RPL23: Ribosomal Protein L23 – A Core Component of the Large Ribosomal Subunit
Essential for protein synthesis, implicated in Diamond-Blackfan anemia and cancer
Gene Information Card
| Symbol | RPL23 |
|---|---|
| Full Name | Ribosomal Protein L23 |
| Gene Type | Protein-coding |
| Chromosomal Location | 17q12 |
| NCBI Gene ID | 9349 ncbi.nlm.nih.gov/gene/9349 |
| Ensembl ID | ENSG00000125691 |
| UniProt ID | P62829 |
| OMIM ID | 603662 |
| HGNC ID | 10316 |
| Aliases | L23, 60S ribosomal protein L23, rpL17 |
Description
RPL23 encodes ribosomal protein L23, a component of the 60S large ribosomal subunit. This protein is essential for ribosome assembly and translation initiation. RPL23 is also involved in nucleolar stress responses and has been linked to Diamond-Blackfan anemia (DBA) and various cancers through haploinsufficiency and somatic mutations.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia | Haploinsufficiency of RPL23 impairs ribosome biogenesis, leading to erythroid progenitor apoptosis | ClinVar, OMIM |
| Colorectal cancer | Somatic mutations and copy number alterations in RPL23 disrupt translation fidelity and promote tumorigenesis | COSMIC, NCBI |
| Hepatocellular carcinoma | RPL23 overexpression correlates with poor prognosis; may enhance ribosome assembly and cell proliferation | NCBI, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 18.5 | High |
| Kidney | 14.2 | Medium |
| Heart | 11.8 | Medium |
| Brain | 9.3 | Low |
| Lung | 12.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.4 | Cervical cancer cell line |
| HEK293 | 19.7 | Embryonic kidney cell line |
| HepG2 | 21.0 | Hepatocellular carcinoma cell line |
| K562 | 15.3 | Chronic myeloid leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.95G>A (p.Arg32Gln) | Missense | <0.1% | Reduced ribosome assembly; associated with DBA |
| c.148C>T (p.Arg50*) | Nonsense | <0.1% | Premature stop; loss of function; DBA |
| c.202_203insA (p.Thr68Asnfs*2) | Frameshift | <0.1% | Loss of function; DBA |
| c.1A>G (p.Met1?) | Start loss | <0.1% | No protein production; DBA |
Mutation functional classification
Loss of Function (LOF)
Haploinsufficient mutations (nonsense, frameshift, start loss) reduce RPL23 protein levels, impairing ribosome biogenesis and causing Diamond-Blackfan anemia.
Gain of Function (GOF)
Not reported; RPL23 is not known to acquire oncogenic gain-of-function mutations.
Dominant Negative (DN)
No dominant-negative mutations have been described for RPL23.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • translation (GO:0006412) |
| • cytosolic large ribosomal subunit (GO:0022625) | • ribosome biogenesis (GO:0042254) |
| • cytoplasmic translation (GO:0002181) |
Pathways
• Ribosome (KEGG hsa03010)
• Eukaryotic translation initiation (Reactome R-HSA-72689)
• Nonsense-Mediated Decay (Reactome R-HSA-927802)
Protein Summary
Ribosomal protein L23 (RPL23) is a 140-amino-acid protein (15.7 kDa) located in the cytoplasm and nucleolus. It forms part of the 60S ribosomal subunit, interacting with rRNA and other ribosomal proteins to stabilize the ribosome. RPL23 also binds to the MDM2 protein, modulating p53 activity under nucleolar stress. Mutations causing haploinsufficiency lead to Diamond-Blackfan anemia, while altered expression is observed in several cancers.
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