org": "FF", "sequence_mut": "AA", "comment": "No decrease in binding to COPG1. Disrupts interaction with SEC23A. Disrupts interaction with COPG1 and association with coatomer; when associated with 215-A-A-216.", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprotkb/P49755" }, { "database": "PubMed", "id": "9472029", "url": "https://pubmed.ncbi.nlm.nih.gov/9472029" }, { "database": "PubMed", "id": "11056392", "url": "https://pubmed.ncbi.nlm.nih.gov/11056392" }, { "database": "PubMed", "id": "10761932", "url": "https://pubmed.ncbi.nlm.nih.gov/10761932" } ], "uniprot_canonical_ac": "P49755-1" }, { "start_pos": 215, "end_pos": 216, "sequence_org": "KK", "sequence_mut": "AA", "comment": "Significant reduction in binding to COPG1. Disrupts interaction with COPG1 and association with coatomer; when associated with 211-A-A-212.", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprotkb/P49755" }, { "database": "PubMed", "id": "9472029", "url": "https://pubmed.ncbi.nlm.nih.gov/9472029" }, { "database": "PubMed", "id": "11056392", "url": "https://pubmed.ncbi.nlm.nih.gov/11056392" }, { "database": "PubMed", "id": "10761932", "url": "https://pubmed.ncbi.nlm.nih.gov/10761932" } ], "uniprot_canonical_ac": "P49755-1" }, { "start_pos": 194, "end_pos": 195, "sequence_org": "FF", "sequence_mut": "AA", "comment": "Disrupts association with coatomer; when associated with S-198-199-S.", "evidence": [ { "database": "UniProtKB", "id": "Q15363", "url": "https://www.uniprot.org/uniprotkb/Q15363" }, { "database": "PubMed", "id": "20361938", "url": "https://pubmed.ncbi.nlm.nih.gov/20361938" }, { "database": "PubMed", "id": "10761932", "url": "https://pubmed.ncbi.nlm.nih.gov/10761932" } ], "uniprot_canonical_ac": "Q15363-1" }, { "start_pos": 194, "end_pos": 195, "sequence_org": "FF", "sequence_mut": "AA", "comment": "Reduced surface and total expression of CASR.", "evidence": [ { "database": "UniProtKB", "id": "Q15363", "url": "https://www.uniprot.org/uniprotkb/Q15363" }, { "database": "PubMed", "id": "20361938", "url": "https://pubmed.ncbi.nlm.nih.gov/20361938" }, { "database": "PubMed", "id": "10761932", "url": "https://pubmed.ncbi.nlm.nih.gov/10761932" } ], "uniprot_canonical_ac": "Q15363-1" }, { "start_pos": 198, "end_pos": 199, "sequence_org": "RR", "sequence_mut": "SS", "comment": "Disrupts association with coatomer; when associated with A-194-195-A.", "evidence": [ { "database": "UniProtKB", "id": "Q15363", "url": "https://www.uniprot.org/uniprotkb/Q15363" }, { "database": "PubMed", "id": "10761932", "url": "https://pubmed.ncbi.nlm.nih.gov/10761932" } ], "uniprot_canonical_ac": "Q15363-1" }, { "start_pos": 198, "end_pos": 199, "sequence_org": "RR", "sequence_mut": "SS", "comment": "No inhibition of coatomer-dependent GTP hydrolysis.", "evidence": [ { "database": "UniProtKB", "id": "Q15363", "url": "https://www.uniprot.org/uniprotkb/Q15363" }, { "database": "PubMed", "id": "10761932", "url": "https://pubmed.ncbi.nlm.nih.gov/10761932" } ], "uniprot_canonical_ac": "Q15363-1" } ], "record_id": "pubmed.10761932", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 153 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 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"n_linked_glycan_sites", "count": 0 }, { "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": "COP I domains required for coatomer integrity, and novel interactions with ARF and ARF-GAP.", "journal": "The EMBO journal", "date": "2000", "authors": "Eugster A, Frigerio G, Dale M, Duden R", "reference": { "type": "PubMed", "id": "10921873", "url": "https://pubmed.ncbi.nlm.nih.gov/10921873" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q12981-4", "protein_name": "Vesicle transport protein SEC20", "gene_name": "BNIP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15498-1", "protein_name": "Synaptobrevin homolog YKT6", "gene_name": "YKT6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12893-1", "protein_name": "Transmembrane protein 115", "gene_name": "TMEM115", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6ZMV9-1", "protein_name": "Kinesin-like protein KIF6", "gene_name": "KIF6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NI77-1", "protein_name": "Kinesin-like protein KIF18A", "gene_name": "KIF18A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H115-1", "protein_name": "Beta-soluble NSF attachment protein", "gene_name": "NAPB", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14203-1", "protein_name": "Dynactin subunit 1", "gene_name": "DCTN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16157-1", "protein_name": "Ankyrin-1", "gene_name": "ANK1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HAQ2-1", "protein_name": "Kinesin-like protein