{ "uniprot_canonical_ac": "O76075-1", "uniprot_ac": "O76075", "uniprot_id": "DFFB_HUMAN", "mass": { "chemical_mass": 39110.0, "monoisotopic_mass": 39110.0 }, "refseq": { "ac": "NP_001307061", "name": "DNA fragmentation factor subunit beta isoform 4", "summary": "Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some of these variants has not been determined. [provided by RefSeq, Sep 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307061" }, "gene_names": [ { "name": "DFFB", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O76075", "id": "O76075" }, { "name": "CAD; CPAN; DFF-40; DFF2; DFF40", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307061", "id": "NP_001307061" }, { "name": "CAD", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O76075", "id": "O76075" }, { "name": "DFF2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O76075", "id": "O76075" }, { "name": "DFF40", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O76075", "id": "O76075" }, { "name": "DFFB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307061", "id": "NP_001307061" }, { "name": "hCG_31570", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O76075", "id": "O76075" } ], "protein_names": [ { "name": "DNA fragmentation factor subunit beta", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O76075" }, { "name": "3.-.-.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O76075" }, { "name": "CAD", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O76075" }, { "name": "CPAN", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O76075" }, { "name": "Caspase-activated DNase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O76075" }, { "name": "Caspase-activated deoxyribonuclease", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O76075" }, { "name": "Caspase-activated nuclease", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O76075" }, { "name": "DFF-40", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O76075" }, { "name": "DNA fragmentation factor 40 kDa subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O76075" }, { "name": "DNA fragmentation factor subunit beta isoform 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307061", "id": "NP_001307061" }, { "name": "caspase-activated nuclease; caspase-activated deoxyribonuclease; caspase-activated DNase; DNA fragmentation factor 40 kDa subunit; DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307061", "id": "NP_001307061" } ], "function": [ { "annotation": "Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some of these variants has not been determined. [provided by RefSeq, Sep 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001307061", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307061" } ] }, { "annotation": "DFF40 deficiency in cancerous T cells is implicated in chemotherapy drug sensitivity and resistance through the regulation of the apoptotic pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_001307061", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307061" }, { "database": "PubMed", "id": "34678222", "url": "https://glygen.org/publication/PubMed/34678222" } ] }, { "annotation": "MEG3 Regulates CSE-Induced Apoptosis by Regulating miR-421/DFFB Signal Axis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001307061", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307061" }, { "database": "PubMed", "id": "37215747", "url": "https://glygen.org/publication/PubMed/37215747" } ] }, { "annotation": "Nuclease that induces DNA fragmentation and chromatin condensation during apoptosis. Degrades naked DNA and induces apoptotic morphology.", "evidence": [ { "database": "UniProtKB", "id": "O76075", "url": "https://www.uniprot.org/uniprot/O76075#function" } ] }, { "annotation": "Spontaneous activity of the mitochondrial apoptosis pathway drives chromosomal defects, the appearance of micronuclei and cancer metastasis through the Caspase-Activated DNAse. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001307061", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307061" }, { "database": "PubMed", "id": "35393399", "url": "https://glygen.org/publication/PubMed/35393399" } ] }, { "annotation": "The Nexus of cfDNA and Nuclease Biology. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001307061", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307061" }, { "database": "PubMed", "id": "34006390", "url": "https://glygen.org/publication/PubMed/34006390" } ] }, { "annotation": "The role of the DFF40/CAD endonuclease in genomic stability. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001307061", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307061" }, { "database": "PubMed", "id": "33387146", "url": "https://glygen.org/publication/PubMed/33387146" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "63.49", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169598", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169598" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "58.39", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169598", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169598" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "64.4", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169598", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169598" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000169598", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169598" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "77.