RPS28: Ribosomal Protein S28
A core component of the small ribosomal subunit involved in mRNA translation and Diamond-Blackfan anemia
Gene Information Card
| Symbol | RPS28 |
|---|---|
| Full Name | Ribosomal Protein S28 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 6234 ncbi.nlm.nih.gov/gene/6234 |
| Ensembl ID | ENSG00000105372 |
| UniProt ID | P62857 |
| OMIM ID | 603634 |
| HGNC ID | 10418 |
| Aliases | S28, eS28 |
Description
RPS28 encodes ribosomal protein S28, a component of the 40S small ribosomal subunit. This protein is essential for ribosome assembly and mRNA translation. Mutations in RPS28 are associated with Diamond-Blackfan anemia, a congenital bone marrow failure syndrome characterized by red cell aplasia and increased cancer risk.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia | Loss-of-function mutations impair ribosome biogenesis, leading to defective erythropoiesis | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 15.2 | Medium |
| Spleen | 12.8 | Medium |
| Lymph node | 11.5 | Medium |
| Testis | 10.9 | Medium |
| Brain | 8.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (erythroleukemia) | 18.1 | High expression |
| HeLa (cervical carcinoma) | 14.5 | Medium |
| HEK293 (embryonic kidney) | 13.2 | Medium |
| HepG2 (hepatocellular carcinoma) | 11.0 | Medium |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Loss of start codon, reduced protein expression |
| c.2T>C (p.Met1?) | missense | Rare | Loss of start codon, reduced protein expression |
| c.3G>A (p.Met1?) | missense | Rare | Loss of start codon, reduced protein expression |
Mutation functional classification
Loss of Function (LOF)
Mutations in RPS28 lead to haploinsufficiency, reducing functional ribosome number and impairing translation in erythroid progenitors.
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)
| • ribosome biogenesis | • translation |
| • cytoplasmic translation | • rRNA binding |
| • structural constituent of ribosome |
Pathways
• Eukaryotic translation initiation
• Ribosome biogenesis in eukaryotes
• rRNA processing
Protein Summary
Ribosomal protein S28 (RPS28) is a 69-amino-acid protein that forms part of the small ribosomal subunit. It is highly conserved across eukaryotes and is essential for ribosome assembly and translation fidelity. RPS28 interacts with rRNA and other ribosomal proteins to stabilize the 40S subunit.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPS28 Knockout HEK293 Cell Line | EDJ-KQ50597 | Human | 6234 | Details Get a Quote |
| RPS28 Knockout HeLa Cell Line | EDJ-KQ54366 | Human | 6234 | Details Get a Quote |
| RPS28 Knockout A-549 Cell Line | EDJ-KQ62862 | Human | 6234 | Details Get a Quote |
| RPS28 Knockout HCT 116 Cell Line | EDJ-KQ71327 | Human | 6234 | Details Get a Quote |
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