[ { "title": "SorLA signaling by regulated intramembrane proteolysis.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Bohm C, Seibel NM, Henkel B, Steiner H, Haass C, Hampe W", "reference": { "type": "PubMed", "id": "16531402", "url": "https://pubmed.ncbi.nlm.nih.gov/16531402" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q92673-1", "protein_name": "Sortilin-related receptor", "gene_name": "SORL1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92673", "url": "https://www.uniprot.org/uniprotkb/Q92673" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 2163, "end_pos": 2164, "sequence_org": "RR", "sequence_mut": "AA", "comment": "Affects the nuclear location of the C-terminal fragment generated by PSEN1.", "evidence": [ { "database": "UniProtKB", "id": 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Mutat.", "date": "2008", "authors": "Bettens Karolien, Brouwers Nathalie, Engelborghs Sebastiaan, De Deyn Peter P, Van Broeckhoven Christine, Sleegers Kristel", "reference": { "type": "PubMed", "id": "18407551", "url": "https://pubmed.ncbi.nlm.nih.gov/18407551" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q92673-1", "protein_name": "Sortilin-related receptor", "gene_name": "SORL1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92673", "url": "https://www.uniprot.org/uniprotkb/Q92673" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.18407551", "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": "No association of SORL1 SNPs with Alzheimer's disease.", "journal": "Neurosci. Lett.", "date": "2008", "authors": "Minster Ryan L, DeKosky Steven T, Kamboh M Ilyas", "reference": { "type": "PubMed", "id": "18562096", "url": "https://pubmed.ncbi.nlm.nih.gov/18562096" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q92673-1", "protein_name": "Sortilin-related receptor", "gene_name": "SORL1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92673", "url": "https://www.uniprot.org/uniprotkb/Q92673" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.18562096", "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": "Endocytosis of apolipoprotein A-V by members of the low density lipoprotein receptor and the VPS10p domain receptor families.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Nilsson SK, Christensen S, Raarup MK, Ryan RO, Nielsen MS, Olivecrona G", "reference": { "type": "PubMed", "id": "18603531", "url": "https://pubmed.ncbi.nlm.nih.gov/18603531" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q92673-1", "protein_name": "Sortilin-related receptor", "gene_name": "SORL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6Q788-1", "protein_name": "Apolipoprotein A-V", "gene_name": "APOA5", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92673", "url": "https://www.uniprot.org/uniprotkb/Q92673" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 2190, "end_pos": 2198, "sequence_org": "DDLGEDDED", "sequence_mut": "AALGAAAAA", "comment": "Loss of interaction with GGA1 and PACS1. No effect on interaction with APP. Affects subcellular location, increasing localization at the cell surface, possibly due to drastically decreased endocytosis. Impaired Golgi apparatus - endosome sorting. Increased amyloidogenic APP processing by beta-secretase, resulting in increased levels of soluble APP-beta and amyloid-beta protein 40 and 42. 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Neurol.", "date": "2011", "authors": "Reitz Christiane, Cheng Rong, Rogaeva Ekaterina, Lee Joseph H, Tokuhiro Shinya, Zou Fanggeng, Bettens Karolien, Sleegers Kristel, Tan Eng King, Kimura Ryo, Shibata Nobuto, Arai Heii, Kamboh M Ilyas, Prince Jonathan A, Maier Wolfgang, Riemenschneider Matthias, Owen Michael, Harold Denise, Hollingworth Paul, Cellini Elena, Sorbi Sandro, Nacmias Benedetta, Takeda Masatoshi, Pericak-Vance Margaret A, Haines Jonathan L, Younkin Steven, Williams Julie, van Broeckhoven Christine, Farrer Lindsay A, St George-Hyslop Peter H, Mayeux Richard,", "reference": { "type": "PubMed", "id": "21220680", "url": "https://pubmed.ncbi.nlm.nih.gov/21220680" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q92673-1", "protein_name": "Sortilin-related receptor", "gene_name": "SORL1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92673", "url": 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neurodevelopmental disorder.", "journal": "Journal of medical genetics", "date": "2021", "authors": "Roston A, Evans D, Gill H, McKinnon M, Isidor B, Cogne B, Mwenifumbo J, van Karnebeek C, An J, Jones SJM, Farrer M, Demos M, Connolly M, Gibson WT", "reference": { "type": "PubMed", "id": "32546566", "url": "https://pubmed.ncbi.nlm.nih.gov/32546566" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UPS6-1", "protein_name": "Histone-lysine N-methyltransferase SETD1B", "gene_name": "SETD1B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UPS6", "url": "https://www.uniprot.org/uniprotkb/Q9UPS6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.32546566", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": 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Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Jarvela I, Lauronen L, Maatta T, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya SM, Harrison V, Sun A, Thies J, Pedroza LA, Lara-Taranchenko Y, Chinn IK, Lupski JR, Garza-Flores A, McGlothlin J, Yang L, Huang S, Wang X, Jewett T, Rosso G, Lin X, Mohammed S, Merritt JL 2nd, Mirzaa GM, Timms AE, Scheck J, Elting MW, Polstra AM, Schenck L, Ruzhnikov MRZ, Vetro A, Montomoli M, Guerrini R, Koboldt DC, Mosher TM, Pastore MT, McBride KL, Peng J, Pan Z, Willemsen M, Koning S, Turnpenny PD, de Vries BBA, Gilissen C, Pfundt R, Lees M, Braddock SR, Klemp KC, Vansenne F, van Gijn ME, Quindipan C, Deardorff MA, Hamm JA, Putnam AM, Baud R, Walsh L, Lynch SA, Baptista J, Person RE, Monaghan KG, Crunk A, Keller-Ramey J, Reich A, Elloumi