RPL28: Ribosomal Protein L28 – A Core Component of the 60S Ribosomal Subunit
Essential structural constituent of the large ribosomal subunit involved in protein synthesis; implicated in Diamond-Blackfan anemia and cancer
Gene Information Card
| Symbol | RPL28 |
|---|---|
| Full Name | Ribosomal Protein L28 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 6158 ncbi.nlm.nih.gov/gene/6158 |
| Ensembl ID | ENSG00000105639 |
| UniProt ID | P46779 |
| OMIM ID | 603637 |
| HGNC ID | 10330 |
| Aliases | L28, eL28 |
Description
RPL28 encodes ribosomal protein L28, a component of the 60S large ribosomal subunit. This protein is a structural constituent of the ribosome and plays a fundamental role in mRNA translation and protein synthesis. RPL28 belongs to the L28E family of ribosomal proteins and is evolutionarily conserved. Mutations in RPL28 have been associated with Diamond-Blackfan anemia (DBA), a rare bone marrow failure syndrome, and altered expression is observed in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia | Loss-of-function mutations in RPL28 impair ribosome biogenesis, leading to defective erythropoiesis and bone marrow failure. | ClinVar, OMIM |
| Colorectal cancer | RPL28 overexpression is observed in colorectal tumors; may contribute to increased protein synthesis and cell proliferation. | COSMIC, NCBI |
| Breast cancer | Altered RPL28 expression linked to tumor progression and poor prognosis. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 24.5 | High |
| Kidney | 18.2 | Medium |
| Heart | 15.8 | Medium |
| Brain | 12.1 | Medium |
| Lung | 10.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.1 | High expression in embryonic kidney cells |
| HeLa | 19.4 | High expression in cervical cancer cells |
| K562 | 16.7 | Moderate expression in leukemia cells |
| MCF7 | 14.3 | Moderate expression in breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.95A>G (p.Tyr32Cys) | Missense | Rare | Unknown functional effect; reported in DBA patients |
| c.175C>T (p.Arg59Trp) | Missense | Rare | Likely loss-of-function; associated with DBA |
| c.284_285del (p.Glu95fs) | Frameshift | Rare | Loss-of-function; causes premature truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in RPL28 lead to haploinsufficiency, impairing ribosome assembly and causing Diamond-Blackfan anemia.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported for RPL28.
Dominant Negative (DN)
Not established for RPL28; most pathogenic mutations are loss-of-function.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome | • translation |
| • ribosome biogenesis | • cytoplasmic translation |
| • large ribosomal subunit |
Pathways
• Eukaryotic translation initiation
• Ribosome biogenesis in eukaryotes
• mRNA surveillance pathway
Protein Summary
Ribosomal protein L28 (RPL28) is a 137-amino-acid protein (15.7 kDa) located in the cytoplasm as part of the 60S ribosomal subunit. It directly binds rRNA and contributes to the structural integrity of the ribosome. RPL28 is highly conserved across eukaryotes and is essential for accurate mRNA translation. Post-translational modifications include acetylation and phosphorylation, which may regulate its function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPL28 Knockout HEK293 Cell Line | EDJ-KQ50581 | Human | 6158 | Details Get a Quote |
| RPL28 Knockout HeLa Cell Line | EDJ-KQ54349 | Human | 6158 | Details Get a Quote |
| RPL28 Knockout A-549 Cell Line | EDJ-KQ62845 | Human | 6158 | Details Get a Quote |
| RPL28 Knockout HCT 116 Cell Line | EDJ-KQ71311 | Human | 6158 | Details Get a Quote |
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