RPS24: Ribosomal Protein S24 – A Key Component of the Small Ribosomal Subunit
Comprehensive genomic and proteomic overview of RPS24, including its role in Diamond-Blackfan anemia and ribosomal biogenesis.
Gene Information Card
| Symbol | RPS24 |
|---|---|
| Full Name | Ribosomal Protein S24 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q22.3 |
| NCBI Gene ID | 6229 ncbi.nlm.nih.gov/gene/6229 |
| Ensembl ID | ENSG00000138107 |
| UniProt ID | P62847 |
| OMIM ID | 602412 |
| HGNC ID | 10411 |
| Aliases | S24, eS24 |
Description
RPS24 encodes ribosomal protein S24, a component of the 40S small ribosomal subunit. This protein is essential for ribosome assembly and translation initiation. Mutations in RPS24 are associated with Diamond-Blackfan anemia (DBA), a congenital bone marrow failure syndrome characterized by erythroid aplasia and increased cancer risk. RPS24 belongs to the S24E family of ribosomal proteins and is evolutionarily conserved.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia | Haploinsufficiency of RPS24 impairs ribosome biogenesis, leading to defective erythropoiesis and p53-mediated apoptosis of erythroid progenitors. | ClinVar, OMIM |
| Colorectal cancer | Somatic mutations and altered expression of RPS24 have been observed in colorectal tumors, potentially affecting translation fidelity and cell proliferation. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lymph node | 10.8 | Medium |
| Spleen | 9.2 | Medium |
| Testis | 8.7 | Medium |
| Brain | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 14.3 | High expression |
| HeLa (cervical) | 11.0 | Moderate expression |
| HEK293 (embryonic kidney) | 10.5 | Moderate expression |
| HepG2 (liver) | 9.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression; associated with DBA |
| c.70C>T (p.Arg24*) | Nonsense | Rare | Premature truncation; loss of function in DBA |
| c.202_203delAG (p.Ser68fs) | Frameshift | Rare | Frameshift leading to nonsense-mediated decay; DBA |
| c.284G>A (p.Arg95His) | Missense | Rare | Impaired ribosome assembly; DBA |
Mutation functional classification
Loss of Function (LOF)
Most DBA-associated mutations in RPS24 are loss-of-function (nonsense, frameshift, start loss) leading to haploinsufficiency.
Gain of Function (GOF)
No gain-of-function mutations have been reported for RPS24.
Dominant Negative (DN)
Dominant-negative effects are not established; DBA inheritance is autosomal dominant with incomplete penetrance due to haploinsufficiency.
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) |
| • ribosome biogenesis (GO:0042254) |
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 S24 (RPS24) is a 133-amino-acid protein (15.4 kDa) located in the cytoplasm as part of the 40S ribosomal subunit. It contains a conserved S24E domain and is involved in mRNA binding and translation initiation. Post-translational modifications include phosphorylation, which may regulate ribosome function. RPS24 interacts with other ribosomal proteins and translation factors to ensure accurate protein synthesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPS24 Knockout HEK293 Cell Line | EDJ-KQ50593 | Human | 6229 | Details Get a Quote |
| URGCP-MRPS24 Knockout HEK293 Cell Line | EDJ-KQ52511 | Human | 100534592 | Details Get a Quote |
| RPS24 Knockout HeLa Cell Line | EDJ-KQ54362 | Human | 6229 | Details Get a Quote |
| URGCP-MRPS24 Knockout HeLa Cell Line | EDJ-KQ60976 | Human | 100534592 | Details Get a Quote |
| RPS24 Knockout A-549 Cell Line | EDJ-KQ62858 | Human | 6229 | Details Get a Quote |
| URGCP-MRPS24 Knockout A-549 Cell Line | EDJ-KQ69451 | Human | 100534592 | Details Get a Quote |
| RPS24 Knockout HCT 116 Cell Line | EDJ-KQ71323 | Human | 6229 | Details Get a Quote |
| URGCP-MRPS24 Knockout HCT 116 Cell Line | EDJ-KQ77802 | Human | 100534592 | Details Get a Quote |
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