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"MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:0050475", "recommended_name": { "id": "DOID:0050475", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050475", "name": "Weill-Marchesani syndrome", "description": "A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities." }, "synonyms": [ { "id": "DOID:0050475", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050475", "name": "GEMSS syndrome", "description": "" }, { "id": "DOID:0050475", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050475", "name": "Marchesani-Weill Syndrome", "description": "" }, { "id": "DOID:0050475", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050475", "name": "Mesodermal Dysmorphodystrophy, Congenital", "description": "" }, { "id": "DOID:0050475", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050475", "name": "Spherophakia Brachymorphia Syndrome", "description": "" }, { "id": "DOID:0050475", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050475", "name": "congenital mesodermal dystrophy", "description": "" }, { "id": "MONDO:0010194", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010194", "name": "Weill-Marchesani syndrome 1", "description": "Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene." }, { "id": "MONDO:0010194", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010194", "name": "ADAMTS10 Weill-Marchesani syndrome", "description": "" }, { "id": "MONDO:0010194", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010194", "name": "Weill-Marchesani syndrome 1", "description": "" }, { "id": "MONDO:0010194", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010194", "name": "Weill-Marchesani syndrome 1, recessive", "description": "" }, { "id": "MONDO:0010194", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010194", "name": "Weill-Marchesani syndrome caused by mutation in ADAMTS10", "description": "" }, { "id": "MONDO:0010194", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010194", "name": "Weill-Marchesani syndrome type 1", "description": "" }, { "id": "MONDO:0010194", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010194", "name": "WMS1", "description": "" }, { "id": "MIM:277600", "resource": "MIM", "url": "https://www.omim.org/entry/277600", "name": "Weill-Marchesani syndrome 1", "description": "Weill-Marchesani syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050475" }, { "id": "0050475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050475" } ] }, { "disease_id": "DOID:0061273", "recommended_name": { "id": "DOID:0061273", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0061273", "name": "Weill-Marchesani syndrome 1", "description": "A Weill-Marchesani syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTS10 gene on chromosome 19p13." }, "synonyms": [ { "id": "MONDO:0010194", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010194", "name": "Weill-Marchesani syndrome 1", "description": "Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene." }, { "id": "MONDO:0010194", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010194", "name": "ADAMTS10 Weill-Marchesani syndrome", "description": "" }, { "id": "MONDO:0010194", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010194", "name": "Weill-Marchesani syndrome 1", "description": "" }, { "id": "MONDO:0010194", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010194", "name": "Weill-Marchesani syndrome 1, recessive", "description": "" }, { "id": "MONDO:0010194", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010194", "name": "Weill-Marchesani syndrome caused by mutation in ADAMTS10", "description": "" }, { "id": "MONDO:0010194", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010194", "name": "Weill-Marchesani syndrome type 1", "description": "" }, { "id": "MONDO:0010194", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010194", "name": "WMS1", "description": "" }, { "id": "MIM:277600", "resource": "MIM", "url": "https://www.omim.org/entry/277600", "name": "Weill-Marchesani syndrome 1", "description": "Weill-Marchesani syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "277600", "database": "MIM", "url": "https://www.omim.org/entry/277600" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "100000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "Q9H324-1" }, { "evidence": [ { "id": "Q9H324", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H324" }, { "id": "rs121434359", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121434359" }, { "id": "rs121434359", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121434359" }, { "id": "18567016", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18567016" }, { "id": "rs121434359", "database": "COSMIC", "url": 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"https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": 