RPS29 (ribosomal protein S29)
- symbol:
- RPS29
- locus group:
- protein-coding gene
- location:
- 14q21.3
- gene_family:
- S ribosomal proteins
- alias symbol:
- S29|uS14
- alias name:
- None
- entrez id:
- 6235
- ensembl gene id:
- ENSG00000213741
- ucsc gene id:
- uc001wwm.5
- refseq accession:
- NM_001030001
- hgnc_id:
- HGNC:10419
- approved reserved:
- 1997-07-04
RPS29（核糖体蛋白S29）是核糖体小亚基的一个组成部分，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。RPS29在核糖体40S亚基中发挥作用，直接参与mRNA的识别和翻译起始，对维持细胞正常蛋白质合成至关重要。其表达产物（RPS29蛋白）具有典型的核糖体蛋白结构特征，如碱性氨基酸富集区，便于与rRNA结合。RPS29的突变可能导致核糖体组装异常或功能缺陷，进而影响全局蛋白质合成。在某些罕见病例中，RPS29突变与先天性骨髓衰竭综合征（如Diamond-Blackfan贫血，DBA）相关，这类疾病表现为红细胞生成障碍，原因是核糖体功能受损导致造血干细胞分化异常。此外，RPS29的异常表达（如过表达）可能通过干扰核糖体稳态引发癌症，因为许多肿瘤依赖核糖体生物合成加速来支持其快速增殖。相反，RPS29表达降低可能导致核糖体不足，触发核糖体应激（ribosome stress）和p53依赖的细胞周期阻滞或凋亡。该基因家族（RPs）的共性包括：1）进化上高度保守，从酵母到人类均有同源基因；2）多数为小分子量碱性蛋白；3）部分成员具有核糖体组装外的额外功能（如调控细胞凋亡或DNA修复）。需要注意的是，RPS29也可能通过非核糖体功能参与其他细胞过程，例如有研究提示某些核糖体蛋白可结合肿瘤抑制因子（如MDM2）影响p53通路。目前针对RPS29的研究仍在深入，其精确的翻译调控机制及病理作用尚未完全阐明。
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 and a member of the S14P family of ribosomal proteins. The protein, which contains a C2-C2 zinc finger-like domain that can bind to zinc, can enhance the tumor suppressor activity of Ras-related protein 1A (KREV1). 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, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]
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亚基的一个分量和S14P家族核糖体蛋白的成员。的蛋白，其包含可结合锌的C2-C2的锌指样结构域，可增强Ras相关蛋白1A（KREV1）的肿瘤抑制活性。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，有该基因通过基因组分散的多个经处理的假基因。已发现该基因编码不同亚型选择性剪接转录变异体。 [由RefSeq的，2013年3月提供]
基因本体信息
RPS29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
RPS29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 |
| Anemia, Diamond-Blackfan | 0.12 | 0 | 0 | ORPHANET |
| DIAMOND-BLACKFAN ANEMIA 13 | 0.12 | 1 | 0 | UNIPROT |
| Lung Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
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