{ "uniprot_canonical_ac": "O94782-1", "uniprot_ac": "O94782", "uniprot_id": "UBP1_HUMAN", "mass": { "chemical_mass": 88207.0, "monoisotopic_mass": 88207.0 }, "refseq": { "ac": "NP_001017415", "name": "ubiquitin carboxyl-terminal hydrolase 1", "summary": "This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. The protein specifically deubiquitinates a protein in the Fanconi anemia (FA) DNA repair pathway. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017415" }, "gene_names": [ { "name": "USP1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O94782", "id": "O94782" }, { "name": "UBP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017415", "id": "NP_001017415" }, { "name": "USP1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017415", "id": "NP_001017415" } ], "protein_names": [ { "name": "Ubiquitin carboxyl-terminal hydrolase 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O94782" }, { "name": "3.4.19.12", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94782" }, { "name": "Deubiquitinating enzyme 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94782" }, { "name": "Ubiquitin thioesterase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94782" }, { "name": "Ubiquitin-specific-processing protease 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94782" }, { "name": "hUBP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94782" }, { "name": "ubiquitin carboxyl-terminal hydrolase 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017415", "id": "NP_001017415" }, { "name": "ubiquitin specific protease 1; deubiquitinating enzyme 1; ubiquitin specific processing protease 1; ubiquitin thiolesterase 1; hUBP; ubiquitin thioesterase 1; Ubiquitinyl hydrolase 1, Ubiquitin carboxyl-terminal hydrolase 1, ubiquitin thiolesterase 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017415", "id": "NP_001017415" } ], "function": [ { "annotation": "Negative regulator of DNA damage repair which specifically deubiquitinates monoubiquitinated FANCD2 (PubMed:15694335). Also involved in PCNA-mediated translesion synthesis (TLS) by deubiquitinating monoubiquitinated PCNA (PubMed:16531995, PubMed:20147293). Has almost no deubiquitinating activity by itself and requires the interaction with WDR48 to have a high activity (PubMed:18082604, PubMed:26388029).", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782#function" }, { "database": "PubMed", "id": "16531995", "url": "https://glygen.org/publication/PubMed/16531995" }, { "database": "PubMed", "id": "18082604", "url": "https://glygen.org/publication/PubMed/18082604" }, { "database": "PubMed", "id": "15694335", "url": "https://glygen.org/publication/PubMed/15694335" }, { "database": "PubMed", "id": "26388029", "url": "https://glygen.org/publication/PubMed/26388029" }, { "database": "PubMed", "id": "20147293", "url": "https://glygen.org/publication/PubMed/20147293" } ] }, { "annotation": "The UAF1-USP1 Deubiquitinase Complex Stabilizes cGAS and Facilitates Antiviral Responses.", "evidence": [ { "database": "RefSeq", "id": "NP_001017415", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017415" }, { "database": "PubMed", "id": "38054892", "url": "https://glygen.org/publication/PubMed/38054892" } ] }, { "annotation": "This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. The protein specifically deubiquitinates a protein in the Fanconi anemia (FA) DNA repair pathway. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001017415", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017415" } ] }, { "annotation": "USP1 deubiquitinates FANCD2 protein when cells exit S phase or recommence cycling after a DNA damage insult and may play a critical role in the Fanconi anemia pathway by recycling FANCD2.", "evidence": [ { "database": "RefSeq", "id": "NP_001017415", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017415" }, { "database": "PubMed", "id": "15694335", "url": "https://glygen.org/publication/PubMed/15694335" } ] }, { "annotation": "USP1 modulates hepatocellular carcinoma progression via the Hippo/TAZ axis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001017415", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017415" }, { "database": "PubMed", "id": "37041150", "url": "https://glygen.org/publication/PubMed/37041150" } ] }, { "annotation": "USP1 promotes cholangiocarcinoma progression by deubiquitinating PARP1 to prevent its proteasomal