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Biochem. Biophys.", "date": "1970", "authors": "Rowley B, Tucci A F", "reference": { "type": "PubMed", "id": "4395693", "url": "https://pubmed.ncbi.nlm.nih.gov/4395693" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40495-1", "protein_name": "Homoisocitrate dehydrogenase, mitochondrial", "gene_name": "LYS12", "tax_name": "Baker's yeast" } ], "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "evidence": [ { "database": "UniProtKB", "id": "P40495", "url": "https://www.uniprot.org/uniprotkb/P40495" } ], "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "record_id": "pubmed.4395693", "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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U.S.A.", "date": "1998", "authors": "Taura T, Krebber H, Silver P A", "reference": { "type": "PubMed", "id": "9636166", "url": "https://pubmed.ncbi.nlm.nih.gov/9636166" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40517-1", "protein_name": "Ran-specific GTPase-activating protein 2", "gene_name": "YRB2", "tax_name": "Baker's yeast" } ], "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "evidence": [ { "database": "UniProtKB", "id": "P40517", "url": "https://www.uniprot.org/uniprotkb/P40517" } ], "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "record_id": "pubmed.9636166", "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", 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disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene." }, { "id": "MONDO:0012991", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012991", "name": "Kahrizi syndrome", "description": "" }, { "id": "MONDO:0012991", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012991", "name": "KHRZ", "description": "" }, { "id": "MONDO:0012991", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012991", "name": "mental retardation, cataract, coloboma, and kyphosis, autosomal recessive", "description": "" }, { "id": "MIM:612713", "resource": "MIM", "url": "https://www.omim.org/entry/612713", "name": "Kahrizi syndrome", "description": "Kahrizi syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "612713", "database": "MIM", "url": "https://www.omim.org/entry/612713" }, { "id": "SRD5A3", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/SRD5A3/#!details" }, { "id": "0050807", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050807" } ] }, { "disease_id": "DOID:0080568", "recommended_name": { "id": "DOID:0080568", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080568", "name": "congenital disorder of glycosylation Iq", "description": "A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12." }, "synonyms": [ { "id": "DOID:0080568", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080568", "name": "congenital disorder of glycosylation 1q", "description": "" }, { "id": "MONDO:0012885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012885", "name": "SRD5A3-congenital disorder of glycosylation", "description": "A rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation." }, { "id": "MONDO:0012885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012885", "name": "CDG syndrome type Iq", "description": "" }, { "id": "MONDO:0012885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012885", "name": "CDG-Iq", "description": "" }, { "id": "MONDO:0012885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012885", "name": "CDG1Q", "description": "" }, { "id": "MONDO:0012885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012885", "name": "SRD5A3-CDG", "description": "" }, { "id": "MONDO:0012885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012885", "name": "SRD5A3-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0012885", "resource": "MONDO", "url": 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glycosylation, type Iq", "description": "" }, { "id": "MIM:612379", "resource": "MIM", "url": "https://www.omim.org/entry/612379", "name": "Congenital disorder of glycosylation 1Q", "description": "Congenital disorder of glycosylation 1Q" } ], "unlinked_id_list": [], "evidence": [ { "id": "0012885", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012885" }, { "id": "612379", "database": "MIM", "url": "https://www.omim.org/entry/612379" }, { "id": "SRD5A3", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/SRD5A3/#!details" }, { "id": "79644", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/79644#disease" }, { "id": "0080568", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080568" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "000000100000000000000.00000000000000.000000000001000000.00001.11.000.000", 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"total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.", "journal": "Cell", "date": "2024-07-11", "authors": "Wilson Matthew P, Kentache Takfarinas, Althoff Charlotte R, Schulz C\u00e9line, de Bettignies Geoffroy, Mateu Cabrera Gis\u00e8le, Cimbalistiene Loreta, Burnyte Birute, Yoon Grace, Costain Gregory, Vuillaumier-Barrot Sandrine, Cheillan David, Rymen Daisy, Rychtarova Lucie, Hansikova Hana, Bury Marina, Dewulf Joseph P, Caligiore Francesco, Jaeken Jaak, Cantagrel Vincent, Van Schaftingen Emile, Matthijs Gert, Foulquier Fran\u00e7ois, Bommer Guido T", "reference": { "type": "PubMed", "id": "38821050", "url": "https://pubmed.ncbi.nlm.nih.gov/38821050" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40526-1", "protein_name": "Polyprenal reductase", "gene_name": "DFG10", "tax_name": "Baker's yeast" }, { "uniprot_canonical_ac": "Q9UPQ8-1", "protein_name": "Dolichol kinase", "gene_name": "DOLK", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86YN1-1", "protein_name": "Dolichyldiphosphatase 1", "gene_name": "DOLPP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86SQ9-1", "protein_name": "Dehydrodolichyl 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"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": "Requirement for neo1p in retrograde transport from the Golgi complex to the endoplasmic reticulum.", "journal": "Molecular biology of the cell", "date": "2003-12", "authors": "Hua Zhaolin, Graham Todd R", "reference": { "type": "PubMed", "id": "12960419", "url": "https://pubmed.ncbi.nlm.nih.gov/12960419" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40527-1", "protein_name": "Phospholipid-transporting