RPS10 (ribosomal protein S10)
- symbol:
- RPS10
- locus group:
- protein-coding gene
- location:
- 6p21.31
- gene_family:
- S ribosomal proteins
- alias symbol:
- MGC88819|S10
- alias name:
- None
- entrez id:
- 6204
- ensembl gene id:
- ENSG00000124614
- ucsc gene id:
- uc003ojn.3
- refseq accession:
- NM_001014
- hgnc_id:
- HGNC:10383
- approved reserved:
- 1997-07-07
RPS10（核糖体蛋白S10）是核糖体小亚基的组成蛋白之一，属于RPS基因家族（核糖体蛋白家族），该家族成员普遍参与核糖体组装和蛋白质翻译过程。RPS10在细胞质中与rRNA结合形成40S核糖体亚基，直接参与mRNA解码和蛋白质合成，其功能对维持细胞稳态至关重要。若发生功能丧失突变（如错义突变或缺失），会导致核糖体组装异常，引发核糖体病（如Diamond-Blackfan贫血），表现为造血障碍、先天畸形等。该基因与多种癌症相关，在结直肠癌和肝癌中常出现过表达，可能通过激活PI3K-AKT通路促进肿瘤增殖；而表达降低则导致翻译效率下降，引发p53依赖的细胞凋亡。RPS家族共性包括：高度保守性、多数定位于细胞质、依赖协同调控网络维持表达平衡。过表达时可能破坏核糖体平衡，触发未折叠蛋白反应（UPR）；低表达则引发核糖体应激反应，通过RP-MDM2-p53通路抑制细胞周期。需要注意的是，"核糖体病"（ribosomopathy）是近年提出的概念，指核糖体功能异常导致的特定综合征。
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 S10E family of ribosomal proteins. 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. Alternate splicing results in multiple transcript variants that encode the same protein. Naturally occurring read-through transcription occurs between this locus and the neighboring locus NUDT3 (nudix (nucleoside diphosphate linked moiety X)-type motif 3).[provided by RefSeq, Feb 2011]
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S10E家族核糖体的蛋白质。它位于细胞质中。可变expressio该基因在相比邻近正常组织的结肠直肠癌的n个已观察到，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。选择性剪接的结果在多个转录变异体，其编码相同的蛋白质。该位点和邻近的轨迹NUDT3（Nudix结构（二磷酸核苷挂钩部分X）型图案3）之间发生的自然发生通读转录。[由RefSeq的，2011年2月提供]
基因本体信息
RPS10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
RPS10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 |
| Diamond-Blackfan Anemia 9 | 0.24 | 0 | 0 | CLINVAR_CTD_human |
| Anemia, Diamond-Blackfan | 0.120814326 | 3 | 0 | BeFree_ORPHANET |
| Schizophrenia | 0.00272435 | 1 | 0 | LHGDN |
| Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Hepatitis B | 0.000271442 | 1 | 0 | BeFree |
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