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169598", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169598" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "77.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169598", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169598" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000169598", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169598" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "71.32", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169598", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169598" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "76.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169598", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169598" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000169598", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169598" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "65.68", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169598", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169598" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "76.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169598", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169598" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "74.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169598", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169598" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O76075", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O76075" } ], "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 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"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", 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"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", 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"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": "" 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"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", 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"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 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"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, 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"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", 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"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": "" 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"name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O76075", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O76075" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O76075", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O76075" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, 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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": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O76075", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O76075" } ], "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/O76075" } ], "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": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O76075", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O76075" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"sequence": { "sequence": "MLQKPKSVKLRALRSPRKFGVAGRSCQEVLRKGCLRFQLPERGSRLCLYEDGTELTEDYFPSVPDNAELVLLTLGQAWQGYVSDIRRFLSAFHEPQVGLIQAAQQLLCDEQAPQRQRLLADLLHNVSQNIAAETRAEDPPWFEGLESRFQSKSGYLRYSCESRIRSYLREVSSYPSTVGAEAQEEFLRVLGSMCQRLRSMQYNGSYFDRGAKGGSRLCTPEGWFSCQGPFDMDSCLSRHSINPYSNRESRILFSTWNLDHIIEKKRTIIPTLVEAIKEQDGREVDWEYFYGLLFTSENLKLVHIVCHKKTTHKLNCDPSRIYKPQTRLKRKQPVRKRQ", "length": 338, "header": "sp|O76075-1|DFFB_HUMAN Isoform 1 of DNA fragmentation factor subunit beta OS=Homo sapiens OX=9606 GN=DFFB PE=1 SV=1 CANONICAL=O76075-1" }, "isoforms": [ { "isoform_ac": "B4DZS0-1", "url": "", "sequence": { "sequence": "MLQKPKSVKLRALRSPRKFGVAGRSCQEVLRKGCLRFQLPERGSRLCLYEDGTELTEDYFPSVPDNAELVLLTLGQAWQGCEWQGLWRMCLLLDRHLLFVPLVADVSDIRRFLSAFHEPQVGLIQAAQQLLCDEQAPQRQRLLADLLHNVSQNIAAETRAEDPPWFEGLESRFQSKSGYLRYSCESRIRSYLREVSSYPSTVGAEAQEEFLRVLGSMCQRLRSMQYNGSYFDRGAKGGSRLCTPEGWFSCQGPFDMDSCLSRHSINPYSNRESRILFSTWNLDHIIEKKRTIIPTLVEAIKEQDGREVDWEYFYGLLFTSENLKLVHIVCHKKTTHKLNCDPSRIYKPQTRLKRKQPVRKRQ", "length": 362, "header": "tr|B4DZS0-1|B4DZS0_HUMAN Computationally mapped isoform of DNA fragmentation factor subunit beta OS=Homo sapiens OX=9606 GN=DFFB PE=1 SV=1 CANONICAL=O76075-1" }, "locus": { "chromosome": "1", "start_pos": 3883738, "end_pos": 3857604, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000338895.7", "url": "https://www.ensembl.org/id/ENST00000338895.