RPL29 (ribosomal protein L29)
- symbol:
- RPL29
- locus group:
- protein-coding gene
- location:
- 3p21.2
- gene_family:
- L ribosomal proteins
- alias symbol:
- HIP|HUMRPL29|L29
- alias name:
- 60S ribosomal protein L29|heparin/…
- entrez id:
- 6159
- ensembl gene id:
- ENSG00000162244
- ucsc gene id:
- uc003dcs.4
- refseq accession:
- NM_000992
- hgnc_id:
- HGNC:10331
- approved reserved:
- 1997-02-03
RPL29（核糖体蛋白L29）是核糖体大亚基的重要组成部分，属于RPL（核糖体蛋白L）基因家族。该家族编码的蛋白质普遍参与核糖体组装和蛋白质翻译过程，维持细胞基础功能。RPL29在核糖体60S亚基中发挥作用，直接参与mRNA解码和肽键形成，其表达水平与细胞增殖密切相关。该基因的突变可能导致核糖体组装异常，引发翻译效率下降或错误，进而影响细胞生长、分化等基本生命活动。研究发现RPL29表达异常与多种癌症相关，例如在乳腺癌中常出现过表达，可能通过促进肿瘤细胞快速增殖参与癌症进展；而在某些遗传性疾病如Diamond-Blackfan贫血中，RPL家族基因突变会导致红细胞生成障碍。当RPL29过表达时，可能增强整体蛋白质合成速率，刺激细胞异常增殖；而表达降低则可能导致核糖体功能缺陷，触发核糖体应激反应（ribosomal stress），激活p53通路诱导细胞周期停滞或凋亡。值得注意的是，核糖体蛋白家族成员（如RPL5、RPL11等）在核糖体生物发生（ribosome biogenesis）受阻时，会释放游离蛋白调控MDM2-p53通路，这表明RPL29可能也参与这一肿瘤抑制机制。目前针对RPL29的研究主要集中在癌症领域，其过表达可能成为某些肿瘤的诊断标志物，但具体调控机制和靶向治疗潜力仍需进一步探索。
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 cytoplasmic ribosomal protein that is a component of the 60S subunit. The protein belongs to the L29E family of ribosomal proteins. The protein is also a peripheral membrane protein expressed on the cell surface that directly binds heparin. Although this gene was previously reported to map to 3q29-qter, it is believed that it is located at 3p21.3-p21.2. 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。这个基因编码细胞质核糖体蛋白，它是60S亚基的一个组成部分。该蛋白属于L29E家族核糖体的蛋白质。蛋白质也是直接结合肝素的细胞表面上表达的外周膜蛋白。虽然该基因先前报告映射到3q29-qter，据信，它是位于于3p21.3-p21.2。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
RPL29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
RPL29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 |
| Colonic Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Malignant neoplasm of liver | 0.000542884 | 2 | 0 | BeFree |
| Neoplasm Metastasis | 0.000542884 | 2 | 0 | BeFree |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.000542884 | 2 | 0 | BeFree |
| Diabetes Mellitus | 0.000542884 | 2 | 0 | BeFree |
| Diabetes | 0.000542884 | 2 | 0 | BeFree |
| Malignant tumor of colon | 0.000542884 | 2 | 0 | BeFree |
| Colon Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
| Colorectal Carcinoma | 0.000542884 | 2 | 0 | BeFree |
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