SWT1 RNA Endoribonuclease Homolog
A key regulator of RNA metabolism and transcriptional quality control
Gene Information Card
| Symbol | SWT1 |
|---|---|
| Full Name | SWT1 RNA endoribonuclease homolog |
| Gene Type | Protein coding |
| Chromosomal Location | 1q25.3 |
| NCBI Gene ID | 54823 ncbi.nlm.nih.gov/gene/54823 |
| Ensembl ID | ENSG00000143314 |
| UniProt ID | Q9H0L4 |
| OMIM ID | 617726 |
| HGNC ID | 28705 |
| Aliases | C1orf26, FLJ10330, MGC13170 |
Description
SWT1 encodes an RNA endoribonuclease that is involved in transcriptional quality control. It is a component of the TRAMP complex, which polyadenylates and targets aberrant RNAs for exosome-mediated degradation. SWT1 plays a critical role in the surveillance and turnover of defective transcripts, ensuring RNA fidelity and cellular homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | SWT1 mutations may disrupt RNA surveillance, leading to accumulation of aberrant transcripts and oncogenic transformation. | Limited evidence from COSMIC and literature. |
| Neurodevelopmental disorders | Potential link due to role in RNA metabolism, but direct evidence is lacking. | No direct association in ClinVar or OMIM. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 8.2 | Low |
| Lymph node | 6.1 | Low |
| Brain | 4.3 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cells |
| HeLa | 7.5 | Cervical cancer cells |
| K562 | 6.8 | Leukemia cells |
| A549 | 5.2 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Ile) | Missense | 0.01% (COSMIC) | Unknown functional impact |
| c.205G>A (p.Gly69Ser) | Missense | 0.005% (COSMIC) | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; predicted to impair RNA endoribonuclease activity.
Gain of Function (GOF)
No evidence.
Dominant Negative (DN)
No evidence.
View complete mutation data：
Gene Ontology (GO)
| • RNA endoribonuclease activity | • nucleic acid binding |
| • nucleus | • TRAMP complex |
| • RNA surveillance | • poly(A)-dependent RNA catabolic process |
Pathways
• RNA surveillance (TRAMP complex)
• Exosome-mediated RNA degradation
Protein Summary
SWT1 is a 548-amino acid protein with RNA endoribonuclease activity. It localizes to the nucleus and is a core component of the TRAMP complex, which polyadenylates aberrant RNAs to facilitate their degradation by the exosome. SWT1 is essential for maintaining RNA quality control and preventing the accumulation of defective transcripts.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SWT1 Knockout HEK293 Cell Line | EDJ-KQ1675 | Human | 54823 | Details Get a Quote |
| SWT1 Knockout A-549 Cell Line | EDJ-KQ22773 | Human | 54823 | Details Get a Quote |
| SWT1 Knockout HCT 116 Cell Line | EDJ-KQ22775 | Human | 54823 | Details Get a Quote |
| SWT1 Knockout HeLa Cell Line | EDJ-KQ22776 | Human | 54823 | Details Get a Quote |
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