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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ESF1
ESF1 nucleolar pre-rRNA processing protein
Chromosome 20 · 20p12.1
NCBI Gene: 51575Ensembl: ENSG00000089048.16HGNC: HGNC:15898UniProt: Q9H501
89PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingGO:0005615rRNA processingnucleusmitochondrial complex I deficiencymitochondrial complex I deficiency, nuclear type 16neurodegenerative diseasegenetic disorder
✦AI Summary

ESF1 (Eighteen S rRNA factor 1) is a nucleolar protein with dual roles in ribosome biogenesis and cancer regulation. In ribosome biogenesis, ESF1 associates with pre-40S ribosomal particles and facilitates early-stage pre-rRNA processing by helping pre-rRNA acquire conformations favorable for cleavage, rather than directly catalyzing cleavage events 1. Beyond its nucleolar function, ESF1 plays a critical oncogenic role by positively regulating MDM2 protein stability through inhibition of ubiquitination, thereby suppressing p53-mediated apoptosis and promoting cell proliferation and tumorigenesis 2. Elevated ESF1 expression correlates with poor survival in multiple cancers, including pancreatic and gastric cancers 23. ESF1 has emerged as a candidate biomarker for hepatocellular carcinoma recurrence prediction 4 and as a disease-associated gene in idiopathic pulmonary arterial hypertension 5. Additionally, ESF1 was identified as a candidate gene near an epileptogenesis susceptibility locus in seizure models 6. The protein's essential role in both fundamental cellular processes (ribosome biogenesis) and cancer progression positions it as an important target for understanding tumorigenesis mechanisms and potential therapeutic intervention in multiple malignancies.

Sources cited
1
ESF1 associates with pre-40S ribosomal particles and facilitates early pre-rRNA processing by promoting proper RNA conformation rather than direct cleavage
PMID: 38391939
2
ESF1 positively regulates MDM2 stability by inhibiting ubiquitination, suppresses p53, and promotes tumorigenesis; elevated ESF1 correlates with poor survival in pancreatic cancer
PMID: 38971273
3
ESF1 plays an important role in molecular mechanisms of chemotherapy drugs in gastric cancer with H. pylori history
PMID: 38273052
4
ESF1 is among seven differentially expressed proteins with AUROC > 0.7 for predicting hepatocellular carcinoma recurrence
PMID: 35816347
5
ESF1 is identified as a salient gene in network analysis of idiopathic pulmonary arterial hypertension
PMID: 37410515
6
ESF1 is a candidate gene near an epileptogenesis susceptibility locus identified through systems genetics in a seizure model
PMID: 28620084
Disease Associationsⓘ20
mitochondrial complex I deficiencyOpen Targets
0.53Moderate
mitochondrial complex I deficiency, nuclear type 16Open Targets
0.53Moderate
neurodegenerative diseaseOpen Targets
0.42Moderate
genetic disorderOpen Targets
0.34Weak
Leigh syndromeOpen Targets
0.31Weak
Abruptio PlacentaeOpen Targets
0.29Weak
mitochondrial complex I deficiency, nuclear type 1Open Targets
0.16Weak
JaundiceOpen Targets
0.11Weak
benign prostatic hyperplasiaOpen Targets
0.10Weak
heart diseaseOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.03Suggestive
stricture or kinking of ureterOpen Targets
0.03Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
response to antihypertensive drugOpen Targets
0.02Suggestive
obesityOpen Targets
0.02Suggestive
injuryOpen Targets
0.01Suggestive
gastric cancerOpen Targets
0.00Suggestive
posterior cortical atrophyOpen Targets
0.00Suggestive
type 2 diabetes mellitusOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PIN4Shared pathway100%RRP1Shared pathway100%UTP14CShared pathway100%DDX27Shared pathway100%WDR55Shared pathway100%YBEYShared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
99%
Ovary
75%
Brain
73%
Liver
63%
Lung
44%
Gene Interaction Network
Click a node to explore
ESF1PIN4RRP1UTP14CDDX27WDR55YBEY
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H501
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.85LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.67 [0.53–0.85]
RankingsWhere ESF1 stands among ~20K protein-coding genes
  • #5,357of 20,598
    Most Researched89
  • #7,436of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedESF1
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
ESF1 positively regulates MDM2 and promotes tumorigenesis.
PMID: 38971273
Int J Biol Macromol · 2024
0.90
3
Idiopathic Pulmonary Arterial Hypertension: Network-Based Integration of Multi-Omics Data Reveals New Molecular Signatures and Candidate Drugs.
PMID: 37410515
OMICS · 2023
0.80
4
Machine learning algorithms based on proteomic data mining accurately predicting the recurrence of hepatitis B-related hepatocellular carcinoma.
PMID: 35816347
J Gastroenterol Hepatol · 2022
0.70
5
Modification of a synthetic antimicrobial peptide (ESF1) for improved inhibitory activity.
PMID: 9675125
Biochem Biophys Res Commun · 1998
0.60