{ "uniprot_canonical_ac": "O76064-1", "uniprot_ac": "O76064", "uniprot_id": "RNF8_HUMAN", "mass": { "chemical_mass": 55518.0, "monoisotopic_mass": 55518.0 }, "refseq": { "ac": "NP_003949", "name": "E3 ubiquitin-protein ligase RNF8 isoform 1", "summary": "The protein encoded by this gene contains a RING finger motif and an FHA domain. This protein has been shown to interact with several class II ubiquitin-conjugating enzymes (E2), including UBE2E1/UBCH6, UBE2E2, and UBE2E3, and may act as an ubiquitin ligase (E3) in the ubiquitination of certain nuclear proteins. This protein is also known to play a role in the DNA damage response and depletion of this protein causes cell growth inhibition and cell cycle arrest. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003949" }, "gene_names": [ { "name": "RNF8", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O76064", "id": "O76064" }, { "name": "KIAA0646", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O76064", "id": "O76064" }, { "name": "RNF8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003949", "id": "NP_003949" }, { "name": "hRNF8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003949", "id": "NP_003949" } ], "protein_names": [ { "name": "E3 ubiquitin-protein ligase RNF8", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O76064" }, { "name": "2.3.2.27", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O76064" }, { "name": "C3HC4-type zinc finger protein; ring finger protein (C3HC4 type) 8; E3 ubiquitin-protein ligase RNF8; UBC13/UEV-interacting ring finger protein; ring finger protein 8, E3 ubiquitin protein ligase; RING-type E3 ubiquitin transferase RNF8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003949", "id": "NP_003949" }, { "name": "E3 ubiquitin-protein ligase RNF8 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003949", "id": "NP_003949" }, { "name": "RING finger protein 8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O76064" }, { "name": "RING-type E3 ubiquitin transferase RNF8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O76064" }, { "name": "hRNF8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O76064" } ], "function": [ { "annotation": "CAMK2D serves as a molecular scaffold for RNF8-MAD2 complex to induce mitotic checkpoint in glioma.", "evidence": [ { "database": "RefSeq", "id": "NP_003949", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003949" }, { "database": "PubMed", "id": "37468549", "url": "https://glygen.org/publication/PubMed/37468549" } ] }, { "annotation": "E3 ubiquitin-protein ligase that plays a key role in DNA damage signaling via 2 distinct roles: by mediating the 'Lys-63'-linked ubiquitination of histones H2A and H2AX and promoting the recruitment of DNA repair proteins at double-strand breaks (DSBs) sites, and by catalyzing 'Lys-48'-linked ubiquitination to remove target proteins from DNA damage sites. Following DNA DSBs, it is recruited to the sites of damage by ATM-phosphorylated MDC1 and catalyzes the 'Lys-63'-linked ubiquitination of histones H2A and H2AX, thereby promoting the formation of TP53BP1 and BRCA1 ionizing radiation-induced foci (IRIF). Also controls the recruitment of UIMC1-BRCC3 (RAP80-BRCC36) and PAXIP1/PTIP to DNA damage sites. Also recruited at DNA interstrand cross-links (ICLs) sites and catalyzes 'Lys-63'-linked ubiquitination of histones H2A and H2AX, leading to recruitment of FAAP20/C1orf86 and Fanconi anemia (FA) complex, followed by interstrand cross-link repair. H2A ubiquitination also mediates the ATM-dependent transcriptional silencing at regions flanking DSBs in cis, a mechanism to avoid collision between transcription and repair intermediates. Promotes the formation of 'Lys-63'-linked polyubiquitin chains via interactions with the specific ubiquitin-conjugating UBE2N/UBC13 and ubiquitinates non-histone substrates such as PCNA. Substrates that are polyubiquitinated at 'Lys-63' are usually not targeted for degradation. Also catalyzes the formation of 'Lys-48'-linked polyubiquitin chains via interaction with the ubiquitin-conjugating UBE2L6/UBCH8, leading to degradation of substrate proteins such as CHEK2, JMJD2A/KDM4A and KU80/XRCC5: it is still unclear how the preference toward 'Lys-48'- versus 'Lys-63'-linked ubiquitination is regulated but it could be due to RNF8 ability to interact with specific E2 specific ligases. For instance, interaction with phosphorylated HERC2 promotes the association between RNF8 and UBE2N/UBC13 and favors the specific formation of 'Lys-63'-linked ubiquitin chains. Promotes non-homologous end joining (NHEJ) by promoting the 'Lys-48'-linked ubiquitination and degradation the of KU80/XRCC5. Following DNA damage, mediates the ubiquitination and degradation of JMJD2A/KDM4A in collaboration with RNF168, leading to unmask H4K20me2 mark and promote the recruitment of TP53BP1 at DNA damage sites (PubMed:11322894, PubMed:14981089, PubMed:17724460, PubMed:18001824, PubMed:18001825, PubMed:18006705, PubMed:18077395, PubMed:18337245, PubMed:18948756, PubMed:19015238, PubMed:19124460, PubMed:19202061, PubMed:19203578, PubMed:19203579, PubMed:20550933, PubMed:21558560, PubMed:21857671, PubMed:21911360, PubMed:22266820, PubMed:22373579, PubMed:22531782, PubMed:22705371, PubMed:22865450, PubMed:22980979). Following DNA damage, mediates the ubiquitination and degradation of POLD4/p12, a subunit of DNA polymerase delta. In the absence of POLD4, DNA polymerase delta complex exhibits higher proofreading activity (PubMed:23233665). In addition to its function in damage signaling, also plays a role in higher-order chromatin structure by mediating extensive chromatin decondensation. Involved in the activation of ATM by promoting histone H2B ubiquitination, which indirectly triggers histone H4 'Lys-16' acetylation (H4K16ac), establishing a chromatin environment that promotes efficient activation of ATM kinase. Required in the testis, where it plays a role in the replacement of histones during spermatogenesis. At uncapped telomeres, promotes the joining of deprotected chromosome ends by inducing H2A ubiquitination and TP53BP1 recruitment, suggesting that it may enhance cancer development by aggravating telomere-induced genome instability in case of telomeric crisis. Promotes the assembly of RAD51 at DNA DSBs in the absence of BRCA1 and TP53BP1 Also involved in class switch recombination in immune system, via its role in regulation of DSBs repair. May be required for proper exit from mitosis after spindle checkpoint activation and may regulate cytokinesis. May play a role in the regulation of RXRA-mediated transcriptional activity. Not involved in RXRA ubiquitination by UBE2E2 (PubMed:11322894, PubMed:14981089, PubMed:17724460, PubMed:18001824, PubMed:18001825, PubMed:18006705, PubMed:18077395, PubMed:18337245, PubMed:18948756, PubMed:19015238, PubMed:19124460, PubMed:19202061, PubMed:19203578, PubMed:19203579, PubMed:20550933, PubMed:21558560, PubMed:21857671, PubMed:21911360, PubMed:22266820, PubMed:22373579, PubMed:22531782, PubMed:22705371, PubMed:22865450, PubMed:22980979).", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064#function" }, { "database": "PubMed", "id": "22266820", "url": "https://glygen.org/publication/PubMed/22266820" }, { "database": "PubMed", "id": "19203579", "url": "https://glygen.org/publication/PubMed/19203579" }, { "database": "PubMed", "id": "22980979", "url": "https://glygen.org/publication/PubMed/22980979" }, { "database": "PubMed", "id": "11322894", "url": "https://glygen.org/publication/PubMed/11322894" }, { "database": "PubMed", "id": "18948756", "url": "https://glygen.org/publication/PubMed/18948756" }, { "database": "PubMed", "id": "21857671", "url": "https://glygen.org/publication/PubMed/21857671" }, { "database": "PubMed", "id": "22531782", "url": "https://glygen.org/publication/PubMed/22531782" }, { "database": "PubMed", "id": "22705371", "url": "https://