{ "uniprot_canonical_ac": "O75317-1", "uniprot_ac": "O75317", "uniprot_id": "UBP12_HUMAN", "mass": { "chemical_mass": 42858.0, "monoisotopic_mass": 42858.0 }, "refseq": { "ac": "NP_872294", "name": "ubiquitin carboxyl-terminal hydrolase 12", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872294" }, "gene_names": [ { "name": "USP12", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75317", "id": "O75317" }, { "name": "UBH1; USP12L1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872294", "id": "NP_872294" }, { "name": "UBH1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75317", "id": "O75317" }, { "name": "USP12L1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75317", "id": "O75317" }, { "name": "USP12", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872294", "id": "NP_872294" } ], "protein_names": [ { "name": "Ubiquitin carboxyl-terminal hydrolase 12", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75317" }, { "name": "3.4.19.12", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75317" }, { "name": "Deubiquitinating enzyme 12", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75317" }, { "name": "Ubiquitin thioesterase 12", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75317" }, { "name": "Ubiquitin-hydrolyzing enzyme 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75317" }, { "name": "Ubiquitin-specific-processing protease 12", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75317" }, { "name": "ubiquitin carboxyl-terminal hydrolase 12", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872294", "id": "NP_872294" }, { "name": "ubiquitin specific protease 12 like 1; ubiquitin-specific-processing protease 12; deubiquitinating enzyme 12; ubiquitin-hydrolyzing enzyme 1; ubiquitin thioesterase 12; ubiquitin thiolesterase 12", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872294", "id": "NP_872294" } ], "function": [ { "annotation": "(Microbial infection) Forms a complex with Epstein-Barr virus protein EBNA3 which is an active deubiquitinase activity that may select specific substrates to promote B-lymphocyte transformation.", "evidence": [ { "database": "UniProtKB", "id": "O75317", "url": "https://www.uniprot.org/uniprot/O75317#function" }, { "database": "PubMed", "id": "25855980", "url": "https://glygen.org/publication/PubMed/25855980" } ] }, { "annotation": "Deubiquitinating enzyme that plays various roles in the regulation of the immune response and inflammation (PubMed:19075014, PubMed:27373336). In complex with WDR48, acts as a potential tumor suppressor by positively regulating PHLPP1 stability (PubMed:24145035). During TCR engagement and activation, translocates into the cytoplasm and deubiquitinates its substrates LAT and TRAT1 and prevents their lysosome-dependent degradation to stabilize the TCR signaling complex at the plasma membrane (PubMed:26811477). Plays an essential role in the selective LPS-induced macrophage response through the activation of NF-kappa-B pathway (PubMed:28063927). In addition, promotes that antiviral immune response through targeting DNA sensor IFI16 to inhibit its proteasome-dependent degradation (PubMed:37410794). Participates in the interferon signaling pathway and antiviral response independently of its deubiquitinase activity by maintaining nuclear phosphorylated STAT1 levels via inhibition of its CREBBP-mediated acetylation and subsequent dephosphorylation (PubMed:31899788). Plays an intrinsic role in promoting the differentiation, activation and proliferation of CD4(+) T-cell by activating the NF-kappa-B signaling pathway through deubiquitinating and stabilizing B-cell lymphoma/leukemia 10/BCL10 (By similarity). In myeloid-derived suppressor cells promotes the activation of the NF-kappa-B via deubiquitination and stabilization of RELA (By similarity). Regulates the 'Lys-63'-linked polyubiquitin chains of BAX and thereby modulates the mitochondrial apoptotic process (PubMed:36361894).", "evidence": [ { "database": "UniProtKB", "id": "O75317", "url": "https://www.uniprot.org/uniprot/O75317#function" }, { "database": "PubMed", "id": "27373336", "url": "https://glygen.org/publication/PubMed/27373336" }, { "database": "PubMed", "id": "24145035", "url": "https://glygen.org/publication/PubMed/24145035" }, { "database": "PubMed", "id": "19075014", "url": "https://glygen.org/publication/PubMed/19075014" }, { "database": "PubMed", "id": "31899788", "url": "https://glygen.org/publication/PubMed/31899788" }, { "database": "PubMed", "id": "36361894", "url": "https://glygen.org/publication/PubMed/36361894" }, { "database": "PubMed", "id": "28063927", "url": "https://glygen.org/publication/PubMed/28063927" }, { "database": "UniProtKB", "id": "Q9D9M2", "url": "https://www.uniprot.org/uniprot/Q9D9M2#function" }, { "database": "PubMed", "id": "37410794", "url": "https://glygen.org/publication/PubMed/37410794" }, { "database": "PubMed", "id": "26811477", "url": "https://glygen.org/publication/PubMed/26811477" } ] }, { "annotation": "Two novel multisubunit deubiquitinating enzyme complexes containing USP12 and USP46, respectively. Both complexes contain the UAF1 protein as a bona fide subunit. Interestingly, UAF1", "evidence": [ { "database": "RefSeq", "id": "NP_872294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872294" }, { "database": "PubMed", "id": "19075014", "url": "https://glygen.org/publication/PubMed/19075014" } ] }, { "annotation": "USP12 downregulation orchestrates a protumourigenic microenvironment and enhances lung tumour resistance to PD-1 blockade. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_872294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872294" }, { "database": "PubMed", "id": "34381028", "url": "https://glygen.org/publication/PubMed/34381028" } ] }, { "annotation": "USP12 positively regulates M-MDSC function to inhibit antitumour immunity through deubiquitinating and stabilizing p65.", "evidence": [ { "database": "RefSeq", "id": "NP_872294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872294" }, { "database": "PubMed", "id": "35898171", "url": "https://glygen.org/publication/PubMed/35898171" } ] }, { "annotation": "USP12 promotes nonsmall cell lung cancer progression through deubiquitinating and stabilizing RRM2.", "evidence": [ { "database": "RefSeq", "id": "NP_872294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872294" }, { "database": "PubMed", "id": "37341611", "url": "https://glygen.org/publication/PubMed/37341611" } ] }, { "annotation": "USP12 regulates ER stress-associated osteogenesis in human periodontal ligament cells under tension stress.", "evidence": [ { "database": "RefSeq", "id": "NP_872294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872294" }, { "database": "PubMed", "id": "38113977", "url": "https://glygen.org/publication/PubMed/38113977" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 190, "end_pos": 190, "sequence_org": "E", "sequence_mut": "K", "comment": "Impaired binding to WDR48.", "evidence": [ { "database": "UniProtKB", "id": "O75317", "url": "https://www.uniprot.org/uniprot/O75317" }, { "database": "PubMed", "id": "27650958", "url": "https://glygen.org/publication/PubMed/27650958" } ] }, { "start_pos": 208, "end_pos": 210, "sequence_org": "QNT", "sequence_mut": "GGG", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "O75317", "url": "https://www.uniprot.org/uniprot/O75317" }, { "database": "PubMed", "id": "27373336", "url": "https://glygen.org/publication/PubMed/27373336" } ] }, { "start_pos": 219, "end_pos": 219, "sequence_org": "F", "sequence_mut": "A", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "O75317", "url": "https://www.uniprot.org/uniprot/O75317" }, { "database": "PubMed", "id": "27373336", "url": "https://glygen.org/publication/PubMed/27373336" } ] }, { "start_pos": 240, "end_pos": 240, "sequence_org": "Q", "sequence_mut": "A", "comment": "Impaired binding to WDR48; when associated with A-241.", "evidence": [ { "database": "UniProtKB", "id": "O75317", "url": "https://www.uniprot.org/uniprot/O75317" }, { "database": "PubMed", "id": "27373336", "url": "https://glygen.org/publication/PubMed/27373336" } ] }, { "start_pos": 241, "end_pos": 241, "sequence_org": "E", "sequence_mut": "A", "comment": "Impaired binding to WDR48; when associated with A-240.", "evidence": [ { "database": "UniProtKB", "id": "O75317", "url": "https://www.uniprot.org/uniprot/O75317" }, { "database": "PubMed", "id": "27373336", "url": "https://glygen.org/publication/PubMed/27373336" } ] }, { "start_pos": 264, "end_pos": 264, "sequence_org": "Y", "sequence_mut": "A", "comment": "Strong reduction of activity.", "evidence": [ { "database": "UniProtKB", "id": "O75317", "url": "https://www.uniprot.org/uniprot/O75317" }, { "database": "PubMed", "id": "27373336", "url": "https://glygen.org/publication/PubMed/27373336" } ] }, { "start_pos": 279, "end_pos": 279, "sequence_org": "V", "sequence_mut": "D", "comment": "Impaired binding to WDR20; when associated with A-287. Impaired binding to DMWD; when associated with A-287. Does not promote relocation to the plasma membrane in presence of WDR20; when associated with A-287.", "evidence": [ { "database": "UniProtKB", "id": "O75317", "url": "https://www.uniprot.org/uniprot/O75317" }, { "database": "PubMed", "id": "27373336", "url": "https://glygen.org/publication/PubMed/27373336" }, { "database": "PubMed", "id": "30466959", "url": "https://glygen.org/publication/PubMed/30466959" }, { "database": "PubMed", "id": "33844468", "url": "https://glygen.org/publication/PubMed/33844468" } ] }, { "start_pos": 287, "end_pos": 287, "sequence_org": "F", "sequence_mut": "A", "comment": "Impaired binding to WDR20; when associated with A-279. Impaired binding to DMWD; when associated with A-279. Does not promote relocation to the plasma membrane in presence of WDR20; when associated with A-279.", "evidence": [ { "database": "UniProtKB", "id": "O75317", "url": "https://www.uniprot.org/uniprot/O75317" }, { "database": "PubMed", "id": "27373336", "url": "https://glygen.org/publication/PubMed/27373336" }, { "database": "PubMed", "id": "30466959", "url": "https://glygen.org/publication/PubMed/30466959" }, { "database": "PubMed", "id": "33844468", "url": "https://glygen.org/publication/PubMed/33844468" } ] }, { "start_pos": 48, "end_pos": 48, "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "O75317", "url": "https://www.uniprot.org/uniprot/O75317" }, { "database": "PubMed", "id": "27373336", "url": "https://glygen.org/publication/PubMed/27373336" }, { "database": "PubMed", "id": "37410794", "url": "https://glygen.org/publication/PubMed/37410794" } ] }, { "start_pos": 48, "end_pos": 48, "sequence_org": "C", "sequence_mut": "S", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "O75317", "url": "https://www.uniprot.org/uniprot/O75317" }, { "database": "PubMed", "id": "19075014", "url": "https://glygen.org/publication/PubMed/19075014" }, { "database": "PubMed", "id": "31899788", "url": "https://glygen.org/publication/PubMed/31899788" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "83.95", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000152484", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152484" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "81.31", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000152484", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152484" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "82.59", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000152484", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152484" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "75.7", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000152484", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152484" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "90.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000152484", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152484" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "92.