RPS9: Ribosomal Protein S9 – A Core Component of the Small Ribosomal Subunit
Essential for protein synthesis and implicated in Diamond-Blackfan anemia and cancer
Gene Information Card
| Symbol | RPS9 |
|---|---|
| Full Name | Ribosomal Protein S9 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 6203 ncbi.nlm.nih.gov/gene/6203 |
| Ensembl ID | ENSG00000170889 |
| UniProt ID | P46781 |
| OMIM ID | 603632 |
| HGNC ID | 10442 |
| Aliases | S9, eS9, MGC111064 |
Description
RPS9 encodes ribosomal protein S9, a component of the 40S small ribosomal subunit. This protein is essential for mRNA translation and ribosome biogenesis. Mutations in RPS9 are associated with Diamond-Blackfan anemia (DBA), a rare bone marrow failure syndrome, and altered expression is observed in various cancers. The gene is located on chromosome 19q13.42 and is highly conserved across eukaryotes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia | Loss-of-function mutations impair ribosome assembly, leading to defective erythropoiesis and bone marrow failure. | ClinVar, OMIM |
| Colorectal cancer | Overexpression of RPS9 promotes cell proliferation and correlates with poor prognosis. | COSMIC, PubMed |
| Hepatocellular carcinoma | Upregulation of RPS9 enhances translation of oncogenic mRNAs, contributing to tumor growth. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 28.5 | High |
| Liver | 22.3 | High |
| Colon | 18.7 | Medium |
| Brain | 12.1 | Medium |
| Heart | 9.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 35.2 | High expression in embryonic kidney cells |
| HepG2 | 30.1 | High expression in liver cancer cells |
| HCT116 | 25.8 | High expression in colorectal cancer cells |
| K562 | 20.4 | Medium expression in leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3G>A (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.184C>T (p.Arg62Trp) | Missense | Rare | Impaired ribosome assembly, associated with DBA |
| c.346_348del (p.Lys116del) | In-frame deletion | Rare | Disrupts protein structure, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most RPS9 mutations in Diamond-Blackfan anemia are loss-of-function, leading to haploinsufficiency and defective ribosome biogenesis.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in RPS9.
Dominant Negative (DN)
Not established; DBA mutations are typically haploinsufficient rather than dominant negative.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome | • translation |
| • ribosome biogenesis | • cytoplasmic translation |
| • small ribosomal subunit |
Pathways
• Eukaryotic translation initiation
• Ribosome biogenesis in eukaryotes
• rRNA processing
Protein Summary
Ribosomal protein S9 (RPS9) is a 194-amino-acid protein (22.6 kDa) that forms part of the 40S small ribosomal subunit. It directly interacts with rRNA and other ribosomal proteins to facilitate mRNA binding and translation initiation. RPS9 is highly conserved and ubiquitously expressed. Post-translational modifications include phosphorylation and acetylation, which may regulate ribosome function. Structural studies show that RPS9 is located near the mRNA exit channel of the ribosome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPS9 Knock-in PC-9 Stable Cell Line | EDC90007 | Human | 6203 | Details Get a Quote |
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