glygen.org/publication/PubMed/22705371" }, { "database": "PubMed", "id": "18001825", "url": "https://glygen.org/publication/PubMed/18001825" }, { "database": "PubMed", "id": "18001824", "url": "https://glygen.org/publication/PubMed/18001824" }, { "database": "PubMed", "id": "19202061", "url": "https://glygen.org/publication/PubMed/19202061" }, { "database": "PubMed", "id": "21911360", "url": "https://glygen.org/publication/PubMed/21911360" }, { "database": "PubMed", "id": "20550933", "url": "https://glygen.org/publication/PubMed/20550933" }, { "database": "PubMed", "id": "19203578", "url": "https://glygen.org/publication/PubMed/19203578" }, { "database": "PubMed", "id": "17724460", "url": "https://glygen.org/publication/PubMed/17724460" }, { "database": "PubMed", "id": "18006705", "url": "https://glygen.org/publication/PubMed/18006705" }, { "database": "PubMed", "id": "18077395", "url": "https://glygen.org/publication/PubMed/18077395" }, { "database": "PubMed", "id": "22373579", "url": "https://glygen.org/publication/PubMed/22373579" }, { "database": "PubMed", "id": "14981089", "url": "https://glygen.org/publication/PubMed/14981089" }, { "database": "PubMed", "id": "23233665", "url": "https://glygen.org/publication/PubMed/23233665" }, { "database": "PubMed", "id": "19015238", "url": "https://glygen.org/publication/PubMed/19015238" }, { "database": "PubMed", "id": "19124460", "url": "https://glygen.org/publication/PubMed/19124460" }, { "database": "PubMed", "id": "18337245", "url": "https://glygen.org/publication/PubMed/18337245" }, { "database": "PubMed", "id": "22865450", "url": "https://glygen.org/publication/PubMed/22865450" }, { "database": "PubMed", "id": "21558560", "url": "https://glygen.org/publication/PubMed/21558560" } ] }, { "annotation": "RNF8 depletion attenuates hepatocellular carcinoma progression by inhibiting epithelial-mesenchymal transition and enhancing drug sensitivity.", "evidence": [ { "database": "RefSeq", "id": "NP_003949", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003949" }, { "database": "PubMed", "id": "37154586", "url": "https://glygen.org/publication/PubMed/37154586" } ] }, { "annotation": "RNF8 up-regulates AR/ARV7 action to contribute to advanced prostate cancer progression. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003949", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003949" }, { "database": "PubMed", "id": "35428760", "url": "https://glygen.org/publication/PubMed/35428760" } ] }, { "annotation": "RNF8-ubiquitinated KMT5A is required for RNF168-induced H2A ubiquitination in response to DNA damage.", "evidence": [ { "database": "RefSeq", "id": "NP_003949", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003949" }, { "database": "PubMed", "id": "33710666", "url": "https://glygen.org/publication/PubMed/33710666" } ] }, { "annotation": "Results suggest a novel function of RNF8 as a regulator of RXR alpha-mediated transcriptional activity through interaction between their respective N-terminal regions", "evidence": [ { "database": "RefSeq", "id": "NP_003949", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003949" }, { "database": "PubMed", "id": "14981089", "url": "https://glygen.org/publication/PubMed/14981089" } ] }, { "annotation": "The protein encoded by this gene contains a RING finger motif and an FHA domain. This protein has been shown to interact with several class II ubiquitin-conjugating enzymes (E2), including UBE2E1/UBCH6, UBE2E2, and UBE2E3, and may act as an ubiquitin ligase (E3) in the ubiquitination of certain nuclear proteins. This protein is also known to play a role in the DNA damage response and depletion of this protein causes cell growth inhibition and cell cycle arrest. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_003949", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003949" } ] }, { "annotation": "The ubiquitin ligase RNF8 regulates Rho GTPases and promotes cytoskeletal changes and motility in triple-negative breast cancer cells.", "evidence": [ { "database": "RefSeq", "id": "NP_003949", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003949" }, { "database": "PubMed", "id": "33205415", "url": "https://glygen.org/publication/PubMed/33205415" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 403, "end_pos": 403, "sequence_org": "C", "sequence_mut": "S", "comment": "Marked reduction of E2-dependent ubiquitination of histone H2A. Loss of UBE2E2- and UBE2N-binding. Loss of nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" }, { "database": "PubMed", "id": "11322894", "url": "https://glygen.org/publication/PubMed/11322894" }, { "database": "PubMed", "id": "18001824", "url": "https://glygen.org/publication/PubMed/18001824" }, { "database": "PubMed", "id": "16215985", "url": "https://glygen.org/publication/PubMed/16215985" }, { "database": "PubMed", "id": "14981089", "url": "https://glygen.org/publication/PubMed/14981089" } ] }, { "start_pos": 405, "end_pos": 405, "sequence_org": "I", "sequence_mut": "A", "comment": "Impairs interaction with UBE2L6/UBCH8 and ability to mediate 'Lys-48'-linked ubiquitination E3 ligase activity, while it still catalyzes 'Lys-63'-linked ubiquitination and still interacts with UBE2N/UBC13.", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" }, { "database": "PubMed", "id": "21911360", "url": "https://glygen.org/publication/PubMed/21911360" }, { "database": "PubMed", "id": "22373579", "url": "https://glygen.org/publication/PubMed/22373579" }, { "database": "PubMed", "id": "22589545", "url": "https://glygen.org/publication/PubMed/22589545" } ] }, { "start_pos": 406, "end_pos": 406, "sequence_org": "C", "sequence_mut": "S", "comment": "Abolishes ubiquitin-ligase activity.", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" }, { "database": "PubMed", "id": "21857671", "url": "https://glygen.org/publication/PubMed/21857671" } ] }, { "start_pos": 42, "end_pos": 42, "sequence_org": "R", "sequence_mut": "A", "comment": "Abolishes interaction with ATM-phosphorylated MDC1. Abolishes interaction with human herpesvirus 1 ICP0. Abolishes recruitment to DNA damage sites after UV irradiation, ionizing radiation, or treatment with an alkylating agent.", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" }, { "database": "PubMed", "id": "21857671", "url": "https://glygen.org/publication/PubMed/21857671" }, { "database": "PubMed", "id": "22405594", "url": "https://glygen.org/publication/PubMed/22405594" }, { "database": "PubMed", "id": "18001824", "url": "https://glygen.org/publication/PubMed/18001824" }, { "database": "PubMed", "id": "23233665", "url": "https://glygen.org/publication/PubMed/23233665" } ] }, { "start_pos": 443, "end_pos": 443, "sequence_org": "D", "sequence_mut": "R", "comment": "Does not affect the monomeric structure but abolishes ability to monoubiquitinate H2A in nucleosomes.", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" }, { "database": "PubMed", "id": "22980979", "url": "https://glygen.org/publication/PubMed/22980979" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "78.3", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000112130", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112130" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "77.65", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000112130", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112130" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "71.65", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000112130", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112130" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000112130", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112130" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "85.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112130", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112130" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "84.