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000339524.4", "url": "https://www.ensembl.org/id/ENSP00000339524.4" } ] } }, { "isoform_ac": "G3XAD0-1", "url": "", "sequence": { "sequence": "MLQKPKSVKLRALRSPRKFGVAGRSCQEVLRKGCLRFQLPERGSRLCLYEDGTELTEDYFPSVPDNAELVLLTLGQAWQGWFRHVSQDSLTLLGSSCPPALVS", "length": 103, "header": "tr|G3XAD0-1|DFFB_HUMAN Computationally mapped isoform of DNA fragmentation factor subunit beta OS=Homo sapiens OX=9606 GN=DFFB PE=1 SV=1 CANONICAL=O76075-1" }, "locus": { "chromosome": "1", "start_pos": 3860487, "end_pos": 3857604, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000477548.5", "url": "https://www.ensembl.org/id/ENST00000477548.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000462175.1", "url": "https://www.ensembl.org/id/ENSP00000462175.1" } ] } }, { "isoform_ac": "J3KT26-1", "url": "", "sequence": { "sequence": "XIEKKRTIIPTLVEAIKEQDGREVDWEYFYGLLFTSENLKLVHIVCHKKTTHKLNCDPSRIYKPQTRLKRKQPVRKRQ", "length": 78, "header": "tr|J3KT26-1|DFFB_HUMAN Computationally mapped isoform of DNA fragmentation factor subunit beta OS=Homo sapiens OX=9606 GN=DFFB PE=1 SV=1 CANONICAL=O76075-1" }, "locus": { "chromosome": "1", "start_pos": 3883740, "end_pos": 3883507, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000461150.1", "url": "https://www.ensembl.org/id/ENST00000461150.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000462770.1", "url": "https://www.ensembl.org/id/ENSP00000462770.1" } ] } }, { "isoform_ac": "O76075-1", "url": "", "sequence": { "sequence": "MLQKPKSVKLRALRSPRKFGVAGRSCQEVLRKGCLRFQLPERGSRLCLYEDGTELTEDYFPSVPDNAELVLLTLGQAWQGYVSDIRRFLSAFHEPQVGLIQAAQQLLCDEQAPQRQRLLADLLHNVSQNIAAETRAEDPPWFEGLESRFQSKSGYLRYSCESRIRSYLREVSSYPSTVGAEAQEEFLRVLGSMCQRLRSMQYNGSYFDRGAKGGSRLCTPEGWFSCQGPFDMDSCLSRHSINPYSNRESRILFSTWNLDHIIEKKRTIIPTLVEAIKEQDGREVDWEYFYGLLFTSENLKLVHIVCHKKTTHKLNCDPSRIYKPQTRLKRKQPVRKRQ", "length": 338, "header": "sp|O76075-1|DFFB_HUMAN Isoform 1 of DNA fragmentation factor subunit beta OS=Homo sapiens OX=9606 GN=DFFB PE=1 SV=1 CANONICAL=O76075-1" }, "locus": { "chromosome": "1", "start_pos": 3883738, "end_pos": 3857604, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000378209.8", "url": "https://www.ensembl.org/id/ENST00000378209.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000367454.4", "url": "https://www.ensembl.org/id/ENSP00000367454.4" } ] } }, { "isoform_ac": "O76075-2", "url": "", "sequence": { "sequence": "MLQKPKSVKLRALRSPRKFGVAGRSCQEVLRKGCLRFQLPERGSRLCLYEDGTELTEDYFPSVPDNAELVLLTLGQAWQGYVSDIRRFLSAFHEPQVGLIQAAQQLLCDEQAPQRQRLLADLLHNVSQNIAAETRAEDPPWFEGLESRFQSKSGYLRYSCESRIRSYLREVSSYPSTVGAEAQEEFLRVLGSMCQRLRSMQYNGSYFDRGAKGGSRLCTPEGWFSCQGPFDMDSCLSRHSINPYSNRESRILFSTWNLDHIDGVLLCGPG", "length": 270, "header": "sp|O76075-2|DFFB_HUMAN Isoform 2 of DNA fragmentation factor subunit beta OS=Homo sapiens OX=9606 GN=DFFB PE=1 SV=1 CANONICAL=O76075-1" }, "locus": { "chromosome": "1", "start_pos": 3873041, "end_pos": 3857604, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000491998.5", "url": "https://www.ensembl.org/id/ENST00000491998.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000436775.1", "url": "https://www.ensembl.org/id/ENSP00000436775.1" } ] } }, { "isoform_ac": "O76075-3", "url": "", "sequence": { "sequence": "MLQKPKSVKLRALRSPRKFGVAGRSCQEVLRKGCLRFQLPERGSRLCLYEDGTELTEDYFPSVPDNAELVLLTLGQAWQGSVGVRARTKTRDTSSLSPGDCQALGNGGRCGQRLFL", "length": 116, "header": "sp|O76075-3|DFFB_HUMAN Isoform 3 of DNA fragmentation factor subunit beta OS=Homo sapiens OX=9606 GN=DFFB PE=1 SV=1 CANONICAL=O76075-1" }, "locus": { "chromosome": "1", "start_pos": 3865749, "end_pos": 3857604, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000339350.7", "url": "https://www.ensembl.org/id/ENST00000339350.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000343218.3", "url": "https://www.ensembl.org/id/ENSP00000343218.3" } ] } }, { "isoform_ac": "O76075-4", "url": "", "sequence": { "sequence": "MLQKPKSVKLRALRSPRKFGVAGRSCQEVLRKGCLRFQLPERGSRLCLYEDGTELTEDYFPSVPDNAELVLLTLGQAWQGWFCHVSQDSLTLLGSSCPPALVS", "length": 103, "header": "sp|O76075-4|DFFB_HUMAN Isoform 4 of DNA fragmentation factor subunit beta OS=Homo sapiens OX=9606 GN=DFFB PE=1 SV=1 CANONICAL=O76075-1" }, "locus": {} }, { "isoform_ac": "Q96P72-1", "url": "", "sequence": { "sequence": "MLQKPKSVKLRALRSPRKFGVAGRSCQEVLRKGCLRFQLPERGSRLCLYEDGTELTEDYFPSVPDNAELVLLTLGQAWQG", "length": 80, "header": "tr|Q96P72-1|Q96P72_HUMAN Computationally mapped isoform of DNAation factor B truncated form III OS=Homo sapiens OX=9606 GN=DFFB PE=1 SV=1 CANONICAL=O76075-1" }, "locus": { "chromosome": "1", "start_pos": 3858844, "end_pos": 3857604, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000378206.5", "url": "https://www.ensembl.org/id/ENST00000378206.