ATPase NEO1", "gene_name": "NEO1", "tax_name": "Baker's yeast" } ], "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "evidence": [ { "database": "UniProtKB", "id": "P40527", "url": "https://www.uniprot.org/uniprotkb/P40527" } ], "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "record_id": "pubmed.12960419", "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 } ], 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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": "Structural basis of the P4B ATPase lipid flippase activity.", "journal": "Nature communications", "date": "2021", "authors": "Bai L, Jain BK, You Q, Duan HD, Takar M, Graham TR, Li H", "reference": { "type": "PubMed", "id": "34645814", "url": "https://pubmed.ncbi.nlm.nih.gov/34645814" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40527-1", "protein_name": "Phospholipid-transporting ATPase NEO1", "gene_name": "NEO1", "tax_name": "Baker's yeast" } ], "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "evidence": [ { "database": "UniProtKB", "id": "P40527", "url": 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Cell. Proteomics", "date": "2002", "authors": "Wilson Wayne A, Wang Zhong, Roach Peter J", "reference": { "type": "PubMed", "id": "12096123", "url": "https://pubmed.ncbi.nlm.nih.gov/12096123" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40547-1", "protein_name": "GID complex subunit 5", "gene_name": "VID28", "tax_name": "Baker's yeast" }, { "uniprot_canonical_ac": "P53246-1", "protein_name": "Late endosome and vacuole interface protein 11", "gene_name": "ENV11", "tax_name": "Baker's yeast" } ], "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "evidence": [ { "database": "UniProtKB", "id": "P40547", "url": "https://www.uniprot.org/uniprotkb/P40547" } ], "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "record_id": "pubmed.12096123", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { 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F", "date": "2005", "authors": "Choi Jongkeun, Choi Soonwoong, Choi Jungwon, Cha Mee-Kyung, Kim Il-Han, Shin Whanchul", "reference": { "type": "PubMed", "id": "16511121", "url": "https://pubmed.ncbi.nlm.nih.gov/16511121" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40553-1", "protein_name": "Peroxiredoxin DOT5", "gene_name": "DOT5", "tax_name": "Baker's yeast" } ], "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "evidence": [ { "database": "UniProtKB", "id": "P40553", "url": "https://www.uniprot.org/uniprotkb/P40553" } ], "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "record_id": "pubmed.16511121", "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": "Solution structure of Urm1 and its implications for the origin of protein modifiers.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2006", "authors": "Xu J, Zhang J, Wang L, Zhou J, Huang H, Wu J, Zhong Y, Shi Y", "reference": { "type": "PubMed", "id": "16864801", "url": "https://pubmed.ncbi.nlm.nih.gov/16864801" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40554-1", "protein_name": "Ubiquitin-related modifier 1", "gene_name": "URM1", "tax_name": "Baker's yeast" } ], "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "evidence": [ { "database": "UniProtKB", "id": "P40554", "url": "https://www.uniprot.org/uniprotkb/P40554" } ], "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "record_id": "pubmed.16864801", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", 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J.", "date": "2003", "authors": "Hildyard John C W, Halestrap Andrew P", "reference": { "type": "PubMed", "id": "12887330", "url": "https://pubmed.ncbi.nlm.nih.gov/12887330" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40556-1", "protein_name": "Mitochondrial nicotinamide adenine dinucleotide transporter 1", "gene_name": "YIA6", "tax_name": "Baker's yeast" } ], "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "evidence": [ { "database": "UniProtKB", "id": "P40556", "url": "https://www.uniprot.org/uniprotkb/P40556" } ], "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "record_id": "pubmed.12887330", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", 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"common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "record_id": "pubmed.10545109", "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": [] }, { 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"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": "Substrate recognition in ER-associated degradation mediated by Eps1, a member of the protein disulfide isomerase family.", "journal": "The EMBO journal", "date": "2003-08-01", "authors": "Wang Qiongqing, Chang Amy", "reference": { "type": "PubMed", "id": "12881414", "url": "https://pubmed.ncbi.nlm.nih.gov/12881414" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40557-1", "protein_name": "ER-retained PMA1-suppressing protein 1", "gene_name": "EPS1", "tax_name": "Baker's yeast" } ], "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "evidence": [ { "database": "UniProtKB", "id": "P40557", "url": "https://www.uniprot.org/uniprotkb/P40557" } ], "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "record_id": "pubmed.12881414", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], 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"count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "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": 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"Genetics", "date": "2000-07", "authors": "Scheller J, Sch\u00fcrer A, Rudolph C, Hettwer S, Kramer W", "reference": { "type": "PubMed", "id": "10880470", "url": "https://pubmed.ncbi.nlm.nih.gov/10880470" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40562-1", "protein_name": "ATP-dependent DNA helicase MPH1", "gene_name": "MPH1", "tax_name": "Baker's yeast" } ], "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "evidence": [ { "database": "UniProtKB", "id": "P40562", "url": "https://www.uniprot.org/uniprotkb/P40562" } ], "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "record_id": "pubmed.10880470", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", 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control in mitotic recombination.", "journal": "Genes & development", "date": "2009-01-01", "authors": "Prakash