SKIL (SKI Like Proto-Oncogene)
Transcriptional regulator involved in TGF-β signaling and cancer
Gene Information Card
| Symbol | SKIL |
|---|---|
| Full Name | SKI-like proto-oncogene |
| Gene Type | Protein coding |
| Chromosomal Location | 3q26.33 |
| NCBI Gene ID | 6498 ncbi.nlm.nih.gov/gene/6498 |
| Ensembl ID | ENSG00000114529 |
| UniProt ID | P12757 |
| OMIM ID | 165340 |
| HGNC ID | 10897 |
| Aliases | Sno, SnoN, SnoA, SnoI |
Description
The SKIL gene encodes a nuclear protein that functions as a transcriptional repressor. It is a member of the SKI family of proteins and negatively regulates TGF-β signaling by interacting with SMAD proteins. SKIL is considered a proto-oncogene due to its role in cell proliferation and differentiation, and its overexpression is observed in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | Overexpression of SKIL disrupts TGF-β-mediated growth inhibition | PMID: 10655551 |
| Colorectal cancer | SKIL amplification leads to enhanced cell proliferation | PMID: 19029981 |
| Breast cancer | SKIL overexpression correlates with poor prognosis and metastasis | PMID: 21725362 |
| Pancreatic cancer | SKIL promotes tumor growth by inhibiting SMAD2/3 signaling | PMID: 23563181 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Heart | 3.8 | Low |
| Liver | 4.1 | Low |
| Lung | 6.0 | Medium |
| Kidney | 5.5 | Medium |
| Testis | 8.9 | Medium |
| Placenta | 10.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 7.2 | Cervical cancer cell line |
| A549 | 6.8 | Lung cancer cell line |
| MCF7 | 5.9 | Breast cancer cell line |
| HEK293 | 4.5 | Embryonic kidney cell line |
| K562 | 8.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | 0.01% | p.Met1Val; potential loss of start codon |
| c.124G>A | Missense | 0.02% | p.Glu42Lys; uncertain significance |
| c.1054C>T | Nonsense | 0.005% | p.Arg352*; predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg352*) lead to truncated protein and loss of repressor activity.
Gain of Function (GOF)
Amplification or overexpression of wild-type SKIL enhances oncogenic signaling.
Dominant Negative (DN)
Not reported for SKIL.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (KEGG: hsa04350)
• SMAD protein signal transduction (Reactome: R-HSA-2173789)
Protein Summary
The SKIL protein (SnoN) is a 684-amino acid nuclear protein that acts as a transcriptional corepressor. It contains a SKI domain and a coiled-coil region. SnoN binds to SMAD2/SMAD3 complexes and recruits histone deacetylases to repress TGF-β target genes. Its overexpression is oncogenic in multiple cancer types.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SKIL Knockout HEK293 Cell Line | EDJ-KQ5755 | Human | 6498 | Details Get a Quote |
| SKIL Knockout A-549 Cell Line | EDJ-KQ29169 | Human | 6498 | Details Get a Quote |
| SKIL Knockout HCT 116 Cell Line | EDJ-KQ29170 | Human | 6498 | Details Get a Quote |
| SKIL Knockout HeLa Cell Line | EDJ-KQ29171 | Human | 6498 | Details Get a Quote |
