EXOSC4
Exosome Component 4: A Key Subunit of the RNA Exosome Complex Involved in RNA Processing and Degradation
Gene Information Card
| Symbol | EXOSC4 |
|---|---|
| Full Name | Exosome Component 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q24.3 |
| NCBI Gene ID | 54512 ncbi.nlm.nih.gov/gene/54512 |
| Ensembl ID | ENSG00000178896 |
| UniProt ID | Q9NPD3 |
| OMIM ID | 606492 |
| HGNC ID | 24601 |
| Aliases | RRP41, Rrp41p, hRrp41p, p12A, EXOSC4 |
Description
EXOSC4 encodes a component of the RNA exosome complex, a multi-protein complex responsible for 3'->5' exoribonucleolytic degradation and processing of various RNA substrates, including mRNA, rRNA, and non-coding RNAs. The protein is a core subunit of the exosome and is essential for RNA surveillance and turnover.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered exosome activity may affect RNA stability and gene expression, contributing to tumorigenesis. | COSMIC, NCBI |
| Neurodegenerative disorders | Dysregulation of RNA processing can lead to accumulation of toxic RNA species. | NCBI, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Brain | 10.5 | Medium |
| Liver | 9.1 | Low |
| Heart | 8.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | Cervical cancer cell line |
| HEK 293 | 13.2 | Embryonic kidney cell line |
| K562 | 11.8 | Leukemia cell line |
| A549 | 10.1 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | Potential loss of function |
| c.100C>T | Nonsense | <0.1% | Truncated protein, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations leading to truncated or unstable protein reduce exosome activity, impairing RNA degradation.
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 |
Pathways
• RNA degradation
• mRNA surveillance pathway
• rRNA processing in the nucleus and cytosol
Protein Summary
EXOSC4 is a 245-amino acid protein that forms part of the catalytic core of the RNA exosome. It contains an RNase PH domain and is involved in the 3'->5' exoribonucleolytic trimming of RNA substrates. The protein is highly conserved across eukaryotes and is essential for cellular RNA homeostasis.
Related Services
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|---|---|---|---|---|
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