ZSWIM8: A Key Regulator of MicroRNA-Mediated Gene Silencing
Explore the genomic architecture, expression patterns, and clinical significance of ZSWIM8, a zinc finger protein involved in microRNA degradation and cancer biology.
Gene Information Card
| Symbol | ZSWIM8 |
|---|---|
| Full Name | Zinc Finger SWIM-Type Containing 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q22.3 |
| NCBI Gene ID | 23053 ncbi.nlm.nih.gov/gene/23053 |
| Ensembl ID | ENSG00000119977 |
| UniProt ID | A2A288 |
| OMIM ID | 617785 |
| HGNC ID | 29323 |
| Aliases | C10orf46, FLJ13154, KIAA0913, SWIM |
Description
ZSWIM8 encodes a protein containing a SWIM zinc finger domain, which is implicated in protein-protein interactions and DNA binding. It is a component of the SCF-like E3 ubiquitin ligase complex that targets microRNAs for degradation, thereby regulating gene silencing. ZSWIM8 is involved in various cellular processes including neurodevelopment and tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuroblastoma | ZSWIM8 mutations may disrupt microRNA degradation, leading to altered oncogene expression and tumor progression. | COSMIC and literature reports indicate recurrent mutations in neuroblastoma. |
| Colorectal cancer | Altered ZSWIM8 expression may affect microRNA-mediated regulation of tumor suppressors and oncogenes. | Expression studies show differential regulation in tumor tissues. |
| Breast cancer | Potential role in microRNA turnover affecting cell proliferation and metastasis. | Preliminary studies suggest correlation with poor prognosis. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Testis | 8.7 | Low |
| Kidney | 6.2 | Low |
| Liver | 4.5 | Low |
| Heart | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.8 | Moderate expression |
| MCF7 | 7.5 | Low expression |
| A549 | 5.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Lys412Glu) | Missense | 0.5% in neuroblastoma | Potential loss of function affecting microRNA binding. |
| c.567_568del (p.Glu189fs) | Frameshift | 0.2% in colorectal cancer | Truncated protein, likely loss of function. |
| c.890C>T (p.Pro297Leu) | Missense | 0.1% in breast cancer | Unknown effect, possibly damaging. |
Mutation functional classification
Loss of Function (LOF)
Frameshift and truncating mutations are likely to result in loss of function, impairing the SCF complex assembly and microRNA degradation.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations in the SWIM domain may exert dominant-negative effects by interfering with complex formation.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • zinc ion binding (GO:0008270) |
| • ubiquitin-dependent protein catabolic process (GO:0006511) | • gene silencing by miRNA (GO:0035195) |
| • nucleus (GO:0005634) |
Pathways
• MicroRNA (miRNA) biogenesis and degradation
• Ubiquitin-mediated proteolysis (SCF complex)
Protein Summary
The ZSWIM8 protein is a 120 kDa polypeptide that contains a SWIM zinc finger domain, which is known to mediate protein-protein interactions. It functions as a substrate receptor for the SCF-like E3 ubiquitin ligase complex, facilitating the ubiquitination and subsequent degradation of microRNAs. This process is critical for the regulation of gene expression, particularly in neuronal tissues and cancer cells. ZSWIM8 is localized to the nucleus and is involved in the fine-tuning of miRNA levels, thereby influencing downstream target gene expression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZSWIM8 Knockout HEK293 Cell Line | EDJ-KQ7795 | Human | 23053 | Details Get a Quote |
| ZSWIM8 Knockout A-549 Cell Line | EDJ-KQ33295 | Human | 23053 | Details Get a Quote |
| ZSWIM8 Knockout HCT 116 Cell Line | EDJ-KQ33296 | Human | 23053 | Details Get a Quote |
| ZSWIM8 Knockout HeLa Cell Line | EDJ-KQ33297 | Human | 23053 | Details Get a Quote |
