RPS9 (ribosomal protein S9)
- symbol:
- RPS9
- locus group:
- protein-coding gene
- location:
- 19q13.42
- gene_family:
- S ribosomal proteins
- alias symbol:
- S9
- alias name:
- 40S ribosomal protein S9
- entrez id:
- 6203
- ensembl gene id:
- ENSG00000170889
- ucsc gene id:
- uc002qdx.4
- refseq accession:
- NM_001013
- hgnc_id:
- HGNC:10442
- approved reserved:
- 1997-07-07
RPS9（核糖体蛋白S9）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），该家族成员均参与核糖体的组装及蛋白质翻译过程。RPS9在40S核糖体亚基中发挥结构支撑作用，并协助mRNA的识别与翻译起始，其表达产物为一种碱性蛋白，具有保守的RNA结合域，能稳定rRNA构象。主要作用位点为细胞质中的核糖体复合体，突变可能导致核糖体功能异常，例如翻译效率下降或错误率增加，进而影响细胞增殖、分化等基本生命活动。研究发现，RPS9突变与戴蒙德-布莱克范贫血（Diamond-Blackfan anemia，一种核糖体病）相关，表现为红细胞生成障碍；此外，其表达失调在多种癌症（如肝癌、乳腺癌）中也被检测到，可能与肿瘤细胞异常增殖有关。若RPS9过表达，可能通过增强蛋白质合成促进肿瘤进展，同时可能干扰其他核糖体蛋白的平衡；而低表达则可能导致核糖体组装缺陷，触发p53依赖的细胞周期阻滞或凋亡（核糖体应激反应）。RPS基因家族的共性包括：高度保守的序列、参与核糖体生物发生、多数为看家基因（housekeeping genes，维持细胞基本功能的必需基因）。专业术语解释：核糖体病（ribosomopathy）指核糖体蛋白或相关因子缺陷导致的疾病；核糖体应激（ribosomal stress）是核糖体功能受损时触发的细胞监控机制。目前中文术语"核糖体蛋白S9"为通用译名，无需额外标注英文。
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 S4P family of ribosomal proteins. It is located in the cytoplasm. 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. As is typical for genes encoding ribosomal proteins, multiple processed pseudogenes derived from this gene are 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S4P家族核糖体的蛋白质。它位于细胞质中。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。作为典型编码核糖体蛋白的基因，从该基因的多个经处理的假通过基因组分散。 [由RefSeq的，2008年7月提供]
基因本体信息
RPS9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
RPS9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 |
| Congenital chromosomal disease | 0.000271442 | 1 | 0 | BeFree |
| Takayasu Arteritis | 0.000271442 | 1 | 3 | BeFree |
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