[ { "title": "Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters.", "journal": "The Journal of clinical investigation", "date": "2008", "authors": "Broer S, Bailey CG, Kowalczuk S, Ng C, Vanslambrouck JM, Rodgers H, Auray-Blais C, Cavanaugh JA, Broer A, Rasko JE", "reference": { "type": "PubMed", "id": "19033659", "url": "https://pubmed.ncbi.nlm.nih.gov/19033659" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q495M3-1", "protein_name": "Proton-coupled amino acid transporter 2", "gene_name": "SLC36A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q695T7-1", "protein_name": "Sodium-dependent neutral amino acid transporter B(0)AT1", "gene_name": "SLC6A19", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96N87-1", "protein_name": "Inactive sodium-dependent neutral amino acid transporter B(0)AT3", "gene_name": "SLC6A18", "tax_name": "Human" }, { 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[] } ] }, { "title": "Human LAT1, a subunit of system L amino acid transporter: molecular cloning and transport function.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Prasad PD, Wang H, Huang W, Kekuda R, Rajan DP, Leibach FH, Ganapathy V", "reference": { "type": "PubMed", "id": "10049700", "url": "https://pubmed.ncbi.nlm.nih.gov/10049700" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6YBV0-1", "protein_name": "Neutral amino acid uniporter 4", "gene_name": "SLC36A4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P48775-1", "protein_name": "Tryptophan 2,3-dioxygenase", "gene_name": "TDO2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6YP21-1", "protein_name": "Kynurenine--oxoglutarate transaminase 3", "gene_name": "KYAT3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q63HM1-1", "protein_name": "Kynurenine formamidase", "gene_name": "AFMID", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q01650-1", "protein_name": "Large neutral amino acids transporter small subunit 1", "gene_name": "SLC7A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q794F9-1", "protein_name": "Amino acid transporter heavy chain SLC3A2", "gene_name": "Slc3a2", "tax_name": "Rat" }, { "uniprot_canonical_ac": "P08195-2", "protein_name": "Amino acid transporter heavy chain SLC3A2", "gene_name": "SLC3A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P46952-1", "protein_name": "3-hydroxyanthranilate 3,4-dioxygenase", "gene_name": "HAAO", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16719-1", "protein_name": "Kynureninase", "gene_name": "KYNU", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15229-1", "protein_name": "Kynurenine 3-monooxygenase", "gene_name": "KMO", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6ZQW0-1", "protein_name": "Indoleamine 2,3-dioxygenase 2", "gene_name": "IDO2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16773-1", "protein_name": "Kynurenine--oxoglutarate transaminase 1", "gene_name": "KYAT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P14902-1", "protein_name": "Indoleamine 2,3-dioxygenase 1", "gene_name": "IDO1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N5Z0-1", "protein_name": "Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial", "gene_name": "AADAT", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TDX5-1", "protein_name": "2-amino-3-carboxymuconate-6-semialdehyde decarboxylase", "gene_name": "ACMSD", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6YBV0", "url": "https://www.uniprot.org/uniprotkb/Q6YBV0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10049700", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 15 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 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", 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"uniprot_canonical_ac": "Q16719-1", "protein_name": "Kynureninase", "gene_name": "KYNU", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15229-1", "protein_name": "Kynurenine 3-monooxygenase", "gene_name": "KMO", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6ZQW0-1", "protein_name": "Indoleamine 2,3-dioxygenase 2", "gene_name": "IDO2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16773-1", "protein_name": "Kynurenine--oxoglutarate transaminase 1", "gene_name": "KYAT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P14902-1", "protein_name": "Indoleamine 2,3-dioxygenase 1", "gene_name": "IDO1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N5Z0-1", "protein_name": "Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial", "gene_name": "AADAT", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TDX5-1", "protein_name": "2-amino-3-carboxymuconate-6-semialdehyde decarboxylase", "gene_name": "ACMSD", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6YBV0", "url": "https://www.uniprot.org/uniprotkb/Q6YBV0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10672018", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 14 } ], "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": 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[] } ] }, { "title": "The transamination of kynurenine.", "journal": "The Journal of biological chemistry", "date": "1953", "authors": "MILLER IL, TSUCHIDA M, ADELBERG EA", "reference": { "type": "PubMed", "id": "13069505", "url": "https://pubmed.ncbi.nlm.nih.gov/13069505" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6YBV0-1", "protein_name": "Neutral amino acid uniporter 4", "gene_name": "SLC36A4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P48775-1", "protein_name": "Tryptophan 2,3-dioxygenase", "gene_name": "TDO2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6YP21-1", "protein_name": "Kynurenine--oxoglutarate transaminase 3", "gene_name": "KYAT3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q63HM1-1", "protein_name": "Kynurenine formamidase", "gene_name": "AFMID", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q01650-1", "protein_name": "Large