EXOSC9
Exosome Component 9
Gene Information Card
| Symbol | EXOSC9 |
|---|---|
| Full Name | Exosome Component 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q27 |
| NCBI Gene ID | 5393 ncbi.nlm.nih.gov/gene/5393 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q06265 |
| OMIM ID | 606180 |
| HGNC ID | 9137 |
| Aliases | PMSCL1, RRP45, p5, EXOSC9_HUMAN |
Description
EXOSC9 encodes a component of the RNA exosome complex, a multi-protein complex responsible for 3'->5' exoribonucleolytic degradation and processing of various RNA substrates. This protein is essential for RNA surveillance, turnover, and maturation. Mutations in EXOSC9 are associated with pontocerebellar hypoplasia type 1B (PCH1B), a neurodegenerative disorder characterized by cerebellar atrophy and motor neuron degeneration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pontocerebellar hypoplasia type 1B (PCH1B) | Loss-of-function mutations impair RNA exosome activity, leading to defective RNA processing and neuronal cell death. | ClinVar, OMIM |
| Spinal muscular atrophy with pontocerebellar hypoplasia | Similar mechanism as PCH1B, with additional motor neuron involvement. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Heart | 7.1 | Low |
| Liver | 6.4 | Low |
| Kidney | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 12.8 | Medium expression |
| K562 | 10.1 | Medium expression |
| HepG2 | 8.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.395A>G (p.Asn132Ser) | Missense | Rare | Loss of function; associated with PCH1B |
| c.625C>T (p.Arg209Trp) | Missense | Rare | Loss of function; associated with PCH1B |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Mutations reduce or abolish exosome activity, leading to RNA accumulation and neurodegeneration.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • 3'-5'-exoribonuclease activity | • RNA binding |
| • exosome (RNase complex) | • nucleus |
| • cytoplasm | • RNA processing |
| • rRNA processing | • mRNA catabolic process |
Pathways
• RNA degradation
• rRNA processing in the nucleus and cytosol
Protein Summary
EXOSC9 is a 45 kDa protein that forms part of the catalytic core of the RNA exosome complex. It contains an RNase PH domain and is involved in the processing and degradation of various RNA species. The protein is ubiquitously expressed and localizes to both the nucleus and cytoplasm.
Related Services
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|---|---|---|---|---|
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