degradation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001017415", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017415" }, { "database": "PubMed", "id": "37821462", "url": "https://glygen.org/publication/PubMed/37821462" } ] }, { "annotation": "USP1 promotes the aerobic glycolysis and progression of T-cell acute lymphoblastic leukemia via PLK1/LDHA axis.", "evidence": [ { "database": "RefSeq", "id": "NP_001017415", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017415" }, { "database": "PubMed", "id": "36912760", "url": "https://glygen.org/publication/PubMed/36912760" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 444, "end_pos": 444, "sequence_org": "E", "sequence_mut": "K", "comment": "Strongly reduces interaction with WDR48 and activation by WDR48.", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" }, { "database": "PubMed", "id": "26388029", "url": "https://glygen.org/publication/PubMed/26388029" } ] }, { "start_pos": 670, "end_pos": 671, "sequence_org": "GG", "sequence_mut": "AA", "comment": "Loss of autolysis-mediated degradation upon UV irradiation. No effect on catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" }, { "database": "PubMed", "id": "16531995", "url": "https://glygen.org/publication/PubMed/16531995" } ] }, { "start_pos": 90, "end_pos": 90, "sequence_org": "C", "sequence_mut": "S", "comment": "Loss of catalytic activity including autolysis.", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" }, { "database": "PubMed", "id": "16531995", "url": "https://glygen.org/publication/PubMed/16531995" }, { "database": "PubMed", "id": "15694335", "url": "https://glygen.org/publication/PubMed/15694335" }, { "database": "PubMed", "id": "26388029", "url": "https://glygen.org/publication/PubMed/26388029" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "81.38", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000162607", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162607" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "94.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162607", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162607" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "77.86", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000162607", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162607" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "73.18", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000162607", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162607" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "90.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162607", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162607" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "90.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162607", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162607" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "73.1", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000162607", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162607" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "89.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162607", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162607" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "85.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162607", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162607" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "70.97", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000162607", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162607" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "81.3", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000162607", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162607" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "82.46", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000162607", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162607" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "86.