neutral amino acids transporter small subunit 1", "gene_name": "SLC7A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08195-2", "protein_name": "Amino acid transporter heavy chain SLC3A2", "gene_name": "SLC3A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P46952-1", "protein_name": "3-hydroxyanthranilate 3,4-dioxygenase", "gene_name": "HAAO", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16719-1", "protein_name": "Kynureninase", "gene_name": "KYNU", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15229-1", "protein_name": "Kynurenine 3-monooxygenase", "gene_name": "KMO", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6ZQW0-1", "protein_name": "Indoleamine 2,3-dioxygenase 2", "gene_name": "IDO2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16773-1", "protein_name": "Kynurenine--oxoglutarate transaminase 1", "gene_name": "KYAT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P14902-1", "protein_name": "Indoleamine 2,3-dioxygenase 1", "gene_name": "IDO1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N5Z0-1", "protein_name": "Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial", "gene_name": "AADAT", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TDX5-1", "protein_name": "2-amino-3-carboxymuconate-6-semialdehyde decarboxylase", "gene_name": "ACMSD", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6YBV0", "url": "https://www.uniprot.org/uniprotkb/Q6YBV0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.13069505", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 14 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { 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"protein_name": "Tryptophan 2,3-dioxygenase", "gene_name": "TDO2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6YP21-1", "protein_name": "Kynurenine--oxoglutarate transaminase 3", "gene_name": "KYAT3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q63HM1-1", "protein_name": "Kynurenine formamidase", "gene_name": "AFMID", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q01650-1", "protein_name": "Large neutral amino acids transporter small subunit 1", "gene_name": "SLC7A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08195-2", "protein_name": "Amino acid transporter heavy chain SLC3A2", "gene_name": "SLC3A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P46952-1", "protein_name": "3-hydroxyanthranilate 3,4-dioxygenase", "gene_name": "HAAO", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16719-1", "protein_name": "Kynureninase", "gene_name": "KYNU", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15229-1", "protein_name": "Kynurenine 3-monooxygenase", "gene_name": "KMO", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6ZQW0-1", "protein_name": "Indoleamine 2,3-dioxygenase 2", "gene_name": "IDO2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16773-1", "protein_name": "Kynurenine--oxoglutarate transaminase 1", "gene_name": "KYAT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P14902-1", "protein_name": "Indoleamine 2,3-dioxygenase 1", "gene_name": "IDO1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N5Z0-1", "protein_name": "Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial", "gene_name": "AADAT", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TDX5-1", "protein_name": "2-amino-3-carboxymuconate-6-semialdehyde decarboxylase", "gene_name": "ACMSD", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6YBV0", "url": "https://www.uniprot.org/uniprotkb/Q6YBV0" } ], "common_name": "Human", "glygen_name": "Human", 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"field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Characterization of kynurenine aminotransferase III, a novel member of a phylogenetically conserved KAT family.", "journal": "Gene", "date": "2006", "authors": "Yu P, Li Z, Zhang L, Tagle DA, Cai T", "reference": { "type": "PubMed", "id": "16376499", "url": "https://pubmed.ncbi.nlm.nih.gov/16376499" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6YBV0-1", "protein_name": "Neutral amino acid uniporter 4", "gene_name": "SLC36A4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P48775-1", "protein_name": "Tryptophan 2,3-dioxygenase", "gene_name": "TDO2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6YP21-1", "protein_name": "Kynurenine--oxoglutarate transaminase 3", "gene_name": "KYAT3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q63HM1-1", "protein_name": "Kynurenine formamidase", "gene_name": "AFMID", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q01650-1", "protein_name": "Large neutral amino acids transporter small subunit 1", "gene_name": "SLC7A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08195-2", "protein_name": "Amino acid transporter heavy chain SLC3A2", "gene_name": "SLC3A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P46952-1", "protein_name": "3-hydroxyanthranilate 3,4-dioxygenase", "gene_name": "HAAO", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16719-1", "protein_name": "Kynureninase", "gene_name": "KYNU", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15229-1", "protein_name": "Kynurenine 3-monooxygenase", "gene_name": "KMO", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6ZQW0-1", "protein_name": "Indoleamine 2,3-dioxygenase 2", "gene_name": "IDO2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16773-1", "protein_name": "Kynurenine--oxoglutarate transaminase 1", "gene_name": "KYAT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P14902-1", "protein_name": "Indoleamine 2,3-dioxygenase 1", "gene_name": "IDO1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q71RI9-1", "protein_name": "Kynurenine--oxoglutarate transaminase 3", "gene_name": "Kyat3", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q58FK9-1", "protein_name": "Kynurenine--oxoglutarate transaminase 