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000152484", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152484" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "72.92", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000152484", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152484" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "85.25", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000152484", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152484" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "84.39", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000152484", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152484" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "76.1", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000152484", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152484" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "88.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000152484", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152484" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "84.45", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000152484", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152484" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "86.11", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000152484", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152484" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75317", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75317" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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: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:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "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:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "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:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "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:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "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:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "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:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "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:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75317", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75317" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://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": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "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": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75317", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75317" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": 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}, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75317", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75317" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75317" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:219333", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:219333", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603091", "url": "http://www.omim.org/entry/603091", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75317", "url": "https://www.nextprot.org/entry/NX_O75317", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "KYWVKYL", "url": "https://omabrowser.org/oma/group/KYWVKYL/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "227085at2759", "url": "http://www.orthodb.org/?query=227085at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24006", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24006", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24006:SF647", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24006:SF647", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "5K16", "url": "https://www.rcsb.org/structure/5K16", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5K1A", "url": "https://www.rcsb.org/structure/5K1A", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5K1B", "url": "https://www.rcsb.org/structure/5K1B", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5K1C", "url": "https://www.rcsb.org/structure/5K1C", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5L8W", "url": "https://www.rcsb.org/structure/5L8W", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00443", "url": "http://pfam.xfam.org/family/PF00443", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75317", "url": "https://pharos.nih.gov/targets/O75317", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75317", "url": "http://purl.obolibrary.org/obo/PR_O75317", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_872294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872294", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A087WUU2", "url": "https://www.uniprot.org/uniprot/A0A087WUU2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WUU2-1", "url": "https://www.uniprot.org/uniprot/A0A087WUU2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WWP2", "url": "https://www.uniprot.org/uniprot/A0A087WWP2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WWP2-1", "url": "https://www.uniprot.org/uniprot/A0A087WWP2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75317", "url": "https://www.uniprot.org/uniprot/O75317", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75317-1", "url": "https://www.uniprot.org/uniprot/O75317-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEILMTVSKFASICTMGANASALEKEIGPEQFPVNEHYFGLVNFGNTCYCNSVLQALYFCRPFREKVLAYKSQPRKKESLLTCLADLFHSIATQKKKVGVIPPKKFITRLRKENELFDNYMQQDAHEFLNYLLNTIADILQEERKQEKQNGRLPNGNIDNENNNSTPDPTWVHEIFQGTLTNETRCLTCETISSKDEDFLDLSVDVEQNTSITHCLRGFSNTETLCSEYKYYCEECRSKQEAHKRMKVKKLPMILALHLKRFKYMDQLHRYTKLSYRVVFPLELRLFNTSGDATNPDRMYDLVAVVVHCGSGPNRGHYIAIVKSHDFWLLFDDDIVEKIDAQAIEEFYGLTSDISKNSESGYILFYQSRD", "length": 370, "header": "sp|O75317-1|UBP12_HUMAN Isoform 1 of Ubiquitin carboxyl-terminal hydrolase 12 OS=Homo sapiens OX=9606 GN=USP12 PE=1 SV=2 CANONICAL=O75317-1" }, "isoforms": [ { "isoform_ac": "A0A087WUU2-1", "url": "", "sequence": { "sequence": "MEILMTVSKFASICTMEW", "length": 18, "header": "tr|A0A087WUU2-1|UBP12_HUMAN Computationally mapped isoform of Ubiquitin carboxyl-terminal hydrolase 12 OS=Homo sapiens OX=9606 GN=USP12 PE=1 SV=1 CANONICAL=O75317-1" }, "locus": { "chromosome": "13", "start_pos": 27171639, "end_pos": 27170324, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000620323.1", "url": "https://www.ensembl.org/id/ENST00000620323.