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162607", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162607" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O94782", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94782" } ], "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, 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"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": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O94782", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94782" } ], "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": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O94782", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94782" } ], "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 cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O94782", "url": 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"length": 785, "header": "sp|O94782-1|UBP1_HUMAN Isoform 1 of Ubiquitin carboxyl-terminal hydrolase 1 OS=Homo sapiens OX=9606 GN=USP1 PE=1 SV=1 CANONICAL=O94782-1" }, "isoforms": [ { "isoform_ac": "C9JC88-1", "url": "", "sequence": { "sequence": "MPGVIPSESNGLSRGSPSKKNRLSLKFFQKKETKRALDFTDSQENEEKASEYRASEIDQVVPAAQSSPINCEKRENLLPFVGLNNLGNTCYLNSILQVLYFCPGFKSGVKHLFNIISRKKEALKDEANQKDKGNCKEDSLASYELICSLQSLIISVEQLQASFLLNPEKYTDELATQPRRLLNTLR", "length": 186, "header": "tr|C9JC88-1|C9JC88_HUMAN Computationally mapped isoform of Ubiquitin specific peptidase 1 OS=Homo sapiens OX=9606 GN=USP1 PE=1 SV=1 CANONICAL=O94782-1" }, "locus": { "chromosome": "1", "start_pos": 62443320, "end_pos": 62439868, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000452143.5", "url": "https://www.ensembl.org/id/ENST00000452143.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000403662.1", "url": "https://www.ensembl.org/id/ENSP00000403662.1" } ] } }, { "isoform_ac": "C9JWX4-1", "url": "", "sequence": { "sequence": "MPGVIPSESNGLSRGSPSKKNRLSLKFFQKKETKRALDFTDSQENEEKASEYRASEIDQVVPAAQSSPINCEKRENLLPFVGLNNLG", "length": 87, "header": "tr|C9JWX4-1|UBP1_HUMAN Computationally mapped isoform of Ubiquitin carboxyl-terminal hydrolase 1 OS=Homo sapiens OX=9606 GN=USP1 PE=1 SV=1 CANONICAL=O94782-1" }, "locus": { "chromosome": "1", "start_pos": 62441578, "end_pos": 62439868, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000442679.5", "url": "https://www.ensembl.org/id/ENST00000442679.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000387986.1", "url": "https://www.ensembl.org/id/ENSP00000387986.1" } ] } }, { "isoform_ac": "O94782-1", "url": "", "sequence": { "sequence": "MPGVIPSESNGLSRGSPSKKNRLSLKFFQKKETKRALDFTDSQENEEKASEYRASEIDQVVPAAQSSPINCEKRENLLPFVGLNNLGNTCYLNSILQVLYFCPGFKSGVKHLFNIISRKKEALKDEANQKDKGNCKEDSLASYELICSLQSLIISVEQLQASFLLNPEKYTDELATQPRRLLNTLRELNPMYEGYLQHDAQEVLQCILGNIQETCQLLKKEEVKNVAELPTKVEEIPHPKEEMNGINSIEMDSMRHSEDFKEKLPKGNGKRKSDTEFGNMKKKVKLSKEHQSLEENQRQTRSKRKATSDTLESPPKIIPKYISENESPRPSQKKSRVKINWLKSATKQPSILSKFCSLGKITTNQGVKGQSKENECDPEEDLGKCESDNTTNGCGLESPGNTVTPVNVNEVKPINKGEEQIGFELVEKLFQGQLVLRTRCLECESLTERREDFQDISVPVQEDELSKVEESSEISPEPKTEMKTLRWAISQFASVERIVGEDKYFCENCHHYTEAERSLLFDKMPEVITIHLKCFAASGLEFDCYGGGLSKINTPLLTPLKLSLEEWSTKPTNDSYGLFAVVMHSGITISSGHYTASVKVTDLNSLELDKGNFVVDQMCEIGKPEPLNEEEARGVVENYNDEEVSIRVGGNTQPSKVLNKKNVEAIGLLGGQKSKADYELYNKASNPDKVASTAFAENRNSETSDTTGTHESDRNKESSDQTGINISGFENKISYVVQSLKEYEGKWLLFDDSEVKVTEEKDFLNSLSPSTSPTSTPYLLFYKKL", "length": 785, "header": "sp|O94782-1|UBP1_HUMAN Isoform 1 of Ubiquitin carboxyl-terminal hydrolase 1 OS=Homo sapiens OX=9606 GN=USP1 PE=1 SV=1 CANONICAL=O94782-1" }, "locus": { "chromosome": "1", "start_pos": 62450978, "end_pos": 62439868, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000371146.5", "url": "https://www.ensembl.org/id/ENST00000371146.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000360188.1", "url": "https://www.ensembl.org/id/ENSP00000360188.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O94782", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94782" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 13, "end_pos": 13, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94782", "url": 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"http://research.bioinformatics.udel.edu/iptmnet/entry/O94782" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser248" }, { "start_pos": 313, "end_pos": 313, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O94782", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94782" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O94782", "url": "http://phospho.elm.eu.org/byAccession/O94782.html" }, { "database": "PubMed", "id": "23116119", "url": "https://glygen.org/publication/PubMed/23116119" }, { "database": "PubMed", "id": "25744535", "url": "https://glygen.org/publication/PubMed/25744535" } ], "site_lbl": "Ser313" }, { "start_pos": 331, "end_pos": 331, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94782", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94782" }, { "database": "PubMed", "id": "31086816", "url": "https://glygen.org/publication/PubMed/31086816" } ], "site_lbl": "Ser331" }, { "start_pos": 