KIF9", "gene_name": "KIF9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q01484-4", "protein_name": "Ankyrin-2", "gene_name": "ANK2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12955-3", "protein_name": "Ankyrin-3", "gene_name": "ANK3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N6H7-1", "protein_name": "ADP-ribosylation factor GTPase-activating protein 2", "gene_name": "ARFGAP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y496-1", "protein_name": "Kinesin-like protein KIF3A", "gene_name": "KIF3A", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15066-1", "protein_name": "Kinesin-like protein KIF3B", "gene_name": "KIF3B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P84085-1", "protein_name": "ADP-ribosylation factor 5", "gene_name": "ARF5", "tax_name": "Human" }, { "uniprot_canonical_ac": "P84077-1", "protein_name": "ADP-ribosylation factor 1", "gene_name": "ARF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N6T3-1", "protein_name": "ADP-ribosylation factor GTPase-activating protein 1", "gene_name": "ARFGAP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NZ32-1", "protein_name": "Actin-related protein 10", "gene_name": "ACTR10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P68363-1", "protein_name": "Tubulin alpha-1B chain", "gene_name": "TUBA1B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6PEY2-1", "protein_name": "Tubulin alpha-3E chain", "gene_name": "TUBA3E", "tax_name": "Human" }, { "uniprot_canonical_ac": "P53621-1", "protein_name": "Coatomer subunit alpha", "gene_name": "COPA", "tax_name": "Human" }, { "uniprot_canonical_ac": "P68366-1", "protein_name": "Tubulin alpha-4A chain", "gene_name": "TUBA4A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P35606-1", "protein_name": "Coatomer subunit beta'", "gene_name": "COPB2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q71U36-1", "protein_name": "Tubulin alpha-1A chain", "gene_name": "TUBA1A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61923-1", "protein_name": "Coatomer subunit zeta-1", "gene_name": "COPZ1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P48444-1", "protein_name": "Coatomer subunit delta", "gene_name": "ARCN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95235-1", "protein_name": "Kinesin-like protein KIF20A", "gene_name": "KIF20A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P33947-1", "protein_name": "ER lumen protein-retaining receptor 2", "gene_name": "KDELR2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O00399-1", "protein_name": "Dynactin subunit 6", "gene_name": "DCTN6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14789-1", "protein_name": "Golgin subfamily B member 1", "gene_name": "GOLGB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "A2RRP1-1", "protein_name": "NBAS subunit of NRZ tethering complex", "gene_name": "NBAS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BVA1-1", "protein_name": "Tubulin beta-2B chain", "gene_name": "TUBB2B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96MW5-1", "protein_name": "Conserved oligomeric Golgi complex subunit 8", "gene_name": "COG8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P54920-1", "protein_name": "Alpha-soluble NSF attachment protein", "gene_name": "NAPA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P2W9-1", "protein_name": "Syntaxin-18", "gene_name": "STX18", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75396-1", "protein_name": "Vesicle-trafficking protein SEC22b", "gene_name": "SEC22B", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43264-1", "protein_name": "Centromere/kinetochore protein zw10 homolog", "gene_name": "ZW10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P53618-1", "protein_name": "Coatomer subunit beta", "gene_name": "COPB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q01082-1", "protein_name": "Spectrin beta chain, non-erythrocytic 1", "gene_name": "SPTBN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H254-1", "protein_name": "Spectrin beta chain, non-erythrocytic 4", "gene_name": "SPTBN4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2V7-1", "protein_name": "Conserved oligomeric Golgi complex subunit 6", "gene_name": "COG6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6NUQ1-1", "protein_name": "RAD50-interacting protein 1", "gene_name": "RINT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P47756-2", "protein_name": "F-actin-capping protein subunit beta", "gene_name": "CAPZB", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NYM9-1", "protein_name": "BET1-like protein", "gene_name": "BET1L", "tax_name": "Human" }, { "uniprot_canonical_ac": "P47755-1", "protein_name": "F-actin-capping protein subunit alpha-2", "gene_name": "CAPZA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P52907-1", "protein_name": "F-actin-capping protein subunit