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"Altered contractility, Ca2+ transients, and cell morphology seen in a patient-specific iPSC-CM model of Ebstein's anomaly with left ventricular noncompaction.", "journal": "American journal of physiology. 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Death usually occurs within the first year of life." }, "synonyms": [ { "id": "DOID:14497", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14497", "name": "Acid esterase deficiency", "description": "" }, { "id": "DOID:14497", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14497", "name": "Acid lipase deficiency", "description": "" }, { "id": "DOID:14497", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14497", "name": "Wolman xanthomatosis", "description": "" }, { "id": "DOID:14497", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14497", "name": "Wolman's disease", "description": "" }, { "id": "DOID:14497", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14497", "name": "Wolman's or triglyceride storage type III disease", "description": "" }, { "id": "DOID:14497", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14497", "name": "Xanthomatosis, familial", "description": "" }, { "id": "DOID:14497", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14497", "name": "acute infantile lysosomal acid lipase deficiency", "description": "" }, { "id": "DOID:14497", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14497", "name": "complete LAL deficiency", "description": "" }, { "id": "DOID:14497", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14497", "name": "complete LIPA deficiency", "description": "" }, { "id": "DOID:14497", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14497", "name": "complete cholesterol ester hydrolase deficiency", "description": "" }, { "id": "DOID:14497", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14497", "name": "complete lysosomal acid lipase deficiency", "description": "" }, { "id": "MONDO:0019148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019148", "name": "Wolman disease", "description": "Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. 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type=glycogene, glycolipid-related.", "chr_id": "10", "chr_pos": "89225168", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L200", "disease": [ { "disease_id": "DOID:0080217", "recommended_name": { "id": "DOID:0080217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080217", "name": "lysosomal acid lipase deficiency", "description": "A lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that has_material_basis_in homozygous or compound heterozygous mutation in the LIPA gene on chromosome 10q23.31." }, "synonyms": [ { "id": "DOID:0080217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080217", "name": "LAL deficiency", "description": "" }, { "id": "DOID:0080217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080217", "name": "LAL-D", "description": "" }, { "id": "MONDO:0019149", 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"name": "cholesterol ester storage disease", "description": "" }, { "id": "MONDO:0019149", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019149", "name": "lysosomal acid lipase deficiency, partial", "description": "" }, { "id": "MONDO:0019149", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019149", "name": "CESD", "description": "" }, { "id": "MIM:278000", "resource": "MIM", "url": "https://www.omim.org/entry/278000", "name": "Cholesteryl ester storage disease", "description": "Cholesteryl ester storage disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080217" }, { "id": "0080217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080217" } ] }, { "disease_id": "DOID:14502", "recommended_name": { "id": "DOID:14502", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14502", "name": 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"recommended_name": { "id": "DOID:14497", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14497", "name": "Wolman disease", "description": "A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life." }, "synonyms": [ { "id": "DOID:14497", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14497", "name": "Acid esterase deficiency", "description": "" }, { "id": "DOID:14497", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14497", "name": "Acid lipase deficiency", "description": "" }, { "id": "DOID:14497", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14497", "name": "Wolman xanthomatosis", "description": "" }, { "id": "DOID:14497", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14497", "name": "Wolman's disease", "description": "" }, { "id": "DOID:14497", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14497", "name": "Wolman's or triglyceride storage type III disease", "description": "" }, { "id": "DOID:14497", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14497", "name": "Xanthomatosis, familial", "description": "" }, { "id": "DOID:14497", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14497", "name": "acute infantile lysosomal acid lipase deficiency", "description": "" }, { "id": "DOID:14497", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14497", "name": "complete LAL deficiency", "description": "" }, { "id": "DOID:14497", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14497", "name": "complete LIPA deficiency", "description": "" }, { "id": "DOID:14497", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14497", "name": "complete cholesterol ester hydrolase deficiency", "description": "" }, { "id": "DOID:14497", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14497", "name": "complete lysosomal acid lipase deficiency", "description": "" }, { "id": "MONDO:0019148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019148", "name": "Wolman disease", "description": "Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues." }, { "id": "MONDO:0019148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019148", "name": "lysosomal acid lipase deficiency", "description": "" }, { "id": "MONDO:0019148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019148", "name": "Wolman disease with hypolipoproteinemia and acanthocytosis", "description": "" }, { "id": "MONDO:0019148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019148", "name": "Wolman's disease", "description": "" }, { "id": "MONDO:0019148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019148", "name": "familial xanthomatosis", "description": "" }, { "id": "MONDO:0019148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019148", "name": "liposomal acid lipase deficiency, Wolman type", "description": "" }, { "id": "MIM:620151", "resource": "MIM", "url": "https://www.omim.org/entry/620151", "name": "Wolman disease", "description": "Wolman disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14497", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14497" }, { "id": "14497", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14497" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P38571-1" } ], "record_id": "pubmed.8598644", "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": "Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.", "journal": "Genomics", "date": "1996-04-01", "authors": "Aslanidis C, Ries S, Fehringer P, B\u00fcchler C, Klima H, Schmitz G", "reference": { "type": "PubMed", "id": "8617513", "url": "https://pubmed.ncbi.nlm.nih.gov/8617513" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P38571-1", "protein_name": "Lysosomal acid lipase/cholesteryl ester