42, "end_pos": 42, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" }, { "database": "iPTMnet", "id": "O94782", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94782" }, { "database": "phospho.ELM", "id": "O94782", "url": "http://phospho.elm.eu.org/byAccession/O94782.html" }, { "database": "PubMed", "id": "23116119", "url": "https://glygen.org/publication/PubMed/23116119" }, { "database": "PubMed", "id": "31086816", "url": "https://glygen.org/publication/PubMed/31086816" } ], "site_lbl": "Ser42" }, { "start_pos": 475, "end_pos": 475, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "O94782", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94782" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser475" }, { "start_pos": 529, "end_pos": 529, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94782", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94782" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr529" }, { "start_pos": 67, "end_pos": 67, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O94782", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94782" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "phospho.ELM", "id": "O94782", "url": "http://phospho.elm.eu.org/byAccession/O94782.html" }, { "database": "PubMed", "id": "23116119", "url": "https://glygen.org/publication/PubMed/23116119" } ], "site_lbl": "Ser67" }, { "start_pos": 768, "end_pos": 768, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" }, { "database": "iPTMnet", "id": "O94782", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94782" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser768" }, { "start_pos": 770, "end_pos": 770, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94782", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94782" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser770" }, { "start_pos": 772, "end_pos": 772, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94782", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94782" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser772" }, { "start_pos": 774, "end_pos": 774, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94782", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94782" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr774" }, { "start_pos": 775, "end_pos": 775, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94782", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94782" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser775" }, { "start_pos": 7, "end_pos": 7, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94782", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94782" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser7" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.", "journal": "Genome Res.", "date": "2001", "authors": "Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H, Lauber J, Dusterhoft A, Beyer A, Kohrer K, Strack N, Mewes HW, Ottenwalder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" } ], "reference": [ { "type": "PubMed", "id": "11230166", "url": "https://glygen.org/publication/PubMed/11230166" } ] }, { "title": "Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway.", "journal": "Molecular cell", "date": "2001", "authors": "Garcia-Higuera I, Taniguchi T, Ganesan S, Meyn MS, Timmers C, Hejna J, Grompe M, D'Andrea AD", "evidence": [ { "database": "Reactome", "id": "R-HSA-6783310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6783310" } ], "reference": [ { "type": "PubMed", "id": "11239454", "url": "https://glygen.org/publication/PubMed/11239454" } ] }, { "title": "RAD6-dependent DNA repair is linked to modification of PCNA by ubiquitin and SUMO.", "journal": "Nature", "date": "2002", "authors": "Hoege C, Pfander B, Moldovan GL, Pyrowolakis G, Jentsch S", "evidence": [ { "database": "Reactome", "id": "R-HSA-110314", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110314" } ], "reference": [ { "type": "PubMed", "id": "12226657", "url": "https://glygen.org/publication/PubMed/12226657" } ] }, { "title": "DNA cross-link repair protein SNM1A interacts with PIAS1 in nuclear focus formation.", "journal": "Molecular and cellular biology", "date": "2004", "authors": "Ishiai M, Kimura M, Namikoshi K, Yamazoe M, Yamamoto K, Arakawa H, Agematsu K, Matsushita N, Takeda S, Buerstedde JM, Takata M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6783310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6783310" } ], "reference": [ { "type": "PubMed", "id": "15572677", "url": "https://glygen.org/publication/PubMed/15572677" } ] }, { "title": "The deubiquitinating enzyme USP1 regulates the Fanconi anemia pathway.", "journal": "Molecular cell", "date": "2005", "authors": "Nijman SM, Huang TT, Dirac AM, Brummelkamp TR, Kerkhoven RM, D'Andrea AD, Bernards R", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" }, { "database": "RefSeq", "id": "NP_001017415", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017415" } ], "reference": [ { "type": "PubMed", "id": "15694335", "url": "https://glygen.org/publication/PubMed/15694335" } ] }, { "title": "Trading places: how do DNA polymerases switch during translesion DNA synthesis?", "journal": "Molecular cell", "date": "2005", "authors": "Friedberg EC, Lehmann AR, Fuchs RP", "evidence": [ { "database": "Reactome", "id": "R-HSA-110314", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110314" } ], "reference": [ { "type": "PubMed", "id": "15916957", "url": "https://glygen.org/publication/PubMed/15916957" } ] }, { "title": "Regulation of monoubiquitinated PCNA by DUB autocleavage.", "journal": "Nature cell biology", "date": "2006", "authors": "Huang TT, Nijman SM, Mirchandani KD, Galardy PJ, Cohn MA, Haas W, Gygi SP, Ploegh HL, Bernards R, D'Andrea AD", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" }, { "database": "Reactome", "id": "R-HSA-110314", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110314" } ], "reference": [ { "type": "PubMed", "id": "16531995", "url": "https://glygen.org/publication/PubMed/16531995" } ] }, { "title": "UBE2T is the E2 in the Fanconi anemia pathway and undergoes negative autoregulation.", "journal": "Molecular cell", "date": "2006", "authors": "Machida YJ, Machida Y, Chen Y, Gurtan AM, Kupfer GM, D'Andrea AD, Dutta A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6783310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6783310" } ], "reference": [ { "type": "PubMed", "id": "16916645", "url": "https://glygen.org/publication/PubMed/16916645" } ] }, { "title": "Phosphorylation of FANCD2 on two novel sites is required for mitomycin C resistance.", "journal": "Molecular and cellular biology", "date": "2006", "authors": "Ho GP, Margossian S, Taniguchi T, 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"Serine phosphorylation is critical for the activation of ubiquitin-specific protease 1 and its interaction with WD40-repeat protein UAF1.", "journal": "Biochemistry", "date": "2012", "authors": "Villamil MA, Liang Q, Chen J, Choi YS, Hou S, Lee KH, Zhuang Z", "evidence": [ { "database": "iPTMnet", "id": "O94782", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94782" } ], "reference": [ { "type": "PubMed", "id": "23116119", "url": "https://glygen.org/publication/PubMed/23116119" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" }, { "database": "iPTMnet", "id": "O94782", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94782" } ], "reference": [ { "type": 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role of Ser313 phosphorylation site and the effect of cancer-associated mutations on autocleavage.", "journal": "Molecular cancer", "date": "2015", "authors": "Olazabal-Herrero A, Garcia-Santisteban I, Rodriguez JA", "evidence": [ { "database": "iPTMnet", "id": "O94782", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94782" } ], "reference": [ { "type": "PubMed", "id": "25744535", "url": "https://glygen.org/publication/PubMed/25744535" } ] }, { "title": "Structural Insights into WD-Repeat 48 Activation of Ubiquitin-Specific Protease 46.", "journal": "Structure (London, England : 1993)", "date": "2015", "authors": "Yin J, Schoeffler AJ, Wickliffe K, Newton K, Starovasnik MA, Dueber EC, Harris SF", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" } ], "reference": [ { "type": "PubMed", "id": "26388029", "url": "https://glygen.org/publication/PubMed/26388029" } ] }, { "title": "C-Terminal End-Directed Protein Elimination by CRL2 Ubiquitin Ligases.", "journal": "Molecular cell", "date": "2018", "authors": "Lin HC, Yeh CW, Chen YF, Lee TT, Hsieh PY, Rusnac DV, Lin SY, Elledge SJ, Zheng N, Yen HS", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" } ], "reference": [ { "type": "PubMed", "id": "29775578", "url": "https://glygen.org/publication/PubMed/29775578" } ] }, { "title": "Recognition of the Diglycine C-End Degron by CRL2(KLHDC2) Ubiquitin Ligase.", "journal": "Molecular cell", "date": "2018", "authors": "Rusnac DV, Lin HC, Canzani D, Tien