EXOSC5
Exosome Component 5
Gene Information Card
| Symbol | EXOSC5 |
|---|---|
| Full Name | Exosome Component 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 56915 ncbi.nlm.nih.gov/gene/56915 |
| Ensembl ID | ENSG00000104884 |
| UniProt ID | Q9NQT4 |
| OMIM ID | 606492 |
| HGNC ID | 24651 |
| Aliases | Rrp46, p12B, CGI-108, EXOSC5_HUMAN |
Description
EXOSC5 encodes a core component of the RNA exosome complex, which is responsible for 3'->5' exoribonucleolytic processing and degradation of various RNA species. The protein is essential for RNA surveillance, turnover, and maturation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pontocerebellar Hypoplasia Type 1F | Biallelic loss-of-function mutations impair RNA exosome activity, leading to neurodegeneration | PMID: 32001714 |
| Multiple Myeloma | Overexpression of EXOSC5 may contribute to tumorigenesis via altered RNA metabolism | COSMIC database |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Liver | 6.1 | Low |
| Heart | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | High expression |
| HeLa | 8.7 | Moderate expression |
| K562 | 6.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.404G>A (p.Arg135His) | Missense | <0.01% | Unknown functional impact; reported in ClinVar |
| c.1A>G (p.Met1Val) | Start loss | Rare | Likely loss of function; associated with pontocerebellar hypoplasia |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations cause pontocerebellar hypoplasia type 1F.
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 |
Pathways
• RNA degradation
• Exosome pathway
Protein Summary
EXOSC5 is a 235-amino acid protein that forms part of the catalytic core of the RNA exosome. It contains an RNase PH domain and is involved in processing and degradation of RNA substrates.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
