范可尼贫血M组蛋白 (Protein FACM) (EC 3.6.4.13) (ATP依赖性RNA解旋酶FANCM) (范可尼贫血相关250 kDa多肽) (FAAP250) (Protein Hef直系同源蛋白)
范可尼贫血M组蛋白 (Protein FACM) (EC 3.6.4.13) (ATP依赖性RNA解旋酶FANCM) (范可尼贫血相关250 kDa多肽) (FAAP250) (Protein Hef直系同源蛋白)
Q8IYD8功能描述
范可尼贫血 (FA) 核心复合物的DNA依赖性ATPase组分 (PubMed:16116422)。为FA通路的正常激活所必需，导致FANCI-FANCD2复合物在DNA损伤应答中的单泛素化、细胞对DNA交联药物的抵抗以及防止染色体断裂 (PubMed:16116422, PubMed:19423727, PubMed:20347428, PubMed:20347429, PubMed:29231814)。与CENPS和CENPX形成复合物，结合双链DNA (dsDNA)、叉型DNA (fsDNA) 和Holliday连接底物 (PubMed:20347428, PubMed:20347429)。其ATP依赖性DNA分支迁移活性可以加工分支DNA结构，例如可移动的复制叉。在存在CENPS和CENPX的情况下，该活性受到强烈刺激 (PubMed:20347429)。与FAAP24形成复合物，有效结合单链DNA (ssDNA)、张开臂DNA和3'-flap底物 (PubMed:17289582)。在体外，单独存在时，强烈结合ssDNA寡聚体并微弱结合fsDNA，但不结合dsDNA (PubMed:16116434)。 {ECO:0000269|PubMed:16116422, ECO:0000269|PubMed:16116434, ECO:0000269|PubMed:17289582, ECO:0000269|PubMed:19423727, ECO:0000269|PubMed:20347428, ECO:0000269|PubMed:20347429, ECO:0000269|PubMed:29231814}。
组织特异性
Expressed in germ cells of fetal and adult ovaries. In fetal ovaries, it is present in oogonia but expression is stronger in pachytene stage oocytes. Expressed in oocytes arrested at the diplotene stage of prophase I during the last trimester of pregnancy and in adults (PubMed:29231814). Expressed in the testis (PubMed:30075111).
亚细胞定位
Nucleus
关键词