RPL24: Ribosomal Protein L24 – A Key Component of the Large Ribosomal Subunit
Comprehensive genomic and proteomic overview of RPL24, including gene structure, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | RPL24 |
|---|---|
| Full Name | ribosomal protein L24 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q12.3 |
| NCBI Gene ID | 6152 ncbi.nlm.nih.gov/gene/6152 |
| Ensembl ID | ENSG00000114391 |
| UniProt ID | P83731 |
| OMIM ID | 604180 |
| HGNC ID | 10336 |
| Aliases | L24, 60S ribosomal protein L24 |
Description
RPL24 (ribosomal protein L24) encodes a component of the 60S large ribosomal subunit. The protein belongs to the L24E family of ribosomal proteins and is involved in the assembly and function of the ribosome, playing a critical role in protein synthesis. RPL24 is located in the cytoplasm and is essential for cell growth and proliferation. Mutations in RPL24 have been associated with Diamond-Blackfan anemia and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia | Haploinsufficiency of RPL24 impairs ribosome biogenesis, leading to reduced erythroid progenitor proliferation and differentiation. | ClinVar; OMIM #604180 |
| Colorectal cancer | Somatic mutations and altered expression of RPL24 may contribute to dysregulated protein synthesis and tumorigenesis. | COSMIC; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Liver | 18.5 | Medium |
| Kidney | 14.1 | Medium |
| Lung | 16.3 | Medium |
| Pancreas | 11.9 | Medium |
| Spleen | 13.4 | Medium |
| Testis | 20.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 22.5 | High expression in embryonic kidney cells |
| HeLa | 19.8 | High expression in cervical cancer cells |
| K562 | 17.3 | Moderate expression in leukemia cells |
| HepG2 | 21.1 | High expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.175C>T (p.Arg59Ter) | Nonsense | Rare | Loss of function; associated with Diamond-Blackfan anemia |
| c.284G>A (p.Arg95His) | Missense | Rare | Unknown significance; reported in ClinVar |
| c.1A>G (p.Met1?) | Start loss | Rare | Likely loss of function; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, causing haploinsufficiency linked to Diamond-Blackfan anemia.
Gain of Function (GOF)
No gain-of-function mutations have been reported for RPL24.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for RPL24.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome | • translation |
| • cytoplasmic translation | • ribosome biogenesis |
| • large ribosomal subunit | • cytosol |
Pathways
• Eukaryotic translation initiation
• Ribosome (KEGG hsa03010)
• SRP-dependent cotranslational protein targeting to membrane
• Nonsense-mediated decay
Protein Summary
Ribosomal protein L24 is a 157-amino-acid protein (17.8 kDa) that forms part of the 60S large ribosomal subunit. It is highly conserved across eukaryotes and is essential for ribosome assembly and translational fidelity. The protein contains a conserved L24E domain and interacts with rRNA and other ribosomal proteins. Post-translational modifications include phosphorylation, which may regulate ribosome function.
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