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", 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"url": "" }, { "id": "Q9NWV8", "database": "PRO", "url": "" }, { "id": "6H3C", "database": "PDB", "url": "" }, { "id": "ENSP00000352408", "database": "Ensembl", "url": "" }, { "id": "NP_001028721.1", "database": "RefSeq", "url": "" }, { "id": "ENSG00000105393", "database": "Ensembl", "url": "" }, { "id": "ENSG00000105393-BABAM1", "database": "HPA", "url": "" }, { "id": "ENST00000359435", "database": "Ensembl", "url": "" }, { "id": "ENST00000601043", "database": "Ensembl", "url": "" }, { "id": "NP_001275686.1", "database": "RefSeq", "url": "" }, { "id": "Q9NWV8", "database": "Pharos - Targets", "url": "" }, { "id": "Q9NWV8", "database": "UniProt", "url": "" }, { "id": "ENST00000598188", "database": "Ensembl", "url": "" }, { "id": "NP_054892.2", "database": "RefSeq", "url": "" }, { "id": "ENSP00000471605", "database": "Ensembl", "url": "" }, { "id": "HMDBP13781", "database": "HMDB Protein", "url": "" } ] }, { "participant_id": "R-HSA-5686708", "participant_name": "p-S645-DCLRE1C [nucleoplasm]", "crossref": [ { "id": "ENST00000697075", "database": "Ensembl", "url": "" }, { "id": "XP_006717554.1", "database": "RefSeq", "url": "" }, { "id": "ENST00000396817", "database": "Ensembl", "url": "" }, { "id": "NP_001276005.1", "database": "RefSeq", "url": "" }, { "id": "ENSG00000152457", "database": "Ensembl", "url": "" }, { "id": "NP_001029030.1", "database": "RefSeq", "url": "" }, { "id": "XP_011517918.1", "database": "RefSeq", "url": "" }, { "id": "ENSP00000367527", "database": "Ensembl", "url": "" }, { "id": "ENST00000357717", "database": "Ensembl", "url": "" }, { "id": "NP_001276008.1", "database": "RefSeq", "url": "" }, { "id": "ENST00000378278", "database": "Ensembl", "url": "" }, { "id": "ENSP00000367496", "database": "Ensembl", "url": "" }, { "id": "NP_001276007.1", "database": "RefSeq", "url": "" }, { "id": "ENST00000378258", "database": "Ensembl", "url": "" }, { "id": "NP_001029027.1", "database": "RefSeq", "url": "" }, { "id": "6WNL", "database": "PDB", "url": "" }, { "id": "ENSP00000367538", "database": "Ensembl", "url": "" }, { "id": "7TYR", "database": "PDB", "url": "" }, { "id": "ENSP00000367502", "database": "Ensembl", "url": "" }, { "id": "ENSP00000367506", "database": "Ensembl", "url": "" }, { "id": "ENSP00000513090", "database": "Ensembl", "url": "" }, { "id": "NP_071932.2", "database": "RefSeq", "url": "" }, { "id": "7ABS", "database": "PDB", "url": "" }, { "id": "ENSG00000152457-DCLRE1C", "database": "HPA", "url": "" }, { "id": "ENST00000378246", "database": "Ensembl", "url": "" }, { "id": "XP_011517919.1", "database": "RefSeq", "url": "" }, { "id": "ENSP00000380030", "database": "Ensembl", "url": "" }, { "id": "NP_001276006.1", "database": "RefSeq", "url": "" }, { "id": "ENSP00000367492", "database": "Ensembl", "url": "" }, { "id": "ENSP00000350349", "database": "Ensembl", "url": "" }, { "id": "3W1B", "database": "PDB", "url": "" }, { "id": "7AF1", "database": "PDB", "url": "" }, { "id": "7SGL", "database": "PDB", "url": "" }, { "id": "6TT5", "database": "PDB", "url": "" }, { "id": "XP_016872046.1", "database": "RefSeq", "url": "" }, { "id": "Q96SD1", "database": "UniProt", "url": "" }, { "id": "XP_011517921.1", "database": "RefSeq", "url": "" }, { "id": "ENST00000378254", "database": "Ensembl", "url": "" }, { "id": "4HTP", "database": "PDB", "url": "" }, { "id": "ENST00000378249", "database": "Ensembl", "url": "" }, { "id": "ENSG00000152457", "database": "OpenTargets", "url": "" }, { "id": "NP_001029029.1", "database": "RefSeq", "url": "" }, { "id": "ENST00000378289", "database": "Ensembl", "url": "" }, { "id": "3W1G", "database": "PDB", "url": "" }, { "id": "ENST00000378255", "database": "Ensembl", "url": "" }, { "id": "ENSP00000367503", "database": "Ensembl", "url": "" }, { "id": "XP_016872047.1", "database": "RefSeq", "url": "" }, { "id": "Q96SD1", "database": "PRO", "url": "" }, { "id": "7AFU", "database": "PDB", "url": "" }, { "id": "15852", "database": "Orphanet", "url": "" }, { "id": "7AFS", "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": "O88491", "gene_name": "Nsd1", "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": "O88491", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O88491" } ] }, { "ec_number": "2.1.1.357", "activity": "", "evidence": [ { "id": "O88491", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O88491" } ] } ] }, { "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": "Q53H47", "gene_name": "SETMAR", "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": "Q53H47", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q53H47" } ] }, { "ec_number": "3.1.-.-", "activity": "", "evidence": [ { "id": "Q53H47", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q53H47" } ] } ] }, { "uniprot_ac": "Q5I0M0", "gene_name": "Setmar", "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": "Q5I0M0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5I0M0" } ] }, { "ec_number": "2.1.1.357", "activity": "", "evidence": [ { "id": "Q5I0M0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5I0M0" } ] } ] }, { "uniprot_ac": "Q80UJ9", "gene_name": "Setmar", "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": "Q80UJ9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q80UJ9" } ] }, { "ec_number": "2.1.1.357", "activity": "", "evidence": [ { "id": "Q80UJ9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q80UJ9" } ] } ] }, { "uniprot_ac": "Q8BVE8", "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": "Q8BVE8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BVE8" } ] }, { "ec_number": "2.1.1.357", "activity": "", "evidence": [ { "id": "Q8BVE8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BVE8" } ] } ] }, { "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": "Q8MT36", "gene_name": "NSD", "activity": [ { "ec_number": "2.1.1.354", "activity": "L-lysyl(4)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(4)-[histone H3] + 3 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q8MT36", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8MT36" } ] }, { "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": "Q8MT36", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8MT36" } ] }, { "ec_number": "2.1.1.357", "activity": "", "evidence": [ { "id": "Q8MT36", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8MT36" } ] } ] }, { "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", "activity": [ { "ec_number": "3.6.