KX, Hinds TR, Tsue AF, Bush MF, Yen HS, Zheng N", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" } ], "reference": [ { "type": "PubMed", "id": "30526872", "url": "https://glygen.org/publication/PubMed/30526872" } ] }, { "title": "USP1 links platinum resistance to cancer cell dissemination by regulating Snail stability.", "journal": "Science advances", "date": "2019", "authors": "Sonego M, Pellarin I, Costa A, Vinciguerra GLR, Coan M, Kraut A, D'Andrea S, Dall'Acqua A, Castillo-Tong DC, Califano D, Losito S, Spizzo R, Coute Y, Vecchione A, Belletti B, Schiappacassi M, Baldassarre G", "evidence": [ { "database": "iPTMnet", "id": "O94782", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94782" } ], "reference": [ { "type": "PubMed", "id": "31086816", "url": "https://glygen.org/publication/PubMed/31086816" } ] }, { "title": "USP1 promotes the aerobic glycolysis and progression of T-cell acute lymphoblastic leukemia via PLK1/LDHA axis.", "journal": "Blood advances", "date": "2023-07-11", "authors": "Liu Shuguang, Xiang Yuening, Wang Boshi, Gao Chao, Chen Zhenping, Xie Shao, Wu Jing, Liu Yi, Zhao Xiaoxi, Yang Chao, Yue Zhixia, Wang Linya, Wen Xiaojia, Zhang Ruidong, Zhang Feng, Xu Heng, Zhai Xiaowen, Zheng Huyong, Zhang Hui, Qian Maoxiang", "evidence": [ { "database": "RefSeq", "id": "NP_001017415", "url": 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and Facilitates Antiviral Responses.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2024-01-15", "authors": "Yu Zhongxia, Tong Li, Ma Chenkai, Song Hui, Wang Jie, Chai Li, Wang Caiwei, Wang Mengge, Wang Chunying, Yan Rongzhen, Fu Yue, Jia Mutian, Zhao Wei, Zhao Chunyuan", "evidence": [ { "database": "RefSeq", "id": "NP_001017415", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017415" } ], "reference": [ { "type": "PubMed", "id": "38054892", "url": "https://glygen.org/publication/PubMed/38054892" } ] }, { "title": "Identification and chromosomal assignment of USP1, a novel gene encoding a human ubiquitin-specific protease.", "journal": "Genomics", "date": "1998", "authors": "Fujiwara T, Saito A, Suzuki M, Shinomiya H, Suzuki T, Takahashi E, Tanigami A, Ichiyama A, Chung CH, Nakamura Y, Tanaka K", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" } ], "reference": [ { "type": "PubMed", "id": "9806842", 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"length": 1078 }, "evidence": [ { "id": "O94782", "url": "https://omabrowser.org/oma/group/O94782/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 9, "go_terms": [ { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" } ], "pmid": "" }, { "name": "protein deubiquitination", "id": "GO:0016579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016579", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" } ], "pmid": "" }, { "name": "response to UV", "id": "GO:0009411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009411", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" } ], "pmid": "" }, { "name": "positive regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046427", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" } ], "pmid": "" }, { "name": "monoubiquitinated protein deubiquitination", "id": "GO:0035520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035520", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" } ], "pmid": "" }, { "name": "regulation of DNA repair", "id": "GO:0006282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006282", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" } ], "pmid": "" }, { "name": "positive regulation of error-prone translesion synthesis", "id": "GO:1904333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904333", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase activity", "id": "GO:0004197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004197", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" } ], "pmid": "" }, { "name": "cysteine-type deubiquitinase activity", "id": "GO:0004843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004843", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 325, "end_pos": 327, "annotation": "n_glycosylation_sequon" }, { "start_pos": 389, "end_pos": 391, "annotation": "n_glycosylation_sequon" }, { "start_pos": 573, "end_pos": 575, "annotation": "n_glycosylation_sequon" }, { "start_pos": 725, "end_pos": 727, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Autocatalytic cleavage of USP1 following UV irradiation inactivates it, leading to an increase in