EXOSC3
Exosome Component 3
Gene Information Card
| Symbol | EXOSC3 |
|---|---|
| Full Name | Exosome Component 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 9p13.2 |
| NCBI Gene ID | 51010 ncbi.nlm.nih.gov/gene/51010 |
| Ensembl ID | ENSG00000107371 |
| UniProt ID | Q9NQT5 |
| OMIM ID | 606489 |
| HGNC ID | 17965 |
| Aliases | RRP40, hRrp40p, p10, EXOSC3 |
Description
EXOSC3 encodes a component of the RNA exosome complex, a multi-protein complex involved in RNA processing, surveillance, and degradation. The protein is a non-catalytic subunit that binds RNA and is essential for exosome stability and function. Mutations in EXOSC3 are associated with pontocerebellar hypoplasia type 1B (PCH1B), a neurodegenerative disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pontocerebellar hypoplasia type 1B | Loss-of-function mutations impair RNA exosome activity, leading to defective RNA processing and neuronal degeneration. | ClinVar, OMIM |
| Spinal muscular atrophy with pontocerebellar hypoplasia | Same mechanism as PCH1B; EXOSC3 mutations cause motor neuron degeneration. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Cerebellum | 10.5 | Medium |
| Testis | 6.1 | Low |
| Heart | 5.3 | Low |
| Liver | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.3 | High expression |
| HeLa | 9.8 | Medium expression |
| SH-SY5Y | 11.0 | Medium expression |
| K562 | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.395A>C (p.Asp132Ala) | Missense | Found in PCH1B patients | Reduces exosome complex stability and RNA binding |
| c.92G>A (p.Trp31Ter) | Nonsense | Rare | Premature truncation, loss of function |
| c.404C>T (p.Pro135Leu) | Missense | Reported in PCH1B | Impairs protein folding and complex assembly |
Mutation functional classification
Loss of Function (LOF)
Most EXOSC3 mutations are loss-of-function, reducing exosome activity and leading to RNA accumulation.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by disrupting exosome complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • 3'-5' exoribonuclease activity |
| • RNA exosome complex | • nuclear exosome (RNase complex) |
| • cytoplasmic exosome (RNase complex) | • RNA processing |
| • rRNA processing | • mRNA catabolic process |
Pathways
• RNA degradation
• rRNA processing in the nucleus and cytosol
• mRNA surveillance pathway
Protein Summary
EXOSC3 is a 275-amino acid protein that contains an S1 RNA-binding domain. It is a core component of the RNA exosome complex, which degrades various RNA species. The protein localizes to both the nucleus and cytoplasm and is essential for RNA quality control. Mutations cause pontocerebellar hypoplasia type 1B.
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