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}, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": 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U.S.A.", "date": "2025", "authors": "Wang J., Yin Y., Bai X.C., Choi J.H., Zhong X., Beutler B., Moresco E.M.Y., Lyon S., Peddada N., Lazaro D.R.", "reference": { "type": "PubMed", "id": "40339123", "url": "https://pubmed.ncbi.nlm.nih.gov/40339123" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P62333-1", "protein_name": "26S proteasome regulatory subunit 10B", "gene_name": "PSMC6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P62333", "url": "https://www.uniprot.org/uniprotkb/P62333" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.40339123", "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": "Identification, purification, and characterization of a PA700-dependent activator of the proteasome.", "journal": "J. 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Chem.", "date": "1996", "authors": "DeMartino G N, Proske R J, Moomaw C R, Strong A A, Song X, Hisamatsu H, Tanaka K, Slaughter C A", "reference": { "type": "PubMed", "id": "8621709", "url": "https://pubmed.ncbi.nlm.nih.gov/8621709" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P62333-1", "protein_name": "26S proteasome regulatory subunit 10B", "gene_name": "PSMC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P17980-1", "protein_name": "26S proteasome regulatory subunit 6A", "gene_name": "PSMC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q3SZ19-1", "protein_name": "26S proteasome non-ATPase regulatory subunit 9", "gene_name": "PSMD9", "tax_name": "Bovine" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P62333", "url": "https://www.uniprot.org/uniprotkb/P62333" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": 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Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein.", "journal": "Biochim. Biophys. 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis.", "journal": "The Biochemical journal", "date": "2000", "authors": "Zhang S, Bagshaw R, Hilson W, Oho Y, Hinek A, Clarke JT, Callahan JW", "reference": { "type": "PubMed", "id": "10839995", "url": "https://pubmed.ncbi.nlm.nih.gov/10839995" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P16278-1", "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P16278", "url": "https://www.uniprot.org/uniprotkb/P16278" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10839995", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], 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"Georgiou T, Drousiotou A, Campos Y, Caciotti A, Sztriha L, Gururaj A, Ozand P, Zammarchi E, Morrone A, D'Azzo A", "reference": { "type": "PubMed", "id": "15365997", "url": "https://pubmed.ncbi.nlm.nih.gov/15365997" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P16278-1", "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P16278", "url": "https://www.uniprot.org/uniprotkb/P16278" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15365997", "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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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0080501", "recommended_name": { "id": "DOID:0080501", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080501", "name": "GM1 gangliosidosis type 2", "description": "A GM1 gangliosidosis that is characterized by slowly progressive generalized neurodegeneration and mild 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"https://monarchinitiative.org/disease/MONDO:0009261", "name": "gangliosidosis, generalised GM1, late-infantile type", "description": "" }, { "id": "MONDO:0009261", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009261", "name": "gangliosidosis, generalised GM1, type 2", "description": "" }, { "id": "MIM:230600", "resource": "MIM", "url": "https://www.omim.org/entry/230600", "name": "GM1-gangliosidosis 2", "description": "GM1-gangliosidosis 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009261", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009261" }, { "id": "230600", "database": "MIM", "url": "https://www.omim.org/entry/230600" }, { "id": "2720", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/2720#disease" }, { "id": "0080501", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080501" } ] }, { "disease_id": "DOID:0080489", "recommended_name": { "id": "DOID:0080489", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080489", "name": "GM1 gangliosidosis type 3", "description": "A GM1 gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and with age at onset ranges from 3 to 30 years." }, "synonyms": [ { "id": "DOID:0080489", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080489", "name": "adult-onset GM1 gangliosidosis", "description": "" }, { "id": "MONDO:0009262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009262", "name": "GM1 