[ { "title": "Two novel mutations in DNAJC12 identified by whole-exome sequencing in a patient with mild hyperphenylalaninemia.", "journal": "Molecular genetics & genomic medicine", "date": "2020-08", "authors": "Li Mengting, Yang Qi, Yi Sheng, Qin Zailong, Luo Jingsi, Fan Xin", "reference": { "type": "PubMed", "id": "32519510", "url": "https://pubmed.ncbi.nlm.nih.gov/32519510" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UKB3-1", "protein_name": "DnaJ homolog subfamily C member 12", "gene_name": "DNAJC12", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UKB3", "url": "https://www.uniprot.org/uniprotkb/Q9UKB3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.32519510", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { 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Genet.", "date": "2005", "authors": "Bond J, Roberts E, Springell K, Lizarraga SB, Scott S, Higgins J, Hampshire DJ, Morrison EE, Leal GF, Silva EO, Costa SM, Baralle D, Raponi M, Karbani G, Rashid Y, Jafri H, Bennett C, Corry P, Walsh CA, Woods CG", "reference": { "type": "PubMed", "id": "15793586", "url": "https://pubmed.ncbi.nlm.nih.gov/15793586" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96SN8-1", "protein_name": "CDK5 regulatory subunit-associated protein 2", "gene_name": "CDK5RAP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HC77-1", "protein_name": "Centrosomal P4.1-associated protein", "gene_name": "CPAP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96SN8", "url": "https://www.uniprot.org/uniprotkb/Q96SN8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15793586", "abstract": 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"CD70-induced differentiation of proinflammatory Th1/17/22/GM lymphocytes associated with disease progression and immune reconstitution during HIV infection.", "journal": "Emerging microbes & infections", "date": "2023-12", "authors": "Wang Xinyue, Wei Yuqing, He Zhijiao, Wang Di, Zhang Leidan, Du Juan, Zhang Mengyuan, Jiang Meiqing, Chen Na, Deng Meiju, Li Bei, Song Chuan, Chen Danying, Liu Huan, Xiao Jiang, Liang Hongyuan, Zhao Hongxin, Kong Yaxian", "reference": { "type": "PubMed", "id": "37824079", "url": "https://pubmed.ncbi.nlm.nih.gov/37824079" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P32970-1", "protein_name": "CD70 antigen", "gene_name": "CD70", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32970", "url": "https://www.uniprot.org/uniprotkb/P32970" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], 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"authors": "van der Sluis Tetje C, van Haften Floortje J, van Duikeren Suzanne, Pardieck Iris N, de Graaf J Fr\u00e9derique, Vleeshouwers Ward, van der Maaden Koen, Melief Cornelis J M, van der Burg Sjoerd H, Arens Ramon", "reference": { "type": "PubMed", "id": "38030302", "url": "https://pubmed.ncbi.nlm.nih.gov/38030302" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P32970-1", "protein_name": "CD70 antigen", "gene_name": "CD70", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32970", "url": "https://www.uniprot.org/uniprotkb/P32970" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38030302", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } 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tandem repeats (VNTRs) identifies DOCK5 as a susceptibility gene for severe obesity.", "journal": "Human molecular genetics", "date": "2012", "authors": "El-Sayed Moustafa JS, Eleftherohorinou H, de Smith AJ, Andersson-Assarsson JC, Alves AC, Hadjigeorgiou E, Walters RG, Asher JE, Bottolo L, Buxton JL, Sladek R, Meyre D, Dina C, Visvikis-Siest S, Jacobson P, Sjostrom L, Carlsson LM, Walley A, Falchi M, Froguel P, Blakemore AI, Coin LJ", "reference": { "type": "PubMed", "id": "22595969", "url": "https://pubmed.ncbi.nlm.nih.gov/22595969" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H7D0-1", "protein_name": "Dedicator of cytokinesis protein 5", "gene_name": "DOCK5", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H7D0", "url": "https://www.uniprot.org/uniprotkb/Q9H7D0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], 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"Meng L, Zheng Y, Liu S, Ju Y, Ren S, Sang Y, Zhu Y, Gu L, Liu F, Zhao Y, Zhang X, Sang M", "reference": { "type": "PubMed", "id": "34216686", "url": "https://pubmed.ncbi.nlm.nih.gov/34216686" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H7D0-1", "protein_name": "Dedicator of cytokinesis protein 5", "gene_name": "DOCK5", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H7D0", "url": "https://www.uniprot.org/uniprotkb/Q9H7D0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.34216686", "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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chromosomal position of a novel gene encoding human ubiquitin-conjugating enzyme E2-230k.", "journal": "Gene", "date": "2001", "authors": "Yokota T, Nagai H, Harada H, Mine N, Terada Y, Fujiwara H, Yabe A, Miyazaki K, Emi M", "reference": { "type": "PubMed", "id": "11311559", "url": "https://pubmed.ncbi.nlm.nih.gov/11311559" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9C0C9-1", "protein_name": "(E3-independent) E2 