alpha-1", "gene_name": "CAPZA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13409-1", "protein_name": "Cytoplasmic dynein 1 intermediate chain 2", "gene_name": "DYNC1I2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14576-1", "protein_name": "Cytoplasmic dynein 1 intermediate chain 1", "gene_name": "DYNC1I1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08174-1", "protein_name": "Complement decay-accelerating factor", "gene_name": "CD55", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y6G9-1", "protein_name": "Cytoplasmic dynein 1 light intermediate chain 1", "gene_name": "DYNC1LI1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15260-1", "protein_name": "Surfeit locus protein 4", "gene_name": "SURF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75037-1", "protein_name": "Kinesin-like protein KIF21B", "gene_name": "KIF21B", "tax_name": "Human" }, { "uniprot_canonical_ac": "B7ZC32-1", "protein_name": "Kinesin-like protein KIF28P", "gene_name": "KIF28P", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14782-1", "protein_name": "Kinesin-like protein KIF3C", "gene_name": "KIF3C", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95239-1", "protein_name": "Chromosome-associated kinesin KIF4A", "gene_name": "KIF4A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12756-1", "protein_name": "Kinesin-like protein KIF1A", "gene_name": "KIF1A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96FN5-1", "protein_name": "Kinesin-like protein KIF12", "gene_name": "KIF12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2TAC6-1", "protein_name": "Kinesin-like protein KIF19", "gene_name": "KIF19", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2VIQ3-1", "protein_name": "Chromosome-associated kinesin KIF4B", "gene_name": "KIF4B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86VH2-1", "protein_name": "Kinesin-like protein KIF27", "gene_name": "KIF27", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N4N8-1", "protein_name": "Kinesin-like protein KIF2B", "gene_name": "KIF2B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92845-1", "protein_name": "Kinesin-associated protein 3", "gene_name": "KIFAP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96L93-1", "protein_name": "Kinesin-like protein KIF16B", "gene_name": "KIF16B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96Q89-1", "protein_name": "Kinesin-like protein KIF20B", "gene_name": "KIF20B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BW19-1", "protein_name": "Kinesin-like protein KIFC1", "gene_name": "KIFC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9ULI4-1", "protein_name": "Kinesin-like protein KIF26A", "gene_name": "KIF26A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P49755-1", "protein_name": "Transmembrane emp24 domain-containing protein 10", "gene_name": "TMED10", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86Y91-5", "protein_name": "Kinesin-like protein KIF18B", "gene_name": "KIF18B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11277-1", "protein_name": "Spectrin beta chain, erythrocytic", "gene_name": "SPTB", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRC6-1", "protein_name": "Spectrin beta chain, non-erythrocytic 5", "gene_name": "SPTBN5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BUF5-1", "protein_name": "Tubulin beta-6 chain", "gene_name": "TUBB6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99747-1", "protein_name": "Gamma-soluble NSF attachment protein", "gene_name": "NAPG", "tax_name": "Human" }, { "uniprot_canonical_ac": "A6NNZ2-1", "protein_name": "Tubulin beta 8B", "gene_name": "TUBB8B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q3ZCM7-1", "protein_name": "Tubulin beta-8 chain", "gene_name": "TUBB8", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14653-1", "protein_name": "Golgi SNAP receptor complex member 2", "gene_name": "GOSR2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P46459-1", "protein_name": "Vesicle-fusing ATPase", "gene_name": "NSF", "tax_name": "Human" }, { "uniprot_canonical_ac": "P04350-1", "protein_name": "Tubulin beta-4A chain", "gene_name": "TUBB4A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H0U4-1", "protein_name": "Ras-related protein Rab-1B", "gene_name": "RAB1B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13885-1", "protein_name": "Tubulin beta-2A chain", "gene_name": "TUBB2A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H0H5-1", "protein_name": "Rac GTPase-activating protein 1", "gene_name": "RACGAP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02549-1", "protein_name": "Spectrin alpha chain, erythrocytic 1", "gene_name": "SPTA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q02241-1", "protein_name": "Kinesin-like protein KIF23", "gene_name": "KIF23", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NSK0-1", "protein_name": "Kinesin