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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RPF1
ribosome production factor 1 homolog
Chromosome 1 · 1p22.3
NCBI Gene: 80135Ensembl: ENSG00000117133.12HGNC: HGNC:30350UniProt: Q9H9Y2
48PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingprotein bindingnucleolusmaturation of LSU-rRNAneurodegenerative diseaseasthmainfectiontype 2 diabetes mellitus
✦AI Summary

RPF1 (ribosome production factor 1 homolog) is a nucleolar protein essential for early-stage ribosome biogenesis, particularly 60S ribosomal subunit maturation. RPF1 functions in pre-rRNA processing by facilitating the conformational changes of precursor rRNA that promote cleavage, rather than performing direct catalytic cleavage itself 1. The protein operates as part of the WDR74 module, a pre-ribosomal subcomplex that coordinates early pre-rRNA cleavage within internal transcribed spacer sequences and late processing of 5.8S rRNA maturation 2. RPF1 physically interacts with binding partners including MAK16, a protein containing a redox-sensitive [4Fe-4S] iron-sulfur cluster whose stability is critical for maintaining the RPF1-MAK16 complex and 25S rRNA production 3. Beyond its canonical ribosomal function, RPF1 has been identified as a hub gene involved in ribosome biogenesis pathways relevant to type 2 diabetes pathogenesis 4 and emerges as a prognostic biomarker in ischemic stroke where ribosomal biogenesis genes correlate with disease severity and immune responses 5. While RPF1's housekeeping role in ribosome assembly is well-established, its potential involvement in disease states suggests broader cellular significance beyond protein synthesis.

Sources cited
1
RPF1 participates in early stages of 60S ribosomal biogenesis by facilitating pre-rRNA conformational changes that promote cleavage without direct catalytic involvement
PMID: 38391939
2
RPF1 is a component of the WDR74 module that coordinates early pre-rRNA cleavage and late 5.8S rRNA processing in 60S ribosome biogenesis
PMID: 39706051
3
RPF1 interacts with MAK16, whose [4Fe-4S] iron-sulfur cluster stability is critical for maintaining the RPF1-MAK16 complex and 25S rRNA production
PMID: 41231949
4
RPF1 is a hub gene in ribosome biogenesis pathways associated with type 2 diabetes pathogenesis
PMID: 35601016
5
RPF1 is identified as a ribosome biogenesis gene involved in ischemic stroke pathogenesis with prognostic significance
PMID: 39290696
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.41Moderate
asthmaOpen Targets
0.24Weak
infectionOpen Targets
0.01Suggestive
type 2 diabetes mellitusOpen Targets
0.00Suggestive
skin basal cell carcinomaOpen Targets
0.00Suggestive
squamous cell carcinomaOpen Targets
0.00Suggestive
temporal arteritisOpen Targets
0.00Suggestive
infertilityOpen Targets
0.00Suggestive
Ischemic strokeOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
diffuse large B-cell lymphomaOpen Targets
0.00Suggestive
Insulin resistanceOpen Targets
0.00Suggestive
Wilms tumorOpen Targets
0.00Suggestive
esophageal cancerOpen Targets
0.00Suggestive
familial pancreatic carcinomaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
ovarian cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BYSLProtein interaction100%RPL38Protein interaction100%RPL32Protein interaction100%RPL31Protein interaction100%RPL14Protein interaction100%RPL30Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
83%
Brain
53%
Liver
48%
Lung
46%
Ovary
38%
Gene Interaction Network
Click a node to explore
RPF1BYSLRPL38RPL32RPL31RPL14RPL30
PROTEIN STRUCTURE
Preparing viewer…
PDB8FKV · 2.47 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.46LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.92 [0.60–1.46]
RankingsWhere RPF1 stands among ~20K protein-coding genes
  • #9,124of 20,598
    Most Researched48
  • #14,898of 17,882
    Most Constrained (LOEUF)1.46
Genes detectedRPF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human RPF1 and ESF1 in Pre-rRNA Processing and the Assembly of Pre-Ribosomal Particles: A Functional Study.
PMID: 38391939
Cells · 2024
1.00
2
The function of Mak16 in ribosome biogenesis depends on its [4Fe-4S] cluster.
PMID: 41231949
Proc Natl Acad Sci U S A · 2025
0.90
3
Molecular mechanism of Tongmai Yangxin Pill intervention in elderly patients with coronary heart disease.
PMID: 36459010
Eur Rev Med Pharmacol Sci · 2022
0.80
4
Identification of ribosome biogenesis genes and subgroups in ischaemic stroke.
PMID: 39290696
Front Immunol · 2024
0.70
5
Deciphering the similarities and disparities of molecular mechanisms behind respiratory epithelium response to HCoV-229E and SARS-CoV-2 and drug repurposing, a systems biology approach.
PMID: 38652363
Daru · 2024
0.60