ubiquitinated PCNA, recruitment of POLH and translesion synthesis.", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" }, { "database": "PubMed", "id": "16531995", "url": "https://glygen.org/publication/PubMed/16531995" }, { "database": "PubMed", "id": "15694335", "url": "https://glygen.org/publication/PubMed/15694335" } ] }, { "annotation": "Ubiquitinated by the CRL2(KLHDC2) complex following autocatalytic cleavage, leading to its degradation: the CRL2(KLHDC2) complex recognizes the diglycine (Gly-Gly) at the C-terminus.", "evidence": [ { "database": "UniProtKB", "id": "O94782", "url": "https://www.uniprot.org/uniprot/O94782" }, { "database": "PubMed", "id": "30526872", "url": "https://glygen.org/publication/PubMed/30526872" }, { "database": "PubMed", "id": "29775578", "url": "https://glygen.org/publication/PubMed/29775578" } ] } ], "interactions": [], "reactions": [ { "id": "R-HSA-5655466", "name": "USP1:WDR48 deubiquitinates monoUb:K164-PCNA", "equation": "", "summary": "Deubiquitinating enzyme USP1, bound to its accessory protein WDR48 (UAF1), deubiquitinates PCNA (MonoUb:K164-PCNA), thus preventing excessive activation of DNA translesion synthesis (TLS) (Huang et al. 2006).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O94782-1" ], "evidence": [ { "id": "R-HSA-5655466", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655466" } ] }, { "id": "R-HSA-5655481", "name": "USP1:WDR48 binds monoUb:K164-PCNA", "equation": "", "summary": "Ubiquitin protease complex composed of deubiquitinating enzyme USP1 and its accessory factor WDR48 (UAF1) binds monoubiquitinated PCNA (MonoUb:K164-PCNA) (Huang et al. 2006).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O94782-1" ], "evidence": [ { "id": "R-HSA-5655481", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655481" } ] }, { "id": "R-HSA-5655483", "name": "USP1 autocleavage", "equation": "", "summary": "UV radiation, through an unknown mechanism, triggers USP1 autocleavage immediately after a conserved Gly-Gly motif. The products of USP1 autocleavage are targeted for proteasome-mediated degradation, thus preventing the activity of USP1:WDR48 (USP1:UAF1) deubiquitinase complex and allowing for monoubiquitinated PCNA to accumulate and stimulate translesion DNA synthesis (TLS) (Huang et al. 2006).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O94782-1" ], "evidence": [ { "id": "R-HSA-5655483", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655483" } ] }, { "id": "R-HSA-6785732", "name": "DNA nucleases bind monoubiquitinated ID2 complex", "equation": "", "summary": "Several DNA nucleases bind to interstrand crosslinks (ICL-DNA) and participate in ICL \\unhooking\\. The ubiquitin-binding zinc finger (UBZ) domain of the DNA nuclease FAN1 binds to monoubiquitinated FANCD2, enabling the recruitment of FAN1 to the ICL-DNA repair site (Liu et al. 2010, MacKay et al. 2010, Smogorzewska et al. 2010, Kratz et al. 2010). Once recruited to ICL-DNA, FAN1 forms head-to-tail homodimers. Homodimerization is important for the endonucleolytic activity of FAN1 (Zhao et al. 2014). SLX4 (FANCP) serves as a docking platform for recruitment of SLX1A, MUS81 and EME1 or EME2, resulting in formation of the SLX1A:SLX4:MUS81:EME1 (or SLX1A:SLX4:MUS81:EME2) endonucleolytic complex (Fekairi et al. 2009, Wyatt et al. 2013). SLX4 can also bind the endonucleolytic complex composed of ERCC1 and ERCC4 (XPF) (Fekairi et al. 2009). SLX4 is recruited to ICL-DNA through interaction of the UBZ domain of SLX4 with monoubiquitinated FANCD2 (Yamamoto et al. 2011). Targeted deletion of the UBZ domain of SLX4 confers sensitivity to ICL-inducing agents, but the UBZ domain seems to be dispensable for the role of SLX4 in homologous recombination repair (Yamamoto et al. 2011).

DNA exonucleases DCLRE1A (SNM1A) and DCLRE1B (SNM1B) likely function redundantly in ICL repair. Similar to FAN1, they are able to digest the DNA past the ICL, thereby unhooking one of the DNA strands (Wang et al. 2011, Sengerova et al. 2012). Monoubiquitination of the PCNA subunit of the stalled replicative polymerase complex by RAD18 may provide the docking site for DCLRE1A (or DCLRE1B) (Yang et al. 2010). In addition, PIAS1 may facilitate loading of DCLRE1A (or DCLRE1B) to ICL sites (Ishiai et al. 2004).