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112130", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112130" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "61.69", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000112130", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112130" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "80.24", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112130", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112130" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "81.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112130", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112130" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "62.01", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000112130", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112130" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "78.43", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000112130", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112130" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "83.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112130", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112130" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "82.05", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112130", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112130" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O76064", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O76064" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O76064", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O76064" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O76064", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O76064" } ], "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": 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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": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O76064", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O76064" } ], "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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}, { "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5693571", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693571", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5693607", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693607", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-69473", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69473", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_003949", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003949", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "C9J858", "url": "https://www.uniprot.org/uniprot/C9J858", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J858-1", "url": "https://www.uniprot.org/uniprot/C9J858-1", "database": "UniProtKB", 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"categories": [ "Protein" ] }, { "id": "O76064-2", "url": "https://www.uniprot.org/uniprot/O76064-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O76064-3", "url": "https://www.uniprot.org/uniprot/O76064-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGEPGFFVTGDRAGGRSWCLRRVGMSAGWLLLEDGCEVTVGRGFGVTYQLVSKICPLMISRNHCVLKQNPEGQWTIMDNKSLNGVWLNRARLEPLRVYSIHQGDYIQLGVPLENKENAEYEYEVTEEDWETIYPCLSPKNDQMIEKNKELRTKRKFSLDELAGPGAEGPSNLKSKINKVSCESGQPVKSQGKGEVASTPSDNLDPKLTALEPSKTTGAPIYPGFPKVTEVHHEQKASNSSASQRSLQMFKVTMSRILRLKIQMQEKHEAVMNVKKQTQKGNSKKVVQMEQELQDLQSQLCAEQAQQQARVEQLEKTFQEEEQHLQGLEIAQGEKDLKQQLAQALQEHWALMEELNRSKKDFEAIIQAKNKELEQTKEEKEKMQAQKEEVLSHMNDVLENELQCIICSEYFIEAVTLNCAHSFCSYCINEWMKRKIECPICRKDIKSKTYSLVLDNCINKMVNNLSSEVKERRIVLIRERKAKRLF", "length": 485, "header": "sp|O76064-1|RNF8_HUMAN Isoform 1 of E3 ubiquitin-protein ligase RNF8 OS=Homo sapiens OX=9606 GN=RNF8 PE=1 SV=1 CANONICAL=O76064-1" }, "isoforms": [ { "isoform_ac": "C9J858-1", "url": "", "sequence": { "sequence": "MISRNHCVLKQNPEGQWTIMDNKSLNGVWLNRARLEPLRVYSIHQGDYIQLGVPLENKENAEYEYEVTEEDWETIYPCLSPKNDQMIEKNKELRTKRKFSLDELAGPGAEGPSNLKSKINKVSCESGQPVKSQGKGEVASTPSDNLDPKLTALEPSKTTGAPIYPGFPKVTEVHHEQKASNSSASQRSLQMFKVTMSRILRLKIQ", "length": 205, "header": "tr|C9J858-1|C9J858_HUMAN Computationally mapped isoform of Ring finger protein 8 OS=Homo sapiens OX=9606 GN=RNF8 PE=1 SV=1 CANONICAL=O76064-1" }, "locus": { "chromosome": "6", "start_pos": 37369029, "end_pos": 37360506, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000487950.1", "url": "https://www.ensembl.org/id/ENST00000487950.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000417736.1", "url": "https://www.ensembl.org/id/ENSP00000417736.1" } ] } }, { "isoform_ac": "F8WDH8-1", "url": "", "sequence": { "sequence": "MGEPGFFVTGDRAGGRSWCLRRVGMSAGWLLLEDGCEGCYELDWSNRKV", "length": 49, "header": "tr|F8WDH8-1|F8WDH8_HUMAN Computationally mapped isoform of Ring finger protein 8 OS=Homo sapiens OX=9606 GN=RNF8 PE=1 SV=1 CANONICAL=O76064-1" }, "locus": { "chromosome": "6", "start_pos": 37359218, "end_pos": 37354165, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000494320.5", "url": "https://www.ensembl.org/id/ENST00000494320.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000420268.1", "url": "https://www.ensembl.org/id/ENSP00000420268.1" } ] } }, { "isoform_ac": "F8WEW6-1", "url": "", "sequence": { "sequence": "MGEPGFFVTGDRAGGRSWCLRRVGMSAGWLLLEDGCEVTVGRGFGVTYQLVSKICPLMISRNHCVLKQNPEGQWTIMDNKGTTSLSKER", "length": 89, "header": "tr|F8WEW6-1|RNF8_HUMAN Computationally mapped isoform of E3 ubiquitin-protein ligase RNF8 OS=Homo sapiens OX=9606 GN=RNF8 PE=1 SV=1 CANONICAL=O76064-1" }, "locus": { "chromosome": "6", "start_pos": 37361364, "end_pos": 37354165, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000469316.5", "url": "https://www.ensembl.org/id/ENST00000469316.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000419859.1", "url": "https://www.ensembl.org/id/ENSP00000419859.1" } ] } }, { "isoform_ac": "H7C4L7-1", "url": "", "sequence": { "sequence": "XPSKTTGAPIYPGFPKVTEVHHEQKASNSSASQRSLQMFKVTMSRILRLKIQMQEKHEAVMNVKKQTQKGNSKKVVQMEQELQDLQSQLCAEQAQQQARVEQLEKTFQEEEQHLQGLEIAQGEKDLKQQLAQALQEEEKEKMQAQKEEVLSHMNDVLENELQCIICSEYFIEQRDCSEDRALRAFERLPGSASLRWSGGFSLAVTPLL", "length": 208, "header": "tr|H7C4L7-1|H7C4L7_HUMAN Computationally mapped isoform of Ring finger protein 8 OS=Homo sapiens OX=9606 GN=RNF8 PE=1 SV=1 CANONICAL=O76064-1" }, "locus": { "chromosome": "6", "start_pos": 37390851, "end_pos": 37368876, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000498460.1", "url": "https://www.ensembl.org/id/ENST00000498460.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000417599.1", "url": "https://www.ensembl.org/id/ENSP00000417599.1" } ] } }, { "isoform_ac": "O76064-1", "url": "", "sequence": { "sequence": "MGEPGFFVTGDRAGGRSWCLRRVGMSAGWLLLEDGCEVTVGRGFGVTYQLVSKICPLMISRNHCVLKQNPEGQWTIMDNKSLNGVWLNRARLEPLRVYSIHQGDYIQLGVPLENKENAEYEYEVTEEDWETIYPCLSPKNDQMIEKNKELRTKRKFSLDELAGPGAEGPSNLKSKINKVSCESGQPVKSQGKGEVASTPSDNLDPKLTALEPSKTTGAPIYPGFPKVTEVHHEQKASNSSASQRSLQMFKVTMSRILRLKIQMQEKHEAVMNVKKQTQKGNSKKVVQMEQELQDLQSQLCAEQAQQQARVEQLEKTFQEEEQHLQGLEIAQGEKDLKQQLAQALQEHWALMEELNRSKKDFEAIIQAKNKELEQTKEEKEKMQAQKEEVLSHMNDVLENELQCIICSEYFIEAVTLNCAHSFCSYCINEWMKRKIECPICRKDIKSKTYSLVLDNCINKMVNNLSSEVKERRIVLIRERKAKRLF", "length": 485, "header": "sp|O76064-1|RNF8_HUMAN Isoform 1 of E3 ubiquitin-protein ligase RNF8 OS=Homo sapiens OX=9606 GN=RNF8 PE=1 SV=1 CANONICAL=O76064-1" }, "locus": { "chromosome": "6", "start_pos": 37390755, "end_pos": 37354165, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000373479.9", "url": "https://www.ensembl.org/id/ENST00000373479.