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000478929.1", "url": "https://www.ensembl.org/id/ENSP00000478929.1" } ] } }, { "isoform_ac": "A0A087WWP2-1", "url": "", "sequence": { "sequence": "XNIDNENNNSTPDPTWVHEIFQGTLTNETRCLTCETISSKDEDFLDLSVDVEQNTSITHCLRGFSNTETLCSEYKYYCEECRSKQEAHKR", "length": 90, "header": "tr|A0A087WWP2-1|UBP12_HUMAN Computationally mapped isoform of Ubiquitin carboxyl-terminal hydrolase 12 OS=Homo sapiens OX=9606 GN=USP12 PE=1 SV=1 CANONICAL=O75317-1" }, "locus": { "chromosome": "13", "start_pos": 27095706, "end_pos": 27089880, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000612674.1", "url": "https://www.ensembl.org/id/ENST00000612674.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000480395.1", "url": "https://www.ensembl.org/id/ENSP00000480395.1" } ] } }, { "isoform_ac": "O75317-1", "url": "", "sequence": { "sequence": "MEILMTVSKFASICTMGANASALEKEIGPEQFPVNEHYFGLVNFGNTCYCNSVLQALYFCRPFREKVLAYKSQPRKKESLLTCLADLFHSIATQKKKVGVIPPKKFITRLRKENELFDNYMQQDAHEFLNYLLNTIADILQEERKQEKQNGRLPNGNIDNENNNSTPDPTWVHEIFQGTLTNETRCLTCETISSKDEDFLDLSVDVEQNTSITHCLRGFSNTETLCSEYKYYCEECRSKQEAHKRMKVKKLPMILALHLKRFKYMDQLHRYTKLSYRVVFPLELRLFNTSGDATNPDRMYDLVAVVVHCGSGPNRGHYIAIVKSHDFWLLFDDDIVEKIDAQAIEEFYGLTSDISKNSESGYILFYQSRD", "length": 370, "header": "sp|O75317-1|UBP12_HUMAN Isoform 1 of Ubiquitin carboxyl-terminal hydrolase 12 OS=Homo sapiens OX=9606 GN=USP12 PE=1 SV=2 CANONICAL=O75317-1" }, "locus": { "chromosome": "13", "start_pos": 27171639, "end_pos": 27069286, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000282344.11", "url": "https://www.ensembl.org/id/ENST00000282344.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000282344.6", "url": "https://www.ensembl.org/id/ENSP00000282344.6" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Identification, functional characterization, and chromosomal localization of USP15, a novel human ubiquitin-specific protease related to the UNP oncoprotein, and a systematic nomenclature for human ubiquitin-specific proteases.", "journal": "Genomics", "date": "1999", "authors": "Baker RT, Wang XW, Woollatt E, White JA, Sutherland GR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "10444327", "url": "https://glygen.org/publication/PubMed/10444327" } ] }, { "title": "A deubiquitinating enzyme UBPY interacts with the Src homology 3 domain of Hrs-binding protein via a novel binding motif PX(V/I)(D/N)RXXKP.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Kato M, Miyazawa K, Kitamura N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "10982817", "url": "https://glygen.org/publication/PubMed/10982817" } ] }, { "title": "A novel active site-directed probe specific for deubiquitylating enzymes reveals proteasome association of USP14.", "journal": "The EMBO journal", "date": "2001", "authors": "Borodovsky A, Kessler BM, Casagrande R, Overkleeft HS, Wilkinson KD, Ploegh HL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "11566882", "url": "https://glygen.org/publication/PubMed/11566882" } ] }, { "title": "Deubiquitination of p53 by HAUSP is an important pathway for p53 stabilization.", "journal": "Nature", "date": "2002", "authors": "Li M, Chen D, Shiloh A, Luo J, Nikolaev AY, Qin J, Gu W", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "11923872", "url": "https://glygen.org/publication/PubMed/11923872" } ] }, { "title": "CYLD is a deubiquitinating enzyme that negatively regulates NF-kappaB activation by TNFR family members.", "journal": "Nature", "date": "2003", "authors": "Trompouki E, Hatzivassiliou E, Tsichritzis T, Farmer H, Ashworth A, Mosialos G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "12917689", "url": "https://glygen.org/publication/PubMed/12917689" } ] }, { "title": "The tumour suppressor CYLD negatively regulates NF-kappaB signalling by deubiquitination.", "journal": "Nature", "date": "2003", "authors": "Kovalenko A, Chable-Bessia C, Cantarella G, Israel A, Wallach D, Courtois G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "12917691", "url": "https://glygen.org/publication/PubMed/12917691" } ] }, { "title": "Two isoforms of otubain 1 regulate T cell anergy via GRAIL.", "journal": "Nature immunology", "date": "2004", "authors": "Soares L, Seroogy C, Skrenta H, Anandasabapathy N, Lovelace P, Chung CD, Engleman E, Fathman CG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "14661020", "url": "https://glygen.org/publication/PubMed/14661020" } ] }, { "title": "A dynamic role of HAUSP in the p53-Mdm2 pathway.", "journal": "Molecular cell", "date": "2004", "authors": "Li M, Brooks CL, Kon N, Gu W", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "15053880", "url": "https://glygen.org/publication/PubMed/15053880" } ] }, { "title": "Loss of HAUSP-mediated deubiquitination contributes to DNA damage-induced destabilization of Hdmx and Hdm2.", "journal": "Molecular cell", "date": "2005", "authors": "Meulmeester E, Maurice MM, Boutell C, Teunisse AF, Ovaa H, Abraham TE, Dirks RW, Jochemsen AG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "15916963", "url": "https://glygen.org/publication/PubMed/15916963" } ] }, { "title": "Human ubiquitin specific protease 31 is a deubiquitinating enzyme implicated in activation of nuclear factor-kappaB.", "journal": "Cellular