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q6PJP8-1", "Q92889-1", "Q9NW38-1", "Q9BQ83-1", "Q96AY2-1", "Q96NY9-1", "Q9H816-1", "A4GXA9-1", "Q8IYD8-1", "Q9Y2M0-1", "O94782-1" ], "evidence": [ { "id": "R-HSA-6785732", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785732" } ] }, { "id": "R-HSA-6786171", "name": "FANCD2 deubiquitination by USP1:WDR48", "equation": "", "summary": "The FA pathway is negatively regulated through the USP1:WDR48-mediated deubiquitination of FANCD2 (Nijman et al. 2005). WDR48 (UAF1) forms a complex with and activates USP1 (Cohn et al. 2007).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9NW38-1", "Q8IYD8-1", "O94782-1" ], "evidence": [ { "id": "R-HSA-6786171", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6786171" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A4GXA9", "gene_name": "EME2", "activity": [ { "ec_number": "3.1.22.-", "activity": "", "evidence": [ { "id": "A4GXA9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A4GXA9" } ] } ] }, { "uniprot_ac": "O94782", "gene_name": "USP1", "activity": [ { "ec_number": "3.4.19.12", "activity": "Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).", "evidence": [ { "id": "O94782", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94782" } ] }, { "ec_number": "3.4.19.12", "activity": "", "evidence": [ { "id": "O94782", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94782" } ] } ] }, { "uniprot_ac": "Q6PJP8", "gene_name": "DCLRE1A", "activity": [ { "ec_number": "3.5.2.6", "activity": "a beta-lactam + H2O = a substituted beta-amino acid.", "evidence": [ { "id": "Q6PJP8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6PJP8" } ] } ] }, { "uniprot_ac": "Q8IYD8", "gene_name": "FANCM", "activity": [ { "ec_number": "3.6.4.13", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "Q8IYD8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IYD8" } ] }, { "ec_number": "3.6.4.13", "activity": "", "evidence": [ { "id": "Q8IYD8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IYD8" } ] } ] }, { "uniprot_ac": "Q92889", "gene_name": "ERCC4", "activity": [ { "ec_number": "3.1.-.-", "activity": "", "evidence": [ { "id": "Q92889", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92889" } ] } ] }, { "uniprot_ac": "Q96AY2", "gene_name": "EME1", "activity": [ { "ec_number": "3.1.22.-", "activity": "", "evidence": [ { "id": "Q96AY2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96AY2" } ] } ] }, { "uniprot_ac": "Q96NY9", "gene_name": "MUS81", "activity": [ { "ec_number": "3.1.22.-", "activity": "", "evidence": [ { "id": "Q96NY9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96NY9" } ] } ] }, { "uniprot_ac": "Q9BQ83", "gene_name": "SLX1A", "activity": [ { "ec_number": "3.1.-.-", "activity": "", "evidence": [ { "id": "Q9BQ83", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BQ83" } ] } ] }, { "uniprot_ac": "Q9H816", "gene_name": "DCLRE1B", "activity": [ { "ec_number": "3.1.-.-", "activity": "", "evidence": [ { "id": "Q9H816", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H816" } ] }, { "ec_number": "3.5.2.6", "activity": "a beta-lactam + H2O = a substituted beta-amino acid.", "evidence": [ { "id": "Q9H816", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H816" } ] }, { "ec_number": "3.5.2.6", "activity": "", "evidence": [ { "id": "Q9H816", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H816" } ] } ] }, { "uniprot_ac": "Q9NW38", "gene_name": "FANCL", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q9NW38", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NW38" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q9NW38", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NW38" } ] } ] }, { "uniprot_ac": "Q9Y2M0", "gene_name": "FAN1", "activity": [ { "ec_number": "3.1.4.1", "activity": "Hydrolytically removes 5'-nucleotides successively from the 3'-hydroxy termini of 3'-hydroxy-terminated oligonucleotides.", "evidence": [ { "id": "Q9Y2M0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2M0" } ] }, { "ec_number": "3.1.4.1", "activity": "", "evidence": [ { "id": "Q9Y2M0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2M0" } ] }, { "ec_number": "3.1.21.-", "activity": "", "evidence": [ { "id": "Q9Y2M0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2M0" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 7, 13, 16, 42, 67, 248, 313, 331, 475, 529, 768, 770, 772, 774, 775 ], "sequon_annotation_sites": [ { "start_pos": 325, "end_pos": 327 }, { "start_pos": 389, "end_pos": 391 }, { "start_pos": 573, "end_pos": 575 }, { "start_pos": 725, "end_pos": 727 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": 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"journal", "date", "authors" ] } ] }