RPS4Y1 Gene - Ribosomal Protein S4 Y-Linked 1
A Y-chromosome-encoded ribosomal protein gene with roles in translation and male-specific biology
Gene Information Card
| Symbol | RPS4Y1 |
|---|---|
| Full Name | Ribosomal Protein S4 Y-Linked 1 |
| Gene Type | Protein coding |
| Chromosomal Location | Yp11.2 |
| NCBI Gene ID | 6192 ncbi.nlm.nih.gov/gene/6192 |
| Ensembl ID | ENSG00000129824 |
| UniProt ID | P22090 |
| OMIM ID | 470000 |
| HGNC ID | 10425 |
| Aliases | RPS4Y, S4, Y-linked ribosomal protein S4 |
Description
RPS4Y1 is a protein-coding gene located on the Y chromosome at Yp11.2. It encodes ribosomal protein S4 Y-linked 1, a component of the 40S ribosomal subunit involved in protein synthesis. This gene is expressed in a male-specific manner and has a functional X-linked homolog (RPS4X). RPS4Y1 plays a role in ribosome biogenesis and translation, and its expression is detected in various tissues, particularly in testis and other male reproductive organs.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Turner syndrome | Haploinsufficiency of Y-chromosomal genes including RPS4Y1 may contribute to phenotypic features in males with 45,X/46,XY mosaicism | Limited evidence; inferred from gene dosage effects |
| Male infertility | Altered expression of Y-linked ribosomal genes may affect spermatogenesis | Observational studies; low frequency |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Prostate | 8.2 | Low |
| Adrenal gland | 6.1 | Low |
| Thyroid | 5.4 | Low |
| Lung | 4.3 | Low |
| Spleen | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.5 | Cervical cancer cell line |
| K562 | 7.2 | Leukemia cell line |
| A549 | 6.8 | Lung cancer cell line |
| HEK293 | 5.9 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown; predicted benign |
| c.100C>T | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.100C>T) are predicted to cause premature termination and loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • translation (GO:0006412) |
| • cytosolic small ribosomal subunit (GO:0022627) | • ribosome (GO:0005840) |
Pathways
• Ribosome (KEGG: hsa03010)
• Eukaryotic translation initiation (Reactome: R-HSA-72613)
Protein Summary
Ribosomal protein S4 Y-linked 1 (UniProt P22090) is a 263-amino-acid protein component of the 40S ribosomal subunit. It belongs to the S4E family of ribosomal proteins and is involved in the initiation of translation. The protein contains a conserved S4 RNA-binding domain and is essential for ribosome assembly and function. Its expression is male-specific due to Y-chromosome linkage.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPS4Y1 Knockout HEK293 Cell Line | EDJ-KQ5689 | Human | 6192 | Details Get a Quote |
| RPS4Y1 Knockout A-549 Cell Line | EDJ-KQ29049 | Human | 6192 | Details Get a Quote |
| RPS4Y1 Knockout HCT 116 Cell Line | EDJ-KQ27791 | Human | 6192 | Details Get a Quote |
| RPS4Y1 Knockout HeLa Cell Line | EDJ-KQ54357 | Human | 6192 | Details Get a Quote |
