TLE1 Gene - Transducin-Like Enhancer of Split 1
Corepressor in the Notch Signaling Pathway and Its Role in Cancer and Development
Gene Information Card
| Symbol | TLE1 |
|---|---|
| Full Name | Transducin-Like Enhancer of Split 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q21.32 |
| NCBI Gene ID | 7088 ncbi.nlm.nih.gov/gene/7088 |
| Ensembl ID | ENSG00000196781 |
| UniProt ID | Q04724 |
| OMIM ID | 600189 |
| HGNC ID | 11837 |
| Aliases | ESG, GRG1, TLE1A, TLE1B, TLE1C |
Description
TLE1 encodes a member of the TLE family of transcriptional corepressors that interact with Hairy/Enhancer of Split (HES) proteins to mediate repression downstream of the Notch signaling pathway. TLE1 is involved in cell fate determination, neurogenesis, and hematopoiesis. Overexpression is a diagnostic marker for synovial sarcoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Synovial sarcoma | TLE1 overexpression due to SS18-SSX fusion proteins leads to aberrant transcriptional repression and oncogenesis. | ClinVar, COSMIC |
| Acute myeloid leukemia | TLE1 mutations may disrupt Notch-mediated hematopoietic differentiation. | COSMIC, NCBI |
| Colorectal cancer | TLE1 downregulation correlates with Wnt pathway activation and poor prognosis. | NCBI, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Heart | 6.1 | Low |
| Liver | 4.2 | Low |
| Testis | 15.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney, moderate expression |
| K562 | 7.8 | Leukemia cell line, low expression |
| A549 | 5.4 | Lung carcinoma, low expression |
| SW982 | 18.9 | Synovial sarcoma cell line, high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | <0.1% | Alters WD40 domain, potential loss of repressor function |
| c.1456_1457del (p.Leu486fs) | Frameshift | <0.05% | Truncation, loss of function |
| c.789G>A (p.Trp263*) | Nonsense | <0.01% | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in TLE1 lead to truncated proteins lacking the C-terminal WD40 domain required for corepressor activity.
Gain of Function (GOF)
Not well documented; overexpression in synovial sarcoma is driven by fusion oncoproteins rather than TLE1 mutations.
Dominant Negative (DN)
Missense mutations in the WD40 domain may produce proteins that compete with wild-type TLE1, impairing repression.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Notch signaling pathway (KEGG: hsa04330)
• Transcriptional misregulation in cancer (KEGG: hsa05202)
Protein Summary
TLE1 is a 770-amino-acid nuclear protein containing an N-terminal glutamine-rich domain and a C-terminal WD40 repeat domain. It functions as a transcriptional corepressor by recruiting histone deacetylases (HDACs) to target promoters via interaction with HES/HEY transcription factors. TLE1 is essential for proper segmentation, neural development, and hematopoiesis. Its overexpression is a hallmark of synovial sarcoma.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TLE1 Knockout HEK293 Cell Line | EDJ-KQ341 | Human | 7088 | Details Get a Quote |
| TLE1 Knockout A-549 Cell Line | EDJ-KQ18263 | Human | 7088 | Details Get a Quote |
| TLE1 Knockout HCT 116 Cell Line | EDJ-KQ18516 | Human | 7088 | Details Get a Quote |
| TLE1 Knockout HeLa Cell Line | EDJ-KQ18517 | Human | 7088 | Details Get a Quote |
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