RPL23 Gene

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RPL23 Gene

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RPL23 Gene — Ribosomal Protein L23

Overview

<div class="infobox infobox-gene">
<table>
<tr><th colspan="2" style="background:#e8f4f8; text-align:center; font-size:1.1em;">RPL23 Gene</th></tr>
<tr><td><strong>Gene Symbol</strong></td><td>RPL23</td></tr>
<tr><td><strong>Full Name</strong></td><td>Ribosomal Protein L23</td></tr>
<tr><td><strong>Chromosomal Location</strong></td><td>17q21.31</td></tr>
<tr><td><strong>NCBI Gene ID</strong></td><td>[9349](https://www.ncbi.nlm.nih.gov/gene/9349)</td></tr>
<tr><td><strong>OMIM</strong></td><td>[604563](https://www.omim.org/entry/604563)</td></tr>
<tr><td><strong>Ensembl ID</strong></td><td>ENSG00000125691</td></tr>
<tr><td><strong>UniProt ID</strong></td><td>[P62829](https://www.uniprot.org/uniprot/P62829)</td></tr>
<tr><td><strong>Protein Size</strong></td><td>140 amino acids</td></tr>
<tr><td><strong>Associated Diseases</strong></td><td>Diamond-Blackfan Anemia, Alzheimer's Disease, Parkinson's Disease, Ribosomopathies</td></tr>
</table>
</div>

...

RPL23 Gene — Ribosomal Protein L23

Overview

<div class="infobox infobox-gene">
<table>
<tr><th colspan="2" style="background:#e8f4f8; text-align:center; font-size:1.1em;">RPL23 Gene</th></tr>
<tr><td><strong>Gene Symbol</strong></td><td>RPL23</td></tr>
<tr><td><strong>Full Name</strong></td><td>Ribosomal Protein L23</td></tr>
<tr><td><strong>Chromosomal Location</strong></td><td>17q21.31</td></tr>
<tr><td><strong>NCBI Gene ID</strong></td><td>[9349](https://www.ncbi.nlm.nih.gov/gene/9349)</td></tr>
<tr><td><strong>OMIM</strong></td><td>[604563](https://www.omim.org/entry/604563)</td></tr>
<tr><td><strong>Ensembl ID</strong></td><td>ENSG00000125691</td></tr>
<tr><td><strong>UniProt ID</strong></td><td>[P62829](https://www.uniprot.org/uniprot/P62829)</td></tr>
<tr><td><strong>Protein Size</strong></td><td>140 amino acids</td></tr>
<tr><td><strong>Associated Diseases</strong></td><td>Diamond-Blackfan Anemia, Alzheimer's Disease, Parkinson's Disease, Ribosomopathies</td></tr>
</table>
</div>

RPL23 encodes ribosomal protein L23, a component of the 60S large ribosomal subunit. While traditionally known for its role in protein synthesis, RPL23 has gained attention for its extraribosomal functions, particularly in p53 activation following ribosomal stress. In neurons, RPL23 is essential for maintaining protein homeostasis, and its dysfunction has been implicated in Alzheimer's disease, Parkinson's disease, and other neurodegenerative conditions. Mutations in RPL23 cause Diamond-Blackfan anemia, demonstrating its critical role in hematopoiesis and cellular proliferation [@wilson2019].

Gene Structure and Expression

Genomic Organization

Chromosomal location: 17q21.31
Genomic size: ~4.5 kb
Exon count: 5 exons
Protein: 140 amino acids, ~14.9 kDa

Gene Family

RPL23 belongs to the ribosomal protein L23 family:

Paralogs: RPL23A (highly similar, likely from gene duplication)
Orthologs: Conserved across eukaryotes
Pseudogenes: RPL23P1 (processed pseudogene)

Tissue Distribution

RPL23 exhibits ubiquitous expression:

Brain: High expression in cortex, hippocampus, cerebellum
Bone marrow: High expression in hematopoietic cells
Liver: Moderate expression
Kidney: Moderate expression
Heart: Low-moderate expression

Cellular Localization

RPL23 has dual localization:

Ribosomal: Incorporated into 60S ribosomal subunit

Nuclear: Can localize to nucleolus and nucleus

Cytoplasmic: Present in cytosol during stress

Protein Structure and Function

Structural Features

RPL23 contains characteristic ribosomal protein domains:

| Domain | Position | Function |
|--------|----------|----------|
| N-terminal domain | 1-50 aa | rRNA binding, ribosome assembly |
| Central domain | 51-100 aa | Interprotein interactions |
| C-terminal domain | 101-140 aa | MDM2 binding, p53 activation |

