RPL11: Ribosomal Protein L11
A key component of the large ribosomal subunit implicated in Diamond-Blackfan anemia and cancer
Gene Information Card
| Symbol | RPL11 |
|---|---|
| Full Name | Ribosomal Protein L11 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.11 |
| NCBI Gene ID | 6135 ncbi.nlm.nih.gov/gene/6135 |
| Ensembl ID | ENSG00000142676 |
| UniProt ID | P62913 |
| OMIM ID | 180466 |
| HGNC ID | 10301 |
| Aliases | L11, uL11, DBA7, eL11 |
Description
RPL11 encodes a ribosomal protein that is a component of the 60S large ribosomal subunit. The protein binds to MDM2, inhibiting its ability to degrade p53, thereby linking ribosomal stress to the p53 tumor suppressor pathway. Mutations in RPL11 cause Diamond-Blackfan anemia type 7 (DBA7), a congenital bone marrow failure syndrome. RPL11 is also implicated in various cancers through dysregulation of ribosome biogenesis and p53 signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia 7 (DBA7) | Loss-of-function mutations impair ribosome assembly, leading to erythroid hypoplasia and p53-mediated apoptosis. | OMIM #612562; ClinVar |
| Colorectal cancer | RPL11 haploinsufficiency may promote tumorigenesis via p53 inactivation. | COSMIC; PMID: 23583978 |
| Breast cancer | Altered RPL11 expression correlates with poor prognosis and p53 pathway disruption. | PMID: 25605274 |
| Myelodysplastic syndromes | RPL11 mutations are recurrent in MDS with del(5q) and contribute to p53 activation. | PMID: 23160464 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 25.3 | High |
| Lymph node | 22.1 | High |
| Spleen | 20.8 | High |
| Testis | 18.5 | High |
| Brain | 12.4 | Medium |
| Liver | 10.2 | Medium |
| Heart | 8.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 28.1 | High expression |
| HeLa (cervical) | 24.6 | High expression |
| HEK293 (embryonic kidney) | 22.3 | High expression |
| MCF7 (breast cancer) | 19.8 | Medium expression |
| HepG2 (liver cancer) | 17.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.94C>T (p.Arg32Ter) | Nonsense | Rare (DBA) | Loss of function; premature termination |
| c.175_176delAG (p.Ser59fs) | Frameshift | Rare (DBA) | Loss of function; truncated protein |
| c.208G>A (p.Gly70Arg) | Missense | Rare (DBA) | Loss of function; impaired MDM2 binding |
| c.346A>G (p.Thr116Ala) | Missense | Somatic (cancer) | Unknown; possibly gain of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense mutations that reduce RPL11 protein levels or impair ribosome assembly and MDM2 binding, leading to p53 activation and Diamond-Blackfan anemia.
Gain of Function (GOF)
Not well characterized; some somatic missense variants may alter MDM2 interaction, potentially promoting cell survival.
Dominant Negative (DN)
Haploinsufficiency is the primary mechanism in DBA; no clear dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • translation (GO:0006412) |
| • cytosolic large ribosomal subunit (GO:0022625) | • ribosomal large subunit assembly (GO:0042273) |
| • mitotic spindle orientation checkpoint (GO:0031578) | • apoptotic process (GO:0006915) |
| • negative regulation of DNA damage response (GO:0043517) |
Pathways
• Ribosome (KEGG hsa03010)
• p53 signaling pathway (KEGG hsa04115)
• MDM2-p53 pathway (Reactome R-HSA-6804757)
• rRNA processing in the nucleus and cytosol (Reactome R-HSA-8868773)
Protein Summary
Ribosomal protein L11 (uL11) is a 178-amino-acid protein that localizes to the 60S ribosomal subunit. It contains an RNA-binding domain and a zinc finger-like motif. Beyond its role in translation, RPL11 functions as a sentinel for ribosomal stress: upon impaired ribosome biogenesis, free RPL11 binds MDM2, preventing p53 ubiquitination and degradation, leading to cell cycle arrest or apoptosis. This makes RPL11 a critical tumor suppressor link.
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