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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RPS27
ribosomal protein S27
Chromosome 1 · 1q21.3
NCBI Gene: 6232Ensembl: ENSG00000177954.15HGNC: HGNC:10416UniProt: P42677
237PubMed Papers
21Diseases
6Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleuscytosolic small ribosomal subunitcytosolic ribosomeprotein bindingminimally differentiated acute myeloblastic leukemiainfluenzaDuchenne muscular dystrophyBlackfan-Diamond anemia
✦AI Summary

RPS27 is a structural component of the small ribosomal subunit (40S) essential for protein synthesis 1. It plays a critical role in ribosome biogenesis, particularly in pre-rRNA processing and maturation of 18S rRNA within the small subunit processome in the nucleolus 2. Beyond its canonical ribosomal function, RPS27 functions as an RNA-binding protein that selectively regulates inflammatory and immune response gene expression and alternative splicing in thyroid cancer cells 3. RPS27 expression exhibits bimodal patterns across multiple cancer types, with differential prognostic implications; paradoxically, RPS27-high status promotes proliferation and invasion in melanoma, while RPS27-low confers therapy resistance 4. RPS27 is downregulated in Kaposi's sarcoma where reduced expression promotes endothelial cell proliferation, migration, and angiogenesis 5. Genetically, loss-of-function mutations in RPS27 cause Diamond-Blackfan anemia, a congenital bone marrow failure syndrome characterized by impaired erythrocyte production 2. Post-translational neddylation by MDM2 stabilizes RPS27 protein, promoting cancer cell survival 6. RPS27 regulation is modulated by chloride signaling downstream of CFTR, involving IL-1β and JNK pathways 7, and recent evidence suggests RPS27 may serve as a biomarker for idiopathic Parkinson's disease 8.

Sources cited
1
RPS27 is a component of the small ribosomal subunit responsible for protein synthesis
PMID: 23636399
2
RPS27 is required for proper rRNA processing and 18S rRNA maturation; loss-of-function mutations cause Diamond-Blackfan anemia
PMID: 25424902
3
RPS27 selectively regulates expression and alternative splicing of inflammatory/immune response genes in thyroid cancer
PMID: 35546566
4
RPS27 expression is bimodal in melanoma; RPS27-high promotes proliferation and invasion while RPS27-low confers therapy resistance and worse prognosis
PMID: 31663663
5
RPS27 is downregulated in Kaposi's sarcoma; reduced expression promotes endothelial cell proliferation, migration, invasion and angiogenesis
PMID: 40016701
6
RPS27 undergoes neddylation by MDM2, which stabilizes the protein and promotes cancer cell survival
PMID: 32779270
7
CFTR modulates RPS27 expression using chloride as a signaling effector, involving IL-1β and JNK signaling pathways
PMID: 28941802
8
RPS27 is identified as a potential biomarker for idiopathic Parkinson's disease
PMID: 39467967
9
RPS27 upregulation serves as an early-response marker for BMP4 sensitivity in glioblastoma cultures
PMID: 35639831
Disease Associationsⓘ21
influenzaOpen Targets
0.46Moderate
minimally differentiated acute myeloblastic leukemiaOpen Targets
0.46Moderate
Duchenne muscular dystrophyOpen Targets
0.46Moderate
Blackfan-Diamond anemiaOpen Targets
0.45Moderate
cystic fibrosisOpen Targets
0.39Weak
COVID-19Open Targets
0.37Weak
severe acute respiratory syndromeOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.26Weak
neoplasmOpen Targets
0.12Weak
hypertensionOpen Targets
0.11Weak
aniridiaOpen Targets
0.10Suggestive
Becker muscular dystrophyOpen Targets
0.10Suggestive
non-Hodgkins lymphomaOpen Targets
0.09Suggestive
gliomaOpen Targets
0.09Suggestive
genetic disorderOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
prostate carcinomaOpen Targets
0.09Suggestive
glioblastoma multiformeOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
hepatitis B virus infectionOpen Targets
0.08Suggestive
Diamond-Blackfan anemia 17UniProt
Pathogenic Variants1
NM_001030.6(RPS27):c.90del (p.Tyr31fs)Pathogenic
Diamond-Blackfan anemia 17
☆☆☆☆2017→ Residue 31
View on ClinVar ↗
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
RPS25Shared pathway100%GSPT1Protein interaction100%HBA1Protein interaction100%HBA2Protein interaction100%RPL36ALProtein interaction100%RPL41Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
50%
Lung
40%
Brain
35%
Liver
30%
Heart
17%
Gene Interaction Network
Click a node to explore
RPS27RPS25GSPT1HBA1HBA2RPL36ALRPL41
PROTEIN STRUCTURE
Preparing viewer…
PDB8GLP · 1.67 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.52Moderately Constrained
pLIⓘ
0.93Intolerant
Observed/Expected LoF0.11 [0.04–0.52]
RankingsWhere RPS27 stands among ~20K protein-coding genes
  • #1,666of 20,598
    Most Researched237 · top 10%
  • #838of 1,025
    FDA-Approved Drug Targets1
  • #4,703of 5,498
    Most Pathogenic Variants1
  • #3,205of 17,882
    Most Constrained (LOEUF)0.52 · top quartile
Genes detectedRPS27
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Exploration of RNA-binding proteins identified RPS27 as a potential regulator associated with Kaposi's sarcoma development.
PMID: 40016701
BMC Cancer · 2025
1.00
2
RPS27 selectively regulates the expression and alternative splicing of inflammatory and immune response genes in thyroid cancer cells.
PMID: 35546566
Adv Clin Exp Med · 2022
0.90
3
Functional analysis of RPS27 mutations and expression in melanoma.
PMID: 31663663
Pigment Cell Melanoma Res · 2020
0.80
4
Somatic driver mutations in melanoma.
PMID: 28543693
Cancer · 2017
0.76
5
Comparative single-cell RNA-sequencing profiling of BMP4-treated primary glioma cultures reveals therapeutic markers.
PMID: 35639831
Neuro Oncol · 2022
0.70