SNAI1 (Snail Family Transcriptional Repressor 1)
Key regulator of epithelial-mesenchymal transition (EMT) in development and cancer metastasis
Gene Information Card
| Symbol | SNAI1 |
|---|---|
| Full Name | Snail Family Transcriptional Repressor 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 20q13.13 |
| NCBI Gene ID | 6615 ncbi.nlm.nih.gov/gene/6615 |
| Ensembl ID | ENSG00000124216 |
| UniProt ID | O95863 |
| OMIM ID | 604238 |
| HGNC ID | 11128 |
| Aliases | SNA, SNAIL, SNAIL1, SLUGH2, ZNF174 |
Description
SNAI1 encodes a zinc-finger transcription factor that represses E-cadherin expression and induces epithelial-mesenchymal transition (EMT). It is a master regulator of embryonic development, cell migration, and invasion. SNAI1 is frequently overexpressed in various cancers and is associated with poor prognosis, metastasis, and drug resistance. It also plays roles in fibrosis, wound healing, and immune regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | SNAI1 overexpression represses CDH1 (E-cadherin), promoting EMT, invasion, and metastasis. | ClinVar, COSMIC, PubMed |
| Colorectal Cancer | SNAI1 upregulation correlates with EMT, lymph node metastasis, and poor survival. | COSMIC, PubMed |
| Gastric Cancer | SNAI1 expression linked to EMT, invasion, and chemoresistance. | PubMed |
| Non-Small Cell Lung Cancer | SNAI1 promotes EMT and metastasis; associated with poor prognosis. | COSMIC, PubMed |
| Hepatocellular Carcinoma | SNAI1 induces EMT and contributes to tumor progression and recurrence. | PubMed |
| Ovarian Cancer | SNAI1 overexpression associated with EMT, metastasis, and platinum resistance. | PubMed |
| Pancreatic Cancer | SNAI1 drives EMT and is linked to aggressive disease and metastasis. | COSMIC, PubMed |
| Prostate Cancer | SNAI1 promotes EMT and bone metastasis. | PubMed |
| Renal Cell Carcinoma | SNAI1 expression correlates with EMT and poor outcome. | PubMed |
| Melanoma | SNAI1 contributes to EMT and invasion. | PubMed |
| Fibrosis (various tissues) | SNAI1 induces EMT in fibroblasts, contributing to organ fibrosis. | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Spleen | 8.7 | Low |
| Bone marrow | 7.9 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Breast | 4.8 | Low |
| Colon | 3.2 | Low |
| Liver | 2.1 | Low |
| Heart | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.3 | Moderate expression |
| A549 (lung cancer) | 12.8 | Moderate expression |
| HeLa (cervical cancer) | 10.5 | Moderate expression |
| HepG2 (liver cancer) | 8.2 | Low expression |
| K562 (leukemia) | 6.7 | Low expression |
| SH-SY5Y (neuroblastoma) | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Likely loss of function; start codon loss |
| c.101C>T (p.Pro34Leu) | Missense | <0.1% | Unknown significance |
| c.202G>A (p.Gly68Arg) | Missense | <0.1% | Unknown significance |
| c.301C>T (p.Arg101Trp) | Missense | <0.1% | Unknown significance |
| c.403G>A (p.Gly135Arg) | Missense | <0.1% | Unknown significance |
| c.502C>T (p.Arg168Cys) | Missense | <0.1% | Unknown significance |
| c.601G>A (p.Gly201Arg) | Missense | <0.1% | Unknown significance |
| c.700C>T (p.Arg234Trp) | Missense | <0.1% | Unknown significance |
| c.799G>A (p.Gly267Arg) | Missense | <0.1% | Unknown significance |
| c.898C>T (p.Arg300Cys) | Missense | <0.1% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in SNAI1 are rare and may impair its repressor activity, potentially affecting EMT regulation. No well-characterized pathogenic loss-of-function variants are reported in ClinVar.
Gain of Function (GOF)
Gain-of-function is primarily driven by overexpression rather than mutation. Overexpression leads to enhanced EMT, invasion, and metastasis in multiple cancers.
Dominant Negative (DN)
No dominant-negative mutations have been described for SNAI1 in the literature or curated databases.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Epithelial-mesenchymal transition (EMT) pathway (Reactome: R-HSA-1266738)
• TGF-beta signaling pathway (KEGG: hsa04350)
• Wnt signaling pathway (KEGG: hsa04310)
• Notch signaling pathway (KEGG: hsa04330)
• p53 signaling pathway (KEGG: hsa04115)
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Focal adhesion (KEGG: hsa04510)
Protein Summary
The SNAI1 protein (Snail1) is a 264-amino acid zinc-finger transcription factor containing an N-terminal SNAG domain and four C-terminal C2H2 zinc fingers. It binds to E-box sequences (CANNTG) in target gene promoters, primarily repressing CDH1 (E-cadherin) and other epithelial markers. Snail1 is a master inducer of EMT, promoting cell motility, invasion, and stemness. Its expression is tightly regulated at transcriptional, post-transcriptional, and post-translational levels. Snail1 is stabilized by phosphorylation and interacts with various co-repressors (e.g., HDACs, G9a, LSD1). Dysregulation of Snail1 is a hallmark of metastatic cancer and fibrotic diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNAI1 Knockout HEK293 Cell Line | EDJ-KQ15405 | Human | 6615 | Details Get a Quote |
| SNAI1 Knockout HCT 116 Cell Line | EDJ-KQ46172 | Human | 6615 | Details Get a Quote |
| SNAI1 Knockout HeLa Cell Line | EDJ-KQ46173 | Human | 6615 | Details Get a Quote |
| SNAI1 Knockout A-549 Cell Line | EDJ-KQ26295 | Human | 6615 | Details Get a Quote |
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