HZ, Alders M, Kerkhof J, McConkey H, Haghshenas S, Maroofian R, Sadikovic B, Banka S, Arold ST, Barakat TS", "reference": { 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "VPS35 mutations in Parkinson disease.", "journal": "American journal of human genetics", "date": "2011", "authors": "Vilarino-Guell C, Wider C, Ross OA, Dachsel JC, Kachergus JM, Lincoln SJ, Soto-Ortolaza AI, Cobb SA, Wilhoite GJ, Bacon JA, Behrouz B, Melrose HL, Hentati E, Puschmann A, Evans DM, Conibear E, Wasserman WW, Aasly JO, Burkhard PR, Djaldetti R, Ghika J, Hentati F, Krygowska-Wajs A, Lynch T, Melamed E, Rajput A, Rajput AH, Solida A, Wu RM, Uitti RJ, Wszolek ZK, Vingerhoets F, Farrer MJ", "reference": { "type": "PubMed", "id": "21763482", "url": "https://pubmed.ncbi.nlm.nih.gov/21763482" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96QK1-1", "protein_name": "Vacuolar protein sorting-associated protein 35", "gene_name": "VPS35", "tax_name": "Human" }, { "uniprot_canonical_ac": "P20702-1", 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.", "journal": "American journal of human genetics", "date": "2011", "authors": "Zimprich A, Benet-Pages A, Struhal W, Graf E, Eck SH, Offman MN, Haubenberger D, Spielberger S, Schulte EC, Lichtner P, Rossle SC, Klopp N, Wolf E, Seppi K, Pirker W, Presslauer S, Mollenhauer B, Katzenschlager R, Foki T, Hotzy C, Reinthaler E, Harutyunyan A, Kralovics R, Peters A, Zimprich F, Brucke T, Poewe W, Auff E, Trenkwalder C, Rost B, Ransmayr G, Winkelmann J, Meitinger T, Strom TM", "reference": { "type": "PubMed", "id": "21763483", "url": "https://pubmed.ncbi.nlm.nih.gov/21763483" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96QK1-1", "protein_name": "Vacuolar protein sorting-associated protein 35", "gene_name": "VPS35", 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"o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Recruitment of the endosomal WASH complex is mediated by the extended 'tail' of Fam21 binding to the retromer protein Vps35.", "journal": "The Biochemical journal", "date": "2012", "authors": "Harbour ME, Breusegem SY, Seaman MN", "reference": { "type": "PubMed", "id": "22070227", "url": "https://pubmed.ncbi.nlm.nih.gov/22070227" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96QK1-1", "protein_name": "Vacuolar protein sorting-associated protein 35", "gene_name": "VPS35", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75436-1", "protein_name": "Vacuolar protein sorting-associated protein 26A", "gene_name": "VPS26A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y4E1-7", "protein_name": "WASH complex subunit 2C", "gene_name": "WASHC2C", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96QK1", 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link the WASH actin regulatory complex to the retromer.", "journal": "Molecular biology of the cell", "date": "2012-06", "authors": "Jia Da, Gomez Timothy S, Billadeau Daniel D, Rosen Michael K", "reference": { "type": "PubMed", "id": "22513087", "url": "https://pubmed.ncbi.nlm.nih.gov/22513087" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96QK1-1", "protein_name": "Vacuolar protein sorting-associated protein 35", "gene_name": "VPS35", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y4E1-7", "protein_name": "WASH complex subunit 2C", "gene_name": "WASHC2C", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96QK1", "url": "https://www.uniprot.org/uniprotkb/Q96QK1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.22513087", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], 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[] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A global analysis of SNX27-retromer assembly and cargo specificity reveals a function in glucose and metal ion transport.", "journal": "Nature cell biology", "date": "2013-05", "authors": "Steinberg Florian, Gallon Matthew, Winfield Mark, Thomas Elaine C, Bell Amanda J, Heesom Kate J, Tavar\u00e9 Jeremy M, Cullen Peter J", "reference": { "type": "PubMed", "id": "23563491", "url": "https://pubmed.ncbi.nlm.nih.gov/23563491" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96QK1-1", "protein_name": "Vacuolar protein sorting-associated protein 35", "gene_name": "VPS35", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96L92-1", "protein_name": "Sorting nexin-27", "gene_name": "SNX27", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11166-1", "protein_name": "Solute carrier family 2, facilitated glucose transporter member 1", "gene_name": "SLC2A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UBQ0-1", "protein_name": "Vacuolar protein sorting-associated protein 29", "gene_name": "VPS29", "tax_name": "Human" }, { "uniprot_canonical_ac": 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"total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "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": "Retromer binding to FAM21 and the WASH complex is perturbed by the Parkinson disease-linked VPS35(D620N) mutation.", "journal": "Current biology : CB", "date": "2014", "authors": "McGough IJ, Steinberg F, Jia D, Barbuti PA, McMillan KJ, Heesom KJ, Whone AL, Caldwell MA, Billadeau DD, Rosen MK, Cullen PJ", "reference": { "type": "PubMed", "id": "24980502", "url": "https://pubmed.ncbi.nlm.nih.gov/24980502" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96QK1-1", "protein_name": "Vacuolar protein sorting-associated protein 35", "gene_name": "VPS35", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y4E1-7", "protein_name": "WASH complex subunit 2C", "gene_name": "WASHC2C", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96QK1", "url": "https://www.uniprot.org/uniprotkb/Q96QK1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.24980502", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { 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