RPS14 (ribosomal protein S14)
- symbol:
- RPS14
- locus group:
- protein-coding gene
- location:
- 5q33.1
- gene_family:
- S ribosomal proteins
- alias symbol:
- EMTB|S14
- alias name:
- emetine resistance|40S ribosomal p…
- entrez id:
- 6208
- ensembl gene id:
- ENSG00000164587
- ucsc gene id:
- uc003lsi.4
- refseq accession:
- NM_001025071
- hgnc_id:
- HGNC:10387
- approved reserved:
- 2001-06-22
RPS14（核糖体蛋白S14）是核糖体小亚基40S的一个组成部分，属于核糖体蛋白（Ribosomal Proteins, RPs）基因家族。核糖体蛋白家族是一组高度保守的蛋白质，共同参与核糖体的组装和蛋白质翻译过程，对维持细胞正常功能至关重要。RPS14在核糖体中负责稳定rRNA结构并协助mRNA的准确解码，直接影响蛋白质合成的效率和准确性。该基因的主要作用位点是细胞质中的核糖体，其表达产物与其他核糖体蛋白及rRNA相互作用，共同完成翻译过程。RPS14的突变可能导致核糖体组装缺陷或功能异常，进而引发翻译错误或效率下降，影响细胞增殖和存活。研究发现，RPS14单倍体不足（haploinsufficiency）与5q-综合征（一种骨髓增生异常综合征）密切相关，患者表现为贫血和造血功能障碍，原因是RPS14表达降低导致红系祖细胞分化受阻。若RPS14过表达，可能干扰核糖体平衡，引发核应激反应（ribosomal stress），激活p53通路并诱导细胞凋亡；而表达降低则会导致核糖体生物发生（ribosome biogenesis）缺陷，影响快速增殖的细胞（如造血细胞）。此外，RPS14还参与调控其他基因的表达，例如通过影响翻译效率间接改变癌基因或抑癌基因的蛋白水平。该基因家族（RPs）的共性包括：高度保守的序列、在翻译中的核心作用、与rRNA的紧密结合能力，以及突变后常导致核糖体病（ribosomopathies）如Diamond-Blackfan贫血等。RPS14的功能研究为理解核糖体相关疾病和靶向治疗提供了重要线索。
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 S11P family of ribosomal proteins. It is located in the cytoplasm. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. In Chinese hamster ovary cells, mutations in this gene can lead to resistance to emetine, a protein synthesis inhibitor. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [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S11P家族核糖体的蛋白质。它位于细胞质中。利用替代转录起始位点的转录变体在文献中已有描述。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。在中国仓鼠卵巢细胞，在该基因的突变可导致抗吐根碱，蛋白质合成抑制剂。已发现了该基因编码的蛋白质相同的多个可变剪接转录变异体。 [由RefSeq的，2008年7月提供]
基因本体信息
RPS14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
RPS14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 |
| 5q-syndrome | 0.245157396 | 19 | 0 | BeFree_CTD_human_ORPHANET |
| Animal Mammary Neoplasms | 0.12 | 1 | 0 | CTD_human |
| Anoxia | 0.12 | 1 | 0 | CTD_human |
| Mammary Neoplasms, Experimental | 0.12 | 1 | 0 | CTD_human |
| Myelodysplastic Syndrome with Isolated del(5q) | 0.005157396 | 19 | 0 | BeFree |
| Chromosome 5, trisomy 5q | 0.005157396 | 19 | 0 | BeFree |
| Anemia, Diamond-Blackfan | 0.003995683 | 7 | 0 | BeFree_GAD |
| Malignant neoplasm of breast | 0.001085767 | 4 | 0 | BeFree |
| Anemia, Macrocytic | 0.001085767 | 4 | 0 | BeFree |
| Preleukemia | 0.000814326 | 3 | 0 | BeFree |
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