signalling", "date": "2006", "authors": "Tzimas C, Michailidou G, Arsenakis M, Kieff E, Mosialos G, Hatzivassiliou EG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "16214042", "url": "https://glygen.org/publication/PubMed/16214042" } ] }, { "title": "A role for the deubiquitinating enzyme USP28 in control of the DNA-damage response.", "journal": "Cell", "date": "2006", "authors": "Zhang D, Zaugg K, Mak TW, Elledge SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "16901786", "url": "https://glygen.org/publication/PubMed/16901786" } ] }, { "title": "FOXO4 transcriptional activity is regulated by monoubiquitination and USP7/HAUSP.", "journal": "Nature cell biology", "date": "2006", "authors": "van der Horst A, de Vries-Smits AM, Brenkman AB, van Triest MH, van den Broek N, Colland F, Maurice MM, Burgering BM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "16964248", "url": "https://glygen.org/publication/PubMed/16964248" } ] }, { "title": "The deubiquitinating enzyme USP2a regulates the p53 pathway by targeting Mdm2.", "journal": "The EMBO journal", "date": "2007", "authors": "Stevenson LF, Sparks A, Allende-Vega N, Xirodimas DP, Lane DP, Saville MK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "17290220", "url": "https://glygen.org/publication/PubMed/17290220" } ] }, { "title": "Anaphase initiation is regulated by antagonistic ubiquitination and deubiquitination activities.", "journal": "Nature", "date": "2007", "authors": "Stegmeier F, Rape M, Draviam VM, Nalepa G, Sowa ME, Ang XL, McDonald ER 3rd, Li MZ, Hannon GJ, Sorger PK, Kirschner MW, Harper JW, Elledge SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "17443180", "url": "https://glygen.org/publication/PubMed/17443180" } ] }, { "title": "Fbw7 and Usp28 regulate myc protein stability in response to DNA damage.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2007", "authors": "Popov N, Herold S, Llamazares M, Schulein C, Eilers M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "17873522", "url": "https://glygen.org/publication/PubMed/17873522" } ] }, { "title": "Human USP3 is a chromatin modifier required for S phase progression and genome stability.", "journal": "Current biology : CB", "date": "2007", "authors": "Nicassio F, Corrado N, Vissers JH, Areces LB, Bergink S, Marteijn JA, Geverts B, Houtsmuller AB, Vermeulen W, Di Fiore PP, Citterio E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "17980597", "url": "https://glygen.org/publication/PubMed/17980597" } ] }, { "title": "Regulation of early wave of germ cell apoptosis and spermatogenesis by deubiquitinating enzyme CYLD.", "journal": "Developmental cell", "date": "2007", "authors": "Wright A, Reiley WW, Chang M, Jin W, Lee AJ, Zhang M, Sun SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "17981138", "url": "https://glygen.org/publication/PubMed/17981138" } ] }, { "title": "Deubiquitylation of histone H2A activates transcriptional initiation via trans-histone cross-talk with H3K4 di- and trimethylation.", "journal": "Genes & development", "date": "2008", "authors": "Nakagawa T, Kajitani T, Togo S, Masuko N, Ohdan H, Hishikawa Y, Koji T, Matsuyama T, Ikura T, Muramatsu M, Ito T", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "18172164", "url": "https://glygen.org/publication/PubMed/18172164" } ] }, { "title": "Regulation of IkappaB kinase-related kinases and antiviral responses by tumor suppressor CYLD.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Zhang M, Wu X, Lee AJ, Jin W, Chang M, Wright A, Imaizumi T, Sun SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "18467330", "url": "https://glygen.org/publication/PubMed/18467330" } ] }, { "title": "Vasopressin-inducible ubiquitin-specific protease 10 increases ENaC cell surface expression by deubiquitylating and stabilizing sorting nexin 3.", "journal": "American journal of physiology. Renal physiology", "date": "2008", "authors": "Boulkroun S, Ruffieux-Daidie D, Vitagliano JJ, Poirot O, Charles RP, Lagnaz D, Firsov D, Kellenberger S, Staub O", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "18632802", "url": "https://glygen.org/publication/PubMed/18632802" } ] }, { "title": "The tumour suppressor CYLD is a negative regulator of RIG-I-mediated antiviral response.", "journal": "EMBO reports", "date": "2008", "authors": "Friedman CS, O'Donnell MA, Legarda-Addison D, Ng A, Cardenas WB, Yount JS, Moran TM, Basler CF, Komuro A, Horvath CM, Xavier R, Ting AT", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "18636086", "url": "https://glygen.org/publication/PubMed/18636086" } ] }, { "title": "USP19 deubiquitinating enzyme supports cell proliferation by stabilizing KPC1, a ubiquitin ligase for p27Kip1.", "journal": "Molecular and cellular biology", "date": "2009", "authors": "Lu Y, Adegoke OA, Nepveu A, Nakayama KI, Bedard N, Cheng D, Peng J, Wing SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "19015242", "url": "https://glygen.org/publication/PubMed/19015242" } ] }, { "title": "UAF1 is a subunit of multiple deubiquitinating enzyme complexes.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Cohn MA, Kee Y, Haas W, Gygi SP, D'Andrea AD", "evidence": [ { "database": "UniProtKB", "id": "O75317", "url": "https://www.uniprot.org/uniprot/O75317" }, { "database": "RefSeq", "id": "NP_872294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872294" } ], "reference": [ { "type": "PubMed", "id": "19075014", "url": 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"id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "19188362", "url": "https://glygen.org/publication/PubMed/19188362" } ] }, { "title": "Beta-arrestin-dependent signaling and trafficking of 7-transmembrane receptors is reciprocally regulated by the deubiquitinase USP33 and the E3 ligase Mdm2.