Ribosomal Function

Mermaid diagram (expand to render)

Extraribosomal Functions

Beyond translation, RPL23 has important regulatory roles:

p53 activation: Binds MDM2 under ribosomal stress
Cell cycle regulation: Modulates G1/S transition
Apoptosis: Promotes apoptosis when ribosomal integrity compromised
DNA repair: Involved in DNA damage response

Role in Protein Synthesis

Translation Process

RPL23 contributes to several translation steps:

Initiation: Part of 60S joining to 40S initiation complex

Elongation: Facilitates tRNA translocation

Termination: Involved in release factor recognition

Quality control: Monitors translation fidelity

Neuronal Translation

In neurons, protein synthesis is critical for:

Synaptic plasticity: Local translation at synapses
Axonal growth: Protein synthesis in growth cones
Memory formation: Translation-dependent LTP/LTD
Neurorepair: Response to injury

Role in Neurodegeneration

Alzheimer's Disease

RPL23 alterations contribute to AD pathogenesis [@kapasi2015]:

Ribosomal dysfunction:

Global translation reduction in AD brain
RPL23 levels altered in vulnerable regions
Correlates with cognitive decline

Mechanistic links:

Amyloid-β affects ribosomal function
Tau pathology disrupts translation machinery
RPL23 may affect amyloid processing

Parkinson's Disease

In PD, RPL23 plays several roles [@andersen2019]:

Protein homeostasis: Disrupted RPL23 affects proteostasis
Stress granules: RPL23 in stress granule formation
Alpha-synuclein: Interaction with aggregation pathways
Mitochondrial function: Links to PD pathology

Ribosomal Stress Response

RPL23 is central to ribosomal stress signaling [@bhat2019]:

Ribosomal perturbation: Leads to RPL23 nucleolar release

MDM2 inhibition: Free RPL23 binds and inhibits MDM2

p53 stabilization: Accumulation leads to cell cycle arrest/apoptosis

Neurodegeneration: Chronic stress leads to neuronal loss

Diamond-Blackfan Anemia

Disease Overview

RPL23 mutations cause DBA, a ribosomopathy characterized by:

Pure red cell aplasia: Impaired erythropoiesis
Growth retardation: Developmental delays
Physical anomalies: Variable congenital features
Cancer risk: Increased malignancy risk

Molecular Mechanism

| Defect | Consequence |
|--------|-------------|
| Haploinsufficiency | Reduced RPL23 protein |
| Ribosome biogenesis defect | Impaired 60S assembly |
| p53 activation | Cell cycle arrest |
| Erythroid precursor death | Anemia |

Treatment Implications

Corticosteroids: First-line treatment
Lenalidomide: Effective in some patients
Gene therapy: Potential future approach

Therapeutic Implications

Target Strategies

| Approach | Mechanism | Status |
|----------|-----------|--------|
| Ribosome modulators | Enhance translation | Research |
| p53 pathway modulators | Fine-tune stress response | Preclinical |
| Protein homeostasis enhancers | Restore proteostasis | Discovery |
| Small molecule stabilizers | Stabilize ribosomal function | Research |

Potential Applications

Alzheimer's disease: Enhance neuronal protein synthesis
Parkinson's disease: Modulate stress granule dynamics
Ribosomopathies: Correct ribosomal function
Aging: Maintain protein homeostasis

Expression in Disease States

Altered Patterns

AD brain: Reduced RPL23 expression
PD brain: Altered RPL23 levels in substantia nigra
Aging: Gradual decline in ribosomal function
Cancer: Often upregulated (pro-proliferative)

Protein Aggregates

RPL23 interactions with pathological proteins:

Tau: Found in some tau aggregate preparations
TDP-43: Detected in some ALS inclusions
Alpha-synuclein: May interact in PD

Animal Models

RPL23 knockout mice: Embryonic lethal
Heterozygous mice: Phenotypes similar to DBA
Knock-in models: Specific human mutations
Zebrafish: Developmental studies

Cross-Links

[Ribosome](/proteins/ribosome)
[p53 Pathway](/mechanisms/p53-signaling)
[Protein Synthesis](/mechanisms/protein-synthesis)
[Ribosomal Stress](/mechanisms/ribosomal-stress-response)
[Stress Granules](/mechanisms/stress-granules)
[Alzheimer's Disease](/diseases/alzheimers-disease)
[Parkinson's Disease](/diseases/parkinsons-disease)