hydrolase", "gene_name": "LIPA", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P38571", "url": "https://www.uniprot.org/uniprotkb/P38571" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs267607218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267607218" }, { "id": "rs267607218", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs267607218#frequency_tab" }, { "id": "rs267607218", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs267607218" }, { "id": "8254026", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8254026" }, { "id": "8617513", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8617513" }, { "id": "rs267607218", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs267607218" } ], "glycoeffect": [], "start_pos": 266, "end_pos": 266, "sequence_org": "G", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, glycolipid-related.", "chr_id": "10", "chr_pos": "89223710", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G266", "disease": [ { "disease_id": "DOID:0080217", "recommended_name": { "id": "DOID:0080217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080217", "name": "lysosomal acid lipase deficiency", "description": "A lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that has_material_basis_in homozygous or compound heterozygous mutation in the LIPA gene on chromosome 10q23.31." }, "synonyms": [ { "id": "DOID:0080217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080217", "name": "LAL deficiency", "description": "" }, { "id": "DOID:0080217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080217", "name": "LAL-D", "description": "" }, { "id": "MONDO:0019149", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019149", "name": "cholesteryl ester storage disease", "description": "A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia." }, { "id": "MONDO:0019149", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019149", "name": "LAL deficiency, partial", "description": "" }, { "id": "MONDO:0019149", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019149", "name": "LIPA deficiency, partial", "description": "" }, { "id": "MONDO:0019149", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019149", "name": "cholesterol ester hydrolase deficiency, partial", "description": "" }, { "id": "MONDO:0019149", "resource": "MONDO", "url": 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Exp. Med.", "date": "2000", "authors": "Wu J, Cherwinski H, Spies T, Phillips JH, Lanier LL", "reference": { "type": "PubMed", "id": "11015446", "url": "https://pubmed.ncbi.nlm.nih.gov/11015446" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P26718-1", "protein_name": "NKG2-D type II integral membrane protein", "gene_name": "KLRK1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UBK5-1", "protein_name": "Hematopoietic cell signal transducer", "gene_name": "HCST", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P26718", "url": "https://www.uniprot.org/uniprotkb/P26718" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11015446", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "UL16-binding proteins, novel MHC class I-related proteins, bind to NKG2D and activate multiple signaling pathways in primary NK cells.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2002", "authors": "Sutherland CL, Chalupny NJ, Schooley K, VandenBos T, Kubin M, Cosman D", "reference": { "type": "PubMed", "id": "11777960", "url": "https://pubmed.ncbi.nlm.nih.gov/11777960" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P26718-1", "protein_name": "NKG2-D type II integral membrane protein", "gene_name": "KLRK1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q29983-1", "protein_name": "MHC class I polypeptide-related sequence A", "gene_name": "MICA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BZM4-1", "protein_name": "UL16-binding protein 3", "gene_name": "ULBP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q29980-1", "protein_name": "MHC class I 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"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": "Lymphocyte activation via NKG2D: towards a new paradigm in immune recognition?", "journal": "Curr. Opin. Immunol.", "date": "2002", "authors": "Vivier Eric, Tomasello Elena, Paul Pascale", "reference": { "type": "PubMed", "id": "11973127", "url": "https://pubmed.ncbi.nlm.nih.gov/11973127" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P26718-1", "protein_name": "NKG2-D type II integral membrane protein", "gene_name": "KLRK1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O54709-1", "protein_name": "NKG2-D type II integral membrane protein", "gene_name": "Klrk1", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P26718", "url": "https://www.uniprot.org/uniprotkb/P26718" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11973127", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ 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Immunology", "date": "2003-10", "authors": "Raulet David H", "reference": { "type": "PubMed", "id": "14523385", "url": "https://pubmed.ncbi.nlm.nih.gov/14523385" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P26718-1", "protein_name": "NKG2-D type II integral membrane protein", "gene_name": "KLRK1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P26718", "url": "https://www.uniprot.org/uniprotkb/P26718" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.14523385", "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", 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Immunol.", "date": "2004", "authors": "Rosen David B, Araki Manabu, Hamerman Jessica A, Chen Taian, Yamamura Takashi, Lanier Lewis L", "reference": { "type": "PubMed", "id": "15294961", "url": "https://pubmed.ncbi.nlm.nih.gov/15294961" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P26718-1", "protein_name": "NKG2-D type II integral membrane protein", "gene_name": "KLRK1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O54885-1", "protein_name": "TYRO protein tyrosine kinase-binding protein", "gene_name": "Tyrobp", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q9QUJ0-1", "protein_name": "Hematopoietic cell signal transducer", "gene_name": "Hcst", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "O54709-1", "protein_name": "NKG2-D type II integral membrane protein", "gene_name": "Klrk1", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q9UBK5-1", "protein_name": "Hematopoietic cell signal transducer", "gene_name": "HCST", "tax_name": "Human" } 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cirrhosis.", "journal": "Human immunology", "date": "2024-05", "authors": "Ma Yangqing, Ping Dabing, Huang Kai, Tao Yanyan, Peng Yuan, Sun Xin, Liu Chenghai", "reference": { "type": "PubMed", "id": "38493049", "url": "https://pubmed.ncbi.nlm.nih.gov/38493049" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P26718-1", "protein_name": "NKG2-D type II integral membrane protein", "gene_name": "KLRK1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P26718", "url": "https://www.uniprot.org/uniprotkb/P26718" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38493049", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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J.", "date": "2011", "authors": "Boulay G, Rosnoblet C, Guerardel C, Angrand PO, Leprince D", "reference": { "type": "PubMed", "id": "21143197", "url": "https://pubmed.ncbi.nlm.nih.gov/21143197" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q5T6S3-1", "protein_name": "PHD finger protein 19", "gene_name": "PHF19", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5T6S3", "url": "https://www.uniprot.org/uniprotkb/Q5T6S3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.21143197", "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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