BRCA1相关RING域蛋白1 (BARD-1) (EC 2.3.2.27) (RING型E3泛素转移酶BARD1)
BRCA1相关RING域蛋白1 (BARD-1) (EC 2.3.2.27) (RING型E3泛素转移酶BARD1)
Q99728功能描述
E3泛素-protein连接酶。BRCA1-BARD1异二聚体特异性介导'Lys-6'连接的多聚泛素链的形成，并协调多种细胞途径，如DNA损伤修复、泛素化和转录调控，以维持基因组稳定性。在DNA损伤反应的细胞周期控制中发挥核心作用。通过介导泛素E3连接酶活性发挥作用，该活性是其肿瘤抑制功能所必需的。还与CSTF1/CSTF-50形成异二聚体，通过抑制pre-mRNA 3'切割来调节mRNA加工和RNAP II稳定性。 {ECO:0000269|PubMed:12890688, ECO:0000269|PubMed:14976165, ECO:0000269|PubMed:20351172}。
亚细胞定位
Nucleus. Note=During S phase of the cell cycle, colocalizes with BRCA1 into discrete subnuclear foci. Can translocate to the cytoplasm. Localizes at sites of DNA damage at double-strand breaks (DSBs); recruitment to DNA damage sites is mediated by the BRCA1-A complex.
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