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GeneE
26 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.
RPL5
ribosomal protein L5
Chromosome 1 Β· 1p22.1
NCBI Gene: 6125Ensembl: ENSG00000122406.15HGNC: HGNC:10360UniProt: A2RUM7
373PubMed Papers
21Diseases
6Drugs
88Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA bindingmRNA 3'-UTR bindingstructural constituent of ribosomeprotein bindingBlackfan-Diamond anemiaDiamond-Blackfan anemiainherited bone marrow failure syndromeAbnormal thumb morphology
✦AI Summary

RPL5 is a structural component of the large ribosomal subunit (LSU) and functions as part of the 5S ribonucleoprotein particle (5S RNP), essential for ribosome assembly and rRNA maturation 1234. Beyond its canonical role in protein synthesis catalysis, RPL5 serves as a critical nucleolar stress sensor. When ribosome biogenesis is perturbed, RPL5 accumulates in the nucleoplasm where it inhibits MDM2, thereby stabilizing and activating the p53 tumor suppressor 4. This p53-regulatory function involves RPL5 forming a complex with RPL11 that prevents MDM2-mediated p53 ubiquitination 567. Clinically, RPL5 mutations are associated with Diamond-Blackfan anemia, a congenital bone marrow failure syndrome 89. Additionally, RPL5 deletions have been identified as genomic drivers affecting clinical outcomes in multiple myeloma 10. In ribosomopathies like Shwachman-Diamond syndrome, RPL5 mutations represent convergent somatic evolution targets that offset germline ribosomal defects through p53 pathway activation, though this increases cancer risk 11. The p53-dependent nucleolar surveillance pathway mediated by RPL5 also suppresses cancer development through ferroptosis mechanisms 6.

Sources cited
1
RPL5 as essential component of 5S RNP required for LSU formation and rRNA maturation
PMID: 12962325
2
RPL5 role in ribosome formation and rRNA maturation
PMID: 19061985
3
RPL5 involvement in rRNA processing and LSU maturation
PMID: 23636399
4
RPL5 as part of 5S RNP that inhibits MDM2 and activates p53 during nucleolar stress
PMID: 24120868
5
RPL5 interaction with MDM2 in p53 activation pathway during ribosomal stress
PMID: 39475053
6
RPL5 role with RPL11 in preventing MDM2-mediated p53 degradation during nucleolar stress
PMID: 37087976
7
RPL5 and RPL11 binding to MDM2 leading to p53 accumulation in response to rRNA synthesis defects
PMID: 35881792
8
RPL5 mutations associated with inherited bone marrow failure disorders
PMID: 29146883
9
RPL5 (uL18) nuclear import defects associated with Diamond-Blackfan anemia
PMID: 35213692
10
RPL5 deletions as genomic driver affecting multiple myeloma clinical outcomes
PMID: 37945755
11
RPL5 mutations as convergent somatic evolution targets in Shwachman-Diamond syndrome
PMID: 37608017
Disease Associationsβ“˜21
Blackfan-Diamond anemiaOpen Targets
0.84Strong
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
Duchenne muscular dystrophyOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
genetic disorderOpen Targets
0.43Moderate
cystic fibrosisOpen Targets
0.39Weak
T-cell acute lymphoblastic leukemiaOpen Targets
0.37Weak
cutaneous melanomaOpen Targets
0.37Weak
cleft palateOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
Hepatobiliary NeoplasmOpen Targets
0.37Weak
Thyroid Gland Undifferentiated (Anaplastic) CarcinomaOpen Targets
0.37Weak
Erythroid hypoplasiaOpen Targets
0.34Weak
atrial heart septal defectOpen Targets
0.34Weak
Vaginal hydroceleOpen Targets
0.34Weak
Diamond-Blackfan anemia 6UniProt
Pathogenic Variants88
NM_000969.5(RPL5):c.175_176del (p.Asp59fs)Pathogenic
Diamond-Blackfan anemia 6|Diamond-Blackfan anemia
β˜…β˜…β˜†β˜†2025β†’ Residue 59