3", "gene_name": "Kyat3", "tax_name": "Rat" }, { "uniprot_canonical_ac": "Q8N5Z0-1", "protein_name": "Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial", "gene_name": "AADAT", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TDX5-1", "protein_name": "2-amino-3-carboxymuconate-6-semialdehyde decarboxylase", "gene_name": "ACMSD", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6YBV0", "url": "https://www.uniprot.org/uniprotkb/Q6YBV0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16376499", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 16 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", 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], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Crystal structure of human indoleamine 2,3-dioxygenase: catalytic mechanism of O2 incorporation by a heme-containing dioxygenase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Sugimoto H, Oda S, Otsuki T, Hino T, Yoshida T, Shiro Y", "reference": { "type": "PubMed", "id": "16477023", "url": "https://pubmed.ncbi.nlm.nih.gov/16477023" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6YBV0-1", 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"Kynureninase", "gene_name": "KYNU", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15229-1", "protein_name": "Kynurenine 3-monooxygenase", "gene_name": "KMO", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6ZQW0-1", "protein_name": "Indoleamine 2,3-dioxygenase 2", "gene_name": "IDO2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16773-1", "protein_name": "Kynurenine--oxoglutarate transaminase 1", "gene_name": "KYAT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P14902-1", "protein_name": "Indoleamine 2,3-dioxygenase 1", "gene_name": "IDO1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N5Z0-1", "protein_name": "Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial", "gene_name": "AADAT", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TDX5-1", "protein_name": "2-amino-3-carboxymuconate-6-semialdehyde decarboxylase", "gene_name": "ACMSD", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6YBV0", "url": "https://www.uniprot.org/uniprotkb/Q6YBV0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16477023", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 14 } ], "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": 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and structure of human aminoadipate aminotransferase/kynurenine aminotransferase II.", "journal": "Bioscience reports", "date": "2008-08", "authors": "Han Qian, Cai Tao, Tagle Danilo A, Robinson Howard, Li Jianyong", "reference": { "type": "PubMed", "id": "18620547", "url": "https://pubmed.ncbi.nlm.nih.gov/18620547" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6YBV0-1", "protein_name": "Neutral amino acid uniporter 4", "gene_name": "SLC36A4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P48775-1", "protein_name": "Tryptophan 2,3-dioxygenase", "gene_name": "TDO2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6YP21-1", "protein_name": "Kynurenine--oxoglutarate transaminase 3", "gene_name": "KYAT3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q63HM1-1", "protein_name": "Kynurenine formamidase", "gene_name": "AFMID", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q01650-1", "protein_name": "Large neutral amino acids transporter small 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"The amino acid transporter SLC36A4 regulates the amino acid pool in retinal pigmented epithelial cells and mediates the mechanistic target of rapamycin, complex 1 signaling.", "journal": "Aging Cell", "date": "2017", "authors": "Shang P, Valapala M, Grebe R, Hose S, Ghosh S, Bhutto IA, Handa JT, Lutty GA, Lu L, Wan J, Qian J, Sergeev Y, Puertollano R, Zigler JS Jr, Xu GT, Sinha D", "reference": { "type": "PubMed", "id": "28083894", "url": "https://pubmed.ncbi.nlm.nih.gov/28083894" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6YBV0-1", "protein_name": "Neutral amino acid uniporter 4", "gene_name": "SLC36A4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8CH36-1", "protein_name": "Neutral amino acid uniporter 4", "gene_name": "Slc36a4", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "P05813-1", "protein_name": "Beta-crystallin A3", "gene_name": "CRYBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": 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"Sequence of human tryptophan 2,3-dioxygenase (TDO2): presence of a glucocorticoid response-like element composed of a GTT repeat and an intronic CCCCT repeat.", "journal": "Genomics", "date": "1995", "authors": "Comings DE, Muhleman D, Dietz G, Sherman M, Forest GL", "reference": { "type": "PubMed", "id": "8666386", "url": "https://pubmed.ncbi.nlm.nih.gov/8666386" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6YBV0-1", "protein_name": "Neutral amino acid uniporter 4", "gene_name": "SLC36A4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P48775-1", "protein_name": "Tryptophan 2,3-dioxygenase", "gene_name": "TDO2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6YP21-1", "protein_name": "Kynurenine--oxoglutarate transaminase 3", "gene_name": "KYAT3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q63HM1-1", "protein_name": "Kynurenine formamidase", "gene_name": "AFMID", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q01650-1", "protein_name": "Large neutral amino acids transporter small subunit 1", "gene_name": "SLC7A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08195-2", "protein_name": "Amino acid transporter heavy chain SLC3A2", "gene_name": "SLC3A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P46952-1", "protein_name": "3-hydroxyanthranilate 3,4-dioxygenase", "gene_name": "HAAO", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16719-1", "protein_name": "Kynureninase", "gene_name": "KYNU", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15229-1", "protein_name": "Kynurenine 