BARD1(BRCA1 associated RING domain 1),癌症关联基因,基因ID:580,这个基因编码一种与BRCA1的N端区域相互作用的蛋白质。除了在体内和体外结合BRCA1的能力外,它还与BRCA1最保守的2个区域具有同源性:N端环基序和C端BRCT域。环基序是一个富含半胱氨酸的序列,存在于多种调节细胞生长的蛋白质中,包括肿瘤抑制基因和显性原癌基因的产物。该蛋白还含有3个串联锚蛋白重复序列。bard1/brca1相互作用被brca1中的致瘤氨基酸取代破坏,这意味着在这些蛋白质之间形成稳定的复合物可能是brca1肿瘤抑制的一个重要方面。这种蛋白可能是乳腺癌或卵巢癌致癌突变的靶点。该基因有多种编码不同亚型的选择性剪接转录变体。This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a st。