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"CLN3 protein regulates lysosomal pH and alters intracellular processing of Alzheimer's amyloid-beta protein precursor and cathepsin D in human cells.", "journal": "Molecular genetics and metabolism", "date": "2000", "authors": "Golabek AA, Kida E, Walus M, Kaczmarski W, Michalewski M, Wisniewski KE", "reference": { "type": "PubMed", "id": "10924275", "url": "https://pubmed.ncbi.nlm.nih.gov/10924275" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13286-1", "protein_name": "Battenin", "gene_name": "CLN3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13286", "url": "https://www.uniprot.org/uniprotkb/Q13286" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10924275", "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": 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"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": "Membrane topology of CLN3, the protein underlying Batten disease.", "journal": "FEBS letters", "date": "2003", "authors": "Mao Q, Foster BJ, Xia H, Davidson BL", "reference": { "type": "PubMed", "id": "12706816", "url": "https://pubmed.ncbi.nlm.nih.gov/12706816" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13286-1", "protein_name": "Battenin", "gene_name": "CLN3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13286", "url": "https://www.uniprot.org/uniprotkb/Q13286" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 310, "end_pos": 310, "sequence_org": "N", "sequence_mut": "Q", "comment": "Does not affect glycosylation.", "evidence": [ { "database": "UniProtKB", "id": "Q13286", "url": "https://www.uniprot.org/uniprotkb/Q13286" }, { "database": "PubMed", "id": "12706816", "url": "https://pubmed.ncbi.nlm.nih.gov/12706816" } ], "uniprot_canonical_ac": "Q13286-1" } ], "record_id": "pubmed.12706816", "abstract": "", "glycosylation": [], "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": "Intracellular trafficking of CLN3, the protein underlying the childhood neurodegenerative disease, Batten disease.", "journal": "FEBS Lett.", "date": "2003", "authors": "Mao Qinwen, Xia Haibin, Davidson Beverly L", "reference": { "type": "PubMed", "id": "14644441", "url": "https://pubmed.ncbi.nlm.nih.gov/14644441" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13286-1", "protein_name": "Battenin", "gene_name": "CLN3", "tax_name": "Human" } ], "species": [ { "name": "Homo 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"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": "Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells.", "journal": "Molecular biology of the cell", "date": "2004", "authors": "Kyttala A, Ihrke G, Vesa J, Schell MJ, Luzio JP", "reference": { "type": "PubMed", "id": "14699076", "url": "https://pubmed.ncbi.nlm.nih.gov/14699076" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13286-1", "protein_name": "Battenin", "gene_name": "CLN3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13286", "url": "https://www.uniprot.org/uniprotkb/Q13286" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 242, "end_pos": 244, "sequence_org": "EEE", "sequence_mut": "AAA", "comment": "Loss of lysosomal targeting; when associated with A-409 and A-419. Loss of lysosomal localization; when associated with A-246.", "evidence": [ { "database": "UniProtKB", "id": "Q13286", "url": "https://www.uniprot.org/uniprotkb/Q13286" }, { "database": "PubMed", "id": "15469932", "url": "https://pubmed.ncbi.nlm.nih.gov/15469932" }, { "database": "PubMed", "id": "14699076", "url": "https://pubmed.ncbi.nlm.nih.gov/14699076" } ], "uniprot_canonical_ac": "Q13286-1" }, { "start_pos": 253, "end_pos": 253, "sequence_org": "L", "sequence_mut": "A", "comment": "Loss of lysosomal targeting; when associated with A-254. Does not affect interaction with CLN5; when associated with A-254. Does not affect interaction with CLN5; when associated with A-254; A-409 and A-419. Loss of lysosomal targeting; when associated with A-254; A-409 and A-409.", "evidence": [ { "database": "UniProtKB", "id": "Q13286", "url": "https://www.uniprot.org/uniprotkb/Q13286" }, { "database": "PubMed", "id": "14699076", "url": "https://pubmed.ncbi.nlm.nih.gov/14699076" } ], "uniprot_canonical_ac": "Q13286-1" }, { "start_pos": 254, "end_pos": 254, "sequence_org": "I", "sequence_mut": "A", "comment": "Loss of lysosomal targeting. Does not affect interaction with CLN5; when associated with A-253. Does not affect interaction with CLN5; when associated with A-253; A-409 and A-419. Loss of lysosomal targeting; when associated with A-253; A-409 and A-409.", "evidence": [ { "database": "UniProtKB", "id": "Q13286", "url": "https://www.uniprot.org/uniprotkb/Q13286" }, { "database": "PubMed", "id": "14699076", "url": "https://pubmed.ncbi.nlm.nih.gov/14699076" } ], "uniprot_canonical_ac": "Q13286-1" }, { "start_pos": 409, "end_pos": 409, "sequence_org": "M", "sequence_mut": "A", "comment": "Does not affect lysosomal targeting; when associated with A-419. Loss of lysosomal targeting; when associated with A-253 and A-254. Loss of lysosomal targeting; when associated with 242-A--A-244 and A-419. Does not affect interaction with CLN5; when associated with A-419. Does not affect interaction with CLN5; when associated with A-253; A-254 and A-419. Loss of lysosomal targeting; when associated with A-253; A-254 and A-419. Loss of lysosomal localization in AP3D1 or AP1G1 deficient cells; when associated with A-419.", "evidence": [ { "database": "UniProtKB", "id": "Q13286", "url": "https://www.uniprot.org/uniprotkb/Q13286" }, { "database": "PubMed", "id": "14699076", "url": "https://pubmed.ncbi.nlm.nih.gov/14699076" }, { "database": "PubMed", "id": "15598649", "url": "https://pubmed.ncbi.nlm.nih.gov/15598649" } ], "uniprot_canonical_ac": "Q13286-1" }, { "start_pos": 419, "end_pos": 419, "sequence_org": "G", "sequence_mut": "A", "comment": "Does not affect lysosomal targeting; when associated with A-409. Loss of lysosomal targeting; when associated with A-253 and A-254. Loss of lysosomal targeting; when associated with 242-A--A-244 and A-409. Does not affect interaction with CLN5; when associated with A-409. Does not affect interaction with CLN5; when associated with A-253; A-254 and A-409. Loss of lysosomal targeting; when associated with A-253; A-254 and A-409. 