RPL3 (ribosomal protein L3)
- symbol:
- RPL3
- locus group:
- protein-coding gene
- location:
- 22q13.1
- gene_family:
- L ribosomal proteins
- alias symbol:
- L3
- alias name:
- None
- entrez id:
- 6122
- ensembl gene id:
- ENSG00000100316
- ucsc gene id:
- uc003axi.4
- refseq accession:
- NM_000967
- hgnc_id:
- HGNC:10332
- approved reserved:
- 1990-07-03
RPL3（核糖体蛋白L3）是核糖体大亚基的组成蛋白之一，属于RPL基因家族（核糖体蛋白家族），该家族成员均参与核糖体组装及蛋白质翻译过程。RPL3在细胞质中与rRNA结合，形成60S核糖体亚基，其核心功能是维持核糖体结构稳定性并催化肽键形成（翻译延伸阶段的关键步骤）。该基因表达产物具有高度保守性，其突变可能导致核糖体组装异常，引发核糖体病（如Diamond-Blackfan贫血），表现为造血功能障碍或发育迟缓。研究发现RPL3与p53通路相互作用，其低表达会激活p53依赖的细胞周期阻滞，抑制肿瘤生长；而过表达可能通过增强蛋白质合成促进癌细胞增殖。在结直肠癌和乳腺癌中常见RPL3拷贝数增加，与化疗耐药性相关。RPL家族共性包括：均含碱性氨基酸结构域以结合rRNA，多数定位于核仁参与核糖体前体加工，且表达水平受mTOR信号通路调控。若RPL3表达异常（如敲除实验），会导致核糖体应激反应（ribosomal stress），触发核仁应激通路，影响细胞增殖或凋亡。此外，RPL3单核苷酸多态性（SNP）可能与神经退行性疾病风险相关，但机制尚不明确。专业术语解释：核糖体（ribosome）—蛋白质合成工厂；核糖体病（ribosomopathy）—核糖体功能缺陷导致的疾病；mTOR—调控细胞生长的关键激酶。
Ribosomes, the complexes 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 60S subunit. The protein belongs to the L3P family of ribosomal proteins and it is located in the cytoplasm. The protein can bind to the HIV-1 TAR mRNA, and it has been suggested that the protein contributes to tat-mediated transactivation. This gene is co-transcribed with several small nucleolar RNA genes, which are located in several of this gene's introns. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 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，催化合成蛋白质复合物，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60S亚基的一个组成部分。该蛋白属于L3P家族核糖体蛋白，它是位于细胞质中。蛋白质可以结合到HIV-1的TAR的mRNA，并且它已经表明该蛋白质有助于达介导的反式激活。该基因共同转录与几个核仁小分子RNA基因，分别位于几个这种基因的内含子。备用转录剪接变体，编码不同同种型，已经表征。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
RPL3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
RPL3基因的本体（GO）信息：
| 名称 |
|---|
| 3010 Ribosome [PATH:hsa03010] |
| 名称 |
|---|
| 3' -UTR-mediated translational regulation |
| Cap-dependent Translation Initiation |
| Disease |
| Eukaryotic Translation Elongation |
| Eukaryotic Translation Initiation |
| Eukaryotic Translation Termination |
| Formation of a pool of free 40S subunits |
| 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 |
| SRP-dependent cotranslational protein targeting to membrane |
| Translation |
| Viral mRNA Translation |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Mammary Neoplasms, Experimental | 0.12 | 1 | 0 | CTD_human |
| Animal Mammary Neoplasms | 0.12 | 1 | 0 | CTD_human |
| Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
| Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Down Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Q fever endocarditis | 0.000271442 | 1 | 0 | BeFree |
| NIEMANN-PICK DISEASE, TYPE C2 | 0.000271442 | 1 | 0 | BeFree |
| Myopathies, Nemaline | 0.000271442 | 1 | 0 | BeFree |
| Mycoses | 0.000271442 | 1 | 0 | BeFree |
| Tuberculosis | 0.000271442 | 1 | 0 | BeFree |
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