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Shenoy SK, Modi AS, Shukla AK, Xiao K, Berthouze M, Ahn S, Wilkinson KD, Miller WE, Lefkowitz RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "19363159", "url": "https://glygen.org/publication/PubMed/19363159" } ] }, { "title": "The deubiquitinating enzyme USP10 regulates the post-endocytic sorting of cystic fibrosis transmembrane conductance regulator in airway epithelial cells.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Bomberger JM, Barnaby RL, Stanton BA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "19398555", "url": "https://glygen.org/publication/PubMed/19398555" } ] }, { "title": "The deubiquitinases USP33 and USP20 coordinate beta2 adrenergic receptor recycling and resensitization.", "journal": "The EMBO journal", "date": "2009", "authors": "Berthouze M, Venkataramanan V, Li Y, Shenoy SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "19424180", "url": "https://glygen.org/publication/PubMed/19424180" } ] }, { "title": "MdmX is a substrate for the deubiquitinating enzyme USP2a.", "journal": "Oncogene", "date": "2010", "authors": "Allende-Vega N, Sparks A, Lane DP, Saville MK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "19838211", "url": "https://glygen.org/publication/PubMed/19838211" } ] }, { "title": "USP11 negatively regulates TNFalpha-induced NF-kappaB activation by targeting on IkappaBalpha.", "journal": "Cellular signalling", "date": "2010", "authors": "Sun W, Tan X, Shi Y, Xu G, Mao R, Gu X, Fan Y, Yu Y, Burlingame S, Zhang H, Rednam SP, Lu X, Zhang T, Fu S, Cao G, Qin J, Yang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "19874889", "url": "https://glygen.org/publication/PubMed/19874889" } ] }, { "title": "Ubiquitin-specific peptidase 21 inhibits tumor necrosis factor alpha-induced nuclear factor kappaB activation via binding to and deubiquitinating receptor-interacting protein 1.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Xu G, Tan X, Wang H, Sun W, Shi Y, Burlingame S, Gu X, Cao G, Zhang T, Qin J, Yang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "19910467", "url": "https://glygen.org/publication/PubMed/19910467" } ] }, { "title": "USP10 regulates p53 localization and stability by deubiquitinating p53.", "journal": "Cell", "date": "2010", "authors": "Yuan J, Luo K, Zhang L, Cheville JC, Lou Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "20096447", "url": "https://glygen.org/publication/PubMed/20096447" } ] }, { "title": "WDR20 regulates activity of the USP12 x UAF1 deubiquitinating enzyme complex.", "journal": "J. 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Y, Shu HB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "20368735", "url": "https://glygen.org/publication/PubMed/20368735" } ] }, { "title": "The deubiquitinating enzyme USP26 is a regulator of androgen receptor signaling.", "journal": "Molecular cancer research : MCR", "date": "2010", "authors": "Dirac AM, Bernards R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "20501646", "url": "https://glygen.org/publication/PubMed/20501646" } ] }, { "title": "Lys-63-specific deubiquitination of SDS3 by USP17 regulates HDAC activity.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Ramakrishna S, Suresh B, Lee EJ, Lee HJ, Ahn WS, Baek KH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": 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H, Ronai ZA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "21659512", "url": "https://glygen.org/publication/PubMed/21659512" } ] }, { "title": "The USP19 deubiquitinase regulates the stability of c-IAP1 and c-IAP2.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Mei Y, Hahn AA, Hu S, Yang X", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "21849505", "url": "https://glygen.org/publication/PubMed/21849505" } ] }, { "title": "Beclin1 controls the levels of p53 by regulating the deubiquitination activity of USP10 and USP13.", "journal": "Cell", "date": "2011", "authors": "Liu J, Xia H, Kim M, Xu L, Li Y, Zhang L, Cai Y, Norberg HV, Zhang T, Furuya T, Jin M, Zhu Z, Wang H, Yu J, Li Y, Hao Y, Choi A, Ke H, 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HY", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "22216260", "url": "https://glygen.org/publication/PubMed/22216260" } ] }, { "title": "The deubiquitinating protein USP24 interacts with DDB2 and regulates DDB2 stability.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2012", "authors": "Zhang L, Lubin A, Chen H, Sun Z, Gong F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "23159851", "url": "https://glygen.org/publication/PubMed/23159851" } ] }, { "title": "Identification of the E3 deubiquitinase ubiquitin-specific peptidase 21 (USP21) as a positive regulator of the transcription factor GATA3.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Zhang J, Chen C, Hou X, Gao Y, Lin F, Yang J, Gao Z, Pan L, Tao L, Wen C, Yao Z, Tsun A, Shi G, Li B", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "23395819", "url": "https://glygen.org/publication/PubMed/23395819" } ] }, { "title": "USP33 regulates centrosome biogenesis via deubiquitination of the centriolar protein CP110.", "journal": "Nature", "date": "2013", "authors": "Li J, D'Angiolella V, Seeley ES, Kim S, Kobayashi T, Fu W, Campos EI, Pagano M, Dynlacht BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "23486064", "url": "https://glygen.org/publication/PubMed/23486064" } ] }, { "title": "USP49 deubiquitinates histone H2B and regulates cotranscriptional pre-mRNA splicing.", "journal": "Genes & development", "date": "2013", "authors": "Zhang Z, Jones A, Joo HY, Zhou D, Cao Y, Chen S, Erdjument-Bromage H, Renfrow M, He H, Tempst P, Townes TM, Giles KE, Ma L, Wang H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "23824326", "url": "https://glygen.org/publication/PubMed/23824326" } ] }, { "title": "USP18 inhibits NF-kappaB and NFAT activation during Th17 differentiation by deubiquitinating the TAK1-TAB1 complex.", "journal": "The Journal of experimental medicine", "date": "2013", "authors": "Liu X, Li H, Zhong B, Blonska M, Gorjestani S, Yan M, Tian Q, Zhang DE, Lin X, Dong C", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "23825189", "url": "https://glygen.org/publication/PubMed/23825189" } ] }, { "title": "Deubiquitinating enzyme Usp12 is a novel co-activator of the androgen receptor.