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000367448.1", "url": "https://www.ensembl.org/id/ENSP00000367448.1" } ] } }, { "isoform_ac": "Q96P73-1", "url": "", "sequence": { "sequence": "MLQKPKSVKLRALRSPRKFGVAGRSCQEVLRKGCLRFQLPERGSRLCLYEDGTELTEDYFPSVPDNAELVLLTLGQAWQGCEWQGLWRCERHQALPQCISRATGGAHPGRPAAAV", "length": 115, "header": "tr|Q96P73-1|Q96P73_HUMAN Computationally mapped isoform of DNAation factor, 40kDa, beta polypeptide (Caspase-activated DNase), isoform CRA_d OS=Homo sapiens OX=9606 GN=DFFB PE=1 SV=1 CANONICAL=O76075-1" }, "locus": { "chromosome": "1", "start_pos": 3865893, "end_pos": 3857604, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000475969.5", "url": "https://www.ensembl.org/id/ENST00000475969.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000463704.1", "url": "https://www.ensembl.org/id/ENSP00000463704.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Activation of the apoptotic endonuclease DFF40 (caspase-activated DNase or nuclease). Oligomerization and direct interaction with histone H1.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Liu X, Zou H, Widlak P, Garrard W, Wang X", "evidence": [ { "database": "Reactome", "id": "R-HSA-140342", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140342" } ], "reference": [ { "type": "PubMed", "id": "10318789", "url": "https://glygen.org/publication/PubMed/10318789" } ] }, { "title": "Cleavage preferences of the apoptotic endonuclease DFF40 (caspase-activated DNase or nuclease) on naked DNA and chromatin substrates.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Widlak P, Li P, Wang X, Garrard WT", "evidence": [ { "database": "Reactome", "id": "R-HSA-140342", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140342" } ], "reference": [ { "type": "PubMed", "id": "10713148", "url": "https://glygen.org/publication/PubMed/10713148" } ] }, { "title": "Structure and mutation analysis of the gene encoding DNA fragmentation factor 40 (caspase-activated nuclease), a candidate neuroblastoma tumour suppressor gene.", "journal": "Hum. Genet.", "date": "2000", "authors": "Judson H, van Roy N, Strain L, Vandesompele J, Van Gele M, Speleman F, Bonthron D T", "evidence": [ { "database": "UniProtKB", "id": "O76075", "url": "https://www.uniprot.org/uniprot/O76075" } ], "reference": [ { "type": "PubMed", "id": "10830907", "url": "https://glygen.org/publication/PubMed/10830907" } ] }, { "title": "Solution structure of DFF40 and DFF45 N-terminal domain complex and mutual chaperone activity of DFF40 and DFF45.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2001", "authors": "Zhou P, Lugovskoy AA, McCarty JS, Li P, Wagner G", "evidence": [ { "database": "UniProtKB", "id": "O76075", "url": "https://www.uniprot.org/uniprot/O76075" } ], "reference": [ { "type": "PubMed", "id": "11371636", "url": "https://glygen.org/publication/PubMed/11371636" } ] }, { "title": "Subunit structures and stoichiometries of human DNA fragmentation factor proteins before and after induction of apoptosis.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Widlak P, Lanuszewska J, Cary RB, Garrard WT", "evidence": [ { "database": "Reactome", "id": "R-HSA-140342", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140342" } ], "reference": [ { "type": "PubMed", "id": "12748178", "url": "https://glygen.org/publication/PubMed/12748178" } ] }, { "title": "An unappreciated role for RNA surveillance.", "journal": "Genome Biol.", "date": "2004", "authors": "Hillman R Tyler, Green Richard E, Brenner Steven E", "evidence": [ { "database": "UniProtKB", "id": "O76075", "url": "https://www.uniprot.org/uniprot/O76075" } ], "reference": [ { "type": "PubMed", "id": "14759258", "url": "https://glygen.org/publication/PubMed/14759258" } ] }, { "title": "Characterization of splice variants of human caspase-activated DNase with CIDE-N structure and function.", "journal": "FEBS Lett.", "date": "2004", "authors": "Bayascas Jos\u00e9 R, Yuste V\u00edctor J, Sol\u00e9 Carme, S\u00e1nchez-L\u00f3pez Isabel, Segura Miquel F, Perera Remei, Comella Joan X", "evidence": [ { "database": "UniProtKB", "id": "Q96P73", "url": "https://www.uniprot.org/uniprot/Q96P73" } ], "reference": [ { "type": "PubMed", "id": "15147901", "url": "https://glygen.org/publication/PubMed/15147901" } ] }, { "title": "Structural mechanism for inactivation and activation of CAD/DFF40 in the apoptotic pathway.", "journal": "Molecular cell", "date": "2004", "authors": "Woo EJ, Kim YG, Kim MS, Han WD, Shin S, Robinson H, Park SY, Oh BH", "evidence": [ { "database": "Reactome", "id": "R-HSA-140342", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140342" } ], "reference": [ { "type": "PubMed", "id": "15149602", "url": "https://glygen.org/publication/PubMed/15149602" } ] }, { "title": "Nuclear translocation of caspase-3 is dependent on its proteolytic activation and recognition of a substrate-like protein(s).", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Kamada S, Kikkawa U, Tsujimoto Y, Hunter T", "evidence": [ { "database": "Reactome", "id": "R-HSA-140342", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140342" } ], "reference": [ { "type": "PubMed", "id": "15569692", "url": "https://glygen.org/publication/PubMed/15569692" } ] }, { "title": "The histone H1 C-terminal domain binds to the apoptotic nuclease, DNA fragmentation factor (DFF40/CAD) and stimulates DNA cleavage.", "journal": "Biochemistry", "date": "2005", "authors": "Widlak P, Kalinowska M, Parseghian MH, Lu X, Hansen JC, Garrard WT", "evidence": [ { "database": "Reactome", "id": "R-HSA-140342", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140342" } ], "reference": [ { "type": "PubMed", "id": "15910001", "url": "https://glygen.org/publication/PubMed/15910001" } ] }, { "title": "Sequence elements in both subunits of the DNA fragmentation factor are essential for its nuclear transport.