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GeneE
10 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.
EXOSC1
exosome component 1
Chromosome 10 Β· 10q24.1
NCBI Gene: 51013Ensembl: ENSG00000171311.13HGNC: HGNC:17286UniProt: B1AMU3
90PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA exonuclease activityRNA processingRNA catabolic processnucleusneurodegenerative diseasepontocerebellar hypoplasia, type 1Fovarian neoplasmcancer
✦AI Summary

EXOSC1 is a non-catalytic structural component of the nine-subunit RNA exosome complex, a ribonuclease responsible for RNA processing and degradation. As a peripheral component, EXOSC1 stabilizes the catalytic hexameric ring through interactions with EXOSC6 and EXOSC8 1. In the nucleus, the exosome complex processes stable RNAs (rRNA, snRNA, snoRNA), eliminates defective transcripts and non-coding RNAs, and may participate in immunoglobulin class switching 2. Cytoplasmic functions include mRNA turnover, degradation of AU-rich element-containing transcripts, and RNA surveillance pathways 2. Recent evidence demonstrates EXOSC1 also cleaves single-stranded DNA, promoting mutations in renal carcinoma cells and sensitizing them to PARP inhibitors 3. Disease relevance is significant: bi-allelic EXOSC1 variants cause pontocerebellar hypoplasia type 1F, characterized by developmental delay, microcephaly, hypotonia, and cerebellar hypoplasia 1, 4. Pathogenic variants reduce EXOSC1 protein levels and disrupt EXO9 complex stability 1. Additionally, EXOSC1 dysfunction impairs ribosome biogenesis and elevates p53 levels, linking exosome disorders to ribosomopathies 5. In cancer contexts, EXOSC1 appears to be a therapeutic target, with elevated expression correlating with poor prognosis in renal carcinoma and its inhibition identified as a potential strategy to overcome tumor immune evasion 6, 7.

Sources cited
1
EXOSC1 missense variant causes pontocerebellar hypoplasia type 1F; reduces EXOSC1 protein levels and EXO9 complex stability
PMID: 33463720
2
Second EXOSC1 mutation case associated with pontocerebellar hypoplasia and dilated cardiomyopathy; confirms impaired exosome function
PMID: 37024942
3
RNA exosome complex processes stable RNAs and controls cellular differentiation through post-transcriptional mechanisms
PMID: 33119769
4
EXOSC1 cleaves single-stranded DNA, promotes mutations in renal carcinoma, and sensitizes cells to PARP inhibitors
PMID: 34159897
5
EXOSC1 undergoes CARM1-mediated arginine methylation; RNA exosome modulation could overcome tumor immune evasion
PMID: 40203080
6
Exosome mutations impair ribosome biogenesis and elevate p53 levels, classifying these disorders as ribosomopathies
PMID: 32527837
7
EXOSC1 identified as target protein of anticancer peptide LVTX-8 in nasopharyngeal carcinoma
PMID: 38700954
Disease Associationsβ“˜21
neurodegenerative diseaseOpen Targets
0.52Moderate
pontocerebellar hypoplasia, type 1FOpen Targets
0.50Moderate
ovarian neoplasmOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.01Suggestive
Mantle cell lymphomaOpen Targets
0.01Suggestive
type 2 diabetes mellitusOpen Targets
0.01Suggestive
nasopharyngeal carcinomaOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
viral diseaseOpen Targets
0.01Suggestive
triple-negative breast cancerOpen Targets
0.01Suggestive
gastric cancerOpen Targets
0.01Suggestive
Parkinson diseaseOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
Lyme diseaseOpen Targets
0.00Suggestive
fatty liver diseaseOpen Targets
0.00Suggestive
genetic disorderOpen Targets
0.00Suggestive
hepatitis C virus infectionOpen Targets
0.00Suggestive
pontocerebellar hypoplasia, type 1DOpen Targets
0.00Suggestive
Townes-Brocks syndromeOpen Targets
0.00Suggestive
Pontocerebellar hypoplasia 1FUniProt
Pathogenic Variants1
NM_016046.5(EXOSC1):c.104C>T (p.Ser35Leu)Pathogenic
Pontocerebellar hypoplasia, type 1F
β˜†β˜†β˜†β˜†2021β†’ Residue 35
View on ClinVar β†—
Related Genes
CNOT3Protein interaction100%EXOSC10Protein interaction100%RBM7Protein interaction100%HBS1LProtein interaction100%EXOSC8Protein interaction100%EXOSC7Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Lung
93%
Liver
90%
Bone Marrow
85%
Heart
70%
Brain
66%
Gene Interaction Network
Click a node to explore
EXOSC1CNOT3EXOSC10RBM7HBS1LEXOSC8EXOSC7
PROTEIN STRUCTURE
Preparing viewer…
PDB9G8M Β· 3.30 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.20LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.86 [0.63–1.20]
RankingsWhere EXOSC1 stands among ~20K protein-coding genes
  • #5,304of 20,598
    Most Researched90
  • #4,920of 5,498
    Most Pathogenic Variants1
  • #12,596of 17,882
    Most Constrained (LOEUF)1.20
Genes detectedEXOSC1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia.
PMID: 33463720
Clin Genet Β· 2021
1.00
2
The mRNA export pathway licenses viral mimicry response and antitumor immunity by actively exporting nuclear retroelement transcripts.
PMID: 40203080
Sci Transl Med Β· 2025
0.90
3
Pontocerebellar hypoplasia associated with p.Arg183Trp homozygous variant in EXOSC1 gene: A case report.
PMID: 37024942
Am J Med Genet A Β· 2023
0.80
4
Exosome component 1 cleaves single-stranded DNA and sensitizes human kidney renal clear cell carcinoma cells to poly(ADP-ribose) polymerase inhibitor.
PMID: 34159897
Elife Β· 2021
0.70
5
Comparative Proteomics Identified EXOSC1 as a Target Protein of Anticancer Peptide LVTX-8 in Nasopharyngeal Carcinoma Cells.
PMID: 38700954
J Proteome Res Β· 2024
0.60