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000362578.4", "url": "https://www.ensembl.org/id/ENSP00000362578.4" } ] } }, { "isoform_ac": "O76064-2", "url": "", "sequence": { "sequence": "MGEPGFFVTGDRAGGRSWCLRRVGMSAGWLLLEDGCEVTVGRGFGVTYQLVSKICPLMISRNHCVLKQNPEGQWTIMDNKSFPSEKAEDFTAAGERFL", "length": 98, "header": "sp|O76064-2|RNF8_HUMAN Isoform 2 of E3 ubiquitin-protein ligase RNF8 OS=Homo sapiens OX=9606 GN=RNF8 PE=1 SV=1 CANONICAL=O76064-1" }, "locus": { "chromosome": "6", "start_pos": 37368431, "end_pos": 37354165, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000229866.10", "url": "https://www.ensembl.org/id/ENST00000229866.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000229866.6", "url": "https://www.ensembl.org/id/ENSP00000229866.6" } ] } }, { "isoform_ac": "O76064-3", "url": "", "sequence": { "sequence": "MGEPGFFVTGDRAGGRSWCLRRVGMSAGWLLLEDGCEVTVGRGFGVTYQLVSKICPLMISRNHCVLKQNPEGQWTIMDNKSLNGVWLNRARLEPLRVYSIHQGDYIQLGVPLENKENAEYEYEVTEEDWETIYPCLSPKNDQMIEKNKELRTKRKFSLDELAGPGAEGPSNLKSKINKVSCESGQPVKSQGKGEVASTPSDNLDPKLTALEPSKTTGAPIYPGFPKVTEVHHEQKASNSSASQRSLQMFKVTMSRILRLKIQMQEKHEAVMNVKKQTQKGNSKKVVQMEQELQDLQSQLCAEQAQQQARVEQLEKTFQEEEQHLQGLEIAQGEKDLKQQLAQALQEHWALMEELNRSKKDFEAIIQAKNKELEQTKEEKEKMQAQKEEVLSHMNDVLENELQCIICSEYFIEQRDCSEDRALRAFERLPGSASLRWSGGFSLAVTPLL", "length": 448, "header": "sp|O76064-3|RNF8_HUMAN Isoform 3 of E3 ubiquitin-protein ligase RNF8 OS=Homo sapiens OX=9606 GN=RNF8 PE=1 SV=1 CANONICAL=O76064-1" }, "locus": { "chromosome": "6", "start_pos": 37390849, "end_pos": 37354165, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000469731.5", "url": "https://www.ensembl.org/id/ENST00000469731.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000418879.1", "url": "https://www.ensembl.org/id/ENSP00000418879.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 157, "end_pos": 157, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O76064", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O76064" }, { "database": "phospho.ELM", "id": "O76064", "url": "http://phospho.elm.eu.org/byAccession/O76064.html" } ], "site_lbl": "Ser157" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Requirement of ATM-dependent phosphorylation of brca1 in the DNA damage response to double-strand breaks.", "journal": "Science (New York, N.Y.)", "date": "1999", "authors": "Cortez D, Wang Y, Qin J, Elledge SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565" } ], "reference": [ { "type": "PubMed", "id": "10550055", "url": "https://glygen.org/publication/PubMed/10550055" } ] }, { "title": "Geometry of a complex formed by double strand break repair proteins at a single DNA end: recruitment of DNA-PKcs induces inward translocation of Ku protein.", "journal": "Nucleic acids research", "date": "1999", "authors": "Yoo S, Dynan WS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693571", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693571" } ], "reference": [ { "type": "PubMed", "id": "10572166", "url": "https://glygen.org/publication/PubMed/10572166" } ] }, { "title": "hCds1-mediated phosphorylation of BRCA1 regulates the DNA damage response.", "journal": "Nature", "date": "2000", "authors": "Lee JS, Collins KM, Brown AL, Lee CH, Chung JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565" } ], "reference": [ { "type": "PubMed", "id": "10724175", "url": "https://glygen.org/publication/PubMed/10724175" } ] }, { "title": "Ku recruits the XRCC4-ligase IV complex to DNA ends.", "journal": "Molecular and cellular biology", "date": "2000", "authors": "Nick McElhinny SA, Snowden CM, McCarville J, Ramsden DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693571", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693571" } ], "reference": [ { "type": "PubMed", "id": "10757784", "url": "https://glygen.org/publication/PubMed/10757784" } ] }, { "title": "ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway.", "journal": "Nature", "date": "2000", "authors": "Lim DS, Kim ST, Xu B, Maser RS, Lin J, Petrini JH, Kastan MB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": 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"https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "site of double-strand break", "id": "GO:0035861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035861", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "ubiquitin ligase complex", "id": "GO:0000151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000151", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "chromosome, telomeric region", "id": "GO:0000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000781", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 9, "go_terms": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "ubiquitin binding", "id": "GO:0043130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043130", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 18, "go_terms": [ { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "double-strand break repair via nonhomologous end joining", "id": "GO:0006303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006303", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "response to ionizing radiation", "id": "GO:0010212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010212", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "signal transduction in response to DNA damage", "id": "GO:0042770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042770", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "positive regulation of DNA repair", "id": "GO:0045739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045739", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "cell cycle", "id": "GO:0007049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007049", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "protein autoubiquitination", "id": "GO:0051865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051865", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "protein K48-linked ubiquitination", "id": "GO:0070936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070936", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "isotype switching", "id": "GO:0045190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045190", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "epigenetic regulation of gene expression", "id": "GO:0040029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040029", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "protein K63-linked ubiquitination", "id": "GO:0070534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070534", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "interstrand cross-link repair", "id": "GO:0036297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036297", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "negative regulation of transcription elongation by RNA polymerase II", "id": "GO:0034244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034244", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "sperm DNA condensation", "id": "GO:0035092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035092", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" }, { "name": "DNA repair-dependent chromatin remodeling", "id": "GO:0140861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140861", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 238, "end_pos": 240, "annotation": "n_glycosylation_sequon" }, { "start_pos": 355, "end_pos": 357, "annotation": "n_glycosylation_sequon" }, { "start_pos": 463, "end_pos": 465, "annotation": "n_glycosylation_sequon" }, { "start_pos": 79, "end_pos": 81, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Autoubiquitinated through 'Lys-48' and 'Lys-63' of ubiquitin. 'Lys-63' polyubiquitination is mediated by UBE2N. 'Lys-29'-type polyubiquitination is also observed, but it doesn't require its own functional RING-type zinc finger.", "evidence": [ { "database": "UniProtKB", "id": "O76064", "url": "https://www.uniprot.org/uniprot/O76064" }, { "database": "PubMed", "id": "16215985", "url": "https://glygen.org/publication/PubMed/16215985" } ] } ], "interactions": [], "reactions": [ { "id": "R-HSA-5682586", "name": "HERC2 and PIAS4 are recruited to DNA DSBs", "equation": "", "summary": "PIAS4, an E3 SUMO ligase, is recruited to DNA double-strand breaks (DSBs) via an unknown mechanism that requires a DNA-binding SAP domain of PIAS4 (Galanty et al. 2009). HERC2, an E3 ubiquitin ligase and a PIAS4 target, is recruited to DNA DSBs probably through its interaction with ATM (Bekker-Jensen et al. 2010).