EXOSC1
Exosome Component 1
Gene Information Card
| Symbol | EXOSC1 |
|---|---|
| Full Name | Exosome Component 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q24.1 |
| NCBI Gene ID | 51013 ncbi.nlm.nih.gov/gene/51013 |
| Ensembl ID | ENSG00000120071 |
| UniProt ID | Q9Y3B2 |
| OMIM ID | 606493 |
| HGNC ID | 24686 |
| Aliases | C1orf167, CGI-108, EXOSC1_HUMAN, hExo1, p13 |
Description
EXOSC1 encodes a core component of the RNA exosome complex, which is responsible for 3'->5' exoribonucleolytic degradation and processing of various RNA substrates. The protein is essential for RNA surveillance, turnover, and maturation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pontocerebellar Hypoplasia Type 1F | Loss-of-function mutations in EXOSC1 impair RNA exosome activity, leading to defective RNA processing and neurodegeneration | PMID: 32001713 |
| Neurodevelopmental Disorder with Motor and Language Delay | Homozygous missense variants disrupt exosome function, causing developmental delay and intellectual disability | PMID: 32001713 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.8 | Medium |
| Lung | 8.2 | Low |
| Liver | 7.1 | Low |
| Kidney | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.3 | High expression |
| HeLa | 11.2 | Medium expression |
| K562 | 9.5 | Medium expression |
| HepG2 | 8.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.92G>A (p.Arg31Gln) | Missense | Rare | Reduced exosome activity; associated with pontocerebellar hypoplasia |
| c.215C>T (p.Thr72Ile) | Missense | Rare | Impaired RNA binding; linked to neurodevelopmental disorder |
Mutation functional classification
Loss of Function (LOF)
Homozygous missense and nonsense variants reduce exoribonuclease activity, leading to RNA accumulation and cellular stress.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • 3'-5'-exoribonuclease activity | • RNA binding |
| • nuclear exosome (RNase complex) | • cytoplasmic exosome (RNase complex) |
| • RNA catabolic process | • rRNA processing |
Pathways
• RNA degradation (KEGG: hsa03018)
• rRNA processing in the nucleus and cytosol
Protein Summary
EXOSC1 is a 13 kDa core subunit of the RNA exosome complex. It contains an S1 RNA-binding domain and is essential for the structural integrity and catalytic activity of the exosome. The protein localizes to both the nucleus and cytoplasm, participating in RNA processing and degradation.
Related Services
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|---|---|---|---|---|
| No Data | ||||
