RPS6(核糖体蛋白S6)是核糖体40S小亚基的重要组成部分,属于RPS(核糖体蛋白小亚基)基因家族。该家族成员普遍参与核糖体组装和蛋白质翻译过程,其共性是与rRNA结合形成核糖体结构,直接调控mRNA的翻译效率。RPS6的生物学功能集中在促进核糖体生物发生和蛋白质合成,尤其在细胞生长、增殖和代谢中起核心作用。它的主要作用位点是细胞质中的核糖体,但磷酸化后的RPS6可进入细胞核调控特定基因转录。当RPS6发生突变时,可能导致核糖体功能异常,引发核糖体病(ribosomopathy),典型表现为发育迟缓、贫血或癌症易感性。例如,DBA(Diamond-Blackfan贫血)患者中已发现RPS6突变导致红细胞生成障碍。该基因与mTOR信号通路密切关联,其磷酸化状态(即激活形式)受mTORC1调控,因此过表达会增强蛋白质合成,促进细胞增殖,常见于多种肿瘤(如乳腺癌、肝癌);而低表达则导致翻译效率下降,影响组织再生或胚胎发育。在基因家族层面,RPS6与其他RPS成员协同维持核糖体结构完整性,但独特之处在于其作为mTOR通路下游效应分子,能整合生长信号与翻译调控。目前中文术语"核糖体蛋白S6"为规范译名,无显著争议。
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。这个基因编码细胞质核糖体蛋白,它是40S亚基的一个组成部分。该蛋白属于S6E家族核糖体的蛋白质。它是在核糖体的蛋白激酶的主要底物,具有由不同的蛋白激酶磷酸化5 C-末端丝氨酸残基的子集。磷酸化是由广泛的刺激,包括生长因子,肿瘤促进剂,以及促分裂原诱导的。去磷酸化发生在生长停滞。该蛋白可能有助于细胞生长和增殖的通过特定类别的mRNA的选择性翻译的控制。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]
RPS6基因(以及对应的蛋白质)的细胞分布位置:
RPS6基因的本体(GO)信息:
| 名称 |
|---|
| 3010 Ribosome [PATH:hsa03010] |
| 4066 HIF-1 signaling pathway [PATH:hsa04066] |
| 4151 PI3K-Akt signaling pathway [PATH:hsa04151] |
| 4150 mTOR signaling pathway [PATH:hsa04150] |
| 4910 Insulin signaling pathway [PATH:hsa04910] |
| 5205 Proteoglycans in cancer [PATH:hsa05205] |
| 名称 |
|---|
| 3' -UTR-mediated translational regulation |
| Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S |
| Cap-dependent Translation Initiation |
| Disease |
| Eukaryotic Translation Elongation |
| Eukaryotic Translation Initiation |
| Eukaryotic Translation Termination |
| Formation of a pool of free 40S subunits |
| Formation of the ternary complex, and subsequently, the 43S complex |
| Gene Expression |
| GTP hydrolysis and joining of the 60S ribosomal subunit |
| IGF1R signaling cascade |
| Infectious disease |
| Influenza Infection |
| Influenza Life Cycle |
| Influenza Viral RNA Transcription and Replication |
| Insulin receptor signalling cascade |
| IRS-mediated signalling |
| IRS-related events |
| IRS-related events triggered by IGF1R |
| L13a-mediated translational silencing of Ceruloplasmin expression |
| Metabolism of proteins |
| mTOR signalling |
| mTORC1-mediated signalling |
| 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 |
| PI3K Cascade |
| PKB-mediated events |
| Ribosomal scanning and start codon recognition |
| S6K1 signalling |
| S6K1-mediated signalling |
| Signaling by Insulin receptor |
| Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) |
| SRP-dependent cotranslational protein targeting to membrane |
| Translation |
| Translation initiation complex formation |
| Viral mRNA Translation |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Liver carcinoma | 0.120542884 | 3 | 0 | BeFree_CTD_human |
| Disease Progression | 0.12 | 1 | 0 | CTD_human |
| Mammary Neoplasms | 0.12 | 1 | 0 | CTD_human |
| Stomach Neoplasms | 0.12 | 1 | 0 | CTD_human |
| Tuberous Sclerosis | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Motor Neuron Disease | 0.00272435 | 1 | 0 | LHGDN |
| Coffin-Lowry syndrome | 0.000814326 | 3 | 0 | BeFree |
| Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Alzheimer's Disease | 0.000271442 | 1 | 0 | BeFree |
| Leukemia, Myelocytic, Acute | 0.000271442 | 1 | 0 | BeFree |
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