-.-", "activity": "", "evidence": [ { "id": "Q92878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92878" } ] } ] }, { "uniprot_ac": "Q92993", "gene_name": "KAT5", "activity": [ { "ec_number": "2.3.1.48", "activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].", "evidence": [ { "id": "Q92993", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92993" } ] }, { "ec_number": "2.3.1.48", "activity": "", "evidence": [ { "id": "Q92993", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92993" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q92993", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92993" } ] } ] }, { "uniprot_ac": "Q96L73", "gene_name": "NSD1", "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": "Q96L73", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96L73" } ] }, { "ec_number": "2.1.1.357", "activity": "", "evidence": [ { "id": "Q96L73", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96L73" } ] } ] }, { "uniprot_ac": "Q96SD1", "gene_name": "DCLRE1C", "activity": [ { "ec_number": "3.1.-.-", "activity": "", "evidence": [ { "id": "Q96SD1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96SD1" } ] } ] }, { "uniprot_ac": "Q99728", "gene_name": "BARD1", "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": "Q99728", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99728" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q99728", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99728" } ] } ] }, { "uniprot_ac": "Q9BZ95", "gene_name": "NSD3", "activity": [ { "ec_number": "2.1.1.370", "activity": "L-lysyl(4)-[histone H3] + 2 S-adenosyl-L-methionine = 2 H(+) + N(6),N(6)-dimethyl-L-lysyl(4)-[histone H3] + 2 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q9BZ95", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BZ95" } ] }, { "ec_number": "2.1.1.371", "activity": "L-lysyl(27)-[histone H3] + 2 S-adenosyl-L-methionine = 2 H(+) + N(6),N(6)-dimethyl-L-lysyl(27)-[histone H3] + 2 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q9BZ95", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BZ95" } ] }, { "ec_number": "2.1.1.371", "activity": "", "evidence": [ { "id": "Q9BZ95", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BZ95" } ] }, { "ec_number": "2.1.1.370", "activity": "", "evidence": [ { "id": "Q9BZ95", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BZ95" } ] } ] }, { "uniprot_ac": "Q9NR48", "gene_name": "ASH1L", "activity": [ { "ec_number": "2.1.1.359", "activity": "L-lysyl(36)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(36)-[histone H3] + 3 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q9NR48", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NR48" } ] }, { "ec_number": "2.1.1.367", "activity": "L-lysyl(9)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(9)-[histone H3] + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q9NR48", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NR48" } ] }, { "ec_number": "2.1.1.359", "activity": "", "evidence": [ { "id": "Q9NR48", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NR48" } ] }, { "ec_number": "2.1.1.367", "activity": "", "evidence": [ { "id": "Q9NR48", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NR48" } ] } ] }, { "uniprot_ac": "Q9NRG4", "gene_name": "SMYD2", "activity": [ { "ec_number": "2.1.1.-", "activity": "", "evidence": [ { "id": "Q9NRG4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NRG4" } ] }, { "ec_number": "2.1.1.354", "activity": "L-lysyl(4)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(4)-[histone H3] + 3 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q9NRG4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NRG4" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 280, 658, 1209, 1210 ], "snv_sites": [ 248, 280, 522, 614, 615, 714, 772, 864, 999, 1099, 1113, 1209, 1210, 1211, 1264, 1332 ], "glycation_sites": [], "phosphorylation_sites": [ 56, 102, 110, 114, 115, 121, 172, 175, 177, 376, 377, 380, 422, 437, 495, 544, 580, 583, 587, 614 ], "sequon_annotation_sites": [ { "start_pos": 1135, "end_pos": 1137 }, { "start_pos": 113, "end_pos": 115 }, { "start_pos": 1141, "end_pos": 1143 }, { "start_pos": 1197, "end_pos": 1199 }, { "start_pos": 119, "end_pos": 121 }, { "start_pos": 527, "end_pos": 529 }, { "start_pos": 589, "end_pos": 591 }, { "start_pos": 830, "end_pos": 832 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 4 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "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": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 4 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "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": "phosphorylation", "table_stats": [ { "field": "total", "count": 20 }, { "field": "total_sites", "count": 20 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 16 }, { "field": "total_sites", "count": 16 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 12 }, { "field": "total_sites", "count": 12 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 234 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }