RPS4Y1 (ribosomal protein S4 Y-linked 1)
- symbol:
- RPS4Y1
- locus group:
- protein-coding gene
- location:
- Yp11.2
- gene_family:
- S ribosomal proteins|minor histocompatibility antigens
- alias symbol:
- MGC5070|MGC119100|S4
- alias name:
- ribosomal protein S4Y|40S ribosoma…
- entrez id:
- 6192
- ensembl gene id:
- ENSG00000129824
- ucsc gene id:
- uc004fqi.4
- refseq accession:
- NM_001008
- hgnc_id:
- HGNC:10425
- approved reserved:
- 1991-08-08
RPS4Y1（核糖体蛋白S4 Y连锁1）是位于Y染色体上的核糖体蛋白基因，属于RPS4基因家族。该家族成员编码核糖体小亚基的S4蛋白，参与核糖体组装和蛋白质翻译过程。RPS4Y1主要在男性细胞中表达，其编码的S4蛋白是40S核糖体亚基的关键组分，负责mRNA的识别和翻译起始。该基因的突变可能导致核糖体功能异常，影响蛋白质合成效率，甚至引发 Diamond-Blackfan贫血（一种罕见的先天性骨髓衰竭综合征）。研究发现RPS4Y1与某些癌症（如前列腺癌）的发生发展相关，可能通过影响细胞增殖通路发挥作用。当RPS4Y1过表达时，可能促进细胞异常增殖；而表达降低则可能导致蛋白质合成障碍。值得注意的是，RPS4Y1在X染色体上有其同源基因RPS4X，二者共同维持核糖体功能，但RPS4Y1具有男性特异性表达模式。由于位于Y染色体，该基因的缺失或异常可能导致男性生育问题。核糖体蛋白基因家族的共性在于它们都编码核糖体结构组分，参与蛋白质生物合成这一基础生命过程，对细胞生长和增殖至关重要。这类基因通常高度保守，在不同物种间具有相似的结构和功能。
Cytoplasmic ribosomes, 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 ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one gene, namely this gene and ribosomal protein S4, X-linked (RPS4X). The 2 isoforms encoded by these genes are not identical, but are functionally equivalent. Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial. 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]
细胞质核糖体，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。该基因编码核糖体蛋白S4中，40S亚基的一个组成部分。核糖体蛋白S4是已知由一个以上的基因，即该基因与核糖体蛋白S4中，X-连锁（RPS4X）进行编码的唯一核糖体蛋白。 2同种型由这些基因编码的是不相同的，但在功能上是等价的。核糖体蛋白S4属于S4E家庭核糖体蛋白的。有人建议，该核糖体蛋白S4基因的单倍不足起着特纳综合征的作用;然而，这种假设是有争议的。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
RPS4Y1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
RPS4Y1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 |
| Turner Syndrome | 0.000542884 | 2 | 0 | BeFree |
| Anxiety Disorders | 0.000271442 | 1 | 0 | BeFree |
| Benign Prostatic Hyperplasia | 0.000271442 | 1 | 0 | BeFree |
| Parkinson Disease | 0.000271442 | 1 | 0 | BeFree |
| Autistic behavior | 0.000271442 | 1 | 0 | BeFree |
| 47, XYY syndrome | 0.000271442 | 1 | 0 | BeFree |
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