RPS12 (ribosomal protein S12)
- symbol:
- RPS12
- locus group:
- protein-coding gene
- location:
- 6q23.2
- gene_family:
- S ribosomal proteins
- alias symbol:
- S12
- alias name:
- None
- entrez id:
- 6206
- ensembl gene id:
- ENSG00000112306
- ucsc gene id:
- uc003qdx.4
- refseq accession:
- NM_001016
- hgnc_id:
- HGNC:10385
- approved reserved:
- 1991-12-02
RPS12（核糖体蛋白S12）是核糖体小亚基的一个组成部分，属于核糖体蛋白（Ribosomal Proteins, RPs）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。RPS12在核糖体的结构稳定性和翻译准确性中起关键作用，它帮助mRNA的正确解码和氨酰-tRNA的定位。RPS12主要作用于细胞质中的核糖体，是蛋白质合成的核心机器之一。突变或异常表达可能影响核糖体功能，导致翻译错误或效率下降，进而引发一系列疾病。例如，RPS12的突变与先天性纯红细胞再生障碍性贫血（Diamond-Blackfan anemia, DBA）相关，这是一种以红细胞生成障碍为特征的罕见遗传病。此外，RPS12的异常表达还与某些癌症的发展有关，可能通过影响细胞增殖和凋亡途径。如果RPS12过表达，可能增强蛋白质合成速率，促进细胞生长，甚至导致肿瘤发生；而降低表达则可能抑制蛋白质合成，影响细胞正常功能，甚至触发细胞凋亡。RPS12属于核糖体蛋白S（RPS）家族，该家族成员均参与核糖体小亚基的组装和功能调控，具有高度保守的序列和结构特征。核糖体蛋白家族的共性包括参与翻译过程、维持核糖体稳定性以及与多种疾病（如癌症和遗传性疾病）的关联。RPS12的表达水平还可能影响其他基因的表达，尤其是那些依赖高效翻译的基因，从而间接调控细胞代谢、增殖和分化等过程。
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 40S subunit. The protein belongs to the S12E family of ribosomal proteins. It is located in the cytoplasm. Increased expression of this gene in colorectal cancers compared to matched normal colonic mucosa has been observed. 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S12E家族核糖体的蛋白质。它位于细胞质中。该基因在结直肠癌相比，配对的正常结肠黏膜的表达增加已被观察到。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
RPS12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
RPS12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 |
| Squamous cell carcinoma | 0.00272435 | 1 | 0 | LHGDN |
| Cervix carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Malignant tumor of cervix | 0.000542884 | 2 | 0 | BeFree |
| Stomach Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Tuberculosis | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of stomach | 0.000271442 | 1 | 0 | BeFree |
| Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
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