Literature associating NUDT16L1 and 3-methylglutaconic aciduria type 4
NUDT16L1 [ENSP00000306670]
Tudor-interacting repair regulator protein; Key regulator of TP53BP1 required to stabilize TP53BP1 and regulate its recruitment to chromatin . In absence of DNA damage, interacts with the tandem Tudor-like domain of TP53BP1, masking the region that binds histone H4 dimethylated at 'Lys-20' (H4K20me2), thereby preventing TP53BP1 recruitment to chromatin and maintaining TP53BP1 localization to the nucleus . Following DNA damage, ATM-induced phosphorylation of TP53BP1 and subsequent recruitment of RIF1 leads to dissociate NUDT16L1/TIRR from TP53BP1, unmasking the tandem Tudor-like domain and allowing recruitment of TP53BP1 to DNA double strand breaks (DSBs) . Binds U8 snoRNA .
Synonyms: NUDT16L1, K7EIN2, K7ENA3, Q9BRJ7, W4VSQ8 ...