gangliosidosis type 3", "description": "GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." }, { "id": "MONDO:0009262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009262", "name": "adult-onset GM1 gangliosidosis", "description": "" }, { "id": "MONDO:0009262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009262", "name": "Beta-galactosidase deficiency type 3", "description": "" }, { "id": "MONDO:0009262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009262", "name": "adult GM1 gangliosidosis", "description": "" }, { "id": "MONDO:0009262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009262", "name": "gangliosidosis GM1 type 3", "description": "" }, { "id": "MONDO:0009262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009262", "name": "gangliosidosis generalised GM1 chronic type", "description": "" }, { "id": "MONDO:0009262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009262", "name": "gangliosidosis generalized GM1 chronic type", "description": "" }, { "id": "MONDO:0009262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009262", "name": "gangliosidosis, generalised GM1, adult type", "description": "" }, { "id": "MONDO:0009262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009262", "name": "gangliosidosis, generalised GM1, chronic type", "description": "" }, { "id": "MONDO:0009262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009262", "name": "gangliosidosis, generalised GM1, type 3", "description": "" }, { "id": "MIM:230650", "resource": "MIM", "url": "https://www.omim.org/entry/230650", "name": "GM1-gangliosidosis 3", "description": "GM1-gangliosidosis 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009262", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009262" }, { "id": "230650", "database": "MIM", "url": "https://www.omim.org/entry/230650" }, { "id": "2720", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/2720#disease" }, { "id": "0080489", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080489" } ] }, { "disease_id": "DOID:0080502", "recommended_name": { "id": "DOID:0080502", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080502", "name": "GM1 gangliosidosis type 1", "description": "A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death." }, "synonyms": [ { "id": "MONDO:0009260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009260", "name": "GM1 gangliosidosis type 1", "description": "GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations." }, { "id": "MONDO:0009260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009260", "name": "Norman-Landing 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"https://monarchinitiative.org/disease/MONDO:0009260", "name": "gangliosidosis generalized GM1 infantile form", "description": "" }, { "id": "MONDO:0009260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009260", "name": "gangliosidosis generalized GM1 type 1", "description": "" }, { "id": "MONDO:0009260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009260", "name": "gangliosidosis, generalised GM1, infantile form", "description": "" }, { "id": "MONDO:0009260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009260", "name": "gangliosidosis, generalised GM1, type 1", "description": "" }, { "id": "MONDO:0009260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009260", "name": "gangliosidosis, generalised GM1, type I, with Cardiac involvement", "description": "" }, { "id": "MIM:230500", "resource": "MIM", "url": "https://www.omim.org/entry/230500", "name": "GM1-gangliosidosis 1", "description": "GM1-gangliosidosis 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009260", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009260" }, { "id": "230500", "database": "MIM", "url": "https://www.omim.org/entry/230500" }, { "id": "2720", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/2720#disease" }, { "id": "0080502", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080502" } ] }, { "disease_id": "DOID:0111392", "recommended_name": { "id": "DOID:0111392", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111392", "name": "mucopolysaccharidosis type IVB", "description": "A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in the GLB1 gene on chromosome 3p22.3." }, "synonyms": [ { "id": "DOID:0111392", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111392", "name": "MPS IVB", "description": "" }, { "id": "DOID:0111392", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111392", "name": "MPS4B", "description": "" }, { "id": "DOID:0111392", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111392", "name": "Morquio disease type B", "description": "" }, { "id": "DOID:0111392", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111392", "name": "Morquio syndrome B", "description": "" }, { "id": "DOID:0111392", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111392", "name": "beta-D-galactosidase deficiency", "description": "" }, { "id": "DOID:0111392", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111392", "name": "mucopolysaccharidosis type IVB (Morquio)", "description": "" }, { "id": "MONDO:0009660", "resource": 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with slowly progressive GM1 gangliosidosis.", "journal": "Journal of child neurology", "date": "1997", "authors": "Kaye EM, Shalish C, Livermore J, Taylor HA, Stevenson RE, Breakefield XO", "reference": { "type": "PubMed", "id": "9203065", "url": "https://pubmed.ncbi.nlm.nih.gov/9203065" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P16278-1", "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P16278", "url": "https://www.uniprot.org/uniprotkb/P16278" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9203065", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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Biol. Chem.", "date": "1998", "authors": "Privitera S, Prody C A, Callahan J W, Hinek A", "reference": { "type": "PubMed", "id": "9497360", "url": "https://pubmed.ncbi.nlm.nih.gov/9497360" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P16278-1", "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P16278", "url": "https://www.uniprot.org/uniprotkb/P16278" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9497360", "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": "Three proteins define a class of human histone deacetylases related to yeast Hda1p.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1999", "authors": "Grozinger C M, Hassig C A, Schreiber S L", "reference": { "type": "PubMed", "id": "10220385", "url": "https://pubmed.ncbi.nlm.nih.gov/10220385" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UBN7-1", "protein_name": "Protein deacetylase HDAC6", "gene_name": "HDAC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UQL6-1", "protein_name": "Histone deacetylase 5", "gene_name": "HDAC5", "tax_name": "Human" }, { "uniprot_canonical_ac": "P56524-1", "protein_name": "Histone deacetylase 4", "gene_name": "HDAC4", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBN7", "url": "https://www.uniprot.org/uniprotkb/Q9UBN7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10220385", "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": "Cloning and functional characterization of HDAC11, a novel member of the human histone deacetylase family.", "journal": "J. 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Chem.", "date": "2002", "authors": "Gao L, Cueto MA, Asselbergs F, Atadja P", "reference": { "type": "PubMed", "id": "11948178", "url": "https://pubmed.ncbi.nlm.nih.gov/11948178" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UBN7-1", "protein_name": "Protein deacetylase HDAC6", "gene_name": "HDAC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96DB2-1", "protein_name": "Histone deacetylase 11", "gene_name": "HDAC11", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBN7", "url": "https://www.uniprot.org/uniprotkb/Q9UBN7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11948178", "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 }, { "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": "Histone deacetylase 6 binds polyubiquitin through its zinc finger (PAZ domain) and copurifies with deubiquitinating enzymes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Hook SS, Orian A, Cowley SM, Eisenman RN", "reference": { "type": "PubMed", "id": "12354939", "url": "https://pubmed.ncbi.nlm.nih.gov/12354939" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UBN7-1", "protein_name": "Protein deacetylase HDAC6", "gene_name": "HDAC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UQL6-1", "protein_name": "Histone deacetylase 5", "gene_name": "HDAC5", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBN7", "url": "https://www.uniprot.org/uniprotkb/Q9UBN7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 216, "end_pos": 216, "sequence_org": "H", "sequence_mut": "A", "comment": "Reduces histone deacetylase activity. 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Abolishes HDAC6-mediated deacetylation of alpha-tubulin; when associated with A-216.", "evidence": [ { "database": "UniProtKB", "id": "Q9UBN7", "url": "https://www.uniprot.org/uniprotkb/Q9UBN7" }, { "database": "PubMed", "id": "12354939", "url": "https://pubmed.ncbi.nlm.nih.gov/12354939" }, { "database": "PubMed", "id": "26246421", "url": "https://pubmed.ncbi.nlm.nih.gov/26246421" }, { "database": "PubMed", "id": "38534334", "url": "https://pubmed.ncbi.nlm.nih.gov/38534334" } ], "uniprot_canonical_ac": "Q9UBN7-1" } ], "record_id": "pubmed.12354939", "abstract": "", "glycosylation": [], "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 }, { "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 human Sir2 ortholog, SIRT2, is an NAD+-dependent tubulin deacetylase.", "journal": "Mol. 