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13315-1", "O96028-1", "Q92993-1", "O76064-1", "P49959-1", "O75164-1", "Q92878-1", "O94953-1", "O95714-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-5682586", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682586" } ] }, { "id": "R-HSA-5682588", "name": "RNF8 binds phosphorylated MDC1 at DNA DSBs", "equation": "", "summary": "RNF8 is an E3 ubiquitin ligase that, through its FHA domain, binds MDC1 phosphorylated at T-Q-X-F (Thr-Gln-X-Phe) sites by ATM. The phosphorylation of at least four T-Q-X-F sites of MDC1 (T699, T719, T752, T765) increases RNF8 binding to MDC1 (Kolas et al. 2007). RNF8 functions as a homodimer formed by interactions of the RNF8 coiled-coil domains (Cambell et al. 2012).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13315-1", "O96028-1", "Q92993-1", "O76064-1", "P49959-1", "O75164-1", "Q92878-1", "O94953-1" ], "evidence": [ { "id": "R-HSA-5682588", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682588" } ] }, { "id": "R-HSA-5682598", "name": "ATM phosphorylates HERC2", "equation": "", "summary": "ATM phosphorylates HERC2 on threonine residue T4827. This threonine residue may also be phosphorylated by ATR and DNA-PKcs (PRKDC) (Bekker-Jensen et al. 2010).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13315-1", "O96028-1", "Q92993-1", "O76064-1", "P49959-1", "O75164-1", "Q92878-1", "O94953-1", "O95714-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-5682598", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682598" } ] }, { "id": "R-HSA-5682607", "name": "PIAS4 SUMOylates HERC2 with SUMO1 at DNA DSBs", "equation": "", "summary": "PIAS4 SUMOylates HERC2 at an unknown lysine residue with SUMO1. ATM activity is needed for PIAS4-mediated HERC2 SUMOylation and it is therefore plausible that the ATM-mediated phosphorylation of HERC2 precedes HERC2 SUMOylation. Once SUMOylated, the ZZ domain of HERC2 interacts with the attached SUMO1 group, probably leading to a conformational change that allows binding of phosphorylated HERC2 to RNF8 (Bekker-Jensen et al. 2010, Danielsen et al. 2012).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13315-1", "P63279-1", "O96028-1", "Q92993-1", "O76064-1", "P49959-1", "O75164-1", "Q92878-1", "O94953-1", "O95714-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-5682607", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682607" } ] }, { "id": "R-HSA-5682629", "name": "HERC2 facilitates UBE2N:UBE2V2 binding to RNF8", "equation": "", "summary": "HERC2 facilitates binding of the E2 ubiquitin conjugase dimer UBE2N:UBE2V2 (UBC13:MMS2) to RNF8 at DNA double-strand breaks (DSBs) (Kolas et al. 2007, Bekker-Jensen et al. 2010, Campbell et al. 2012).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13315-1", "O96028-1", "Q92993-1", "O76064-1", "P49959-1", "O75164-1", "P61088-1", "Q92878-1", "O94953-1", "O95714-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-5682629", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682629" } ] }, { "id": "R-HSA-5682858", "name": "RNF8 and RNF168 ubiquitinate H2AFX", "equation": "", "summary": "RNF8 and RNF168 E3 ubiquitin ligases work in concert with the E2 ubiquitin ligase complex UBE2N:UBE2V2 (UBC13:MMS2) to polyubiquitinate histone H2AFX (H2AX) on lysine residues K14 and K16 (commonly labeled in literature as K13 and K15) via ubiquitin lysine K63-directed cross-linking (Mattiroli et al. 2012). The scenario best supported by experimental evidence is that RNF8 initiates ubiquitination of H2AFX, followed by RNF168 binding to and extending ubiquitin chains ligated by RNF8 (Huen et al. 2007, Mailand et al. 2007, Stewart et al. 2009, Doil et al. 2009, Campbell et al. 2012).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13315-1", "O96028-1", "Q92993-1", "O76064-1", "P49959-1", "O75164-1", "Q8IYW5-1", "P61088-1", "Q92878-1", "O94953-1", "O95714-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-5682858", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682858" } ] }, { "id": "R-HSA-5682863", "name": "RNF168 binds DNA DSBs", "equation": "", "summary": "The recruitment of RNF168, an E3 ubiquitin ligase, to DNA double-strand breaks (DSBs) is facilitated by the interaction of RNF168 with the UBE2N:UBE2V2 (UBC13:MMS2) complex, which serves as the E2 ubiquitin ligase for both RNF8 and RNF168. In addition, because the two RNF168 ubiquitin interaction motifs (UIMs) are needed for the accumulation of RNF168 at DSBs, the initial ubiquitination of H2AFX (H2AX) histones by RNF8 is likely involved in RNF168 recruitment to DSBs. Inactivating mutations in both RNF168 alleles are responsible for the RIDDLE (radiosensitivity, immunodeficiency, dysmorphic features and learning difficulties) syndrome (Stewart et al. 2009, Doil et al. 2009, Bekker-Jensen et al. 2010, Campbell et al. 2012, Mattiroli et al. 2012).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13315-1", "O96028-1", "Q92993-1", "O76064-1", "P49959-1", "O75164-1", "Q8IYW5-1", "P61088-1", "Q92878-1", "O94953-1", "O95714-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-5682863", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682863" } ] }, { "id": "R-HSA-5683077", "name": "RNF8 and RNF168 ubiquitinate KDM4A,B", "equation": "", "summary": "RNF8 and RNF168 polyubiquitinate KDM4A and KDM4B via ubiquitin lysine K48 cross-linking, leading to dissociation of ubiquitinated KDM4A and KDM4B from H4K20Me2 (Me2-K21-HIST1H4A) and subsequent proteasome-mediated degradation of KDM4A and KDM4B (Mallette et al. 2012).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13315-1", "O96028-1", "Q92993-1", "O76064-1", "P49959-1", "O75164-1", "Q8IYW5-1", "P61088-1", "Q92878-1", "O94953-1", "O95714-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-5683077", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683077" } ] }, { "id": "R-HSA-5683384", "name": "UIMC1 and FAM175A bind DNA DSBs", "equation": "", "summary": "UIMC1 (RAP80) is recruited to DNA double-strand breaks (DSBs) through the interaction of its UIM (ubiquitin interaction motif) region with H2AFX (H2AX) ubiquitinated by RNF8 and RNF168 (Huen et al. 2007, Wang and Elledge 2007, Kolas et al. 2007, Mailand et al. 2007). A simultaneous interaction with FAM175A (Abraxas) through the AIR (Abraxas-interaction region) domain of UIMC1 facilitates UIMC1 binding to DNA DSBs. The interaction between UIMC1 and FAM175A and their loading to DNA DSBs is independent of BRCA1 (Wang et al. 2007, Wang and Elledge 2007).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13315-1", "O96028-1", "Q92993-1", "O76064-1", "P49959-1", "Q8IYW5-1", "P61088-1", "Q92878-1", "O95714-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-5683384", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683384" } ] }, { "id": "R-HSA-5683385", "name": "Formation of BRCA1-A complex at DNA DSBs", "equation": "", "summary": "A DNA damage-independent phosphorylation of FAM175A (Abraxas) serine residue S406 creates a pS-X-X-F (phospho-Ser-X-X-Phe) motif that binds BRCT repeats of BRCA1. The BRCA1 cancer predisposing mutation M1775R (Met1775Arg) inhibits BRCA1 binding to FAM175A. FAM175A interaction with UIMC1 (RAP80) enables BRCA1 recruitment to DNA double-strand breaks (DSBs) (Wang et al. 2007). In addition to BRCA1, FAM175A also interacts with BRCC3 (BRCC36) (Wang et al. 2007, Hu et al. 2011) and BABAM1 (MERIT40, NBA1) (Vikrant et al. 2014). BABAM1 simultaneously interacts with BRE (BRCC45) (Hu et al. 2011). Together, BRCA1, BARD1, UIMC1, FAM175A, BRCC36, BRE and BABAM1 form the so-called BRCA1-A complex at DNA DSBs (Wang et al. 2009).