RPS18 (ribosomal protein S18)
- symbol:
- RPS18
- locus group:
- protein-coding gene
- location:
- 6p21.32
- gene_family:
- S ribosomal proteins
- alias symbol:
- KE3|KE-3|HKE3|S18
- alias name:
- None
- entrez id:
- 6222
- ensembl gene id:
- ENSG00000231500
- ucsc gene id:
- uc063zkv.1
- refseq accession:
- NM_022551
- hgnc_id:
- HGNC:10401
- approved reserved:
- 1993-06-23
RPS18（核糖体蛋白S18）是核糖体小亚基的组成蛋白之一，属于RPS基因家族（核糖体蛋白家族），该家族成员均为核糖体的结构组分，参与蛋白质翻译过程。RPS18在核糖体组装和mRNA解码中起关键作用，其表达产物与rRNA结合形成40S小亚基，确保翻译起始和延伸的准确性。主要作用位点为细胞质中的核糖体复合体。若RPS18发生突变（如错义突变或缺失），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（如5q-综合征）。该基因与迪亚蒙德-布莱克范贫血（Diamond-Blackfan anemia，DBA）相关，患者常伴有RPS家族基因突变导致的红细胞生成障碍。当RPS18过表达时，可能破坏核糖体亚基平衡，触发p53依赖的细胞周期阻滞（核糖体应激反应）；而低表达则导致翻译效率下降，影响细胞增殖。RPS基因家族的共性包括：高度保守性（从酵母到人类）、管家基因特性（持续基础表达）以及部分成员具备核糖体外功能（如调控凋亡）。需注意术语"核糖体应激"（ribosomal stress）指核糖体失衡激活的细胞应激通路，"解码"（decoding）特指核糖体读取mRNA密码子的过程。目前中文文献对"ribosomopathy"尚无统一译法，多直译为核糖体病。
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 40S subunit. The protein belongs to the S13P family of ribosomal proteins. It is located in the cytoplasm. The gene product of the E. coli ortholog (ribosomal protein S13) is involved in the binding of fMet-tRNA, and thus, in the initiation of translation. This gene is an ortholog of mouse Ke3. 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40S亚基的一个组成部分。该蛋白属于S13P家族核糖体的蛋白质。它位于细胞质中。大肠杆菌直向同源物（核糖体蛋白S13）基因产物参与fMet酰tRNA的结合，因此，在翻译起始。这个基因小鼠KE3的同源物。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]
基因本体信息
RPS18基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
RPS18基因的本体（GO）信息：
| 名称 |
|---|
| 3010 Ribosome [PATH:hsa03010] |
| 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 |
| 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 |
| Ribosomal scanning and start codon recognition |
| 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 |
| Lupus Erythematosus, Systemic | 0.002367032 | 1 | 0 | GAD |
| Colon Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Malignant tumor of colon | 0.000542884 | 2 | 0 | BeFree |
| Keloid | 0.000271442 | 1 | 0 | BeFree |
| Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
| Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
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