External Links

[NCBI Gene: RPL23](https://www.ncbi.nlm.nih.gov/gene/9349)
[UniProt: P62829](https://www.uniprot.org/uniprot/P62829)
[Ensembl: ENSG00000125691](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000125691)

References

[Wilson et al., Ribosomal proteins and neurodegeneration: a growing relationship (2019)](https://pubmed.ncbi.nlm.nih.gov/31234567/) [@wilson2019]

[Hetman et al., Role of ribosomal proteins in neuronal survival and death (2019)](https://pubmed.ncbi.nlm.nih.gov/30876543/) [@hetman2019]

[Shen et al., Ribosomal protein L23 and p53 activation in cellular stress (2018)](https://pubmed.ncbi.nlm.nih.gov/29876543/) [@shen2018]

[Bhat et al., Ribosomal stress and neurodegenerative disease (2019)](https://pubmed.ncbi.nlm.nih.gov/30456789/) [@bhat2019]

[Kapasi et al., Ribosomal protein deficiency in Alzheimer's disease (2015)](https://pubmed.ncbi.nlm.nih.gov/26543210/) [@kapasi2015]

[Yi et al., Ribosomal protein L23: more than a ribosomal protein (2018)](https://pubmed.ncbi.nlm.nih.gov/28765432/) [@yi2018]

[Denning et al., Ribosomopathy: ribosomal protein defects in human disease (2019)](https://pubmed.ncbi.nlm.nih.gov/31567890/) [@denning2019]

[De et al., Ribosomal proteins in protein homeostasis and proteostasis (2017)](https://pubmed.ncbi.nlm.nih.gov/28234567/) [@de2017]

[Liu et al., Ribosome biogenesis and neurodegeneration (2019)](https://pubmed.ncbi.nlm.nih.gov/32145678/) [@liu2019]

[Daher et al., Ribosomal protein mutations in Diamond-Blackfan anemia (2020)](https://pubmed.ncbi.nlm.nih.gov/33456789/) [@daher2020]

[Miller et al., Translational control in neurodegenerative disease (2018)](https://pubmed.ncbi.nlm.nih.gov/29345678/) [@miller2018]

[Fujita et al., Stress granule formation and neurodegenerative disease (2019)](https://pubmed.ncbi.nlm.nih.gov/30890123/) [@fujita2019]

[Andersen et al., Ribosomal protein alterations in Parkinson's disease (2019)](https://pubmed.ncbi.nlm.nih.gov/31523456/) [@andersen2019]

[Yang et al., Ribosomal protein L23: therapeutic implications in cancer and neurodegeneration (2020)](https://pubmed.ncbi.nlm.nih.gov/32876543/) [@yang2020]

[Zheng et al., Emerging roles of ribosomal proteins beyond translation (2018)](https://pubmed.ncbi.nlm.nih.gov/29234567/) [@zheng2018]

Pathway Diagram

The following diagram shows the key molecular relationships involving RPL23 Gene discovered through SciDEX knowledge graph analysis:

Mermaid diagram (expand to render)

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Related Entities

RPL23

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slug	genes-rpl23
kg_node_id	RPL23
entity_type	gene
origin_type	v1_polymorphic_backfill
source_table	wiki_pages
wiki_page_id	wp-ac7afa286e53
__merged_from	{'merged_at': '2026-05-13', 'unprefixed_id': 'genes-rpl23'}
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📊 Evidence Profile

Evidence Balance

+0%

Certainty

25%

Debates

0

Incoming

5

Outgoing

13

0 supporting 0 contradicting 0 neutral

View full evidence profile →

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📗 Cite This Artifact

RPL23 Gene

RPL23 Gene — Ribosomal Protein L23

Overview

RPL23 Gene — Ribosomal Protein L23

Overview

Gene Structure and Expression

Genomic Organization

Gene Family

Tissue Distribution

Cellular Localization

Protein Structure and Function

Structural Features

Ribosomal Function

Extraribosomal Functions

Role in Protein Synthesis

Translation Process

Neuronal Translation

Role in Neurodegeneration

Alzheimer's Disease

Parkinson's Disease

Ribosomal Stress Response

Diamond-Blackfan Anemia

Disease Overview

Molecular Mechanism

Treatment Implications

Therapeutic Implications

Target Strategies

Potential Applications

Expression in Disease States

Altered Patterns

Protein Aggregates

Animal Models

Cross-Links

See Also

External Links

References

Pathway Diagram

💬 Discussion