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GeneE
27 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RPL11
ribosomal protein L11
Chromosome 1 Β· 1p36.11
NCBI Gene: 6135Ensembl: ENSG00000142676.15HGNC: HGNC:10301UniProt: P62913
369PubMed Papers
21Diseases
6Drugs
48Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA bindingstructural constituent of ribosomeprotein binding5S rRNA bindingBlackfan-Diamond anemiaDiamond-Blackfan anemiainherited bone marrow failure syndromeShort thumb
✦AI Summary

RPL11 (ribosomal protein L11) is an essential component of the large ribosomal subunit (LSU) that plays critical roles in protein synthesis and cellular stress responses 12. As part of the 5S ribonucleoprotein particle, RPL11 is required for LSU formation and rRNA maturation 345. Beyond its structural role in ribosomes, RPL11 serves as a key mediator of nucleolar stress responses by inhibiting MDM2-mediated p53 degradation, thereby coupling ribosome biogenesis to p53 activation when ribosomal function is disrupted 567. RPL11 haploinsufficiency causes Diamond-Blackfan anemia 7, a hereditary anemia characterized by impaired erythropoiesis 89. In cancer contexts, RPL11's interaction with c-Myc and its role in nucleolar stress pathways make it relevant for tumor suppression mechanisms 1011. The protein's dysfunction affects mitochondrial metabolism and eIF5A hypusination in erythroid progenitors, linking ribosomal protein function to cellular energy metabolism 8. RPL11 expression is also altered in neurodegenerative diseases, with upregulation observed in brain capillaries of Alzheimer's disease patients 12.

Sources cited
1
RPL11 is a component of the large ribosomal subunit responsible for protein synthesis
PMID: 19191325
2
RPL11 functions in the ribosomal catalytic site for peptide bond formation
PMID: 32669547
3
RPL11 is essential for large subunit formation as part of 5S RNP
PMID: 12962325
4
RPL11 mediates p53 activation by inhibiting MDM2 during ribosomal stress
PMID: 24120868
5
RPL11 interactions with MDM2 are important for p53 activation in nucleolar stress
PMID: 39475053
6
RPL11 prevents MDM2-mediated p53 degradation during nucleolar stress
PMID: 37087976
7
RPL11 haploinsufficiency causes Diamond-Blackfan anemia and affects eIF5A hypusination
PMID: 36735910
8
RPL11 haploinsufficiency is associated with Diamond-Blackfan anemia model
PMID: 39617757
9
RPL11 accumulation occurs in senescent cancer cells through nucleolar stress
PMID: 37157887
10
RPL11 interacts with c-Myc and affects cancer progression pathways
PMID: 39994725
11
RPL11 is upregulated in brain capillaries of Alzheimer's disease patients
PMID: 35766008
Disease Associationsβ“˜21
Blackfan-Diamond anemiaOpen Targets
0.82Strong
Diamond-Blackfan anemiaOpen Targets
0.75Strong
inherited bone marrow failure syndromeOpen Targets
0.50Moderate
Abnormal thumb morphologyOpen Targets
0.46Moderate
influenzaOpen Targets
0.46Moderate
minimally differentiated acute myeloblastic leukemiaOpen Targets
0.46Moderate
Short thumbOpen Targets
0.46Moderate
Duchenne muscular dystrophyOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.40Weak
cystic fibrosisOpen Targets
0.39Weak
anemiaOpen Targets
0.28Weak
ReticulocytopeniaOpen Targets
0.26Weak
type 1 diabetes mellitusOpen Targets
0.23Weak
genetic disorderOpen Targets
0.14Weak
endocrine neoplasmOpen Targets
0.14Weak
aniridiaOpen Targets
0.10Suggestive
Becker muscular dystrophyOpen Targets
0.10Suggestive
non-Hodgkins lymphomaOpen Targets
0.09Suggestive
hepatitis B virus infectionOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
Diamond-Blackfan anemia 7UniProt
Pathogenic Variants48
NM_000975.5(RPL11):c.60_61del (p.Cys21fs)Pathogenic
Diamond-Blackfan anemia 7|Diamond-Blackfan anemia|RPL11-related disorder|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 21
NM_000975.5(RPL11):c.6+2T>CPathogenic
Diamond-Blackfan anemia|not provided|Diamond-Blackfan anemia 7
β˜…β˜…β˜†β˜†2026
NM_000975.5(RPL11):c.143_144del (p.Pro48fs)Pathogenic
not provided|Diamond-Blackfan anemia 7
