RPS20: Ribosomal Protein S20 – A Key Player in Ribosome Biogenesis and Diamond-Blackfan Anemia
Comprehensive genomic and proteomic overview of RPS20, including its role in ribosome assembly, disease associations, expression profiles, and mutational landscape.
Gene Information Card
| Symbol | RPS20 |
|---|---|
| Full Name | Ribosomal Protein S20 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q12.1 |
| NCBI Gene ID | 6224 ncbi.nlm.nih.gov/gene/6224 |
| Ensembl ID | ENSG00000108988 |
| UniProt ID | P60866 |
| OMIM ID | 603682 |
| HGNC ID | 10405 |
| Aliases | S20, uS10 |
Description
RPS20 (Ribosomal Protein S20) encodes a component of the small 40S ribosomal subunit. The protein belongs to the S20E family of ribosomal proteins and is essential for ribosome assembly, translation initiation, and overall protein synthesis. RPS20 is located in the cytoplasm and nucleolus. Mutations in RPS20 are associated with Diamond-Blackfan anemia (DBA), a rare congenital bone marrow failure syndrome characterized by erythroid aplasia and increased cancer risk. Somatic alterations have also been reported in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia 14 (DBA14) | Loss-of-function mutations in RPS20 impair ribosome biogenesis, leading to nucleolar stress, p53 activation, and selective failure of erythroid progenitor cells. | OMIM #618315; ClinVar; PMID: 24675553 |
| Colorectal cancer | Somatic missense mutations and copy number alterations in RPS20 have been identified in colorectal tumors, potentially affecting translation fidelity and cell proliferation. | COSMIC; PMID: 28138146 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 17.8 | Medium |
| Kidney | 16.2 | Medium |
| Heart | 14.5 | Medium |
| Brain | 12.1 | Medium |
| Testis | 20.3 | High |
| Lung | 13.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.5 | Cervical adenocarcinoma cell line; high expression |
| HEK 293 | 19.8 | Embryonic kidney cells; medium-high expression |
| K562 | 18.1 | Chronic myelogenous leukemia; medium expression |
| HepG2 | 17.3 | Hepatocellular carcinoma; medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3G>A (p.Met1?) | Start loss | Rare | Loss of translation initiation; associated with Diamond-Blackfan anemia |
| c.262C>T (p.Arg88Cys) | Missense | Somatic (colorectal cancer) | Unknown; predicted to affect protein stability |
| c.94_96del (p.Lys32del) | In-frame deletion | Somatic (colorectal cancer) | Unknown; may alter ribosome assembly |
Mutation functional classification
Loss of Function (LOF)
Start-loss and nonsense mutations in RPS20 lead to haploinsufficiency, reducing the availability of functional ribosomal protein S20 and impairing ribosome biogenesis, as seen in Diamond-Blackfan anemia.
Gain of Function (GOF)
No gain-of-function mutations have been reported for RPS20.
Dominant Negative (DN)
No dominant-negative mutations have been described for RPS20.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • translation (GO:0006412) |
| • cytosolic small ribosomal subunit (GO:0022627) | • ribosome biogenesis (GO:0042254) |
| • nucleolus (GO:0005730) |
Pathways
• Ribosome (KEGG hsa03010)
• Eukaryotic translation initiation (Reactome R-HSA-72649)
• rRNA processing in the nucleus and cytosol (Reactome R-HSA-8868773)
Protein Summary
Ribosomal protein S20 (uS10) is a 119-amino-acid protein (13.4 kDa) that localizes to the small ribosomal subunit. It contains a conserved S20E domain and is involved in mRNA binding and ribosome assembly. The protein interacts with 18S rRNA and other ribosomal proteins. Post-translational modifications include phosphorylation at Serine 15, which may regulate ribosome function. RPS20 is ubiquitously expressed, with highest levels in testis and liver.
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