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Neimanis S, Albig W, Doenecke D, Kahle J", "evidence": [ { "database": "Reactome", "id": "R-HSA-140342", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140342" } ], "reference": [ { "type": "PubMed", "id": "17938174", "url": "https://glygen.org/publication/PubMed/17938174" } ] }, { "title": "High mobility group proteins stimulate DNA cleavage by apoptotic endonuclease DFF40/CAD due to HMG-box interactions with DNA.", "journal": "Acta biochimica Polonica", "date": "2008", "authors": "Kalinowska-Herok M, Widlak P", "evidence": [ { "database": "Reactome", "id": "R-HSA-140342", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140342" } ], "reference": [ { "type": "PubMed", "id": "18239742", "url": "https://glygen.org/publication/PubMed/18239742" } ] }, { "title": "The major apoptotic endonuclease DFF40/CAD is a deoxyribose-specific and double-strand-specific enzyme.", "journal": "Apoptosis : an international journal on programmed cell death", "date": "2008", "authors": "Hanus J, Kalinowska-Herok M, Widlak P", "evidence": [ { "database": "Reactome", "id": "R-HSA-140342", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140342" } ], "reference": [ { "type": "PubMed", "id": "18283539", "url": "https://glygen.org/publication/PubMed/18283539" } ] }, { "title": "Histone H1 subtype preferences of DFF40 and possible nuclear localization of DFF40/45 in normal and trichostatin A-treated NB4 leukemic cells.", "journal": "Apoptosis", "date": "2010", "authors": "Ninios Yiannis P, Sekeri-Pataryas Kalliope E, Sourlingas Thomae G", "evidence": [ { "database": "UniProtKB", "id": "O76075", "url": "https://www.uniprot.org/uniprot/O76075" } ], "reference": [ { "type": "PubMed", "id": "19882353", "url": "https://glygen.org/publication/PubMed/19882353" } ] }, { "title": "The role of the DFF40/CAD endonuclease in genomic stability.", "journal": "Apoptosis : an international journal on programmed cell death", "date": "2021", "authors": "Kulbay M, Bernier-Parker N, Bernier J", "evidence": [ { "database": "RefSeq", "id": "NP_001307061", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307061" } ], "reference": [ { "type": "PubMed", "id": "33387146", "url": "https://glygen.org/publication/PubMed/33387146" } ] }, { "title": "The Nexus of cfDNA and Nuclease Biology.", "journal": "Trends in genetics : TIG", "date": "2021", "authors": "Han DSC, Lo YMD", "evidence": [ { "database": "RefSeq", "id": "NP_001307061", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307061" } ], "reference": [ { "type": "PubMed", "id": "34006390", "url": "https://glygen.org/publication/PubMed/34006390" } ] }, { "title": "DFF40 deficiency in cancerous T cells is implicated in chemotherapy drug sensitivity and resistance through the regulation of the apoptotic pathway.", "journal": "Biochemical pharmacology", "date": "2021", "authors": "Kulbay M, Johnson B, Fiola S, Diaz RJ, Bernier J", "evidence": [ { "database": "RefSeq", "id": "NP_001307061", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307061" } ], "reference": [ { "type": "PubMed", "id": "34678222", "url": "https://glygen.org/publication/PubMed/34678222" } ] }, { "title": "Spontaneous activity of the mitochondrial apoptosis pathway drives chromosomal defects, the appearance of micronuclei and cancer metastasis through the Caspase-Activated DNAse.", "journal": "Cell death & disease", "date": "2022", "authors": "Haimovici A, Hofer C, Badr MT, Bavafaye Haghighi E, Amer T, Boerries M, Bronsert P, Glavynskyi I, Fanfone D, Ichim G, Thilmany N, Weber A, Brummer T, Spohr C, Ollinger R, Janssen KP, Rad R, Hacker G", "evidence": [ { "database": "RefSeq", "id": "NP_001307061", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307061" } ], "reference": [ { "type": "PubMed", "id": "35393399", "url": "https://glygen.org/publication/PubMed/35393399" } ] }, { "title": "MEG3 Regulates CSE-Induced Apoptosis by Regulating miR-421/DFFB Signal Axis.", "journal": "International journal of chronic obstructive pulmonary disease", "date": "2023", "authors": "Bi Hui, Wang Gui, Li Zhiying, Zhou Lin, Zhang Ming", "evidence": [ { "database": "RefSeq", "id": "NP_001307061", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307061" } ], "reference": [ { "type": "PubMed", "id": "37215747", "url": "https://glygen.org/publication/PubMed/37215747" } ] }, { "title": "DFF, a