Dnmt1 - DNA methyltransferase (cytosine-5) 1 Gene

中文名称：DNA 甲基转移酶 (cytosine-5) 1

种属: Mus musculus

同用名: Dnmt; MCMT; Met1; Cxxc9; MTase; Met-1; Dnmt1o; m.MmuI; MommeD2

关于 Dnmt1

功能概要

该基因编码的甲基转移酶优先甲基化半甲基化 DNA 中 CpG 残基的胞嘧啶，从而在 DNA 复制过程中产生完全甲基化的 CpG 碱基对。这种酶在多种细胞过程中发挥作用，包括细胞周期调节、DNA 修复和端粒维持。编码的蛋白质由一个具有核定位序列和复制叉靶向结构域的 N 末端结构域、一个 DNA 结合 CXXC 结构域、两个溴代相邻同源结构域和一个 C 末端催化结构域组成。该基因的小鼠胚胎干细胞突变体是可行的，但当引入种系时，会导致隐性致死表型，突变体胚胎显示发育迟缓和发育缺陷。可变剪接导致多个转录本变体。 [RefSeq 提供，2015 年 9 月]

This gene encodes a methyltransferase that preferentially methylates cytosines of CpG residues in hemimethylated DNA to generate fully methylated CpG base pairs during DNA replication. This Enzyme plays roles in diverse cellular processes including cell cycle regulation, DNA repair, and telomere maintenance. The encoded protein is composed of an N-terminal domain with a nuclear localization sequence and replication fork-targeting domain, a DNA-binding CXXC domain, two bromo-adjacent homology domains, and a C-terminal catalytic domain. Mouse embryonic stem cells mutant for this gene are viable, but when introduced into the germ line, cause a recessive lethal phenotype with mutant embryos displaying stunted growth and developmental defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]