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"count": 0 } ], "sort_fields": [] } ] }, { "title": "Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome.", "journal": "American journal of human genetics", "date": "2011", "authors": "Belostotsky R, Ben-Shalom E, Rinat C, Becker-Cohen R, Feinstein S, Zeligson S, Segel R, Elpeleg O, Nassar S, Frishberg Y", "reference": { "type": "PubMed", "id": "21255763", "url": "https://pubmed.ncbi.nlm.nih.gov/21255763" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NP81-1", "protein_name": "Serine--tRNA ligase, mitochondrial", "gene_name": "SARS2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NP81", "url": "https://www.uniprot.org/uniprotkb/Q9NP81" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.21255763", 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HC, Poduri A, Agrawal PB", "reference": { "type": "PubMed", "id": "23550958", "url": "https://pubmed.ncbi.nlm.nih.gov/23550958" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q99250-1", "protein_name": "Sodium channel protein type 2 subunit alpha", "gene_name": "SCN2A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99250", "url": "https://www.uniprot.org/uniprotkb/Q99250" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.23550958", "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", 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associated with infantile spasms and bitemporal glucose hypometabolism.", "journal": "Pediatric neurology", "date": "2013", "authors": "Sundaram SK, Chugani HT, Tiwari VN, Huq AH", "reference": { "type": "PubMed", "id": "23827426", "url": "https://pubmed.ncbi.nlm.nih.gov/23827426" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q99250-1", "protein_name": "Sodium channel protein type 2 subunit alpha", "gene_name": "SCN2A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99250", "url": "https://www.uniprot.org/uniprotkb/Q99250" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.23827426", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], 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Biophys. Res. Commun.", "date": "2003", "authors": "Fukuda M", "reference": { "type": "PubMed", "id": "12788067", "url": "https://pubmed.ncbi.nlm.nih.gov/12788067" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BQS2-1", "protein_name": "Synaptotagmin-15", "gene_name": "SYT15", "tax_name": "Human" }, { "uniprot_canonical_ac": "P59926-1", "protein_name": "Synaptotagmin-15", "gene_name": "Syt15", "tax_name": "Rat" }, { "uniprot_canonical_ac": "Q8C6N3-1", "protein_name": "Synaptotagmin-15", "gene_name": "Syt15", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BQS2", "url": "https://www.uniprot.org/uniprotkb/Q9BQS2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12788067", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "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": "Isolation and characterization of a novel gene encoding a putative seven-span transmembrane protein, TM7SF3.", "journal": "Cytogenet. Cell Genet.", "date": "2000", "authors": "Akashi H, Han H J, Iizaka M, Nakajima Y, Furukawa Y, Sugano S, Imai K, Nakamura Y", "reference": { "type": "PubMed", "id": "10828615", "url": "https://pubmed.ncbi.nlm.nih.gov/10828615" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NS93-1", "protein_name": "Transmembrane 7 superfamily member 3", "gene_name": "TM7SF3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NS93", "url": "https://www.uniprot.org/uniprotkb/Q9NS93" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10828615", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", 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], "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": "An siRNA screen identifies transmembrane 7 superfamily member 3 (TM7SF3), a seven transmembrane orphan receptor, as an inhibitor of cytokine-induced death of pancreatic beta cells.", "journal": "Diabetologia", "date": "2011", "authors": "Beck A, Isaac R, Lavelin I, Hart Y, Volberg T, Shatz-Azoulay H, Geiger B, Zick Y", "reference": { "type": "PubMed", "id": "21853325", "url": "https://pubmed.ncbi.nlm.nih.gov/21853325" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": 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"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": 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"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": "TM7SF3, a novel p53-regulated homeostatic factor, attenuates cellular stress and the subsequent induction of the unfolded protein response.", "journal": "Cell death and differentiation", "date": "2017", "authors": "Isaac R, Goldstein I, Furth N, Zilber N, Streim S, Boura-Halfon S, Elhanany E, Rotter V, Oren M, Zick Y", "reference": { "type": "PubMed", "id": "27740623", "url": "https://pubmed.ncbi.nlm.nih.gov/27740623" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NS93-1", "protein_name": "Transmembrane 7 superfamily member 3", "gene_name": "TM7SF3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9CRG1-1", "protein_name": "Transmembrane 7 superfamily member 3", "gene_name": "Tm7sf3", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NS93", "url": "https://www.uniprot.org/uniprotkb/Q9NS93" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.27740623", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "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 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "TM7SF3 controls TEAD1 splicing to prevent MASH-induced liver fibrosis.", "journal": "Cell metabolism", "date": "2024-05-07", "authors": "Isaac Roi, Bandyopadhyay Gautam, Rohm Theresa V, Kang Sion, Wang Jinyue, Pokhrel Narayan, Sakane Sadatsugu, Zapata Rizaldy, Libster Avraham M, Vinik Yaron, Berhan Asres, Kisseleva Tatiana, Borok Zea, Zick Yehiel, Telese Francesca, Webster Nicholas J G, Olefsky Jerrold M", "reference": { "type": "PubMed", "id": "38670107", "url": "https://pubmed.ncbi.nlm.nih.gov/38670107" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NS93-1", "protein_name": "Transmembrane 7 superfamily member 3", "gene_name": "TM7SF3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P28347-1", "protein_name": "Transcriptional enhancer factor TEF-1", "gene_name": "TEAD1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NS93", "url": "https://www.uniprot.org/uniprotkb/Q9NS93" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38670107", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "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 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"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": "Localization, genomic organization, and alternative transcription of a novel human SAM-dependent methyltransferase gene on chromosome 2p22-->p21.", "journal": "Cytogenet. Cell Genet.", "date": "2001", "authors": "Zhang Y, Gorry M C, Hart P S, Pettenati M J, Wang L, Marks J J, Lu X, Hart T C", "reference": { "type": "PubMed", "id": "12063391", "url": "https://pubmed.ncbi.nlm.nih.gov/12063391" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BTF0-1", "protein_name": "U6 snRNA (guanine-N(2))-methyltransferase THUMPD2", "gene_name": "THUMPD2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BTF0", "url": "https://www.uniprot.org/uniprotkb/Q9BTF0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12063391", "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": "Human TRMT112-Methyltransferase Network Consists of Seven Partners Interacting with a Common Co-Factor.", "journal": "Int. J. Mol. Sci.", "date": "2021", "authors": "Brumele B, Mutso M, Telanne L, Ounap K, Spunde K, Abroi A, Kurg R", "reference": { "type": "PubMed", "id": "34948388", "url": "https://pubmed.ncbi.nlm.nih.gov/34948388" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BTF0-1", "protein_name": "U6 snRNA (guanine-N(2))-methyltransferase