EXOSC7
Exosome Component 7
Gene Information Card
| Symbol | EXOSC7 |
|---|---|
| Full Name | Exosome Component 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q22.1 |
| NCBI Gene ID | 23016 ncbi.nlm.nih.gov/gene/23016 |
| Ensembl ID | ENSG00000114013 |
| UniProt ID | Q15024 |
| OMIM ID | 606488 |
| HGNC ID | HGNC:2466 |
| Aliases | RRP42, hRrp42p, p8, EAP1, EXOSC7_HUMAN |
Description
EXOSC7 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 essential for RNA surveillance and turnover.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pontocerebellar Hypoplasia Type 1F (PCH1F) | Biallelic loss-of-function mutations in EXOSC7 impair RNA exosome function, leading to defective RNA processing and neurodegeneration, particularly affecting cerebellar and spinal motor neurons. | ClinVar, OMIM |
| Neurodevelopmental Disorder with Motor and Speech Delay (NEDMSS) | Heterozygous missense mutations in EXOSC7 disrupt exosome assembly or activity, causing global developmental delay, intellectual disability, and speech impairment. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.8 | Medium |
| Lung | 9.5 | Medium |
| Liver | 8.3 | Medium |
| Kidney | 7.9 | Low |
| Heart | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.1 | High expression |
| HeLa | 10.5 | Moderate expression |
| K562 | 8.7 | Moderate expression |
| HepG2 | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.625C>T (p.Arg209Trp) | Missense | Rare | Loss of function; impairs exosome complex stability |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein expression |
| c.802_803del (p.Lys268Glufs*2) | Frameshift | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations cause pontocerebellar hypoplasia type 1F.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Heterozygous missense mutations may act via dominant-negative mechanism in neurodevelopmental disorder.
View complete mutation data：
Gene Ontology (GO)
| • 3'-5' exoribonuclease activity | • RNA binding |
| • exosome (RNase complex) | • nuclear exosome (RNase complex) |
| • cytoplasmic exosome (RNase complex) | • RNA processing |
| • rRNA processing | • mRNA catabolic process |
| • nuclear-transcribed mRNA catabolic process | • exonucleolytic |
Pathways
• RNA degradation (KEGG: hsa03018)
• rRNA processing in the nucleus and cytosol (Reactome: R-HSA-6791226)
• mRNA surveillance pathway (KEGG: hsa03015)
Protein Summary
EXOSC7 is a core component of the RNA exosome complex, essential for RNA degradation and processing. It contains an RNase PH domain and interacts with other exosome subunits to form the catalytically active ring structure. Mutations in EXOSC7 lead to neurodegenerative disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
