RPS17: Ribosomal Protein S17 – A Key Component of the Small Ribosomal Subunit
Essential for protein synthesis and implicated in Diamond-Blackfan anemia and cancer
Gene Information Card
| Symbol | RPS17 |
|---|---|
| Full Name | Ribosomal Protein S17 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q25.2 |
| NCBI Gene ID | 6218 ncbi.nlm.nih.gov/gene/6218 |
| Ensembl ID | ENSG00000137801 |
| UniProt ID | P08708 |
| OMIM ID | 180472 |
| HGNC ID | 10397 |
| Aliases | RPS17L, S17, uS11 |
Description
RPS17 encodes ribosomal protein S17, a component of the 40S small ribosomal subunit. This protein is essential for mRNA translation and ribosome biogenesis. Mutations in RPS17 are associated with Diamond-Blackfan anemia (DBA), a rare 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 in RPS17 impair ribosome assembly, leading to defective erythropoiesis and p53-mediated apoptosis of erythroid progenitors. | OMIM #180472; ClinVar; NCBI Gene |
| Colorectal cancer | Somatic mutations and altered expression of RPS17 have been reported in colorectal tumors, potentially affecting translation fidelity and cell proliferation. | COSMIC; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | Medium |
| Lymph Node | 10.8 | Medium |
| Spleen | 9.2 | Medium |
| Liver | 7.1 | Low |
| Brain | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.2 | High expression |
| HeLa (cervical cancer) | 11.4 | Medium expression |
| HEK293 (embryonic kidney) | 9.8 | Medium expression |
| HepG2 (liver cancer) | 6.5 | Low expression |
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, likely loss of function |
| c.3G>A (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.94C>T (p.Arg32*) | Nonsense | Rare | Premature stop, loss of function |
| c.161_162delAG (p.Glu54fs) | Frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most RPS17 mutations in Diamond-Blackfan anemia are loss-of-function, leading to haploinsufficiency and impaired ribosome biogenesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for RPS17.
Dominant Negative (DN)
No dominant-negative mutations have been described for RPS17.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • translation (GO:0006412) |
| • cytosolic small ribosomal subunit (GO:0022627) | • cytoplasmic translation (GO:0002181) |
Pathways
• KEGG: hsa03010 – Ribosome
• Reactome: R-HSA-156902 – Peptide chain elongation
• Reactome: R-HSA-927802 – Nonsense-Mediated Decay (NMD)
Protein Summary
Ribosomal protein S17 (RPS17) is a 135-amino-acid protein that forms part of the 40S small ribosomal subunit. It is highly conserved across eukaryotes and plays a critical role in mRNA binding and translation initiation. RPS17 interacts with rRNA and other ribosomal proteins to maintain ribosome integrity. Mutations cause Diamond-Blackfan anemia, and altered expression is observed in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPS17 Knockout HEK293 Cell Line | EDJ-KQ50592 | Human | 6218 | Details Get a Quote |
| MRPS17 Knockout HEK293 Cell Line | EDJ-KQ51312 | Human | 51373 | Details Get a Quote |
| RPS17 Knockout HeLa Cell Line | EDJ-KQ54361 | Human | 6218 | Details Get a Quote |
| MRPS17 Knockout HeLa Cell Line | EDJ-KQ56300 | Human | 51373 | Details Get a Quote |
| RPS17 Knockout A-549 Cell Line | EDJ-KQ62857 | Human | 6218 | Details Get a Quote |
| MRPS17 Knockout A-549 Cell Line | EDJ-KQ64789 | Human | 51373 | Details Get a Quote |
| RPS17 Knockout HCT 116 Cell Line | EDJ-KQ71322 | Human | 6218 | Details Get a Quote |
| MRPS17 Knockout HCT 116 Cell Line | EDJ-KQ73235 | Human | 51373 | Details Get a Quote |
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