BARD1 —— BRCA1关联的RING域1

BARD1

BRCA1关联的RING域1

BRCA1 associated RING domain 1

该基因编码与BRCA1的N末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的2个最保守的区域具有同源性：N端RING基序和C端BRCT结构域。RING基序是在调节细胞生长的多种蛋白质中发现的富含半胱氨酸的序列，包括肿瘤抑制基因和显性原癌基因的产物。该蛋白质还包含3个串联的锚蛋白重复序列​​。BARD1 / BRCA1相互作用被BRCA1中的致瘤氨基酸取代破坏，这意味着这些蛋白之间稳定复合物的形成可能是BRCA1肿瘤抑制的重要方面。该蛋白可能是乳腺癌或卵巢癌致癌突变的靶标。ು୔೎뗐愗愗೎繠痘V齠眊摠૖齠眊䡈ǀ䡈

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 stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]