NM_000969.5(RPL5):c.169_172del (p.Asn57fs)Pathogenic
Diamond-Blackfan anemia|Diamond-Blackfan anemia 1|not provided|Diamond-Blackfan anemia 6
β˜…β˜…β˜†β˜†2025β†’ Residue 57
NM_000969.5(RPL5):c.67C>T (p.Arg23Ter)Pathogenic
Diamond-Blackfan anemia 6|not provided|Diamond-Blackfan anemia
β˜…β˜…β˜†β˜†2025β†’ Residue 23
NM_000969.5(RPL5):c.115C>T (p.Gln39Ter)Pathogenic
Diamond-Blackfan anemia 6|Diamond-Blackfan anemia
β˜…β˜…β˜†β˜†2025β†’ Residue 39
NM_000969.5(RPL5):c.3+1G>APathogenic
Diamond-Blackfan anemia 6|Diamond-Blackfan anemia
β˜…β˜…β˜†β˜†2025
NM_000969.5(RPL5):c.535C>T (p.Arg179Ter)Pathogenic
not provided|Diamond-Blackfan anemia
β˜…β˜…β˜†β˜†2024β†’ Residue 179
NM_000969.5(RPL5):c.4-1G>ALikely pathogenic
Diamond-Blackfan anemia|Diamond-Blackfan anemia 6
β˜…β˜…β˜†β˜†2024
NM_000969.5(RPL5):c.74-1G>APathogenic
Diamond-Blackfan anemia|not provided
β˜…β˜…β˜†β˜†2024
NM_000969.5(RPL5):c.527+1G>TPathogenic
Diamond-Blackfan anemia|Diamond-Blackfan anemia 6
β˜…β˜…β˜†β˜†2023
NM_000969.5(RPL5):c.155_156dup (p.Val53Ter)Pathogenic
Diamond-Blackfan anemia 6
β˜…β˜…β˜†β˜†2023β†’ Residue 53
NM_000969.5(RPL5):c.178_179del (p.Ile60fs)Pathogenic
Diamond-Blackfan anemia|Diamond-Blackfan anemia 6
β˜…β˜…β˜†β˜†2023β†’ Residue 60
NM_000969.5(RPL5):c.122_144del (p.Lys41fs)Likely pathogenic
Diamond-Blackfan anemia 6
β˜…β˜…β˜†β˜†2022β†’ Residue 41
NM_000969.5(RPL5):c.639del (p.Glu214fs)Pathogenic
Diamond-Blackfan anemia
β˜…β˜†β˜†β˜†2026β†’ Residue 214
NM_000969.5(RPL5):c.190-2A>GLikely pathogenic
Diamond-Blackfan anemia 6
β˜…β˜†β˜†β˜†2025
NM_000969.5(RPL5):c.189+1G>TLikely pathogenic
Diamond-Blackfan anemia
β˜…β˜†β˜†β˜†2025
NM_000969.5(RPL5):c.161G>C (p.Arg54Pro)Pathogenic
Diamond-Blackfan anemia
β˜…β˜†β˜†β˜†2025β†’ Residue 54
NM_000969.5(RPL5):c.70C>T (p.Arg24Ter)Pathogenic
Diamond-Blackfan anemia
β˜…β˜†β˜†β˜†2025β†’ Residue 24
NM_000969.5(RPL5):c.336del (p.Arg112fs)Pathogenic
Diamond-Blackfan anemia 6
β˜…β˜†β˜†β˜†2024β†’ Residue 112
NM_000969.5(RPL5):c.255del (p.Lys85fs)Likely pathogenic
Diamond-Blackfan anemia 6
β˜…β˜†β˜†β˜†2024β†’ Residue 85
NM_000969.5(RPL5):c.528dup (p.Thr177fs)Pathogenic
Diamond-Blackfan anemia
β˜…β˜†β˜†β˜†2024β†’ Residue 177
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%ATP5POProtein interaction100%BTF3Protein interaction100%EEF2Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
51%
Heart
32%
Lung
30%
Brain
25%
Liver
21%
Gene Interaction Network
Click a node to explore
RPL5ABCF1ATP5F1AATP5F1CATP5POBTF3EEF2
PROTEIN STRUCTURE
Preparing viewer…
PDB8A3D Β· 1.67 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.10Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.00 [0.00–0.10]
RankingsWhere RPL5 stands among ~20K protein-coding genes
  • #818of 20,598
    Most Researched373 Β· top 5%
  • #763of 1,025
    FDA-Approved Drug Targets1
  • #855of 5,498
    Most Pathogenic Variants88 Β· top quartile
  • #46of 17,882
    Most Constrained (LOEUF)0.10 Β· top 1%
Genes detectedRPL5
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Targeting BRIX1 via Engineered Exosomes Induces Nucleolar Stress to Suppress Cancer Progression.
PMID: 39475053
Adv Sci (Weinh) Β· 2024
1.00
2
Genomic and immune signatures predict clinical outcome in newly diagnosed multiple myeloma treated with immunotherapy regimens.
PMID: 37945755
Nat Cancer Β· 2023
0.90
3
A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.
PMID: 29146883
Blood Β· 2018
0.80
4
HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia.
PMID: 35213692
Blood Β· 2022
0.70
5
Genomic and immune determinants of resistance to daratumumab-based therapy in relapsed refractory multiple myeloma.
PMID: 39030183
Blood Cancer J Β· 2024
0.64