3-monooxygenase", "gene_name": "KMO", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6ZQW0-1", "protein_name": "Indoleamine 2,3-dioxygenase 2", "gene_name": "IDO2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16773-1", "protein_name": "Kynurenine--oxoglutarate transaminase 1", "gene_name": "KYAT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P14902-1", "protein_name": "Indoleamine 2,3-dioxygenase 1", "gene_name": "IDO1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N5Z0-1", "protein_name": "Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial", "gene_name": "AADAT", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TDX5-1", "protein_name": "2-amino-3-carboxymuconate-6-semialdehyde decarboxylase", "gene_name": "ACMSD", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6YBV0", "url": "https://www.uniprot.org/uniprotkb/Q6YBV0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8666386", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 14 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": 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"glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Cloning and recombinant expression of rat and human kynureninase.", "journal": "FEBS letters", "date": "1997", "authors": "Toma S, Nakamura M, Tone S, Okuno E, Kido R, Breton J, Avanzi N, Cozzi L, Speciale C, Mostardini M, Gatti S, Benatti L", "reference": { "type": "PubMed", "id": "9180257", "url": "https://pubmed.ncbi.nlm.nih.gov/9180257" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6YBV0-1", "protein_name": "Neutral amino acid uniporter 4", "gene_name": "SLC36A4", "tax_name": "Human" }, { 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"protein_name": "Kynurenine 3-monooxygenase", "gene_name": "KMO", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6ZQW0-1", "protein_name": "Indoleamine 2,3-dioxygenase 2", "gene_name": "IDO2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16773-1", "protein_name": "Kynurenine--oxoglutarate transaminase 1", "gene_name": "KYAT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P14902-1", "protein_name": "Indoleamine 2,3-dioxygenase 1", "gene_name": "IDO1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P70712-1", "protein_name": "Kynureninase", "gene_name": "Kynu", "tax_name": "Rat" }, { "uniprot_canonical_ac": "Q8N5Z0-1", "protein_name": "Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial", "gene_name": "AADAT", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TDX5-1", "protein_name": "2-amino-3-carboxymuconate-6-semialdehyde decarboxylase", "gene_name": "ACMSD", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6YBV0", "url": "https://www.uniprot.org/uniprotkb/Q6YBV0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9180257", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 15 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 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": 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polymerase I transcription by stimulating promoter escape.", "journal": "The EMBO journal", "date": "2006-07-26", "authors": "Panov Kostya I, Friedrich J Karsten, Russell Jackie, Zomerdijk Joost C B M", "reference": { "type": "PubMed", "id": "16858408", "url": "https://pubmed.ncbi.nlm.nih.gov/16858408" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H9Y6-1", "protein_name": "DNA-directed RNA polymerase I subunit RPA2", "gene_name": "POLR1B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P17480-1", "protein_name": "Nucleolar transcription factor 1", "gene_name": "UBTF", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95602-1", "protein_name": "DNA-directed RNA polymerase I subunit RPA1", "gene_name": "POLR1A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H9Y6", "url": "https://www.uniprot.org/uniprotkb/Q9H9Y6" } ], "common_name": "Human", "glygen_name": "Human", 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J. Oncol.", "date": "2005", "authors": "Acquati Francesco, Possati Laura, Ferrante Luigi, Campomenosi Paola, Talevi Simona, Bardelli Silvana, Margiotta Chiara, Russo Antonella, Bortoletto Elisabetta, Rocchetti Romina, Calza Roberta, Cinquetti Raffaella, Monti Laura, Salis Silvia, Barbanti-Brodano Giuseppe, Taramelli Roberto", "reference": { "type": "PubMed", "id": "15809705", "url": "https://pubmed.ncbi.nlm.nih.gov/15809705" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O00584-1", "protein_name": "Ribonuclease T2", "gene_name": "RNASET2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00584", "url": "https://www.uniprot.org/uniprotkb/O00584" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15809705", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": 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"count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Mammalian Rh/T2/S-glycoprotein ribonuclease family genes: cloning of a human member located in a region of chromosome 6 (6q27) frequently deleted in human malignancies.", "journal": "Genomics", "date": "1997", "authors": "Trubia M, Sessa L, Taramelli R", "reference": { "type": "PubMed", "id": "9192857", "url": "https://pubmed.ncbi.nlm.nih.gov/9192857" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O00584-1", "protein_name": "Ribonuclease T2", "gene_name": "RNASET2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00584", "url": "https://www.uniprot.org/uniprotkb/O00584" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9192857", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], 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}, { "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": "CREPT accelerates tumorigenesis by regulating the transcription of cell-cycle-related genes.", "journal": "Cancer cell", "date": "2012", "authors": "Lu D, Wu Y, Wang Y, Ren F, Wang D, Su F, Zhang Y, Yang X, Jin G, Hao X, He D, Zhai Y, Irwin DM, Hu J, Sung JJ, Yu J, Jia B, Chang Z", "reference": { "type": "PubMed", 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], "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 for the recognition of RNA polymerase II C-terminal domain by CREPT and p15RS.", "journal": "Science China. 