RP1 - RP1 axonemal microtubule associated Gene

中文名称：RP1 轴丝微管相关

种属: Homo sapiens

同用名: ORP1; DCDC4A

关于 RP1

功能概要

该基因编码 doublecortin 家族的一个成员。该基因编码的蛋白质包含两个 doublecortin 结构域，结合微管并调节微管聚合。编码的蛋白质是一种光感受器微管相关蛋白，是正确堆叠外节盘所必需的。这种蛋白质和另一种视网膜特异性蛋白质 RP1L1 蛋白质在影响视杆细胞光感受器的光敏性和外节形态发生方面发挥着重要的协同作用。由于其对体内视网膜氧水平的反应，这种蛋白质最初被命名为 ORP1 (氧调节蛋白-1) 。当发现该基因的突变导致常染色体显性遗传性视网膜色素变性时，该蛋白质随后被命名为 RP1 (视网膜色素变性 1) 。该基因的突变也会导致常染色体隐性遗传性视网膜色素变性。已发现由替代启动子和替代剪接产生的转录变体，它们与当前参考序列重叠，并且在当前参考序列的上游和下游具有多个外显子。然而，目前无法确定某些变体的生物学有效性和全长性质。[RefSeq 提供，2010 年 9 月]

This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated protein and is required for correct stacking of outer segment disc. This protein and the RP1L1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Because of its response to in vivo retinal oxygen levels, this protein was initially named ORP1 (oxygen-regulated protein-1). This protein was subsequently designated RP1 (retinitis pigmentosa 1) when it was found that mutations in this gene cause autosomal dominant retinitis pigmentosa. Mutations in this gene also cause autosomal recessive retinitis pigmentosa. Transcript variants resulted from an alternative promoter and alternative splicings have been found, which overlap the current reference sequence and has several exons upstream and downstream of the current reference sequence. However, the biological validity and full-length nature of some variants cannot be determined at this time.[provided by RefSeq, Sep 2010]