[ { "title": "Mutations in IMPG1 cause vitelliform macular dystrophies.", "journal": "American journal of human genetics", "date": "2013", "authors": "Manes G, Meunier I, Avila-Fernandez A, Banfi S, Le Meur G, Zanlonghi X, Corton M, Simonelli F, Brabet P, Labesse G, Audo I, Mohand-Said S, Zeitz C, Sahel JA, Weber M, Dollfus H, Dhaenens CM, Allorge D, De Baere E, Koenekoop RK, Kohl S, Cremers FP, Hollyfield JG, Senechal A, Hebrard M, Bocquet B, Ayuso Garcia C, Hamel CP", "reference": { "type": "PubMed", "id": "23993198", "url": "https://pubmed.ncbi.nlm.nih.gov/23993198" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q17R60-1", "protein_name": "Interphotoreceptor matrix proteoglycan 1", "gene_name": "IMPG1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q17R60", "url": "https://www.uniprot.org/uniprotkb/Q17R60" } ], "common_name": "Human", "glygen_name": "Human", 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"Ophthalmology", "date": "2014", "authors": "Meunier I, Manes G, Bocquet B, Marquette V, Baudoin C, Puech B, Defoort-Dhellemmes S, Audo I, Verdet R, Arndt C, Zanlonghi X, Le Meur G, Dhaenens CM, Hamel CP", "reference": { "type": "PubMed", "id": "25085631", "url": "https://pubmed.ncbi.nlm.nih.gov/25085631" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q17R60-1", "protein_name": "Interphotoreceptor matrix proteoglycan 1", "gene_name": "IMPG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BZV3-1", "protein_name": "Interphotoreceptor matrix proteoglycan 2", "gene_name": "IMPG2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q17R60", "url": "https://www.uniprot.org/uniprotkb/Q17R60" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.25085631", "abstract": "", "glycosylation": [], "mutagenesis": [], 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "SHQ1 is an ER stress response gene that facilitates chemotherapeutics-induced apoptosis via sensitizing ER-stress response.", "journal": "Cell death & disease", "date": "2020", "authors": "Liu H, Xie S, Fang F, Kalvakolanu DV, Xiao W", "reference": { "type": "PubMed", "id": "32522979", "url": "https://pubmed.ncbi.nlm.nih.gov/32522979" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6PI26-1", "protein_name": "Protein SHQ1 homolog", "gene_name": "SHQ1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PI26", "url": "https://www.uniprot.org/uniprotkb/Q6PI26" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.32522979", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { 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"CMSTA2", "description": "" }, { "id": "DOID:0110676", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110676", "name": "congenital myasthenic syndrome with tubular aggregates 2", "description": "" }, { "id": "DOID:0110676", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110676", "name": "congenital myasthenic syndrome 13 with tubular aggregates", "description": "" }, { "id": "MONDO:0013883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013883", "name": "congenital myasthenic syndrome 13", "description": "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene." }, { "id": "MONDO:0013883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013883", "name": "CMS13", "description": "" }, { "id": "MONDO:0013883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013883", "name": "CMSTA2", "description": "" }, { "id": "MONDO:0013883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013883", "name": "DPAGT1 congenital myasthenic syndromes with glycosylation defect", "description": "" }, { "id": "MONDO:0013883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013883", "name": "congenital myasthenic syndrome type 13", "description": "" }, { "id": "MONDO:0013883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013883", "name": "congenital myasthenic syndromes with glycosylation defect caused by mutation in DPAGT1", "description": "" }, { "id": "MONDO:0013883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013883", "name": "myasthenic syndrome, congenital, 13, with tubular aggregates", "description": "" }, { "id": "MONDO:0013883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013883", "name": "myasthenic syndrome, congenital, type 13", "description": "" }, { "id": "MONDO:0013883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013883", "name": "myasthenic syndrome, congenital, 13", "description": "" }, { "id": "MIM:614750", "resource": "MIM", "url": "https://www.omim.org/entry/614750", "name": "Myasthenic syndrome, congenital, 13", "description": "Myasthenic syndrome, congenital, 13" } ], "unlinked_id_list": [], "evidence": [ { "id": "614750", "database": "MIM", "url": "https://www.omim.org/entry/614750" }, { "id": "DPAGT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/DPAGT1/#!details" }, { "id": "0110676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110676" } ] }, { "disease_id": "DOID:0080562", "recommended_name": { "id": "DOID:0080562", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080562", "name": "congenital disorder of glycosylation Ij", "description": "A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23." }, "synonyms": [ { "id": "DOID:0080562", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080562", "name": "Congenital disorder of glycosylation 1j", "description": "" }, { "id": "MONDO:0011964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011964", "name": "DPAGT1-congenital disorder of glycosylation", "description": "DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3)." }, { "id": "MONDO:0011964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011964", "name": "CDG syndrome type Ij", "description": "" }, { "id": "MONDO:0011964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011964", "name": "CDG-Ij", "description": "" }, { "id": "MONDO:0011964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011964", "name": "CDG1J", "description": "" }, { "id": "MONDO:0011964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011964", "name": "CDGIj", "description": "" }, { "id": "MONDO:0011964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011964", "name": "DPAGT1-CDG", "description": "" }, { "id": "MONDO:0011964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011964", "name": "DPAGT1-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0011964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011964", "name": "carbohydrate deficient glycoprotein syndrome type Ij", "description": "" }, { "id": "MONDO:0011964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011964", "name": "congenital disorder of glycosylation type 1j", "description": "" }, { "id": "MONDO:0011964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011964", "name": "congenital disorder of glycosylation type Ij", "description": "" }, { "id": "MONDO:0011964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011964", "name": "dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency", "description": "" }, { "id": "MONDO:0011964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011964", "name": "CDG 1J", "description": "" }, { "id": "MONDO:0011964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011964", "name": "DPAGT1-CDG (CDG-Ij)", "description": "" }, { "id": "MONDO:0011964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011964", "name": "congenital disorder of glycosylation, type Ij", "description": "" }, { "id": "MIM:608093", "resource": "MIM", "url": "https://www.omim.org/entry/608093", "name": "Congenital disorder of glycosylation 1J", "description": "Congenital disorder of glycosylation 1J" } ], "unlinked_id_list": [], "evidence": [ { "id": "0011964", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011964" }, { "id": "608093", "database": "MIM", "url": "https://www.omim.org/entry/608093" }, { "id": "DPAGT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/DPAGT1/#!details" }, { "id": "1798", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1798#disease" }, { "id": "0080562", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080562" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000100000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q9H3H5-1" } ], "record_id": "pubmed.23249953", "abstract": "", "glycosylation": [], "mutagenesis": [], "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": "GlcNAc-1-P-transferase-tunicamycin complex structure reveals basis for inhibition of N-glycosylation.", "journal": "Nature structural & molecular biology", "date": "2018", "authors": "Yoo J, Mashalidis EH, Kuk ACY, Yamamoto K, Kaeser B, Ichikawa S, Lee SY", "reference": { "type": "PubMed", "id": "29459785", "url": "https://pubmed.ncbi.nlm.nih.gov/29459785" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H3H5-1", "protein_name": "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase", "gene_name": "DPAGT1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H3H5", "url": "https://www.uniprot.org/uniprotkb/Q9H3H5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 252, "end_pos": 252, "sequence_org": "D", "sequence_mut": "A", "comment": "Reduces 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Nearly abolishes UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9H3H5", "url": "https://www.uniprot.org/uniprotkb/Q9H3H5" }, { "database": "PubMed", "id": "30388443", "url": "https://pubmed.ncbi.nlm.nih.gov/30388443" }, { "database": "PubMed", "id": "29459785", "url": "https://pubmed.ncbi.nlm.nih.gov/29459785" } ], "uniprot_canonical_ac": "Q9H3H5-1" } ], "record_id": "pubmed.29459785", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { 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