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"id": "DOID:0080566", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080566", "name": "congenital disorder of glycosylation In", "description": "A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21." }, "synonyms": [ { "id": "DOID:0080566", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080566", "name": "congenital disorder of glycosylation 1n", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "RFT1-congenital disorder of glycosylation", "description": "RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1)." }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "CDG syndrome type In", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "CDG-In", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "CDG1N", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "Man5GlcNAc2-PP-Dol flippase deficiency", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "RFT1-CDG", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "RFT1-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "carbohydrate deficient glycoprotein syndrome type In", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "congenital disorder of glycosylation type 1n", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "congenital disorder of glycosylation type In", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "CDGIN", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "RFT1-CDG (CDG-In)", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "congenital disorder of glycosylation, type In", "description": "" }, { "id": "MIM:612015", "resource": "MIM", "url": "https://www.omim.org/entry/612015", "name": "Congenital disorder of glycosylation 1N", "description": "Congenital disorder of glycosylation 1N" } ], "unlinked_id_list": [], "evidence": [ { "id": "RFT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/RFT1/#!details" }, { "id": "91869", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/91869#disease" }, { "id": "0080566", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080566" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000001000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q96AA3-1" }, { "evidence": [ { "id": "rs796053521", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs796053521" }, { "id": "rs796053521", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs796053521" }, { "id": "19701946", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19701946" } ], "glycoeffect": [], "start_pos": 298, "end_pos": 298, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, llo pathway.", "chr_id": "3", "chr_pos": "53105738", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E298", "disease": [ { "disease_id": "DOID:0080566", "recommended_name": { "id": "DOID:0080566", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080566", "name": "congenital disorder of glycosylation In", "description": "A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21." }, "synonyms": [ { "id": "DOID:0080566", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080566", "name": "congenital disorder of glycosylation 1n", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "RFT1-congenital disorder of glycosylation", "description": "RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1)." }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "CDG syndrome type In", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "CDG-In", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "CDG1N", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "Man5GlcNAc2-PP-Dol flippase deficiency", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "RFT1-CDG", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "RFT1-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "carbohydrate deficient glycoprotein syndrome type In", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "congenital disorder of glycosylation type 1n", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "congenital disorder of glycosylation type In", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "CDGIN", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "RFT1-CDG (CDG-In)", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "congenital disorder of glycosylation, type In", "description": "" }, { "id": "MIM:612015", "resource": "MIM", "url": "https://www.omim.org/entry/612015", "name": "Congenital disorder of glycosylation 1N", "description": "Congenital disorder of glycosylation 1N" } ], "unlinked_id_list": [], "evidence": [ { "id": "RFT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/RFT1/#!details" }, { "id": "91869", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/91869#disease" }, { "id": "0080566", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080566" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000001000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q96AA3-1" }, { "evidence": [ { "id": "Q96AA3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AA3" }, { "id": "rs118203913", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs118203913" }, { "id": "rs118203913", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs118203913" }, { "id": "rs118203913", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs118203913#frequency_tab" }, { "id": "rs118203913", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs118203913" }, { "id": "18313027", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18313027" }, { "id": "19701946", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19701946" } ], "glycoeffect": [], "start_pos": 