[ { "title": "A sublethal ATP11A mutation associated with neurological deterioration causes aberrant phosphatidylcholine flipping in plasma membranes.", "journal": "The Journal of clinical investigation", "date": "2021", "authors": "Segawa K, Kikuchi A, Noji T, Sugiura Y, Hiraga K, Suzuki C, Haginoya K, Kobayashi Y, Matsunaga M, Ochiai Y, Yamada K, Nishimura T, Iwasawa S, Shoji W, Sugihara F, Nishino K, Kosako H, Ikawa M, Uchiyama Y, Suematsu M, Ishikita H, Kure S, Nagata S", "reference": { "type": "PubMed", "id": "34403372", "url": "https://pubmed.ncbi.nlm.nih.gov/34403372" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P98197-1", "protein_name": "Phospholipid-transporting ATPase IH", "gene_name": "Atp11a", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "P98196-1", "protein_name": "Phospholipid-transporting ATPase IH", "gene_name": "ATP11A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NTI2-4", "protein_name": "Phospholipid-transporting ATPase IB", "gene_name": "ATP8A2", "tax_name": "Human" } ], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P98197", "url": "https://www.uniprot.org/uniprotkb/P98197" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "mutagenesis": [ { "start_pos": 84, "end_pos": 84, "sequence_org": "Q", "sequence_mut": "E", "comment": "Mutant mice surviving beyond the perinatal period show a reduction in brain size, dilated lateral ventricles and neurologic deficits. 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Mol. Genet.", "date": "2023", "authors": "Chepurwar Shashank, von Loh Sarah M, Wigger Daniela C, Neef Jakob, Frommolt Peter, Beutner Dirk, Lang-Roth Ruth, Kubisch Christian, Strenzke Nicola, Volk Alexander E", "reference": { "type": "PubMed", "id": "36300302", "url": "https://pubmed.ncbi.nlm.nih.gov/36300302" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P98197-1", "protein_name": "Phospholipid-transporting ATPase IH", "gene_name": "Atp11a", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "P98196-1", "protein_name": "Phospholipid-transporting ATPase IH", "gene_name": "ATP11A", "tax_name": "Human" } ], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P98197", "url": "https://www.uniprot.org/uniprotkb/P98197" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "mutagenesis": [ { "start_pos": 186, "end_pos": 186, "sequence_org": "E", "sequence_mut": "Q", "comment": "Has no effect on endoplasmic reticulum to plasma membrane trafficking. 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"date": "2012", "authors": "Du A, McCracken KW, Walp ER, Terry NA, Klein TJ, Han A, Wells JM, May CL", "reference": { "type": "PubMed", "id": "22387004", "url": "https://pubmed.ncbi.nlm.nih.gov/22387004" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O35085-1", "protein_name": "Homeobox protein ARX", "gene_name": "Arx", "tax_name": "Mouse" } ], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35085", "url": "https://www.uniprot.org/uniprotkb/O35085" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "record_id": "pubmed.22387004", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": 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U.S.A.", "date": "1991", "authors": "Canfield VA, Levenson R", "reference": { "type": "PubMed", "id": "1654563", "url": "https://pubmed.ncbi.nlm.nih.gov/1654563" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P50992-1", "protein_name": "Potassium-transporting ATPase subunit beta", "gene_name": "Atp4b", "tax_name": "Mouse" } ], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P50992", "url": "https://www.uniprot.org/uniprotkb/P50992" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "record_id": "pubmed.1654563", "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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chromosome mapping of the mouse gene.", "journal": "Genomics", "date": "1995", "authors": "Sango K, Johnson ON, Kozak CA, Proia RL", "reference": { "type": "PubMed", "id": "7558008", "url": "https://pubmed.ncbi.nlm.nih.gov/7558008" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q09200-1", "protein_name": "Beta-1,4 N-acetylgalactosaminyltransferase 1", "gene_name": "B4galnt1", "tax_name": "Mouse" } ], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q09200", "url": "https://www.uniprot.org/uniprotkb/Q09200" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "record_id": "pubmed.7558008", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Mice with disrupted GM2/GD2 synthase gene lack complex gangliosides but exhibit only subtle defects in their nervous system.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Takamiya K, Yamamoto A, Furukawa K, Yamashiro S, Shin M, Okada M, Fukumoto S, Haraguchi M, Takeda N, Fujimura K, Sakae M, Kishikawa M, Shiku H, Furukawa K, Aizawa S", "reference": { "type": "PubMed", "id": "8855236", "url": "https://pubmed.ncbi.nlm.nih.gov/8855236" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q09200-1", "protein_name": "Beta-1,4 N-acetylgalactosaminyltransferase 1", "gene_name": "B4galnt1", "tax_name": "Mouse" } ], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q09200", "url": 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chemistry", "date": "1998", "authors": "Hennet T, Dinter A, Kuhnert P, Mattu TS, Rudd PM, Berger EG", "reference": { "type": "PubMed", "id": "9417047", "url": "https://pubmed.ncbi.nlm.nih.gov/9417047" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O54904-1", "protein_name": "Beta-1,3-galactosyltransferase 1", "gene_name": "B3galt1", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q920V1-1", "protein_name": "UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1", "gene_name": "B3galnt1", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "O54905-1", "protein_name": "Beta-1,3-galactosyltransferase 2", "gene_name": "B3galt2", "tax_name": "Mouse" } ], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O54904", "url": "https://www.uniprot.org/uniprotkb/O54904" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "record_id": "pubmed.9417047", "abstract": 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Protects against a Basal cGAS-STING Response.", "journal": "mBio", "date": "2020", "authors": "Ma H, Qian W, Bambouskova M, Collins PL, Porter SI, Byrum AK, Zhang R, Artyomov M, Oltz EM, Mosammaparast N, Miner JJ, Diamond MS", "reference": { "type": "PubMed", "id": "32156810", "url": "https://pubmed.ncbi.nlm.nih.gov/32156810" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O54962-1", "protein_name": "Barrier-to-autointegration factor", "gene_name": "Banf1", "tax_name": "Mouse" } ], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O54962", "url": "https://www.uniprot.org/uniprotkb/O54962" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "record_id": "pubmed.32156810", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { 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