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Inhibits the block of entry to chromosome condensation and subsequent hyperploidy cell formation in response to mitotic stress; when associated with A-167 and A-187.", "evidence": [ { "database": "UniProtKB", "id": "Q8IXJ6", "url": "https://www.uniprot.org/uniprotkb/Q8IXJ6" }, { "database": "PubMed", "id": "23908241", "url": "https://pubmed.ncbi.nlm.nih.gov/23908241" }, { "database": "PubMed", "id": "11427894", "url": "https://pubmed.ncbi.nlm.nih.gov/11427894" }, { "database": "PubMed", "id": "24769394", "url": "https://pubmed.ncbi.nlm.nih.gov/24769394" }, { "database": "PubMed", "id": "16909107", "url": "https://pubmed.ncbi.nlm.nih.gov/16909107" }, { "database": "PubMed", "id": "12620231", "url": "https://pubmed.ncbi.nlm.nih.gov/12620231" } ], "uniprot_canonical_ac": "Q8IXJ6-1" }, { "start_pos": 187, "end_pos": 187, "sequence_org": "H", "sequence_mut": "A", "comment": "Inhibits deacetylase activity toward histone, alpha-tubulin, FZR1 and CDC20. No effect on CDK2-dependent phosphorylation. Does not inhibit interaction with alpha-tubulin, HDAC6, HIF1A and the cyclin E-CDK2 complex. Inhibits interaction with BEX4 and KMT5A. Abolishes deacetylation, dimeric formation and enzymatic activity increase of G6PD. Prevents histone H4 methylation at 'Lys-20'(H4K20me1) in metaphase chromosomes. Inhibits the block of entry to chromosome condensation and subsequent hyperploidy cell formation in response to mitotic stress; when associated with A-167 and A-168. 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No effect on CDK2-dependent phosphorylation. Does not inhibit interaction with alpha-tubulin, HDAC6, HIF1A and the cyclin E-CDK2 complex. Inhibits interaction with BEX4 and KMT5A. Abolishes deacetylation, dimeric formation and enzymatic activity increase of G6PD. Prevents histone H4 methylation at 'Lys-20'(H4K20me1) in metaphase chromosomes. Inhibits the block of entry to chromosome condensation and subsequent hyperploidy cell formation in response to mitotic stress; when associated with A-167 and A-168. Strongly reduced activity toward long-chain fatty acyl groups.", "evidence": [ { "database": "UniProtKB", "id": "Q8IXJ6", "url": "https://www.uniprot.org/uniprotkb/Q8IXJ6" }, { "database": "PubMed", "id": "24681946", "url": "https://pubmed.ncbi.nlm.nih.gov/24681946" }, { "database": "PubMed", "id": "17516032", "url": "https://pubmed.ncbi.nlm.nih.gov/17516032" }, { "database": "PubMed", "id": "10381378", "url": "https://pubmed.ncbi.nlm.nih.gov/10381378" }, { "database": "PubMed", "id": "17726514", "url": "https://pubmed.ncbi.nlm.nih.gov/17726514" }, { "database": "PubMed", "id": "22014574", "url": "https://pubmed.ncbi.nlm.nih.gov/22014574" }, { "database": "PubMed", "id": "11427894", "url": "https://pubmed.ncbi.nlm.nih.gov/11427894" }, { "database": "PubMed", "id": "16909107", "url": "https://pubmed.ncbi.nlm.nih.gov/16909107" }, { "database": "PubMed", "id": "27512957", "url": "https://pubmed.ncbi.nlm.nih.gov/27512957" }, { "database": "PubMed", "id": "12620231", "url": "https://pubmed.ncbi.nlm.nih.gov/12620231" }, { "database": "PubMed", "id": "29239724", "url": "https://pubmed.ncbi.nlm.nih.gov/29239724" }, { "database": "PubMed", "id": "11812793", "url": "https://pubmed.ncbi.nlm.nih.gov/11812793" }, { "database": "PubMed", "id": "17488717", "url": "https://pubmed.ncbi.nlm.nih.gov/17488717" }, { "database": "PubMed", "id": "12697818", "url": "https://pubmed.ncbi.nlm.nih.gov/12697818" } ], "uniprot_canonical_ac": "Q8IXJ6-1" } ], "record_id": "pubmed.12620231", "abstract": "", "glycosylation": [], "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 }, { "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": "Mutations in SIRT2 deacetylase which regulate enzymatic activity but not its interaction with HDAC6 and tubulin.", "journal": "Mol. Cell. Biochem.", "date": "2007", "authors": "Nahhas F, Dryden SC, Abrams J, Tainsky MA", "reference": { "type": "PubMed", "id": "17516032", "url": "https://pubmed.ncbi.nlm.nih.gov/17516032" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UBN7-1", "protein_name": "Protein deacetylase HDAC6", "gene_name": "HDAC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IXJ6-1", "protein_name": "NAD-dependent protein deacetylase sirtuin-2", "gene_name": "SIRT2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBN7", "url": "https://www.uniprot.org/uniprotkb/Q9UBN7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 100, "end_pos": 100, "sequence_org": "S", "sequence_mut": "A", "comment": "Reduces deacetylase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8IXJ6", "url": "https://www.uniprot.org/uniprotkb/Q8IXJ6" }, { "database": "PubMed", "id": "17516032", "url": "https://pubmed.ncbi.nlm.nih.gov/17516032" } ], "uniprot_canonical_ac": "Q8IXJ6-1" }, { "start_pos": 187, "end_pos": 187, "sequence_org": "H", "sequence_mut": "A", "comment": "Inhibits