EXOSC9 Gene Summary [Human]
This gene encodes a component of the human exosome, a exoribonuclease complex which processes and degrades RNA in the nucleus and cytoplasm. This component may play a role in mRNA degradation and the polymyositis/scleroderma autoantigen complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Details
| Type | Processed Transcript |
| Official Symbol | EXOSC9 |
| Official Name | exosome component 9 [Source:HGNC Symbol;Acc:HGNC:9137] |
| Ensembl ID | ENSG00000123737 |
| Bio databases IDs | |
| Aliases | exosome component 9, polymyositis/scleroderma autoantigen 1 (75kD) |
| Synonyms | exosome component 9, p5, p6, PCH1D, PMSCL1, PM/SCL-75, Polymyositis/scleroderma autoantigen 1, RRP45, Rrp45p |
| 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 EXOSC9 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 3' exoribonuclease family, domain 2
- RNase PH-like 3'-5' exoribonucleases
- mRNA 3' UTR binding
- nuclear localization sequence
- transcription factor binding
- enzyme
- protein binding
- 3' exoribonuclease family, domain 1
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- primary antiphospholipid antibody syndrome
- pontocerebellar hypoplasia type 1D
- non-syndromic congenital pontocerebellar hypoplasia
- colon cancer
- diabetic nephropathy
regulates
- RNA polymerase II
- CSF2
- TERRA
- DNA promoter
- DNA endogenous promoter
role in cell
- growth
- tumorsphere formation by
- degradation 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
- interchromatin granule cluster fractions
- Cytoplasm
- cytosol
- chromosome
- nucleoplasm
- nucleoli
- telomeres
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EXOSC9 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
- U1 snRNA 3'-end processing
- nuclear-transcribed mRNA catabolic process
- RNA processing
- rRNA processing
- mRNA catabolic process
- positive regulation of transcription from RNA polymerase II promoter
- exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
- RNA catabolic process
- nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay
- positive regulation of cell growth
- immune response
- nuclear polyadenylation-dependent rRNA catabolic process
- nuclear mRNA surveillance
- nuclear polyadenylation-dependent tRNA catabolic process
- U5 snRNA 3'-end processing
Cellular Component
Where in the cell the gene product is active
- cytoplasmic exosome (RNase complex)
- nucleus
- nuclear exosome (RNase complex)
- extracellular vesicular exosome
- cytoplasm
- nuclear chromosome
- cytosol
- nucleolus
- nucleoplasm
- exosome (RNase complex)
Molecular Function
What the gene product does at the molecular level
- 3'-5'-exoribonuclease activity
- protein binding
- RNA binding
- mRNA 3'-UTR AU-rich region binding
- exoribonuclease activity