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Res.", "date": "2004", "authors": "Persaud-Sawin Dixie-Ann, McNamara James O, Rylova Svetlana, Vandongen Antonius, Boustany Rose-Mary N", "reference": { "type": "PubMed", "id": "15240864", "url": "https://pubmed.ncbi.nlm.nih.gov/15240864" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13286-1", "protein_name": "Battenin", "gene_name": "CLN3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13286", "url": "https://www.uniprot.org/uniprotkb/Q13286" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15240864", "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": "A dileucine motif and a cluster of acidic amino acids in the second cytoplasmic domain of the batten disease-related CLN3 protein are required for efficient lysosomal targeting.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Storch S, Pohl S, Braulke T", "reference": { "type": "PubMed", "id": "15469932", "url": "https://pubmed.ncbi.nlm.nih.gov/15469932" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13286-1", "protein_name": "Battenin", "gene_name": "CLN3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13286", "url": "https://www.uniprot.org/uniprotkb/Q13286" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 242, "end_pos": 244, "sequence_org": "EEE", "sequence_mut": "AAA", "comment": "Loss of lysosomal targeting; when associated with A-409 and A-419. Loss of lysosomal localization; when associated with A-246.", "evidence": [ { "database": "UniProtKB", "id": "Q13286", "url": "https://www.uniprot.org/uniprotkb/Q13286" }, { "database": "PubMed", "id": "15469932", "url": "https://pubmed.ncbi.nlm.nih.gov/15469932" }, { "database": "PubMed", "id": "14699076", "url": "https://pubmed.ncbi.nlm.nih.gov/14699076" } ], "uniprot_canonical_ac": "Q13286-1" }, { "start_pos": 246, "end_pos": 246, "sequence_org": "E", "sequence_mut": "A", "comment": "Loss of lysosomal localization; when associated with 242-A--A-244.", "evidence": [ { "database": "UniProtKB", "id": "Q13286", "url": "https://www.uniprot.org/uniprotkb/Q13286" }, { "database": "PubMed", "id": "15469932", "url": "https://pubmed.ncbi.nlm.nih.gov/15469932" } ], "uniprot_canonical_ac": "Q13286-1" }, { "start_pos": 253, "end_pos": 254, "sequence_org": "LI", "sequence_mut": "AA", "comment": "Does not affect lysosomal localization in AP3D1 or AP2A2 or AP1G1 deficient cells. 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway.", "journal": "Human molecular genetics", "date": "2004", "authors": "Luiro K, Yliannala K, Ahtiainen L, Maunu H, Jarvela I, Kyttala A, Jalanko A", "reference": { "type": "PubMed", "id": "15471887", "url": "https://pubmed.ncbi.nlm.nih.gov/15471887" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13286-1", "protein_name": "Battenin", "gene_name": "CLN3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UJC3-1", "protein_name": "Protein Hook homolog 1", "gene_name": "HOOK1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13286", "url": "https://www.uniprot.org/uniprotkb/Q13286" } ], "common_name": "Human", "glygen_name": 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Genet.", "date": "2007", "authors": "Chang Jae-Woong, Choi Hyunwoo, Kim Hyun-Ji, Jo Dong-Gyu, Jeon Young-Jun, Noh Jee-Yeon, Park Woo Jin, Jung Yong-Keun", "reference": { "type": "PubMed", "id": "17189291", "url": "https://pubmed.ncbi.nlm.nih.gov/17189291" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13286-1", "protein_name": "Battenin", "gene_name": "CLN3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q61124-1", "protein_name": "Battenin", "gene_name": "Cln3", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13286", "url": "https://www.uniprot.org/uniprotkb/Q13286" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.17189291", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", 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Dermatol.", "date": "2000", "authors": "Enerback C, Enlund F, Inerot A, Samuelsson L, Wahlstrom J, Swanbeck G, Martinsson T", "reference": { "type": "PubMed", "id": "10844560", "url": "https://pubmed.ncbi.nlm.nih.gov/10844560" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q15517-1", "protein_name": "Corneodesmosin", "gene_name": "CDSN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15517", "url": "https://www.uniprot.org/uniprotkb/Q15517" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10844560", "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" ] }, { 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Med.", "date": "1997", "authors": "Patel VP, Kreider BL, Li Y, Li H, Leung K, Salcedo T, Nardelli B, Pippalla V, Gentz S, Thotakura R, Parmelee D, Gentz R, Garotta G", "reference": { "type": "PubMed", "id": "9104803", "url": "https://pubmed.ncbi.nlm.nih.gov/9104803" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P55773-1", "protein_name": "C-C motif chemokine 23", "gene_name": "CCL23", "tax_name": "Human" }, { "uniprot_canonical_ac": "O00175-1", "protein_name": "C-C motif chemokine 24", "gene_name": "CCL24", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P55773", "url": "https://www.uniprot.org/uniprotkb/P55773" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9104803", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { 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