ubiquitin-conjugating enzyme", "gene_name": "UBE2O", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9C0C9", "url": "https://www.uniprot.org/uniprotkb/Q9C0C9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11311559", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", 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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": "Mechanism of client selection by the protein quality-control factor UBE2O.", "journal": "Nature structural & molecular biology", "date": "2022", "authors": "Yip MCJ, Sedor SF, Shao S", "reference": { "type": "PubMed", "id": "35915257", "url": "https://pubmed.ncbi.nlm.nih.gov/35915257" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9C0C9-1", "protein_name": "(E3-independent) E2 ubiquitin-conjugating enzyme", "gene_name": "UBE2O", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9C0C9", "url": "https://www.uniprot.org/uniprotkb/Q9C0C9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.35915257", "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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"count": 0 } ], "sort_fields": [] } ] }, { "title": "Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern.", "journal": "The British journal of dermatology", "date": "2004", "authors": "Armstrong DK, Sharpe PC, Chambers CR, Whatley SD, Roberts AG, Elder GH", "reference": { "type": "PubMed", "id": "15491440", "url": "https://pubmed.ncbi.nlm.nih.gov/15491440" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P06132-1", "protein_name": "Uroporphyrinogen decarboxylase", "gene_name": "UROD", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06132", "url": "https://www.uniprot.org/uniprotkb/P06132" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15491440", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], 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"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 uroporphyrinogen III synthase: NMR-based mapping of the active site.", "journal": "Proteins", "date": "2008", "authors": "Cunha L, Kuti M, Bishop DF, Mezei M, Zeng L, Zhou MM, Desnick RJ", "reference": { "type": "PubMed", "id": "18004775", "url": "https://pubmed.ncbi.nlm.nih.gov/18004775" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P06132-1", "protein_name": "Uroporphyrinogen decarboxylase", "gene_name": "UROD", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10746-1", "protein_name": "Uroporphyrinogen-III synthase", "gene_name": "UROS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08397-1", "protein_name": "Porphobilinogen deaminase", "gene_name": "HMBS", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06132", "url": "https://www.uniprot.org/uniprotkb/P06132" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": 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"Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda.", "journal": "J. 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Invest.", "date": "1990", "authors": "Garey J R, Harrison L M, Franklin K F, Metcalf K M, Radisky E S, Kushner J P", "reference": { "type": "PubMed", "id": "2243121", "url": "https://pubmed.ncbi.nlm.nih.gov/2243121" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P06132-1", "protein_name": "Uroporphyrinogen decarboxylase", "gene_name": "UROD", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06132", "url": "https://www.uniprot.org/uniprotkb/P06132" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2243121", "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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[] } ] }, { "title": "Crystal structure of human uroporphyrinogen decarboxylase.", "journal": "EMBO J.", "date": "1998", "authors": "Whitby FG, Phillips JD, Kushner JP, Hill CP", "reference": { "type": "PubMed", "id": "9564029", "url": "https://pubmed.ncbi.nlm.nih.gov/9564029" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P06132-1", "protein_name": "Uroporphyrinogen decarboxylase", "gene_name": "UROD", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P06132", "url": "https://www.uniprot.org/uniprotkb/P06132" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9564029", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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"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": "Cerebral venous malformations have distinct genetic origin from cerebral cavernous malformations.", "journal": "Stroke", "date": "2005", "authors": "Guclu B, Ozturk AK, Pricola KL, Seker A, Ozek M, Gunel M", "reference": { "type": "PubMed", "id": "16239636", "url": "https://pubmed.ncbi.nlm.nih.gov/16239636" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BUL8-1", "protein_name": "Programmed cell death protein 10", "gene_name": "PDCD10", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUL8", "url": "https://www.uniprot.org/uniprotkb/Q9BUL8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16239636", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], 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