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P38398-1", "Q13315-1", "P46736-1", "O96028-1", "Q92993-1", "O76064-1", "P49959-1", "Q8IYW5-1", "Q99728-1", "P61088-1", "Q92878-1", "O95714-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-5683385", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683385" } ] }, { "id": "R-HSA-5683405", "name": "PPP5C dephosphorylates TP53BP1", "equation": "", "summary": "PPP5C-mediated dephosphorylation of TP53BP1 serine residues S25 and S1778 contributes to dissociation of TP53BP1 from DNA doubles strand break (DSB) sites and termination of DSB repair (Kang et al. 2009).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13315-1", "P53041-1", "O96028-1", "Q92993-1", "O76064-1", "P49959-1", "Q8IYW5-1", "P61088-1", "Q92878-1", "O95714-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-5683405", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683405" } ] }, { "id": "R-HSA-5683425", "name": "ATM phosphorylates TP53BP1 at DNA DSBs", "equation": "", "summary": "Activated ATM hyper-phosphorylates TP53BP1 (53BP1) at multiple residues in response to DNA damage (Fernandez-Capetillo et al. 2002, Ward et al. 2003, Jowsey et al. 2007). Phosphorylation of TP53BP1 serine residues S25 and S1778 is important for the retention of TP53BP1 at DNA double-strand break (DSB) sites (Kang et al. 2009).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13315-1", "O96028-1", "Q92993-1", "O76064-1", "P49959-1", "Q8IYW5-1", "P61088-1", "Q92878-1", "O95714-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-5683425", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683425" } ] }, { "id": "R-HSA-5683735", "name": "CHEK2 is recruited to DNA DSBs", "equation": "", "summary": "CHEK2 (CHK2, Cds1) is recruited to DNA double-strand breaks (DSBs) mainly through its interaction with TP53BP1 (53BP1) (Wang et al. 2002), but BRCA1 also contributes to CHEK2 recruitment (Wilson and Stern 2008).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P38398-1", "O96017-1", "Q13315-1", "P46736-1", "O96028-1", "Q92993-1", "O76064-1", "P49959-1", "Q8IYW5-1", "Q99728-1", "P61088-1", "Q92878-1", "O95714-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-5683735", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683735" } ] }, { "id": "R-HSA-5683801", "name": "CHEK2 phosphorylates BRCA1", "equation": "", "summary": "Activated CHEK2 phosphorylates BRCA1 on serine residue S988 (Lee et al. 2000), but does not phosphorylate BARD1, the heterodimerization partner of BRCA1 (Kim et al. 2006).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P38398-1", "O96017-1", "Q13315-1", "P46736-1", "O96028-1", "Q92993-1", "O76064-1", "P49959-1", "Q8IYW5-1", "Q99728-1", "P61088-1", "Q92878-1", "O95714-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-5683801", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683801" } ] }, { "id": "R-HSA-5684052", "name": "PIAS4 SUMOylates MDC1", "equation": "", "summary": "PIAS4 SUMOylates MDC1 at lysine residue K1840. The exact timing and regulation of this modification is not known (Luo et al. 2012, Yin et al. 2012).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P38398-1", "Q13315-1", "P46736-1", "P63279-1", "O96028-1", "Q92993-1", "O76064-1", "P49959-1", "Q8IYW5-1", "Q99728-1", "P61088-1", "Q92878-1", "O95714-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-5684052", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5684052" } ] }, { "id": "R-HSA-5684071", "name": "RNF4 ubiquitinates MDC1", "equation": "", "summary": "SUMOylation of MDC1 by PIAS4 creates a docking site for RNF4, an E3 ubiquitin ligase. RNF4 binds to MDC1 specifically when SUMO2 is attached to lysine K1840 of MDC1. RNF4 polyubiquitinates MDC1 through ubiquitin lysine residue K48 cross-linking. RNF4-mediated ubiquitination targets MDC1 for degradation and causes dissociation of MDC1-bound proteins from DNA double-strand breaks (DSBs). While additional regulation steps may be involved, the activity of RNF4 is necessary for the initiation of resection of DNA ends at DSBs and progression of homologous recombination (Luo et al. 2012, Yin et al. 2012, Galanty et al. 2012).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P38398-1", "Q13315-1", "P46736-1", "O96028-1", "Q92993-1", "O76064-1", "P49959-1", "Q8IYW5-1", "P78317-1", "Q99728-1", "P61088-1", "Q92878-1", "O95714-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-5684071", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5684071" } ] }, { "id": "R-HSA-5686685", "name": "RIF1 and PAX1IP bind TP53BP1 at DNA DSBs", "equation": "", "summary": "RIF1 binds TP53BP1 phosphorylated by ATM at DNA double strand breaks (DSBs). RIF1 binding interferes with the accumulation of BRCA1:BARD1 heterodimers and associated proteins at DNA DSBs. Therefore, TP53BP1-mediated recruitment of RIF1 prevents RBBP8 (CtIP) binding to BRCA1:BARD1 and the subsequent resection of DNA DSBs. The action of RIF1 and TP53BP1 promotes non-homologous end joining (NHEJ) of DNA DSBs during G1 phase of the cell cycle, when sister chromatids are not available for homologous recombination-mediated repair (Zimmermann et al. 2013, Escribano-Diaz et al. 2013).

Similar to RIF1, PAX1IP (PTIP) is also recruited to DNA DSBs through interaction with ATM-phosphorylated TP53BP1. Since RIF1 and PAX1IP interact with different phosphorylated sites on TP53BP1, they can simultaneously bind TP53BP1 and colocalize in the majority of TP53BP1 foci. PAX1IP contributes to inhibition of DNA DSB resection mediated by BRCA1-recruited RBBP8 (CtIP) (Callen et al. 2013).", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-480742", "R-HSA-5619395" ], "output_participant_list": [ "R-HSA-5682574", "R-HSA-5682575", "R-HSA-5682577", "R-HSA-5682579", "R-HSA-5682582" ], "enzyme_list": [ "P38398-1", "Q13315-1", "P46736-1", "O96028-1", "Q92993-1", "O76064-1", "P49959-1", "Q8IYW5-1", "Q99728-1", "P61088-1", "Q92878-1", "O95714-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-5686685", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5686685" } ] }, { "id": "R-HSA-5686704", "name": "Activated ATM phosphorylates DCLRE1C", "equation": "", "summary": "Activated ATM phosphorylates DCLRE1C (ARTEMIS) at serine residue S645. S645 phosphorylation is necessary for the function of DCLRE1C in non-homologous end joining (NHEJ) (Riballo et al. 2004, Poinsignon et al. 2004, Chen et al. 2005).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [ "R-HSA-5686708" ], "enzyme_list": [ "Q96SD1-1", "Q13315-1", "O96028-1", "Q92993-1", "O76064-1", "P49959-1", "Q8IYW5-1", "P61088-1", "Q92878-1", "O95714-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-5686704", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5686704" } ] }, { "id": "R-HSA-5686900", "name": "TP53BP1 recruits DCLRE1C to ATM", "equation": "", "summary": "TP53BP1 is required for the recruitment of DCLRE1C (ARTEMIS) to DNA double strand breaks (DSBs) and ATM-mediated phosphorylation of DCLRE1C (Riballo et al. 2004). DCRLE1C directly interacts with the TP53BP1-binding protein PAX1IP (PTIP) (Wang et al. 2014).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q96SD1-1", "Q13315-1", "O96028-1", "Q92993-1", "O76064-1", "P49959-1", "Q8IYW5-1", "P61088-1", "Q92878-1", "O95714-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-5686900", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5686900" } ] }, { "id": "R-HSA-5693551", "name": "Phosphorylation of BRCA1-A complex at multiple sites by ATM", "equation": "", "summary": "ATM phosphorylates BRCA1 at serine residues S1387, S1423, S1457, and S1524 (Cortez et al. 1999, Gatei et al. 2000). At least a fraction of these sites and some additional BRCA1 SQ/TQ sites can also be phosphorylated by ATR (Tibbetts et al. 2000). ATM also phosphorylates BARD1, the heterodimerization partner of BRCA1, at threonine residues T714 and T734 (Kim et al. 2006).