deacetylase activity toward histone, alpha-tubulin, FZR1 and CDC20. No effect on CDK2-dependent phosphorylation. Does not inhibit interaction with alpha-tubulin, HDAC6, HIF1A and the cyclin E-CDK2 complex. Inhibits interaction with BEX4 and KMT5A. Abolishes deacetylation, dimeric formation and enzymatic activity increase of G6PD. Prevents histone H4 methylation at 'Lys-20'(H4K20me1) in metaphase chromosomes. Inhibits the block of entry to chromosome condensation and subsequent hyperploidy cell formation in response to mitotic stress; when associated with A-167 and A-168. Strongly reduced activity toward long-chain fatty acyl groups.", "evidence": [ { "database": "UniProtKB", "id": "Q8IXJ6", "url": "https://www.uniprot.org/uniprotkb/Q8IXJ6" }, { "database": "PubMed", "id": "24681946", "url": "https://pubmed.ncbi.nlm.nih.gov/24681946" }, { "database": "PubMed", "id": "17516032", "url": "https://pubmed.ncbi.nlm.nih.gov/17516032" }, { "database": "PubMed", "id": "10381378", "url": "https://pubmed.ncbi.nlm.nih.gov/10381378" }, { "database": "PubMed", "id": "17726514", "url": "https://pubmed.ncbi.nlm.nih.gov/17726514" }, { "database": "PubMed", "id": "22014574", "url": "https://pubmed.ncbi.nlm.nih.gov/22014574" }, { "database": "PubMed", "id": "11427894", "url": "https://pubmed.ncbi.nlm.nih.gov/11427894" }, { "database": "PubMed", "id": "16909107", "url": "https://pubmed.ncbi.nlm.nih.gov/16909107" }, { "database": "PubMed", "id": "27512957", "url": "https://pubmed.ncbi.nlm.nih.gov/27512957" }, { "database": "PubMed", "id": "12620231", "url": "https://pubmed.ncbi.nlm.nih.gov/12620231" }, { "database": "PubMed", "id": "29239724", "url": "https://pubmed.ncbi.nlm.nih.gov/29239724" }, { "database": "PubMed", "id": "11812793", "url": "https://pubmed.ncbi.nlm.nih.gov/11812793" }, { "database": "PubMed", "id": "17488717", "url": "https://pubmed.ncbi.nlm.nih.gov/17488717" }, { "database": "PubMed", "id": "12697818", "url": "https://pubmed.ncbi.nlm.nih.gov/12697818" } ], "uniprot_canonical_ac": "Q8IXJ6-1" }, { "start_pos": 187, "end_pos": 187, "sequence_org": "H", "sequence_mut": "Y", "comment": "Inhibits deacetylase activity toward histone, alpha-tubulin, FZR1 and CDC20. No effect on CDK2-dependent phosphorylation. Does not inhibit interaction with alpha-tubulin, HDAC6, HIF1A and the cyclin E-CDK2 complex. Inhibits interaction with BEX4 and KMT5A. Abolishes deacetylation, dimeric formation and enzymatic activity increase of G6PD. Prevents histone H4 methylation at 'Lys-20'(H4K20me1) in metaphase chromosomes. Inhibits the block of entry to chromosome condensation and subsequent hyperploidy cell formation in response to mitotic stress; when associated with A-167 and A-168. Strongly reduced activity toward long-chain fatty acyl groups.", "evidence": [ { "database": "UniProtKB", "id": "Q8IXJ6", "url": "https://www.uniprot.org/uniprotkb/Q8IXJ6" }, { "database": "PubMed", "id": "24681946", "url": "https://pubmed.ncbi.nlm.nih.gov/24681946" }, { "database": "PubMed", "id": "17516032", "url": "https://pubmed.ncbi.nlm.nih.gov/17516032" }, { "database": "PubMed", "id": "10381378", "url": "https://pubmed.ncbi.nlm.nih.gov/10381378" }, { "database": "PubMed", "id": "17726514", "url": "https://pubmed.ncbi.nlm.nih.gov/17726514" }, { "database": "PubMed", "id": "22014574", "url": "https://pubmed.ncbi.nlm.nih.gov/22014574" }, { "database": "PubMed", "id": "11427894", "url": "https://pubmed.ncbi.nlm.nih.gov/11427894" }, { "database": "PubMed", "id": "16909107", "url": "https://pubmed.ncbi.nlm.nih.gov/16909107" }, { "database": "PubMed", "id": "27512957", "url": "https://pubmed.ncbi.nlm.nih.gov/27512957" }, { "database": "PubMed", "id": "12620231", "url": "https://pubmed.ncbi.nlm.nih.gov/12620231" }, { "database": "PubMed", "id": "29239724", "url": "https://pubmed.ncbi.nlm.nih.gov/29239724" }, { "database": "PubMed", "id": "11812793", "url": "https://pubmed.ncbi.nlm.nih.gov/11812793" }, { "database": "PubMed", "id": "17488717", "url": "https://pubmed.ncbi.nlm.nih.gov/17488717" }, { "database": "PubMed", "id": "12697818", "url": "https://pubmed.ncbi.nlm.nih.gov/12697818" } ], "uniprot_canonical_ac": "Q8IXJ6-1" }, { "start_pos": 279, "end_pos": 279, "sequence_org": "S", "sequence_mut": "A", "comment": "Reduces deacetylase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8IXJ6", "url": "https://www.uniprot.org/uniprotkb/Q8IXJ6" }, { "database": "PubMed", "id": "17516032", "url": "https://pubmed.ncbi.nlm.nih.gov/17516032" } ], "uniprot_canonical_ac": "Q8IXJ6-1" }, { "start_pos": 280, "end_pos": 280, "sequence_org": "T", "sequence_mut": "A", "comment": "Reduces deacetylase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8IXJ6", "url": "https://www.uniprot.org/uniprotkb/Q8IXJ6" }, { "database": "PubMed", "id": "17516032", "url": "https://pubmed.ncbi.nlm.nih.gov/17516032" } ], "uniprot_canonical_ac": "Q8IXJ6-1" }, { "start_pos": 