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variation in MAB21L1 is dominantly associated with congenital eye defects.", "journal": "Journal of medical genetics", "date": "2022-11-29", "authors": "Meng Fanlei, Li Xin, Zhang Jinlu, Gao Zhiyang, Yang Xue, Liu Ziqi, Liu Yajie, Guo Tong, Wang Likun, Yang Liping, Wang Zhaohui", "reference": { "type": "PubMed", "id": "36446583", "url": "https://pubmed.ncbi.nlm.nih.gov/36446583" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13394-1", "protein_name": "Putative nucleotidyltransferase MAB21L1", "gene_name": "MAB21L1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13394", "url": "https://www.uniprot.org/uniprotkb/Q13394" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.36446583", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": 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"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": "Tetraspanin 8 is an interactor of the metalloprotease meprin \u03b2 within tetraspanin-enriched microdomains.", "journal": "Biological chemistry", "date": "2016-05-14", "authors": "Schmidt Frederike, M\u00fcller Miryam, Prox Johannes, Arnold Philipp, Sch\u00f6nherr Caroline, Tredup Claudia, Minder Petra, Ebsen Henriette, Janssen Ottmar, Annaert Wim, Pietrzik Claus, Schmidt-Arras Dirk, Sterchi Erwin E, Becker-Pauly Christoph", "reference": { "type": "PubMed", "id": "27180357", "url": "https://pubmed.ncbi.nlm.nih.gov/27180357" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q16820-1", "protein_name": "Meprin A subunit beta", "gene_name": "MEP1B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P19075-1", "protein_name": "Tetraspanin-8", "gene_name": "TSPAN8", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16820", "url": "https://www.uniprot.org/uniprotkb/Q16820" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 133, "end_pos": 133, "sequence_org": "E", "sequence_mut": "A", "comment": "No difference in TSPAN8-mediated MEP1B activity.", "evidence": [ { "database": "UniProtKB", "id": "P19075", "url": "https://www.uniprot.org/uniprotkb/P19075" }, { "database": "PubMed", "id": "27180357", 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"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": 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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": "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": "The cancer-associated meprin beta variant G32R provides an additional activation site and promotes cancer cell invasion.", "journal": "Journal of cell science", "date": "2019", "authors": "Schaffler H, Li W, Helm O, Kruger S, Boger C, Peters F, Rocken C, Sebens S, Lucius R, Becker-Pauly C, Arnold P", "reference": { "type": "PubMed", "id": "31076514", "url": "https://pubmed.ncbi.nlm.nih.gov/31076514" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q16820-1", "protein_name": "Meprin A subunit beta", "gene_name": "MEP1B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16820", "url": "https://www.uniprot.org/uniprotkb/Q16820" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.31076514", "abstract": "", "glycosylation": [], 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"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": "Phosphorylation of the amyloid precursor protein (APP) at Ser-675 promotes APP processing involving meprin beta.", "journal": "The Journal of biological chemistry", "date": "2019", "authors": "Menon PK, Koistinen NA, Iverfeldt K, Strom AL", "reference": { "type": "PubMed", "id": "31604820", "url": "https://pubmed.ncbi.nlm.nih.gov/31604820" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q16820-1", "protein_name": "Meprin A subunit beta", "gene_name": "MEP1B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16820", "url": "https://www.uniprot.org/uniprotkb/Q16820" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.31604820", "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": [ { 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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": "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": "Structure and Dynamics of Meprin beta in Complex with a Hydroxamate-Based Inhibitor.", "journal": "International journal of molecular sciences", "date": "2021", "authors": "Linnert M, Fritz C, Jager C, Schlenzig D, Ramsbeck D, Kleinschmidt M, Wermann M, Demuth HU, Parthier C, Schilling S", "reference": { "type": "PubMed", "id": "34073350", "url": "https://pubmed.ncbi.nlm.nih.gov/34073350" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q16820-1", "protein_name": "Meprin A subunit beta", "gene_name": "MEP1B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16820", "url": 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gene association studies reveal novel ethnicity-specific variants in MFSD3 and MRPL43 associated with dementia with Lewy bodies.", "journal": "American journal of medical genetics. 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Mol. 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