THUMPD2", "gene_name": "THUMPD2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BV44-1", "protein_name": "tRNA (guanine(6)-N(2))-methyltransferase THUMP3", "gene_name": "THUMPD3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96BT7-1", "protein_name": "tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ALKBH8", "gene_name": "ALKBH8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UI30-1", "protein_name": "Multifunctional methyltransferase subunit TRM112-like protein", "gene_name": "TRMT112", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43709-1", "protein_name": "18S rRNA (guanine-N(7))-methyltransferase", "gene_name": "BUD23", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7Z4G4-1", "protein_name": "tRNA (guanine(10)-N(2))-methyltransferase TRMT11", "gene_name": "TRMT11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y5N5-1", "protein_name": "Methyltransferase HEMK2", "gene_name": "HEMK2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRN9-1", "protein_name": "rRNA N(6)-adenosine-methyltransferase METTL5", "gene_name": "METTL5", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BTF0", "url": "https://www.uniprot.org/uniprotkb/Q9BTF0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 107, "end_pos": 107, "sequence_org": "F", "sequence_mut": "A", "comment": "Abolishes interaction with BUD23, THUMPD2 and THUMPD3. Reduces interaction with TRMT11, N6AMT1, METTL5 and ALKBH8. Reduces expression of exogenous TRMT112.", "evidence": [ { "database": "UniProtKB", "id": "Q9UI30", "url": "https://www.uniprot.org/uniprotkb/Q9UI30" }, { "database": "PubMed", "id": "34948388", "url": "https://pubmed.ncbi.nlm.nih.gov/34948388" } ], "uniprot_canonical_ac": "Q9UI30-1" }, { "start_pos": 10, "end_pos": 10, "sequence_org": "S", "sequence_mut": "F", "comment": "Abolishes interaction with THUMPD2. Increases expression of exogenous TRMT112. No effect on interaction with N6AMT1, BUD23, METTL5, TRMT11, ALKBH8 and THUMPD3.", "evidence": [ { "database": "UniProtKB", "id": "Q9UI30", "url": "https://www.uniprot.org/uniprotkb/Q9UI30" }, { "database": "PubMed", "id": "34948388", "url": "https://pubmed.ncbi.nlm.nih.gov/34948388" } ], "uniprot_canonical_ac": "Q9UI30-1" }, { "start_pos": 113, "end_pos": 113, "sequence_org": "I", "sequence_mut": "F", "comment": "Abolishes interaction with THUMPD2 and THUMPD3. Reduces interaction with N6AMT1, BUD23, TRMT11 and ALKBH8. Reduces expression of exogenous TRMT112. Increases interaction with METTL5.", "evidence": [ { "database": "UniProtKB", "id": "Q9UI30", "url": "https://www.uniprot.org/uniprotkb/Q9UI30" }, { "database": "PubMed", "id": "34948388", "url": "https://pubmed.ncbi.nlm.nih.gov/34948388" } ], "uniprot_canonical_ac": "Q9UI30-1" }, { "start_pos": 45, "end_pos": 45, "sequence_org": "M", "sequence_mut": "A", "comment": "Abolishes interaction with METTL5 and THUMPD3. Reduces interaction with ALKBH8 and THUMPD2. No effect on interaction with N6AMT1, BUD23 and TRMT11. Reduces expression of exogenous TRMT112.", "evidence": [ { "database": "UniProtKB", "id": "Q9UI30", "url": "https://www.uniprot.org/uniprotkb/Q9UI30" }, { "database": "PubMed", "id": "34948388", "url": "https://pubmed.ncbi.nlm.nih.gov/34948388" } ], "uniprot_canonical_ac": "Q9UI30-1" }, { "start_pos": 48, "end_pos": 48, "sequence_org": "K", "sequence_mut": "A", "comment": "Abolishes interaction with THUMPD2 and THUMPD3. Reduces interaction with TRMT11, ALKBH8 and N6AMT1. No effect on interaction with BUD23 and METTL5. No effect on expression of exogenous TRMT112.", "evidence": [ { "database": "UniProtKB", "id": "Q9UI30", "url": "https://www.uniprot.org/uniprotkb/Q9UI30" }, { "database": "PubMed", "id": "34948388", "url": "https://pubmed.ncbi.nlm.nih.gov/34948388" } ], "uniprot_canonical_ac": "Q9UI30-1" }, { "start_pos": 50, "end_pos": 50, "sequence_org": "E", "sequence_mut": "A", "comment": "Increases interaction with METTL5. No effect on interaction with