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Burska UL, Harle VJ, Coffey K, Darby S, Ramsey H, O'Neill D, Logan IR, Gaughan L, Robson CN", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "24056413", "url": "https://glygen.org/publication/PubMed/24056413" } ] }, { "title": "WD repeat protein WDR48 in complex with deubiquitinase USP12 suppresses Akt-dependent cell survival signaling by stabilizing PH domain leucine-rich repeat protein phosphatase 1 (PHLPP1).", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Gangula NR, Maddika S", "evidence": [ { "database": "UniProtKB", "id": "O75317", "url": "https://www.uniprot.org/uniprot/O75317" } ], "reference": [ { "type": "PubMed", "id": "24145035", "url": "https://glygen.org/publication/PubMed/24145035" } ] }, { "title": "Ubiquitin-specific proteases 25 negatively regulates virus-induced type I interferon signaling.", "journal": "PloS one", "date": "2013", "authors": "Zhong H, Wang D, Fang L, Zhang H, Luo R, Shang M, Ouyang C, Ouyang H, Chen H, Xiao S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "24260525", "url": "https://glygen.org/publication/PubMed/24260525" } ] }, { "title": "USP21 negatively regulates antiviral response by acting as a RIG-I deubiquitinase.", "journal": "The Journal of experimental medicine", "date": "2014", "authors": "Fan Y, Mao R, Yu Y, Liu S, Shi Z, Cheng J, Zhang H, An L, Zhao Y, Xu X, Chen Z, Kogiso M, Zhang D, Zhang H, Zhang P, Jung JU, Li X, Xu G, Yang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "24493797", "url": "https://glygen.org/publication/PubMed/24493797" } ] }, { "title": "The mitochondrial deubiquitinase USP30 opposes parkin-mediated mitophagy.", "journal": "Nature", "date": "2014", "authors": "Bingol B, Tea JS, Phu L, Reichelt M, Bakalarski CE, Song Q, Foreman O, Kirkpatrick DS, Sheng M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "24896179", "url": "https://glygen.org/publication/PubMed/24896179" } ] }, { "title": "Deubiquitination and stabilization of IL-33 by USP21.", "journal": "International journal of clinical and experimental pathology", "date": "2014", "authors": "Tao L, Chen C, Song H, Piccioni M, Shi G, Li B", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "25197364", "url": "https://glygen.org/publication/PubMed/25197364" } ] }, { "title": "The histone H2A deubiquitinase USP16 interacts with HERC2 and fine-tunes cellular response to DNA damage.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Zhang Z, Yang H, Wang H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "25305019", "url": "https://glygen.org/publication/PubMed/25305019" } ] }, { "title": "The deubiquitinating enzyme USP24 is a regulator of the UV damage response.", "journal": "Cell reports", "date": "2015", "authors": "Zhang L, Nemzow L, Chen H, Lubin A, Rong X, Sun Z, Harris TK, Gong F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "25578727", "url": "https://glygen.org/publication/PubMed/25578727" } ] }, { "title": "The EBNA3 family of Epstein-Barr virus nuclear proteins associates with the USP46/USP12 deubiquitination complexes to regulate lymphoblastoid cell line growth.", "journal": "PLoS pathogens", "date": "2015", "authors": "Ohashi M, Holthaus AM, Calderwood MA, Lai CY, Krastins B, Sarracino D, Johannsen E", "evidence": [ { "database": "UniProtKB", "id": "O75317", "url": "https://www.uniprot.org/uniprot/O75317" } ], "reference": [ { "type": "PubMed", "id": "25855980", "url": "https://glygen.org/publication/PubMed/25855980" } ] }, { "title": "Usp12 stabilizes the T-cell receptor complex at the cell surface during signaling.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2016-02-09", "authors": "Jahan Akhee S, Lestra Maxime, Swee Lee Kim, Fan Ying, Lamers Mart M, Tafesse Fikadu G, Theile Christopher S, Spooner Eric, Bruzzone Roberto, Ploegh Hidde L, Sanyal Sumana", "evidence": [ { "database": "UniProtKB", "id": "O75317", "url": "https://www.uniprot.org/uniprot/O75317" } ], "reference": [ { "type": "PubMed", "id": "26811477", "url": "https://glygen.org/publication/PubMed/26811477" } ] }, { "title": "Allosteric Activation of Ubiquitin-Specific Proteases by beta-Propeller Proteins UAF1 and WDR20.", "journal": "Molecular cell", "date": "2016", "authors": "Li H, Lim KS, Kim H, Hinds TR, Jo U, Mao H, Weller CE, Sun J, Chatterjee C, D'Andrea AD, Zheng N", "evidence": [ { "database": "UniProtKB", "id": "O75317", "url": "https://www.uniprot.org/uniprot/O75317" } ], "reference": [ { "type": "PubMed", "id": "27373336", "url": "https://glygen.org/publication/PubMed/27373336" } ] }, { "title": "A conserved two-step binding for the UAF1 regulator to the USP12 deubiquitinating enzyme.", "journal": "Journal of structural biology", "date": "2016", "authors": "Dharadhar S, Clerici M, van Dijk WJ, Fish A, Sixma TK", "evidence": [ { "database": "UniProtKB", "id": "O75317", "url": "https://www.uniprot.org/uniprot/O75317" } ], "reference": [ { "type": "PubMed", "id": "27650958", "url": "https://glygen.org/publication/PubMed/27650958" } ] }, { "title": "Deubiquitinase USP12 promotes LPS induced macrophage responses through inhibition of IkappaBalpha.", "journal": "Biochemical and biophysical research communications", "date": "2017", "authors": "Nayak TKS, Alamuru-Yellapragada NP, Parsa KVL", "evidence": [ { "database": "UniProtKB", "id": "O75317", "url": "https://www.uniprot.org/uniprot/O75317" } ], "reference": [ { "type": "PubMed", "id": "28063927", "url": "https://glygen.org/publication/PubMed/28063927" } ] }, { "title": "WDR20 regulates shuttling of the USP12 deubiquitinase complex between the plasma membrane, cytoplasm and nucleus.", "journal": "European journal of cell biology", "date": "2019", "authors": "Olazabal-Herrero