heterodimeric protein that functions downstream of caspase-3 to trigger DNA fragmentation during apoptosis.", "journal": "Cell", "date": "1997", "authors": "Liu X, Zou H, Slaughter C, Wang X", "evidence": [ { "database": "Reactome", "id": "R-HSA-140342", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140342" } ], "reference": [ { "type": "PubMed", "id": "9108473", "url": "https://glygen.org/publication/PubMed/9108473" } ] }, { "title": "CPAN, a human nuclease regulated by the caspase-sensitive inhibitor DFF45.", "journal": "Curr. Biol.", "date": "1998", "authors": "Halenbeck R, MacDonald H, Roulston A, Chen TT, Conroy L, Williams LT", "evidence": [ { "database": "UniProtKB", "id": "O76075", "url": "https://www.uniprot.org/uniprot/O76075" } ], "reference": [ { "type": "PubMed", "id": "9560346", "url": "https://glygen.org/publication/PubMed/9560346" } ] }, { "title": "The 40-kDa subunit of DNA fragmentation factor induces DNA fragmentation and chromatin condensation during apoptosis.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1998", "authors": "Liu X, Li P, Widlak P, Zou H, Luo X, Garrard WT, Wang X", "evidence": [ { "database": "UniProtKB", "id": "O76075", "url": "https://www.uniprot.org/uniprot/O76075" } ], "reference": [ { "type": "PubMed", "id": "9671700", "url": "https://glygen.org/publication/PubMed/9671700" } ] }, { "title": "Molecular cloning and characterization of human caspase-activated DNase.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1998", "authors": "Mukae N, Enari M, Sakahira H, Fukuda Y, Inazawa J, Toh H, Nagata S", "evidence": [ { "database": "UniProtKB", "id": "O76075", "url": "https://www.uniprot.org/uniprot/O76075" } ], "reference": [ { "type": "PubMed", "id": "9689044", "url": "https://glygen.org/publication/PubMed/9689044" } ] } ], "pathway": [ { "id": "hsa:1677", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1677", "resource": "KEGG Pathway" }, { "id": "R-HSA-140342", "name": "Apoptosis induced DNA fragmentation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140342", "resource": "Reactome", "description": "Apoptosis induced DNA fragmentation" } ], "orthologs": [ { "uniprot_canonical_ac": "O54788-1", "protein_name": "DNA fragmentation factor subunit beta", "gene_name": "Dffb", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MCAVLRQPKCVKLRALHSACKFGVAARSCQELLRKGCVRFQLPMPGSRLCLYEDGTEVTDDCFPGLPNDAELLLLTAGETWHGYVSDITRFLSVFNEPHAGVIQAARQLLSDEQAPLRQKLLADLLHHVSQNITAETREQDPSWFEGLESRFRNKSGYLRYSCESRIRGYLREVSAYTSMVDEAAQEEYLRVLGSMCQKLKSVQYNGSYFDRGAEASSRLCTPEGWFSCQGPFDLESCLSKHSINPYGNRESRILFSTWNLDHIIEKKRTVVPTLAEAIQDGREVNWEYFYSLLFTAENLKLVHIACHKKTTHKLECDRSRIYRPQTGSRRKQPARKKRPARKR", "length": 344 }, "evidence": [ { "id": "45917975", "url": "http://www.informatics.jax.org/homology/45917975", "database": "MGI" }, { "id": "O76075", "url": "https://omabrowser.org/oma/group/O76075/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q99N34-1", "protein_name": "DNA fragmentation factor subunit beta", "gene_name": "Dffb", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MCAVLPQPKCVKLRALHSSCKFGVAARSCQELLRKGCIRFQLPVPGSRLCMYEDGTEVTDDCFPSLPNDSELLLLTAGETWHGYVSDITRLLSVFNEPHAGVIQAARQLLSDEQAPLRQKLLADLLHHVSQNITAETREQDPSWFEGLESRFRNKSGYLRYSCESRIRGYLREVSAYISMVDAAAREEYLRVLSSMCHKLKSVQYNGSYFDRGAEASSRLCTPEGWFSCQGPFDLESCLSKHSINPYGNRESRILFSTWNLDHIIEKKRTVVPTLAEAIQDGREVNWEYFYSLLFTAENLKLVHIACHKKTTHKLQCDRSRIYRPQTGSRRKQPPRKQPPRKRPPRKRQ", "length": 349 }, "evidence": [ { "id": "45917975", "url": "http://www.informatics.jax.org/homology/45917975", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 7, "go_terms": [ { "name": "DNA endonuclease activity", "id": "GO:0004520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004520", "evidence": [ { "database": "UniProtKB", "id": "O76075", "url": "https://www.uniprot.org/uniprot/O76075" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "O76075", "url": "https://www.uniprot.org/uniprot/O76075" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "O76075", "url": "https://www.uniprot.org/uniprot/O76075" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "O76075", "url": "https://www.uniprot.org/uniprot/O76075" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O76075", "url": "https://www.uniprot.org/uniprot/O76075" } ], "pmid": "" }, { "name": "disordered domain specific binding", "id": "GO:0097718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097718", "evidence": [ { "database": "UniProtKB", "id": "O76075", "url": "https://www.uniprot.org/uniprot/O76075" } ], "pmid": "" }, { "name": "DNA nuclease activity", "id": "GO:0004536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004536", "evidence": [ { "database": "UniProtKB", "id": "O76075", "url": "https://www.uniprot.org/uniprot/O76075" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "apoptotic DNA fragmentation", "id": "GO:0006309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006309", "evidence": [ { "database": "UniProtKB", "id": "O76075", "url": "https://www.uniprot.org/uniprot/O76075" } ], "pmid": "" }, { "name": "apoptotic