TRMT11, THUMPD2, THUMPD3, N6AMT1, BUD23 and ALKBH8. No effect on expression of exogenous TRMT112.", "evidence": [ { "database": "UniProtKB", "id": "Q9UI30", "url": "https://www.uniprot.org/uniprotkb/Q9UI30" }, { "database": "PubMed", "id": "34948388", "url": "https://pubmed.ncbi.nlm.nih.gov/34948388" } ], "uniprot_canonical_ac": "Q9UI30-1" }, { "start_pos": 5, "end_pos": 5, "sequence_org": "T", "sequence_mut": "A", "comment": "Abolishes interaction with N6AMT1, METTL5, TRMT11, THUMPD3 and THUMPD2. Reduces interaction with BUD23 and ALKBH8. Reduces expression of exogenous TRMT112.", "evidence": [ { "database": "UniProtKB", "id": "Q9UI30", "url": "https://www.uniprot.org/uniprotkb/Q9UI30" }, { "database": "PubMed", "id": "34948388", "url": "https://pubmed.ncbi.nlm.nih.gov/34948388" } ], "uniprot_canonical_ac": "Q9UI30-1" }, { "start_pos": 8, "end_pos": 8, "sequence_org": "L", "sequence_mut": "W", "comment": "Abolishes interaction with METTL5 and THUMPD3. Reduces interaction with ALKBH8, THUMPD2 and TRMT11. No effect on interaction with N6AMT1 and BUD23. No effect on expression of exogenous TRMT112.", "evidence": [ { "database": "UniProtKB", "id": "Q9UI30", "url": "https://www.uniprot.org/uniprotkb/Q9UI30" }, { "database": "PubMed", "id": "34948388", "url": "https://pubmed.ncbi.nlm.nih.gov/34948388" } ], "uniprot_canonical_ac": "Q9UI30-1" }, { "start_pos": 92, "end_pos": 92, "sequence_org": "E", "sequence_mut": "A", "comment": "Reduces interaction with THUMPD2, THUMPD3, ALKBH8, TRMT11, N6AMT1 and BUD23. Increases interaction with METTL5. Reduces expression of exogenous TRMT112.", "evidence": [ { "database": "UniProtKB", "id": "Q9UI30", "url": "https://www.uniprot.org/uniprotkb/Q9UI30" }, { "database": "PubMed", "id": "34948388", "url": "https://pubmed.ncbi.nlm.nih.gov/34948388" } ], "uniprot_canonical_ac": "Q9UI30-1" } ], "record_id": "pubmed.34948388", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 8 } ], "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", 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"o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "N 2-methylguanosine modifications on human tRNAs and snRNA U6 are important for cell proliferation, protein translation and pre-mRNA splicing.", "journal": "Nucleic acids research", "date": "2023-08-11", "authors": "Wang Can, Ulryck Nathalie, Herzel Lydia, Pythoud Nicolas, Kleiber Nicole, Gu\u00e9rineau Vincent, Jactel Vincent, Moritz Chlo\u00e9, Bohnsack Markus T, Carapito Christine, Touboul David, Bohnsack Katherine E, Graille Marc", "reference": { "type": "PubMed", "id": "37283053", "url": "https://pubmed.ncbi.nlm.nih.gov/37283053" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BTF0-1", "protein_name": "U6 snRNA (guanine-N(2))-methyltransferase THUMPD2", "gene_name": "THUMPD2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BV44-1", "protein_name": "tRNA (guanine(6)-N(2))-methyltransferase THUMP3", "gene_name": "THUMPD3", "tax_name": "Human" }, { "uniprot_canonical_ac": 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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": "THUMPD2 catalyzes the N2-methylation of U6 snRNA of the spliceosome catalytic center and regulates pre-mRNA splicing and retinal degeneration.", "journal": "Nucleic acids research", "date": "2024-04-12", "authors": "Yang Wen-Qing, Ge Jian-Yang, Zhang Xiaofeng, Zhu Wen-Yu, Lin Lin, Shi Yigong, Xu Beisi, Liu Ru-Juan", "reference": { "type": "PubMed", "id": "38165050", "url": "https://pubmed.ncbi.nlm.nih.gov/38165050" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BTF0-1", "protein_name": "U6 snRNA (guanine-N(2))-methyltransferase THUMPD2", "gene_name": "THUMPD2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BTF0", "url": "https://www.uniprot.org/uniprotkb/Q9BTF0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38165050", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", 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