DLEC1 Gene: Deleted in Lung and Esophageal Cancer 1
A tumor suppressor gene frequently inactivated in multiple cancers
Gene Information Card
| Symbol | DLEC1 |
|---|---|
| Full Name | Deleted in Lung and Esophageal Cancer 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p22.3 |
| NCBI Gene ID | 9940 ncbi.nlm.nih.gov/gene/9940 |
| Ensembl ID | ENSG00000163874 |
| UniProt ID | Q9Y238 |
| OMIM ID | 604050 |
| HGNC ID | 2899 |
| Aliases | DLC1, DLC-1, FLJ10713, FLJ32115 |
Description
DLEC1 (Deleted in Lung and Esophageal Cancer 1) is a protein-coding gene located on chromosome 3p22.3. It functions as a tumor suppressor gene, frequently inactivated by deletion or promoter hypermethylation in various cancers, including lung, esophageal, renal, and ovarian cancers. The encoded protein is involved in cell cycle regulation, apoptosis, and cytoskeletal organization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung cancer | Loss of DLEC1 expression via deletion or hypermethylation contributes to tumorigenesis | PMID: 10417763, COSMIC |
| Esophageal cancer | Frequent allelic loss and promoter methylation of DLEC1 | PMID: 10417763, COSMIC |
| Renal cell carcinoma | Hypermethylation of DLEC1 promoter associated with tumor progression | PMID: 15696246 |
| Ovarian cancer | DLEC1 downregulation via methylation in ovarian tumors | PMID: 15696246 |
| Breast cancer | Reduced DLEC1 expression linked to poor prognosis | PMID: 15696246 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 5.2 | Low |
| Esophagus | 4.8 | Low |
| Kidney | 6.1 | Low |
| Ovary | 3.9 | Low |
| Breast | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung cancer) | 2.1 | Low expression due to methylation |
| H1299 (lung cancer) | 1.8 | Low expression due to deletion |
| HEK293 (embryonic kidney) | 8.5 | Normal expression |
| MCF7 (breast cancer) | 3.2 | Reduced expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <1% | Unknown |
| c.1234C>T | Nonsense | <1% | Loss of function |
| Promoter hypermethylation | Epigenetic | Frequent in tumors | Silencing of gene expression |
Mutation functional classification
Loss of Function (LOF)
Promoter hypermethylation and nonsense mutations lead to loss of DLEC1 expression, contributing to tumor suppression loss.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) | • apoptotic process (GO:0006915) |
| • cell cycle (GO:0007049) | • membrane (GO:0016020) |
Pathways
• hsa05200: Pathways in cancer
• hsa04115: p53 signaling pathway
• hsa04210: Apoptosis
Protein Summary
The DLEC1 protein (UniProt Q9Y238) is a 1,755-amino acid cytoplasmic protein involved in cell cycle regulation and apoptosis. It contains a coiled-coil domain and is thought to interact with cytoskeletal components. Loss of DLEC1 expression is a hallmark of several cancers, primarily due to epigenetic silencing or genomic deletion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DLEC1 Knockout HEK293 Cell Line | EDJ-KQ6831 | Human | 9940 | Details Get a Quote |
| DLEC1 Knockout HeLa Cell Line | EDJ-KQ55281 | Human | 9940 | Details Get a Quote |
| DLEC1 Knockout A-549 Cell Line | EDJ-KQ63763 | Human | 9940 | Details Get a Quote |
| DLEC1 Knockout HCT 116 Cell Line | EDJ-KQ72223 | Human | 9940 | Details Get a Quote |
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