light chain 4", "gene_name": "KLC4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6P597-1", "protein_name": "Kinesin light chain 3", "gene_name": "KLC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61163-1", "protein_name": "Alpha-centractin", "gene_name": "ACTR1A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P63167-1", "protein_name": "Dynein light chain 1, cytoplasmic", "gene_name": "DYNLL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60763-1", "protein_name": "General vesicular transport factor p115", "gene_name": "USO1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P18085-1", "protein_name": "ADP-ribosylation factor 4", "gene_name": "ARF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61204-1", "protein_name": "ADP-ribosylation factor 3", "gene_name": "ARF3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP61-1", "protein_name": "ADP-ribosylation factor GTPase-activating protein 3", "gene_name": "ARFGAP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12840-1", "protein_name": "Kinesin heavy chain isoform 5A", "gene_name": "KIF5A", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14579-1", "protein_name": "Coatomer subunit epsilon", "gene_name": "COPE", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WTW3-1", "protein_name": "Conserved oligomeric Golgi complex subunit 1", "gene_name": "COG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13190-1", "protein_name": "Syntaxin-5", "gene_name": "STX5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92538-4", "protein_name": "Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1", "gene_name": "GBF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96JB2-1", "protein_name": "Conserved oligomeric Golgi complex subunit 3", "gene_name": "COG3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H9E3-1", "protein_name": "Conserved oligomeric Golgi complex subunit 4", "gene_name": "COG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P83436-1", "protein_name": "Conserved oligomeric Golgi complex subunit 7", "gene_name": "COG7", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14746-1", "protein_name": "Conserved oligomeric Golgi complex subunit 2", "gene_name": "COG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UBF2-1", "protein_name": "Coatomer subunit gamma-2", "gene_name": "COPG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UP83-2", "protein_name": "Conserved oligomeric Golgi complex subunit 5", "gene_name": "COG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y678-1", "protein_name": "Coatomer subunit gamma-1", "gene_name": "COPG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P299-1", "protein_name": "Coatomer subunit zeta-2", "gene_name": "COPZ2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43731-1", "protein_name": "ER lumen protein-retaining receptor 3", "gene_name": "KDELR3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P24390-1", "protein_name": "ER lumen protein-retaining receptor 1", "gene_name": "KDELR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H0B6-1", "protein_name": "Kinesin light chain 2", "gene_name": "KLC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P33176-1", "protein_name": "Kinesin-1 heavy chain", "gene_name": "KIF5B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15328-1", "protein_name": "Folate receptor alpha", "gene_name": "FOLR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P62820-1", "protein_name": "Ras-related protein Rab-1A", "gene_name": "RAB1A", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95249-1", "protein_name": "Golgi SNAP receptor complex member 1", "gene_name": "GOSR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P0DPH8-1", "protein_name": "Tubulin alpha-3D chain", "gene_name": "TUBA3D", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7Z4S6-1", "protein_name": "Kinesin-like protein KIF21A", "gene_name": "KIF21A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q07866-1", "protein_name": "Kinesin light chain 1", "gene_name": "KLC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13561-1", "protein_name": "Dynactin subunit 2", "gene_name": "DCTN2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UJW0-1", "protein_name": "Dynactin subunit 4", "gene_name": "DCTN4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96FJ2-1", "protein_name": "Dynein light chain 2, cytoplasmic", "gene_name": "DYNLL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BTE1-1", "protein_name": "Dynactin subunit 5", "gene_name": "DCTN5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NS87-1", "protein_name": "Kinesin-like protein KIF15", "gene_name": "KIF15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2KJY2-1", "protein_name": "Kinesin-like protein