APPL2 - adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 Gene

中文名称：衔接蛋白，与 PH 结构域和亮氨酸拉链 2 相互作用的磷酸酪氨酸

种属: Homo sapiens

同用名: DIP13B

关于 APPL2

功能概要

由该基因编码的蛋白质是小 GTP 酶 RAB5A/Rab5 的两个效应子之一，它们参与信号转导通路。两个效应子都包含一个 N 端 Bin/Amphiphysin/Rvs (BAR) 结构域、一个中心 pleckstrin 同源 (PH) 结构域和一个 C 端磷酸酪氨酸结合 (PTB) 结构域，它们通过 BAR 结构域结合 Rab5。它们与内体膜相关，可以响应 EGF 刺激转移到细胞核。它们与 NuRD/MeCP1 复合物 (核小体重塑和脱乙酰酶/甲基-CpG 结合蛋白 1 复合物) 相互作用，并且是有效细胞增殖所必需的。涉及该基因和 PSAP2 基因的染色体畸变 t (12;22) (q24.1;q13.3) 导致 22q13.3 缺失综合征，也称为 Phelan-McDermid 综合征。[RefSeq 提供，2011 年 10 月]

The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011]