Rohit, Satory Dominik, Dray Elo\u00efse, Papusha Almas, Scheller J\u00fcrgen, Kramer Wilfried, Krejci Lumir, Klein Hannah, Haber James E, Sung Patrick, Ira Grzegorz", "reference": { "type": "PubMed", "id": "19136626", "url": "https://pubmed.ncbi.nlm.nih.gov/19136626" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40562-1", "protein_name": "ATP-dependent DNA helicase MPH1", "gene_name": "MPH1", "tax_name": "Baker's yeast" } ], "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "evidence": [ { "database": "UniProtKB", "id": "P40562", "url": "https://www.uniprot.org/uniprotkb/P40562" } ], "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "record_id": "pubmed.19136626", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], 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protein, Snu17p, is required for the first catalytic step of splicing and for progression of spliceosome assembly.", "journal": "Molecular and cellular biology", "date": "2001-05", "authors": "Gottschalk A, Bartels C, Neubauer G, L\u00fchrmann R, Fabrizio P", "reference": { "type": "PubMed", "id": "11287609", "url": "https://pubmed.ncbi.nlm.nih.gov/11287609" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40565-1", "protein_name": "U2 snRNP component IST3", "gene_name": "IST3", "tax_name": "Baker's yeast" } ], "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "evidence": [ { "database": "UniProtKB", "id": "P40565", "url": "https://www.uniprot.org/uniprotkb/P40565" } ], "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "record_id": "pubmed.11287609", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], 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Natl. Acad. Sci. 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"field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).", "journal": "Human molecular genetics", "date": "1994", "authors": "Huie ML, Chen AS, Brooks SS, Grix A, Hirschhorn R", "reference": { "type": "PubMed", "id": "7981676", "url": "https://pubmed.ncbi.nlm.nih.gov/7981676" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P10253-1", "protein_name": "Lysosomal alpha-glucosidase", "gene_name": "GAA", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7981676", "abstract": "", 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"authors": "Hermans MM, de Graaff E, Kroos MA, Wisselaar HA, Willemsen R, Oostra BA, Reuser AJ", "reference": { "type": "PubMed", "id": "8094613", "url": "https://pubmed.ncbi.nlm.nih.gov/8094613" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P10253-1", "protein_name": "Lysosomal alpha-glucosidase", "gene_name": "GAA", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8094613", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": 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"", "url": "" } ], "mining_tool": "GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "GlycoSiteMiner_1.0" } ], "uniprot_canonical_ac": "P10253-1" }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true, "automatic_literature_mining": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 925, "start_aa": "Asn", "end_pos": 925, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn925", "evidence": [ { "id": "17293352", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17293352" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" }, { "id": "P10253", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10253#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19159218" }, { "id": "8435067", "database": "PubMed", "url": 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0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 7 }, { "field": "exact_n_linked_sites", "count": 7 }, { "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", "mining_tool", "icn3d_view.label", "icn3d_view.url" ] }, { "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": 14 }, { "field": "total_sites", "count": 7 }, { "field": "n_linked_sites", "count": 7 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_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": 7 }, { "field": "exact_n_linked_sites", "count": 7 }, { "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", "mining_tool", "icn3d_view.label", "icn3d_view.url" ] }, { "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": 8 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_sites", "count": 4 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_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": 4 }, { "field": "exact_n_linked_sites", "count": 4 }, { "field": "fuzzy_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", 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sapiens [9606]" } ], "record_id": "pubmed.8486380", "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": "Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype.", "journal": "Human genetics", "date": "1996", "authors": "Tsunoda H, Ohshima T, Tohyama J, Sasaki M, Sakuragawa N, Martiniuk F", "reference": { "type": "PubMed", "id": "8834250", "url": "https://pubmed.ncbi.nlm.nih.gov/8834250" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P10253-1", "protein_name": "Lysosomal alpha-glucosidase", "gene_name": "GAA", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121907941", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121907941" }, { "id": "rs121907941", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121907941" }, { "id": "8834250", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8834250" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 529, "end_pos": 529, "sequence_org": "S", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "80110974_80110975delin", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S529", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:2752", "recommended_name": { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features." }, "synonyms": [ { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Generalized glycogenosis", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease, 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"description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Pompe disease", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogen storage disease due to acid maltase deficiency, infantile onset", "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. 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