chromosome condensation", "id": "GO:0030263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030263", "evidence": [ { "database": "UniProtKB", "id": "O76075", "url": "https://www.uniprot.org/uniprot/O76075" } ], "pmid": "" }, { "name": "DNA catabolic process", "id": "GO:0006308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006308", "evidence": [ { "database": "UniProtKB", "id": "O76075", "url": "https://www.uniprot.org/uniprot/O76075" } ], "pmid": "" }, { "name": "negative regulation of apoptotic DNA fragmentation", "id": "GO:1902511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902511", "evidence": [ { "database": "UniProtKB", "id": "O76075", "url": "https://www.uniprot.org/uniprot/O76075" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O76075", "url": "https://www.uniprot.org/uniprot/O76075" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O76075", "url": "https://www.uniprot.org/uniprot/O76075" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O76075", "url": "https://www.uniprot.org/uniprot/O76075" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "O76075", "url": "https://www.uniprot.org/uniprot/O76075" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O76075", "url": "https://www.uniprot.org/uniprot/O76075" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "O76075", "url": "https://www.uniprot.org/uniprot/O76075" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O76075", "url": "https://www.uniprot.org/uniprot/O76075" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 125, "end_pos": 127, "annotation": "n_glycosylation_sequon" }, { "start_pos": 203, "end_pos": 205, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-HSA-211186", "name": "Cleavage of DFF45 (224) by caspase-3", "equation": "", "summary": "Caspase-3 cleaves DFF45 between residues 224,225.", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P42574-1", "O76075-1" ], "evidence": [ { "id": "R-HSA-211186", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211186" } ] }, { "id": "R-HSA-211190", "name": "Caspase 3-mediated cleavage of DFF45 (117)", "equation": "", "summary": "Caspase-3 cleaves the DFF45 subunit of the DFF45:DFF40 complex at two sites to generate an active DNA fragmentation factor. One site of cleavage is between residues 117,118 (Liu et al., 1997).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P42574-1", "O76075-1" ], "evidence": [ { "id": "R-HSA-211190", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211190" } ] }, { "id": "R-HSA-211191", "name": "Association of DFF with alpha:beta importin", "equation": "", "summary": "The translocation of the DFF complex from the cytoplasm to the nucleus is mediated by the importin alfa/beta heterodimer. Both DFF40 and DFF45 possess NLS at their C-termini that interact directly with the importin alfa/beta heterodimer. However, DFF complex binds more tightly compared with the individual subunits and C-termini of both subunits are required for DFF nuclear import (Neimanis et al., 2007).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O76075-1" ], "evidence": [ { "id": "R-HSA-211191", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211191" } ] }, { "id": "R-HSA-211193", "name": "Homodimerization of DFF40", "equation": "", "summary": "Following its release from DFF45, DFF40 forms homodimers, which are the basic structures of the enzymatically active nuclease (Woo et al., 2004). Following dimerization, DFF40 can further oligomerize forming units containing at least 4 monomers (Liu et al., 1999; Widlak et al., 2003).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O76075-1" ], "evidence": [ { "id": "R-HSA-211193", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211193" } ] }, { "id": "R-HSA-211206", "name": "Translocation of DFF to the nucleus", "equation": "", "summary": "DFF associated with alpha-importin:beta-importin is translocated to the nucleus (Neimanis et al., 2007)", "cellular_location": "nuclear envelope", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O76075-1" ], "evidence": [ { "id": "R-HSA-211206", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211206" } ] }, { "id": "R-HSA-211207", "name": "Cleaved fragments of DFF45 dissociate from DFF40", "equation": "", "summary": "Following caspase-3 cleavage, the fragments of DFF45 dissociate from DFF40, the active component of DFF (Liu et al. 1998).