EXOSC1 Gene Summary [Human]
This gene encodes a core component of the exosome. The mammalian exosome is required for rapid degradation of AU rich element-containing RNAs but not for poly(A) shortening. The association of this protein with the exosome is mediated by protein-protein interactions with ribosomal RNA-processing protein 42 and ribosomal RNA-processing protein 46. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Details
| Type | Protein Coding |
| Official Symbol | EXOSC1 |
| Official Name | exosome component 1 [Source:HGNC Symbol;Acc:HGNC:17286] |
| Ensembl ID | ENSG00000171311 |
| Bio databases IDs | |
| Aliases | exosome component 1, CSL4 exosomal core protein homolog (yeast) |
| Synonyms | 2610035C18Rik, 2610104C07RIK, 2610312F07Rik, CGI-108, CSL4, Csl4p, exosome component 1, p13, PCH1F, SKI4, Ski4p |
| 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 EXOSC1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ribosomal protein S1-like RNA-binding domain
- S1_like
- enzyme
- protein binding
- Exosome complex exonuclease RRP4 N-terminal region
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 1F
- organismal death
- infection by Hepatitis C virus genotype 2
regulates
role in cell
- niraparib sensitivity
- damage in
- mutagenesis in
- processing in
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
- cytosol
- nucleoplasm
- nucleoli
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EXOSC1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- RNA processing
- rRNA processing
- RNA catabolic process
Cellular Component
Where in the cell the gene product is active
- cytoplasmic exosome (RNase complex)
- nuclear exosome (RNase complex)
- nucleus
- cytoplasm
- cytosol
- nucleolus
- exosome (RNase complex)
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA binding
- exoribonuclease activity