RPL5是核糖体蛋白L5(Ribosomal Protein L5)的编码基因,属于核糖体蛋白基因家族(RPL家族),该家族成员编码核糖体的组成蛋白,共同参与核糖体的组装和蛋白质合成功能。RPL5在核糖体60S大亚基中与5S rRNA结合,形成5S核糖核蛋白复合体(5S RNP),对核糖体的结构和功能至关重要。其表达产物RPL5蛋白不仅参与蛋白质翻译,还在p53依赖的核糖体应激通路中发挥作用——当核糖体生物发生异常时,RPL5可与MDM2结合,阻止其对p53的降解,从而激活p53介导的细胞周期阻滞或凋亡。RPL5突变与多种疾病相关,如戴蒙德-布莱克范贫血(Diamond-Blackfan Anemia, DBA,一种先天性纯红细胞再生障碍性贫血),其突变导致核糖体功能缺陷和造血障碍;此外,RPL5在部分癌症(如胃癌、乳腺癌)中异常表达,可能通过影响核糖体稳态或p53通路参与肿瘤发生。若RPL5过表达,可能干扰核糖体平衡,引发核糖体应激反应(ribosomal stress)并激活p53;而表达降低则会导致核糖体组装障碍,影响全局蛋白质合成,甚至触发细胞凋亡。RPL5基因家族(RPL家族)的共性包括:均为核糖体结构组分,高度保守,参与核糖体生物发生(ribosome biogenesis)和翻译调控,且部分成员(如RPL5、RPL11)具有核糖体外的功能(如调控p53)。专业术语解释:核糖体(ribosome)是细胞内合成蛋白质的分子机器,由rRNA和蛋白质组成;p53是一种抑癌蛋白,负责监测细胞损伤并调控凋亡;核糖体应激指核糖体功能受损时触发的细胞应激反应。目前中文术语"核糖体生物发生"对应英文"ribosome biogenesis",指核糖体从组装到成熟的动态过程。
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L18P family of ribosomal proteins. It is located in the cytoplasm. The 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 protein interacts specifically with the beta subunit of casein kinase II. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. 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 through the genome. [provided by RefSeq, Jul 2008]
核糖体,催化蛋白质合成的细胞器,由一个小40S亚基和60S大亚基。一起这些亚基组成的4 RNA种类和大约80结构不同的蛋白质。该基因编码一种核糖体蛋白,它是60S亚基的一个组成部分。该蛋白属于L18P家族核糖体的蛋白质。它位于细胞质中。蛋白质结合5S rRNA基因,以形成稳定的复合物称为5S核糖核蛋白颗粒(RNP),这是必要的nonribosome相关细胞质5S rRNA基因的运输到核仁于组装成核糖体。该蛋白与酪蛋白激酶Ⅱ的β亚基特异性相互作用。该基因在相比邻近正常组织的结肠直肠癌的可变表达已经观察到,虽然表达水平与疾病的严重程度之间没有相关性已被发现。该基因共转录的小核仁RNA基因U21,它位于其第五内含子。作为典型编码核糖体蛋白的基因,有该基因通过基因组分散的多个经处理的假基因。 [由RefSeq的,2008年7月提供]
RPL5基因(以及对应的蛋白质)的细胞分布位置:
RPL5基因的本体(GO)信息:
名称 |
---|
3010 Ribosome [PATH:hsa03010] |
名称 |
---|
3' -UTR-mediated translational regulation |
Cap-dependent Translation Initiation |
Disease |
Eukaryotic Translation Elongation |
Eukaryotic Translation Initiation |
Eukaryotic Translation Termination |
Formation of a pool of free 40S subunits |
Gene Expression |
GTP hydrolysis and joining of the 60S ribosomal subunit |
Infectious disease |
Influenza Infection |
Influenza Life Cycle |
Influenza Viral RNA Transcription and Replication |
L13a-mediated translational silencing of Ceruloplasmin expression |
Metabolism of proteins |
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) |
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) |
Nonsense-Mediated Decay (NMD) |
Peptide chain elongation |
SRP-dependent cotranslational protein targeting to membrane |
Translation |
Viral mRNA Translation |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Aase Smith syndrome 2 | 0.24 | 2 | 0 | CTD_human_UNIPROT |
Anemia, Diamond-Blackfan | 0.129629949 | 8 | 0 | BeFree_GAD_LHGDN_ORPHANET |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 0.120271442 | 1 | 0 | BeFree_CTD_human |
Aase syndrome | 0.12 | 0 | 0 | CLINVAR |
Ovarian Cysts | 0.12 | 1 | 0 | CTD_human |
Multiple Sclerosis | 0.017383549 | 8 | 1 | BeFree_GAD |
Cleft Palate | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Congenital Abnormality | 0.001085767 | 4 | 0 | BeFree |
Diamond-Blackfan Anemia 1 | 0.000271442 | 1 | 0 | BeFree |
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