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O76075-1" ], "evidence": [ { "id": "R-HSA-211207", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211207" } ] }, { "id": "R-HSA-211224", "name": "Association of DFF40 with DFF45", "equation": "", "summary": "DNA Fragmentation Factor (DFF), is a heterodimer of 40 kDa (DFF40) and 45 kDa (DFF45) subunits (Liu et al., 1997). DFF45 (ICAD) appears to act as a chaperone for DFF40 (CAD) during its synthesis, remaining complexed with it to inhibit its DNase activity (Enari et al., 1998). The complex could exist as: a DFF40:DFF45 heterodimer, a (DFF40:DFF45)2 heterotetramer or a (DFF40:DFF40:DFF45:DFF45) heterotetramer (Lechardeur et al., 2005). ; ;", "cellular_location": "cytosol", "input_participant_list": [ "R-HSA-211211", "R-HSA-211221" ], "output_participant_list": [ "R-HSA-211192" ], "enzyme_list": [ "O76075-1" ], "evidence": [ { "id": "R-HSA-211224", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211224" } ] }, { "id": "R-HSA-211239", "name": "Association of DFF40 with chromatin", "equation": "", "summary": "Direct interactions between the histone H1 C-terminal domain and DFF40/CAD possibly target the nuclease to chromatin linker DNA promoting the linker DNA cleavage during the terminal stages of apoptosis (Widlak et al., 2005). Noteworthy, it has been reported that DFF40/DFF45 complexes could also associate with chromatin and be activated with caspase-3 in DNA-bound state (Korn et al., 2005).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O76075-1" ], "evidence": [ { "id": "R-HSA-211239", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211239" } ] }, { "id": "R-HSA-211247", "name": "Cleavage of DNA by DFF40", "equation": "", "summary": "The DFF40 cleaves DNA substrates to generate fragments possessing ends with 5\u2019-phosphate and 3\u2019-hydroxyl groups, and generates exclusively double strand breaks (primarily blunt ends). It has some sequence preferences on naked DNA substrates and prefers purine/pyrimidine blocks with rotational symmetry (Widlak et al., 2000). DFF is both a deoxyribonucleotide-specific and a double-strand-specific endonuclease (Hanus et al., 2008).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O76075-1" ], "evidence": [ { "id": "R-HSA-211247", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211247" } ] }, { "id": "R-HSA-9029667", "name": "DFF dissociates from importin-alpha:importin-beta", "equation": "", "summary": "Based on known mechanism of importin-alpha:importin-beta mode of action, cargo imported to the nucleus dissociates from the importin alpha/beta complex in a Ran:GTP-dependent manner. Dissociation of the DFF complex from the importin alpha/beta complex is therefore assumed. Ran:GTP is not shown as its role has not been studied in the context of the DFF complex (Neimanis et al. 2007).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O76075-1" ], "evidence": [ { "id": "R-HSA-9029667", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9029667" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-211192", "participant_name": "DFFA:DFFB [cytosol]", "crossref": [ { "id": "CPX-2498", "database": "ComplexPortal", "url": "" } ] }, { "participant_id": "R-HSA-211211", "participant_name": "DFFB [cytosol]", "crossref": [ { "id": "O76075", "database": "UniProt", "url": "" }, { "id": "1IBX", "database": "PDB", "url": "" }, { "id": "ENSG00000169598-DFFB", "database": "HPA", "url": "" }, { "id": "O76075", "database": "Pharos - Targets", "url": "" }, { "id": "O76075", "database": "GeneCards", "url": "" }, { "id": "ENSG00000169598", "database": "OpenTargets", "url": "" }, { "id": "ENSP00000343218", "database": "Ensembl", "url": "" }, { "id": "ENSP00000436775", "database": "Ensembl", "url": "" }, { "id": "ENSG00000169598", "database": "Ensembl", "url": "" }, { "id": "NP_004393.1", "database": "RefSeq", "url": "" }, { "id": "ENST00000491998", "database": "Ensembl", "url": "" }, { "id": "O76075", "database": "PRO", "url": "" }, { "id": "ENSP00000367454", "database": "Ensembl", "url": "" }, { "id": "ENST00000339350", "database": "Ensembl", "url": "" }, { "id": "NP_001307061.1", "database": "RefSeq", "url": "" }, { "id": "ENST00000378209", "database": "Ensembl", "url": "" } ] }, { "participant_id": "R-HSA-211221", "participant_name": "DFFA [cytosol]", "crossref": [ { "id": "O00273", "database": "UniProt", "url": "" }, { "id": "1IBX", "database": "PDB", "url": "" }, { "id": "NP_004392.1", "database": "RefSeq", "url": "" }, { "id": "ENSP00000366237", "database": "Ensembl", "url": "" }, { "id": "O00273", "database": "PRO", "url": "" }, { "id": "ENSG00000160049-DFFA", "database": "HPA", "url": "" }, { "id": "1KOY", "database": "PDB", "url": "" }, { "id": "1IYR", "database": "PDB", "url": "" }, { "id": "ENSP00000366235", "database": "Ensembl", "url": "" }, { "id": "ENST00000377036", "database": "Ensembl", "url": "" }, { "id": "ENST00000377038", "database": "Ensembl", "url": "" }, { "id": "O00273", "database": "Pharos - Targets", "url": "" }, { "id": "ENSG00000160049", "database": "Ensembl", "url": "" }, { "id": "NP_998731.1", "database": "RefSeq", "url": "" }, { "id": "O00273", "database": "GeneCards", "url": "" }, { "id": "ENSG00000160049", "database": "OpenTargets", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O76075", "gene_name": "DFFB", "activity": [ { "ec_number": "3.-.-.-", "activity": "", "evidence": [ { "id": "O76075", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O76075" } ] } ] }, { "uniprot_ac": "P42574", "gene_name": "CASP3", "activity": [ { "ec_number": "3.4.22.56", "activity": "Strict requirement for an Asp residue at positions P1 and P4. 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