SIPA1L3 - signal induced proliferation associated 1 like 3 Gene

中文名称：信号诱导增殖相关 1 样 3

种属: Homo sapiens

同用名: SPAL3; SPAR3; CTRCT45

关于 SIPA1L3

功能概要

该基因属于信号诱导增殖相关基因 1 家族，编码 GTP 结合蛋白 Rap1 特异性的 GTP 酶激活蛋白。 Rap1 与细胞粘附、细胞极性和细胞骨架组织的调节有关。与该家族的其他成员一样，该基因编码的蛋白质包含 RapGAP 和 PDZ 结构域。此外，该蛋白含有一个 C 端亮氨酸拉链结构域。该基因被提议在上皮细胞形态发生和极性的建立或维持中发挥作用。一致地，该蛋白质在细胞培养物中的表达显示定位于顶端区域的细胞-细胞边界，并且该基因在 3D Caco2 细胞培养物中的下调导致细胞极性和形态发生异常。该基因的等位基因变异与人类先天性白内障有关。[RefSeq 提供，2016 年 2 月]

This gene belongs to the signal induced proliferation associated 1 family of genes, which encode GTPase-activating proteins specific for the GTP-binding protein Rap1. Rap1 has been implicated in regulation of cell adhesion, cell polarity, and organization of the Cytoskeleton. Like other members of the family, the protein encoded by this gene contains RapGAP and PDZ domains. In addition, this protein contains a C-terminal leucine zipper domain. This gene is proposed to function in epithelial cell morphogenesis and establishment or maintenance of polarity. Consistently, expression of the protein in Cell Culture showed localization to cell-cell borders in apical regions, and downregulation of the gene in 3D Caco2 Cell Culture resulted in abnormal cell polarity and morphogenesis. Allelic variants of this gene have been associated with congenital cataracts in humans. [provided by RefSeq, Feb 2016]