311, "end_pos": 311, "sequence_org": "S", "sequence_mut": "A", "comment": "Reduces deacetylase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8IXJ6", "url": "https://www.uniprot.org/uniprotkb/Q8IXJ6" }, { "database": "PubMed", "id": "17516032", "url": "https://pubmed.ncbi.nlm.nih.gov/17516032" } ], "uniprot_canonical_ac": "Q8IXJ6-1" }, { "start_pos": 315, "end_pos": 315, "sequence_org": "Y", "sequence_mut": "A", "comment": "Reduces deacetylase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8IXJ6", "url": "https://www.uniprot.org/uniprotkb/Q8IXJ6" }, { "database": "PubMed", "id": "17516032", "url": "https://pubmed.ncbi.nlm.nih.gov/17516032" } ], "uniprot_canonical_ac": "Q8IXJ6-1" }, { "start_pos": 364, "end_pos": 364, "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes CDK2-dependent phosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "Q8IXJ6", "url": "https://www.uniprot.org/uniprotkb/Q8IXJ6" }, { "database": "PubMed", "id": "17516032", "url": "https://pubmed.ncbi.nlm.nih.gov/17516032" } ], "uniprot_canonical_ac": "Q8IXJ6-1" }, { "start_pos": 368, "end_pos": 368, "sequence_org": "S", "sequence_mut": "A", "comment": "Does not affect deacetylase activity. Abolishes CDK2-dependent phosphorylation. Inhibits cellular proliferation delay in the early metaphase to prevent chromosomal instability. Does not inhibit interaction with a cyclin E-CDK2 complex. Does not inhibit interaction with HDAC6 and ubiquitination. Inhibits cell adhesion and migration and neurite outgrowth. Inhibits deacetylase activity; when associated with A-372.", "evidence": [ { "database": "UniProtKB", "id": "Q8IXJ6", "url": "https://www.uniprot.org/uniprotkb/Q8IXJ6" }, { "database": "PubMed", "id": "17516032", "url": "https://pubmed.ncbi.nlm.nih.gov/17516032" }, { "database": "PubMed", "id": "18332217", "url": "https://pubmed.ncbi.nlm.nih.gov/18332217" }, { "database": "PubMed", "id": "17488717", "url": "https://pubmed.ncbi.nlm.nih.gov/17488717" } ], "uniprot_canonical_ac": "Q8IXJ6-1" }, { "start_pos": 368, "end_pos": 368, "sequence_org": "S", "sequence_mut": "D", "comment": "Abolishes CDK2-dependent phosphorylation. Inhibits interaction with a cyclin E-CDK2 complex. Reduces strongly histone deacetylation activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8IXJ6", "url": "https://www.uniprot.org/uniprotkb/Q8IXJ6" }, { "database": "PubMed", "id": "17516032", "url": "https://pubmed.ncbi.nlm.nih.gov/17516032" }, { "database": "PubMed", "id": "18332217", "url": "https://pubmed.ncbi.nlm.nih.gov/18332217" }, { "database": "PubMed", "id": "17488717", "url": "https://pubmed.ncbi.nlm.nih.gov/17488717" } ], "uniprot_canonical_ac": "Q8IXJ6-1" }, { "start_pos": 368, "end_pos": 368, "sequence_org": "S", "sequence_mut": "E", "comment": "Abolishes CDK2-dependent phosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "Q8IXJ6", "url": "https://www.uniprot.org/uniprotkb/Q8IXJ6" }, { "database": "PubMed", "id": "17516032", "url": "https://pubmed.ncbi.nlm.nih.gov/17516032" }, { "database": "PubMed", "id": "18332217", "url": "https://pubmed.ncbi.nlm.nih.gov/18332217" }, { "database": "PubMed", "id": "17488717", "url": "https://pubmed.ncbi.nlm.nih.gov/17488717" } ], "uniprot_canonical_ac": "Q8IXJ6-1" }, { "start_pos": 372, "end_pos": 372, "sequence_org": "S", "sequence_mut": "A", "comment": "Reduces phosphorylation. Does not inhibit interaction with HDAC6, ubiquitination and deacetylase activity. Inhibits deacetylase activity; when associated with A-368.", "evidence": [ { "database": "UniProtKB", "id": "Q8IXJ6", "url": "https://www.uniprot.org/uniprotkb/Q8IXJ6" }, { "database": "PubMed", "id": "17516032", "url": "https://pubmed.ncbi.nlm.nih.gov/17516032" } ], "uniprot_canonical_ac": "Q8IXJ6-1" }, { "start_pos": 53, "end_pos": 53, "sequence_org": "S", "sequence_mut": "A", "comment": "Reduces deacetylase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8IXJ6", "url": "https://www.uniprot.org/uniprotkb/Q8IXJ6" }, { "database": "PubMed", "id": "17516032", "url": "https://pubmed.ncbi.nlm.nih.gov/17516032" } ], "uniprot_canonical_ac": "Q8IXJ6-1" }, { "start_pos": 98, "end_pos": 98, "sequence_org": "S", "sequence_mut": "A", "comment": "Inhibits deacetylase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8IXJ6", "url": "https://www.uniprot.org/uniprotkb/Q8IXJ6" }, { "database": "PubMed", "id": "17516032", "url": "https://pubmed.ncbi.nlm.nih.gov/17516032" } ], "uniprot_canonical_ac": "Q8IXJ6-1" } ], "phosphorylation": [ { "start_pos": 368, "end_pos": 368, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by CDK2 and CDK5", "evidence": [ { "database": "UniProtKB", "id": "Q8IXJ6", "url": "https://www.uniprot.org/uniprotkb/Q8IXJ6" }, { "database": "iPTMnet", "id": "Q8IXJ6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXJ6" }, { "database": "PubMed", "id": "17081983", "url": "https://pubmed.ncbi.nlm.nih.gov/17081983" }, { "database": "PubMed", "id": "18510355", "url": "https://pubmed.ncbi.nlm.nih.gov/18510355" }, { "database": "PubMed", "id": "18669648", "url": "https://pubmed.ncbi.nlm.nih.gov/18669648" }, { "database": "PubMed", "id": "19413330", "url": "https://pubmed.ncbi.nlm.nih.gov/19413330" }, { "database": "PubMed", "id": "17488717", "url": "https://pubmed.ncbi.nlm.nih.gov/17488717" }, { "database": "PubMed", "id": "18332217", "url": "https://pubmed.ncbi.nlm.nih.gov/18332217" }, { "database": "PubMed", "id": "17516032", "url": "https://pubmed.ncbi.nlm.nih.gov/17516032" }, { "database": "PubMed", "id": "23186163", "url": "https://pubmed.ncbi.nlm.nih.gov/23186163" } ], "site_lbl": "Ser368", "uniprot_canonical_ac": "Q8IXJ6-1" }, { "start_pos": 372, "end_pos": 372, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8IXJ6", "url": "https://www.uniprot.org/uniprotkb/Q8IXJ6" }, { "database": "PubMed", "id": "17516032", "url": "https://pubmed.ncbi.nlm.nih.gov/17516032" }, { "database": "iPTMnet", "id": "Q8IXJ6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXJ6" } ], "site_lbl": "Ser372", "uniprot_canonical_ac": "Q8IXJ6-1" } ], "record_id": "pubmed.17516032", "abstract": "", "glycosylation": [], "snv": [], "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 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "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": "HDAC6 is a specific deacetylase of peroxiredoxins and is involved in redox regulation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008-07-15", "authors": "Parmigiani R B, Xu W S, Venta-Perez G, Erdjument-Bromage H, Yaneva M, Tempst P, Marks P A", "reference": { "type": "PubMed", "id": "18606987", "url": "https://pubmed.ncbi.nlm.nih.gov/18606987" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UBN7-1", "protein_name": "Protein deacetylase HDAC6", "gene_name": "HDAC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P32119-1", "protein_name": "Peroxiredoxin-2", "gene_name": "PRDX2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q06830-1", "protein_name": "Peroxiredoxin-1", "gene_name": "PRDX1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBN7", "url": "https://www.uniprot.org/uniprotkb/Q9UBN7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 196, "end_pos": 196, "sequence_org": "K", "sequence_mut": "R", "comment": "Abolishes acetylation.", "evidence": [ { "database": "UniProtKB", "id": "P32119", "url": 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[], "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": "The ubiquitin-like modifier FAT10 interacts with HDAC6 and localizes to aggresomes under proteasome inhibition.", "journal": "J. Cell Sci.", "date": "2008", "authors": "Kalveram B, Schmidtke G, Groettrup M", "reference": { "type": "PubMed", "id": "19033385", "url": "https://pubmed.ncbi.nlm.nih.gov/19033385" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UBN7-1", "protein_name": "Protein deacetylase HDAC6", "gene_name": "HDAC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15205-1", "protein_name": "Ubiquitin D", "gene_name": "UBD", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBN7", "url": "https://www.uniprot.org/uniprotkb/Q9UBN7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.19033385", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": 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Biophys. Res. Commun.", "date": "2010", "authors": "Zhuang Yan, Nguyen Hong T, Lasky Joseph A, Cao Subing, Li Cui, Hu Jiyao, Guo Xinyue, Burow Matthew E, Shan Bin", "reference": { "type": "PubMed", "id": "20102703", "url": "https://pubmed.ncbi.nlm.nih.gov/20102703" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UBN7-1", "protein_name": "Protein deacetylase HDAC6", "gene_name": "HDAC6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBN7", "url": "https://www.uniprot.org/uniprotkb/Q9UBN7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.20102703", "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 mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia.", "journal": "Hum. 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Genet.", "date": "2010", "authors": "Simon Delphine, Laloo Benoit, Barillot Malika, Barnetche Thomas, Blanchard Camille, Rooryck Caroline, Marche Mich\u00e8le, Burgelin Ingrid, Coupry Isabelle, Chassaing Nicolas, Gilbert-Dussardier Brigitte, Lacombe Didier, Grosset Christophe, Arveiler Benoit", "reference": { "type": "PubMed", "id": "20181727", "url": "https://pubmed.ncbi.nlm.nih.gov/20181727" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UBN7-1", "protein_name": "Protein deacetylase HDAC6", "gene_name": "HDAC6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBN7", "url": "https://www.uniprot.org/uniprotkb/Q9UBN7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.20181727", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ 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