BARD1编码一种E3泛素-蛋白质连接酶，编码蛋白与BRCA1的N末端区域相互作用。BARD1具有在体内和体外结合BRCA1的能力，同时还与BRCA1的2个最保守区域：N末端RING基序和C末端BRCT结构域具有同源性。BARD1编码蛋白(BRCA1-associated RING domain protein 1)可与BRCA1形成稳定的核心复合物，该复合物是BRCA1肿瘤抑制的重要方面；并协调多种细胞途径，例如DNA损伤修复，泛素化和转录调节，以维持基因组稳定性。在DNA损伤的响应中，在控制细胞周期中发挥核心作用。通过介导其肿瘤抑制功能所需的泛素E3连接酶活性来起作用。此外，BARD1通过直接结合并稳定p53，而独立地调节细胞凋亡。在乳腺癌、卵巢癌和子宫癌中已经观察到三个使BARD1的肿瘤抑制功能失效的错义突变；p.C645R与乳腺癌和卵巢癌相关，p.V695L与乳腺癌相关，p.S761N与乳腺癌和子宫癌相关。

BARD1 (BRCA1-associated RING domain protein 1) encodes the BRCA1-associated RING domain protein 1 which forms a stable core complex with BRCA-1, a tumor suppressor that functions to maintain genome integrity by repairing DNA double-stranded breaks through homologous recombination and cell-cycle checkpoint activation. Poly ADP-ribose (PAR) mediates early recruitment of the BRCA1/BARD1 complex to damaged DNA sites; the BRCA1-BRCT domains of the BRCA1/BARD1 complex are essential for its retention and functionality at these DNA damage sites or the centrosome through binding to regulatory proteins like HP1 and OLA1, respectively . Further, BARD1 independently regulates apoptosis through its direct binding to and stabilization of p53. Three missense mutations which disable BARD1’s tumor suppressor function have been observed in breast, ovarian and uterine cancers; C645R is associated with breast and ovarian cancers, V695L is associated with breast cancer and S761N is associated with breast and uterine cancers.

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