β˜…β˜…β˜†β˜†2025β†’ Residue 48
NM_000975.5(RPL11):c.18_25del (p.Lys8fs)Pathogenic
Diamond-Blackfan anemia 7|Diamond-Blackfan anemia
β˜…β˜…β˜†β˜†2025β†’ Residue 8
NM_000975.5(RPL11):c.223C>T (p.Arg75Ter)Pathogenic
Diamond-Blackfan anemia 7|Diamond-Blackfan anemia|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 75
NM_000975.5(RPL11):c.62_63del (p.Cys21fs)Pathogenic
Diamond-Blackfan anemia|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 21
NM_000975.5(RPL11):c.465_466del (p.His155fs)Pathogenic
Diamond-Blackfan anemia 7|Diamond-Blackfan anemia
β˜…β˜…β˜†β˜†2023β†’ Residue 155
NM_000975.5(RPL11):c.94_97del (p.Asp31_Arg32insTer)Pathogenic
Diamond-Blackfan anemia 7|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 31
NM_000975.5(RPL11):c.397-2A>GLikely pathogenic
not provided|Diamond-Blackfan anemia
β˜…β˜…β˜†β˜†2020
NM_000975.5(RPL11):c.265-2A>CLikely pathogenic
Diamond-Blackfan anemia
β˜…β˜†β˜†β˜†2025
NM_000975.5(RPL11):c.290dup (p.Asn97fs)Pathogenic
Diamond-Blackfan anemia
β˜…β˜†β˜†β˜†2025β†’ Residue 97
NM_000975.5(RPL11):c.508-1G>CLikely pathogenic
Diamond-Blackfan anemia
β˜…β˜†β˜†β˜†2025
NM_000975.5(RPL11):c.396+1G>TLikely pathogenic
Diamond-Blackfan anemia
β˜…β˜†β˜†β˜†2025
NM_000975.5(RPL11):c.136C>T (p.Gln46Ter)Pathogenic
Diamond-Blackfan anemia
β˜…β˜†β˜†β˜†2025β†’ Residue 46
NM_000975.5(RPL11):c.165C>A (p.Tyr55Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 55
NM_000975.5(RPL11):c.501_502delinsCT (p.Gln167_Gln168delinsHisTer)Pathogenic
Diamond-Blackfan anemia
β˜…β˜†β˜†β˜†2024β†’ Residue 167
NM_000975.5(RPL11):c.158-1G>APathogenic
Diamond-Blackfan anemia 7|Diamond-Blackfan anemia
β˜…β˜†β˜†β˜†2024
NM_000975.5(RPL11):c.158-1G>CPathogenic
Diamond-Blackfan anemia
β˜…β˜†β˜†β˜†2023
NM_000975.5(RPL11):c.100dup (p.Thr34fs)Pathogenic
Diamond-Blackfan anemia
β˜…β˜†β˜†β˜†2023β†’ Residue 34
NM_000975.5(RPL11):c.311del (p.Asn104fs)Pathogenic
Diamond-Blackfan anemia
β˜…β˜†β˜†β˜†2023β†’ Residue 104
View on ClinVar β†—
Drug Targets6
ATALURENApproved
80S Ribosome modulator
Duchenne muscular dystrophy
CITATUZUMAB BOGATOXPhase I
Epithelial cell adhesion molecule binding agent
ELX-02Phase II
80S Ribosome modulator
cystic fibrosis
MT-3724Phase II
80S Ribosome inhibitor
diffuse large B-cell lymphoma
TELIMOMAB ARITOXPhase II
T-cell surface glycoprotein CD5 binding agent
hepatitis B virus infection
ZOLIMOMAB ARITOXPhase II
T-cell surface glycoprotein CD5 binding agent
arthritis
Related Genes
ABCF1Protein interaction100%ATP5F1AProtein interaction100%ATP5F1CProtein interaction100%BTF3Protein interaction100%DHX9Protein interaction100%EEF1A1Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
78%
Lung
46%
Liver
40%
Heart
32%
Brain
31%
Gene Interaction Network
Click a node to explore
RPL11ABCF1ATP5F1AATP5F1CBTF3DHX9EEF1A1
PROTEIN STRUCTURE
Preparing viewer…
PDB8A3D Β· 1.67 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.34Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.13 [0.06–0.34]
RankingsWhere RPL11 stands among ~20K protein-coding genes
  • #831of 20,598
    Most Researched369 Β· top 5%
  • #766of 1,025
    FDA-Approved Drug Targets1
  • #1,364of 5,498
    Most Pathogenic Variants48 Β· top quartile
  • #1,481of 17,882
    Most Constrained (LOEUF)0.34 Β· top 10%
Genes detectedRPL11
Sources retrieved27 papers
Response timeβ€”
πŸ“„ Sources
27β–Ό
1
Targeting BRIX1 via Engineered Exosomes Induces Nucleolar Stress to Suppress Cancer Progression.
PMID: 39475053
Adv Sci (Weinh) Β· 2024
1.00
2
CircAKT3 promotes prostate cancer proliferation and metastasis by enhancing the binding of RPS27A and RPL11.
PMID: 39994725
Mol Cancer Β· 2025
0.90
3
Spatial resolution of cellular senescence dynamics in human colorectal liver metastasis.
PMID: 37157887
Aging Cell Β· 2023
0.80
4
HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia.
PMID: 35213692
Blood Β· 2022
0.76
5
The c-MYC-WDR43 signalling axis promotes chemoresistance and tumour growth in colorectal cancer by inhibiting p53 activity.
PMID: 36525936
Drug Resist Updat Β· 2023
0.72