菜单 基因医生

核糖体是催化蛋白质合成的细胞器,由一个小的40s亚基和一个大的60s亚基组成。这些亚基由四种RNA和大约80种结构上不同的蛋白质组成。这个基因编码核糖体蛋白L18P家族的一个成员和60S亚单位的组成部分。编码蛋白与5srrna结合形成一个稳定的复合物,称为5srrna核蛋白颗粒(rnp),这是将非核糖体相关的细胞质5srrna运输到核仁组装成核糖体所必需的。编码蛋白还可能通过激活下游肿瘤抑制因子和下调肿瘤蛋白表达来抑制肿瘤的发生。该基因突变已在钻石黑扇贫血(DBA)患者中发现。该基因与位于其第五内含子的小核仁RNA基因U21共同转录作为编码核糖体蛋白的典型基因,这个基因有多个经过处理的假基因散布在整个基因组中。[由RefSeq提供,2017年3月]
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18P family of ribosomal proteins and component of the 60S subunit. The encoded protein binds 5S rRNA to form a stable complex called the 5S ribonucleoprotein particle (RNP), which is necessary for the transport of nonribosome-associated cytoplasmic 5S rRNA to the nucleolus for assembly into ribosomes. The encoded protein may also function to inhibit tumorigenesis through the activation of downstream tumor suppressors and the downregulation of oncoprotein expression. Mutations in this gene have been identified in patients with Diamond-Blackfan Anemia (DBA). This gene is co-transcribed with the small nucleolar RNA gene U21, which is located in its fifth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Mar 2017]

基因名:RPL5
别名:L5,uL18,MSTP030,PPP1R135
基因ID:6125
Chromosome:
(GRCh37)
1 Start: 93297594 End: 93307481 Strand: 
信号通路:  
RPL5 基因突变与药物