67, "end_pos": 67, "subjects_tested": "4177", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, llo pathway).", "chr_id": "3", "chr_pos": "53123791", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R67", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:0080566", "recommended_name": { "id": "DOID:0080566", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080566", "name": "congenital disorder of glycosylation In", "description": "A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21." }, "synonyms": [ { "id": "DOID:0080566", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080566", "name": "congenital disorder of glycosylation 1n", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "RFT1-congenital disorder of glycosylation", "description": "RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1)." }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "CDG syndrome type In", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "CDG-In", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "CDG1N", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "Man5GlcNAc2-PP-Dol flippase deficiency", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "RFT1-CDG", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "RFT1-congenital disorder of 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resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21." }, "synonyms": [ { "id": "DOID:0080566", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080566", "name": "congenital disorder of glycosylation 1n", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "RFT1-congenital disorder of glycosylation", "description": "RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental 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Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1)." }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "CDG syndrome type In", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "CDG-In", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "CDG1N", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "Man5GlcNAc2-PP-Dol flippase deficiency", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "RFT1-CDG", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "RFT1-congenital disorder of 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Zhongjie, Ma Jian-Xing, Li Wen-Hong, Chen Jing", "reference": { "type": "PubMed", "id": "36454214", "url": "https://pubmed.ncbi.nlm.nih.gov/36454214" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8WUX1-1", "protein_name": "Sodium-coupled neutral amino acid transporter 5", "gene_name": "SLC38A5", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WUX1", "url": "https://www.uniprot.org/uniprotkb/Q8WUX1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.36454214", "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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Genet.", "date": "1998", "authors": "Kedra D, Pan HQ, Seroussi E, Fransson I, Guilbaud C, Collins JE, Dunham I, Blennow E, Roe BA, Piehl F, Dumanski JP", "reference": { "type": "PubMed", "id": "9760194", "url": "https://pubmed.ncbi.nlm.nih.gov/9760194" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O43760-1", "protein_name": "Synaptogyrin-2", "gene_name": "SYNGR2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O55101-1", "protein_name": "Synaptogyrin-2", "gene_name": "Syngr2", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "A8MWL6-1", "protein_name": "Putative synaptogyrin-2 like protein", "gene_name": "", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43761-1", "protein_name": "Synaptogyrin-3", "gene_name": "SYNGR3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O55100-1", "protein_name": "Synaptogyrin-1", "gene_name": "Syngr1", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "O43759-1", "protein_name": "Synaptogyrin-1", "gene_name": 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Biochem. Biophys.", "date": "2006", "authors": "Li Tianwei, Santockyte Rasa, Shen Rong-Fong, Tekle Ephrem, Wang Guanghui, Yang David C H, Chock P Boon", "reference": { "type": "PubMed", "id": "16620772", "url": "https://pubmed.ncbi.nlm.nih.gov/16620772" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UBE0-1", "protein_name": "SUMO-activating enzyme subunit 1", "gene_name": "SAE1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UBT2-1", "protein_name": "SUMO-activating enzyme subunit 2", "gene_name": "UBA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P63279-1", "protein_name": "SUMO-conjugating enzyme UBC9", "gene_name": "UBE2I", "tax_name": "Human" }, { "uniprot_canonical_ac": "P49792-1", "protein_name": "E3 SUMO-protein ligase RanBP2", "gene_name": "RANBP2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBE0", "url": "https://www.uniprot.org/uniprotkb/Q9UBE0" } ], 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"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": "Increased Small Ubiquitin-like Modifier-Activating\u00a0Enzyme SAE1 Promotes Hepatocellular Carcinoma by Enhancing mTOR SUMOylation.", "journal": "Laboratory investigation; a journal of technical methods and pathology", "date": "2023-01", "authors": "Chen Yuwei, Peng Wei, Tao Qing, Li Shengfu, Wu Zhenru, Zhou Yongjie, Xu Qing, Shu Yuke, Xu Yahong, Shao Mingyang, Chen Menglin, Shi Yujun", "reference": { "type": "PubMed", "id": "36748193", "url": "https://pubmed.ncbi.nlm.nih.gov/36748193" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UBE0-1", "protein_name": "SUMO-activating enzyme subunit 1", "gene_name": "SAE1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBE0", "url": "https://www.uniprot.org/uniprotkb/Q9UBE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.36748193", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": 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