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P38398-1", "Q13315-1", "P46736-1", "O96028-1", "Q92993-1", "O76064-1", "P49959-1", "Q8IYW5-1", "Q99728-1", "P61088-1", "Q92878-1", "O95714-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-5693551", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693551" } ] }, { "id": "R-HSA-5693566", "name": "TP53BP1 associates with H4K20Me2 at DNA DSBs", "equation": "", "summary": "RNF8- and RNF168-mediated removal of KDM4A and KDM4B from H4K20Me2 (Me2-K21-HIST1H4A) enables TP53BP1 (53BP1) recruitment to WHSC1-methylated histone H4K20Me2 at DNA double-strand breaks (DSBs) (Pei et al. 2011, Mallette et al. 2012)", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13315-1", "O96028-1", "Q92993-1", "O76064-1", "P49959-1", "Q8IYW5-1", "P61088-1", "Q92878-1", "O95714-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-5693566", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693566" } ] }, { "id": "R-HSA-5693599", "name": "Association of Ku heterodimer with ends of DNA double-strand break", "equation": "", "summary": "Ionizing radiation (IR) induces single-strand breaks, i.e., cleavage of the phosphodiester backbone. When two single-strand breaks occur within approximately 10 base pairs, a DNA double-strand break (DSB) results. IR-induced DSBs are complex DNA damage lesions, frequently containing base damage, 5'-OH groups, and 3'-hydroxy or phosphoglycolate groups that must be removed prior to ligation in the final step of NHEJ (Friedberg et al, 1995; Nikjoo et al, 2001; Valerie and Povirk, 2003). The Ku70/80 heterodimer (XRCC5:XRCC6) (Walker et al., 2001) binds to the ends of the double-strand break. Ku can translocate inwards from the site of the break in an ATP-independent manner (reviewed in Dynan and Yoo, 1998). Binding of XRCC5:XRCC6 to DNA DSBs competes away the MRN complex and associated proteins from the DNA DSB (Sun et al. 2012).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13315-1", "P13010-1", "O96028-1", "Q92993-1", "P12956-1", "O76064-1", "P49959-1", "Q8IYW5-1", "P61088-1", "Q92878-1", "O95714-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-5693599", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693599" } ] }, { "id": "R-HSA-69891", "name": "Phosphorylation and activation of CHEK2 by ATM", "equation": "", "summary": "Activated ATM phosphorylates CHEK2 (CHK2, Cds1) on threonine residue T68 (Matsuoka et al. 2000, Melchionna et al. 2000). The presence of BRCA1 and TP53BP1 positively regulates ATM-mediated phosphorylation of CHEK2 (Wang et al. 2002, Foray et al. 2003). ATM-mediated phosphorylation causes formation of CHEK2 dimers and dissociation of CHEK2 from chromatin (Li and Stern 2005).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [ "R-HSA-113825" ], "enzyme_list": [ "P38398-1", "O96017-1", "Q13315-1", "P46736-1", "O96028-1", "Q92993-1", "O76064-1", "P49959-1", "Q8IYW5-1", "Q99728-1", "P61088-1", "Q92878-1", "O95714-1", "Q8N2W9-1" ], "evidence": [ { "id": "R-HSA-69891", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69891" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-113825", "participant_name": "p-T68-CHEK2 [nucleoplasm]", "crossref": [ { "id": "ENSG00000183765", "database": "OpenTargets", "url": "" }, { "id": "ENST00000433728", "database": "Ensembl", "url": "" }, { "id": "4BDG", "database": "PDB", "url": "" }, { "id": "2WTC", "database": "PDB", "url": "" }, { "id": "4A9T", "database": "PDB", "url": "" }, { "id": "O96017", "database": "GeneCards", "url": "" }, { "id": "3I6U", "database": "PDB", "url": "" }, { "id": "ENST00000425190", "database": "Ensembl", "url": "" }, { "id": "CHK2_HUMAN", "database": "ZINC - Investigational", "url": "" }, { "id": "ENST00000348295", "database": "Ensembl", "url": "" }, { "id": "2WTJ", "database": "PDB", "url": "" }, { "id": "4A9U", "database": "PDB", "url": "" }, { "id": "2YCQ", "database": "PDB", "url": "" }, { "id": "ENSP00000372023", "database": "Ensembl", "url": "" }, { "id": "2YIT", "database": "PDB", "url": "" }, { "id": "ENSP00000384919", "database": "Ensembl", "url": "" }, { "id": "2YIR", "database": "PDB", "url": "" }, { "id": "ENST00000404276", "database": "Ensembl", "url": "" }, { "id": "2XM8", "database": "PDB", "url": "" }, { "id": "ENST00000650281", "database": "Ensembl", "url": "" }, { "id": "O96017", "database": "UniProt", "url": "" }, { "id": "4BDB", "database": "PDB", "url": "" }, { "id": "4BDK", "database": "PDB", "url": "" }, { "id": "ENSP00000329012", "database": "Ensembl", "url": "" }, { "id": "2WTD", "database": "PDB", "url": "" }, { "id": "CHK2_HUMAN", "database": "ZINC - Predictions - Purchasable", "url": "" }, { "id": "CHK2_HUMAN", "database": "ZINC - World Drugs", "url": "" }, { "id": "2YCS", "database": "PDB", "url": "" }, { "id": "4BDC", "database": "PDB", "url": "" }, { "id": "2XK9", "database": "PDB", "url": "" }, { "id": "ENSP00000386087", "database": "Ensembl", "url": "" }, { "id": "1988", "database": "Guide to Pharmacology - Targets", "url": "" }, { "id": "3I6W", "database": "PDB", "url": "" }, { "id": "ENSP00000385747", "database": "Ensembl", "url": "" }, { "id": "2YCF", "database": "PDB", "url": "" }, { "id": "ENSP00000497000", "database": "Ensembl", "url": "" }, { "id": "O96017", "database": "PRO", "url": "" }, { "id": "2W0J", "database": "PDB", "url": "" }, { "id": "4BDJ", "database": "PDB", "url": "" }, { "id": "15444", "database": "Orphanet", "url": "" }, { "id": "XP_011528147.1", "database": "RefSeq", "url": "" }, { "id": "ENSP00000390244", "database": "Ensembl", "url": "" }, { "id": "HMDBP01248", "database": "HMDB Protein", "url": "" }, { "id": "2W7X", "database": "PDB", "url": "" }, { "id": "2XBJ", "database": "PDB", "url": "" }, { "id": "ENSG00000183765-CHEK2", "database": "HPA", "url": "" }, { "id": "2CN5", "database": "PDB", "url": "" }, { "id": "2WTI", "database": "PDB", "url": "" }, { "id": "ENST00000403642", "database": "Ensembl", "url": "" }, { "id": "O96017", "database": "ZINC target", "url": "" }, { "id": "4BDD", "database": "PDB", "url": "" }, { "id": "4A9R", "database": "PDB", "url": "" }, { "id": "CHK2_HUMAN", "database": "ZINC - Biogenic", "url": "" }, { "id": "ENST00000649563", "database": "Ensembl", "url": "" }, { "id": "O96017", "database": "Pharos - Targets", "url": "" }, { "id": "4BDE", "database": "PDB", "url": "" }, { "id": "NP_665861.1", "database": "RefSeq", "url": "" }, { "id": "XP_016884050.1", "database": "RefSeq", "url": "" }, { "id": "NP_009125.1", "database": "RefSeq", "url": "" }, { "id": "ENSP00000404400", "database": "Ensembl", "url": "" }, { "id": "2XM9", "database": "PDB", "url": "" }, { "id": "ENST00000417588", "database": "Ensembl", "url": "" }, { "id": "4BDH", "database": "PDB", "url": "" }, { "id": "ENSP00000412901", "database": "Ensembl", "url": "" }, { "id": "NP_001005735.1", "database": "RefSeq", "url": "" }, { "id": "ENST00000405598", "database": "Ensembl", "url": "" }, { "id": "4BDF", "database": "PDB", "url": "" }, { "id": "4A9S", "database": "PDB", "url": "" }, { "id": "1GXC", "database": "PDB", "url": "" }, { "id": "2YCR", "database": "PDB", "url": "" }, { "id": "ENST00000382580", "database": "Ensembl", "url": "" }, { "id": "4BDI", "database": "PDB", "url": "" }, { "id": "2CN8", "database": "PDB", "url": "" }, { "id": "4BDA", "database": "PDB", "url": "" }, { "id": "CHK2_HUMAN", "database": "ZINC - Substances", "url": "" }, { "id": "ENSG00000183765", "database": "Ensembl", "url": "" }, { "id": "NP_001244316.1", "database": "RefSeq", "url": "" }, { "id": "ENSP00000404567", "database": "Ensembl", "url": "" }, { "id": "CHK2_HUMAN", "database": "ZINC - FDA approved", "url": "" }, { "id": "3VA4", "database": "PDB", "url": "" }, { "id": "ENSP00000496928", "database": "Ensembl", "url": "" }, { "id": "ENST00000448511", "database": "Ensembl", "url": "" }, { "id": "2YIQ", "database": "PDB", "url": "" } ] }, { "participant_id": "R-HSA-480742", "participant_name": "RIF1 [nucleoplasm]", "crossref": [ { "id": "Q5UIP0", "database": "UniProt", "url": "" }, { "id": "Q5UIP0", "database": "Pharos - Targets", "url": "" }, { "id": "NP_001171136.1", "database": "RefSeq", "url": "" }, { "id": "NP_060621.3", "database": "RefSeq", "url": "" }, { "id": "Q5UIP0", "database": "GeneCards", "url": "" }, { "id": "Q5UIP0", "database": "PRO", "url": "" }, { "id": "ENSG00000080345-RIF1", "database": "HPA", "url": "" }, { "id": "ENSG00000080345", "database": "OpenTargets", "url": "" }, { "id": "ENSP00000243326", "database": "Ensembl", "url": "" }, 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"database": "PDB", "url": "" }, { "id": "7AGI", "database": "PDB", "url": "" }, { "id": "Q96SD1", "database": "Pharos - Targets", "url": "" }, { "id": "7APV", "database": "PDB", "url": "" }, { "id": "6WO0", "database": "PDB", "url": "" }, { "id": "Q96SD1", "database": "GeneCards", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O75164", "gene_name": "KDM4A", "activity": [ { "ec_number": "1.14.11.69", "activity": "2 2-oxoglutarate + N(6),N(6),N(6)-trimethyl-L-lysyl(36)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + N(6)-methyl-L-lysyl(36)-[histone H3] + 2 succinate.", "evidence": [ { "id": "O75164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75164" } ] }, { "ec_number": "1.14.11.66", "activity": "2 2-oxoglutarate + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + N(6)-methyl-L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "O75164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75164" } ] }, { "ec_number": "1.14.11.66", "activity": "", "evidence": [ { "id": "O75164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75164" } ] }, { "ec_number": "1.14.11.69", "activity": "", "evidence": [ { "id": "O75164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75164" } ] } ] }, { "uniprot_ac": "O76064", "gene_name": "RNF8", "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": "O76064", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O76064" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "O76064", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O76064" } ] } ] }, { "uniprot_ac": "O94953", "gene_name": "KDM4B", "activity": [ { "ec_number": "1.14.11.66", "activity": "2 2-oxoglutarate + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + N(6)-methyl-L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "O94953", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94953" } ] }, { "ec_number": "1.14.11.66", "activity": "", "evidence": [ { "id": "O94953", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94953" } ] } ] }, { "uniprot_ac": "O95714", "gene_name": "HERC2", "activity": [ { "ec_number": "2.3.2.26", "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": "O95714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95714" } ] }, { "ec_number": "2.3.2.26", "activity": "", "evidence": [ { "id": "O95714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95714" } ] } ] }, { "uniprot_ac": "O96017", "gene_name": "CHEK2", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "O96017", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O96017" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "O96017", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O96017" } ] } ] }, { "uniprot_ac": "O96028", "gene_name": "NSD2", "activity": [ { "ec_number": "2.1.1.357", "activity": "L-lysyl(36)-[histone H3] + 2 S-adenosyl-L-methionine = 2 H(+) + N(6),N(6)-dimethyl-L-lysyl(36)-[histone H3] + 2 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "O96028", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O96028" } ] }, { "ec_number": "2.1.1.357", "activity": "", "evidence": [ { "id": "O96028", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O96028" } ] } ] }, { "uniprot_ac": "P12956", "gene_name": "XRCC6", "activity": [ { "ec_number": "4.2.99.-", "activity": "", "evidence": [ { "id": "P12956", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12956" } ] }, { "ec_number": "3.6.4.-", "activity": "", "evidence": [ { "id": "P12956", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12956" } ] } ] }, { "uniprot_ac": "P13010", "gene_name": "XRCC5", "activity": [ { "ec_number": "3.6.4.-", "activity": "", "evidence": [ { "id": "P13010", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13010" } ] } ] }, { "uniprot_ac": "P38398", "gene_name": "BRCA1", "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": "P38398", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38398" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "P38398", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38398" } ] } ] }, { "uniprot_ac": "P46736", "gene_name": "BRCC3", "activity": [ { "ec_number": "3.4.19.-", "activity": "", "evidence": [ { "id": "P46736", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46736" } ] } ] }, { "uniprot_ac": "P49959", "gene_name": "MRE11", "activity": [ { "ec_number": "3.1.-.-", "activity": "", "evidence": [ { "id": "P49959", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49959" } ] } ] }, { "uniprot_ac": "P53041", "gene_name": "PPP5C", "activity": [ { "ec_number": "3.1.3.16", "activity": "H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate.", "evidence": [ { "id": "P53041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53041" } ] }, { "ec_number": "3.1.3.16", "activity": "", "evidence": [ { "id": "P53041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53041" } ] } ] }, { "uniprot_ac": "P61088", "gene_name": "UBE2N", "activity": [ { "ec_number": "2.3.2.23", "activity": "S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine + [E2 ubiquitin-conjugating enzyme]-L-cysteine = [E1 ubiquitin-activating enzyme]-L-cysteine + S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine.", "evidence": [ { "id": "P61088", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61088" } ] }, { "ec_number": "2.3.2.23", "activity": "", "evidence": [ { "id": "P61088", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61088" } ] } ] }, { "uniprot_ac": "P63279", "gene_name": "UBE2I", "activity": [ { "ec_number": "2.3.2.-", "activity": "", "evidence": [ { "id": "P63279", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P63279" } ] } ] }, { "uniprot_ac": "P78317", "gene_name": "RNF4", "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": "P78317", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P78317" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "P78317", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P78317" } ] } ] }, { "uniprot_ac": "Q13315", "gene_name": "ATM", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q13315", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13315" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "Q13315", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13315" } ] } ] }, { "uniprot_ac": "Q8IYW5", "gene_name": "RNF168", "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": "Q8IYW5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IYW5" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q8IYW5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IYW5" } ] } ] }, { "uniprot_ac": "Q8N2W9", "gene_name": "PIAS4", "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": "Q8N2W9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N2W9" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q8N2W9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N2W9" } ] } ] }, { "uniprot_ac": "Q92878", "gene_name": "RAD50", 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{ "start_pos": 355, "end_pos": 357 }, { "start_pos": 463, "end_pos": 465 }, { "start_pos": 79, "end_pos": 81 } ] }, "section_stats": [ { "table_id": "glycosylation", "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", "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": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 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