KDM2A - lysine demethylase 2A Gene

中文名称：赖氨酸脱甲基酶 2A

种属: Homo sapiens

同用名: FBL7; CXXC8; FBL11; FBXL11; JHDM1A; LILINA

关于 KDM2A

功能概要

该基因编码 F-box 蛋白家族的一个成员，其特征在于大约 40 个氨基酸基序，即 F-box。 F-box 蛋白构成称为 SCF (SKP1-cullin-F-box) 的泛素蛋白连接酶复合物的四个亚基之一，其在磷酸化依赖性泛素化中发挥作用。 F-box 蛋白分为 3 类：包含 WD-40 结构域的 Fbws、包含富含亮氨酸重复序列的 Fbls 和包含不同蛋白质-蛋白质相互作用模块或无可识别基序的 Fbxs。该基因编码的蛋白质属于 Fbls 类，除 F-box 外，还包含至少六个高度退化的富含亮氨酸的重复序列。该家族成员在表观遗传沉默中发挥作用。它在 CpG 岛成核并特异性去甲基化组蛋白 H3 的单甲基化和二甲基化赖氨酸 36。可变剪接导致多个转录本变体。[RefSeq 提供，2012 年 1 月]

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein Ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains at least six highly degenerated leucine-rich repeats. This family member plays a role in epigenetic silencing. It nucleates at CpG islands and specifically demethylates both mono- and di-methylated lysine-36 of histone H3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]