A, Sendino M, Arganda-Carreras I, Rodriguez JA", "evidence": [ { "database": "UniProtKB", "id": "O75317", "url": "https://www.uniprot.org/uniprot/O75317" } ], "reference": [ { "type": "PubMed", "id": "30466959", "url": "https://glygen.org/publication/PubMed/30466959" } ] }, { "title": "USP12 translocation maintains interferon antiviral efficacy by inhibiting CBP acetyltransferase activity.", "journal": "PLoS pathogens", "date": "2020", "authors": "Liu J, Jin L, Chen X, Yuan Y, Zuo Y, Miao Y, Feng Q, Zhang H, Huang F, Guo T, Zhang L, Zhu L, Qian F, Zhu C, Zheng H", "evidence": [ { "database": "UniProtKB", "id": "O75317", "url": "https://www.uniprot.org/uniprot/O75317" } ], "reference": [ { "type": "PubMed", "id": "31899788", "url": "https://glygen.org/publication/PubMed/31899788" } ] }, { "title": "The dystrophia myotonica WD repeat-containing protein DMWD and WDR20 differentially regulate USP12 deubiquitinase.", "journal": "The FEBS journal", "date": "2021-10", "authors": "Olazabal-Herrero Anne, Bilbao-Arribas Martin, Carlevaris Onintza, Sendino Maria, Varela-Martinez Endika, Jugo Bego\u00f1a M, Berra Edurne, Rodriguez Jose Antonio", "evidence": [ { "database": "UniProtKB", "id": "O75317", "url": "https://www.uniprot.org/uniprot/O75317" } ], "reference": [ { "type": "PubMed", "id": "33844468", "url": "https://glygen.org/publication/PubMed/33844468" } ] }, { "title": "USP12 downregulation orchestrates a protumourigenic microenvironment and enhances lung tumour resistance to PD-1 blockade.", "journal": "Nature communications", "date": "2021", "authors": "Yang Z, Xu G, Wang B, Liu Y, Zhang L, Jing T, Tang M, Xu X, Jiao K, Xiang L, Fu Y, Tang D, Zhang X, Jin W, Zhuang G, Zhao X, Liu Y", "evidence": [ { "database": "RefSeq", "id": "NP_872294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872294" } ], "reference": [ { "type": "PubMed", "id": "34381028", "url": "https://glygen.org/publication/PubMed/34381028" } ] }, { "title": "USP12 positively regulates M-MDSC function to inhibit antitumour immunity through deubiquitinating and stabilizing p65.", "journal": "Immunology", "date": "2022", "authors": "Zhan X, He Q, Sheng J, Jiang X, Lin L, Huang Y, He S, Chen Y, Li L, Zeng Z, Hu S, Wang P, Zhang Y", "evidence": [ { "database": "RefSeq", "id": "NP_872294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872294" } ], "reference": [ { "type": "PubMed", "id": "35898171", "url": "https://glygen.org/publication/PubMed/35898171" } ] }, { "title": "Deubiquitinating Enzyme USP12 Regulates the Pro-Apoptosis Protein Bax.", "journal": "International journal of molecular sciences", "date": "2022-10-28", "authors": "Choi Hae-Seul, Lim Eun-Su, Baek Kwang-Hyun", "evidence": [ { "database": "UniProtKB", "id": "O75317", "url": "https://www.uniprot.org/uniprot/O75317" } ], "reference": [ { "type": "PubMed", "id": "36361894", "url": "https://glygen.org/publication/PubMed/36361894" } ] }, { "title": "USP12 promotes nonsmall cell lung cancer progression through deubiquitinating and stabilizing RRM2.", "journal": "Molecular carcinogenesis", "date": "2023-10", "authors": "Chen Congcong, Xue Ning, Liu Kangshou, He Qiang, Wang Cong, Guo Yanguan, Tian Jiaxin, Liu Xinjian, Pan Yunlong, Chen Guo", "evidence": [ { "database": "RefSeq", "id": "NP_872294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872294" } ], "reference": [ { "type": "PubMed", "id": "37341611", "url": "https://glygen.org/publication/PubMed/37341611" } ] }, { "title": "USP12 promotes antiviral responses by deubiquitinating and stabilizing IFI16.", "journal": "PLoS pathogens", "date": "2023-07", "authors": "Fu Yuling, Zhan Xiaoxia, You Xiaolong, Nie Dingnai, Mai Haiyan, Chen Yitian, He Shitong, Sheng Junli, Zeng Zhijie, Li Hongwei, Li Jinlong, Hu Shengfeng", "evidence": [ { "database": "UniProtKB", "id": "O75317", "url": "https://www.uniprot.org/uniprot/O75317" } ], "reference": [ { "type": "PubMed", "id": "37410794", "url": "https://glygen.org/publication/PubMed/37410794" } ] }, { "title": "USP12 regulates ER stress-associated osteogenesis in human periodontal ligament cells under tension stress.", "journal": "Cellular signalling", "date": "2024-02", "authors": "Liu Xiaoyu, Wang Beike, Chang Maolin, Zhang Xiaocen, Zou Hao, Zhang Zhen, Han Guangli", "evidence": [ { "database": "RefSeq", "id": "NP_872294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872294" } ], "reference": [ { "type": "PubMed", "id": "38113977", "url": "https://glygen.org/publication/PubMed/38113977" } ] }, { "title": "Metabolism of the polyubiquitin degradation signal: structure, mechanism, and role of isopeptidase T.", "journal": "Biochemistry", "date": "1995", "authors": "Wilkinson KD, Tashayev VL, O'Connor LB, Larsen CN, Kasperek E, Pickart CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "7578059", "url": "https://glygen.org/publication/PubMed/7578059" } ] }, { "title": "An evolutionarily conserved gene on human chromosome 5q33-q34, UBH1, encodes a novel deubiquitinating enzyme.", "journal": "Genomics", "date": "1998", "authors": "Hansen-Hagge TE, Janssen JW, Hameister H, Papa 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"MEILMTVSKFASICTMGANASALEKEIGPEQFPVNEHYFGLVNFGNTCYCNSVLQALYFCRPFRDKVLAYKSQPRKKESLLTCLADLFHSIATQKKKVGVIPPKKFITRLRKENELFDNYMQQDAHEFLNYLLNTIADILQEERKQEKQNGRLRNGDVDSEDNNSTPDPTWVHEIFQGTLTNETRCLTCETISSKDEDFLDLSVDVEQNTSITHCLRGFSNTETLCSEYKYYCEECRSKQEAHKRMKVKKLPMILALHLKRFKYMDQLHRYTKLSYRVVFPLELRLFNTSGDATNPDRMYDLVAVVVHCGSGPNRGHYIAIVKSHDFWLLFDDDIVEKIDAQAIEEFYGLTSDISKNSESGYILFYQSRD", "length": 370 }, "evidence": [ { "id": "45920439", "url": "http://www.informatics.jax.org/homology/45920439", "database": "MGI" }, { "id": "O75317", "url": "https://omabrowser.org/oma/group/O75317/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9D9M2-1", "protein_name": "Ubiquitin carboxyl-terminal hydrolase 12", "gene_name": "Usp12", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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