KIF26B", "gene_name": "KIF26B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P52732-1", "protein_name": "Kinesin-like protein KIF11", "gene_name": "KIF11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96AC6-1", "protein_name": "Kinesin-like protein KIFC2", "gene_name": "KIFC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UIL4-1", "protein_name": "Kinesin-like protein KIF25", "gene_name": "KIF25", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BVK6-1", "protein_name": "Transmembrane emp24 domain-containing protein 9", "gene_name": "TMED9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13509-1", "protein_name": "Tubulin beta-3 chain", "gene_name": "TUBB3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BQE3-1", "protein_name": "Tubulin alpha-1C chain", "gene_name": "TUBA1C", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15020-1", "protein_name": "Spectrin beta chain, non-erythrocytic 2", "gene_name": "SPTBN2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P68371-1", "protein_name": "Tubulin beta-4B chain", "gene_name": "TUBB4B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H4B7-1", "protein_name": "Tubulin beta-1 chain", "gene_name": "TUBB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H853-1", "protein_name": "Tubulin-like protein alpha-4B", "gene_name": "TUBA4B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y3Q3-1", "protein_name": "Transmembrane emp24 domain-containing protein 3", "gene_name": "TMED3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y3B3-1", "protein_name": "Transmembrane emp24 domain-containing protein 7", "gene_name": "TMED7", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q02224-1", "protein_name": "Centromere-associated protein E", "gene_name": "CENPE", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15155-1", "protein_name": "BET1 homolog", "gene_name": "BET1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13987-1", "protein_name": "CD59 glycoprotein", "gene_name": "CD59", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q15363-1", "protein_name": "Transmembrane emp24 domain-containing protein 2", "gene_name": "TMED2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96KX2-1", "protein_name": "F-actin-capping protein subunit alpha-3", "gene_name": "CAPZA3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60333-1", "protein_name": "Kinesin-like protein KIF1B", "gene_name": "KIF1B", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75935-1", "protein_name": "Dynactin subunit 3", "gene_name": "DCTN3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43237-1", "protein_name": "Cytoplasmic dynein 1 light intermediate chain 2", "gene_name": "DYNC1LI2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14204-1", "protein_name": "Cytoplasmic dynein 1 heavy chain 1", "gene_name": "DYNC1H1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O00139-3", "protein_name": "Kinesin-like protein KIF2A", "gene_name": "KIF2A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13813-1", "protein_name": "Spectrin alpha chain, non-erythrocytic 1", "gene_name": "SPTAN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P01308-1", "protein_name": "Insulin", "gene_name": "INS", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43896-1", "protein_name": "Kinesin-like protein KIF1C", "gene_name": "KIF1C", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14807-1", "protein_name": "Kinesin-like protein KIF22", "gene_name": "KIF22", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99661-1", "protein_name": "Kinesin-like protein KIF2C", "gene_name": "KIF2C", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NZ43-1", "protein_name": "Vesicle transport protein USE1", "gene_name": "USE1", "tax_name": "Human" }, { "uniprot_canonical_ac": "A6NHL2-1", "protein_name": "Tubulin alpha chain-like 3", "gene_name": "TUBAL3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NY65-1", "protein_name": "Tubulin alpha-8 chain", "gene_name": "TUBA8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P0DPH7-1", "protein_name": "Tubulin alpha-3C chain", "gene_name": "TUBA3C", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q08379-1", "protein_name": "Golgin subfamily A member 2", "gene_name": "GOLGA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BQQ3-1", "protein_name": "Golgi reassembly-stacking protein 1", "gene_name": "GORASP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NQT8-1", "protein_name": "Kinesin-like protein KIF13B", "gene_name": "KIF13B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q12981", "url": "https://www.uniprot.org/uniprotkb/Q12981" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10921873", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 153 } ], "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": [] } ] } ]