EXOSC3 Gene Summary [Human]
This gene encodes a non-catalytic component of the human exosome, a complex with 3'-5' exoribonuclease activity that plays a role in numerous RNA processing and degradation activities. Related pseudogenes of this gene are found on chromosome 19 and 21. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2012]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | EXOSC3 |
| Official Name | exosome component 3 [Source:HGNC Symbol;Acc:HGNC:17944] |
| Ensembl ID | ENSG00000107371 |
| Bio databases IDs | |
| Aliases | exosome component 3, exosome component Rrp40, CGI-102 protein |
| Synonyms | 2310005D06Rik, bA3J10.7, CGI-102, Exosome component 3, hRrp-40, p10, PCH1B, RRP40, Rrp40p |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human EXOSC3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- S1_like
- K homology (KH) RNA-binding domain, type I
- KH domain
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- pontocerebellar hypoplasia type 1b
- non-syndromic congenital pontocerebellar hypoplasia
- hereditary disorder
- congenital myopathy
- infection by HIV-1
role in cell
- expression in
- class switching
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- Cytoplasm
- cytosol
- nucleoplasm
- nucleoli
- chromatin
- exosomes
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EXOSC3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- U4 snRNA 3'-end processing
- nuclear-transcribed mRNA catabolic process
- positive regulation of isotype switching
- DNA deamination
- RNA processing
- rRNA processing
- exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
- mRNA catabolic process
- RNA catabolic process
- nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay
- polyadenylation-dependent snoRNA 3'-end processing
- nuclear polyadenylation-dependent rRNA catabolic process
- CUT catabolic process
- nuclear polyadenylation-dependent tRNA catabolic process
- isotype switching
Cellular Component
Where in the cell the gene product is active
- cytoplasmic exosome (RNase complex)
- nucleus
- nuclear exosome (RNase complex)
- euchromatin
- cytoplasm
- cytosol
- nucleolus
- exosome (RNase complex)
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- 3'-5'-exoribonuclease activity
- protein binding
- RNA binding
- exoribonuclease activity