EPB41L3 (Erythrocyte Membrane Protein Band 4.1 Like 3)
A member of the 4.1 family of cytoskeletal proteins involved in cell adhesion, motility, and tumor suppression.
Gene Information Card
| Symbol | EPB41L3 |
|---|---|
| Full Name | Erythrocyte Membrane Protein Band 4.1 Like 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 18p11.32 |
| NCBI Gene ID | 23136 ncbi.nlm.nih.gov/gene/23136 |
| Ensembl ID | ENSG00000134352 |
| UniProt ID | Q9Y2J2 |
| OMIM ID | 605331 |
| HGNC ID | 3382 |
| Aliases | 4.1B, DAL1, DAL-1, EPB41L3 |
Description
EPB41L3 encodes a member of the protein 4.1 family, which links the spectrin-actin cytoskeleton to the plasma membrane. The encoded protein, 4.1B (also known as DAL-1), is widely expressed and plays roles in cell adhesion, motility, and growth regulation. It is frequently downregulated or lost in various cancers, suggesting a tumor suppressor function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Meningioma | Loss of EPB41L3 expression correlates with tumor progression; acts as a tumor suppressor by modulating cell adhesion and proliferation. | Multiple studies (e.g., Gutmann et al., 2000; NCBI GeneReviews) |
| Breast Cancer | Reduced expression of EPB41L3 is associated with invasive phenotype; re-expression suppresses cell migration and invasion. | Immunohistochemistry and functional assays (e.g., Tran et al., 1999; COSMIC) |
| Lung Cancer | EPB41L3 promoter hypermethylation and loss of expression contribute to tumorigenesis. | Methylation-specific PCR and expression analysis (e.g., Kikuchi et al., 2005; ClinVar) |
| Prostate Cancer | Downregulation of EPB41L3 is linked to aggressive disease and metastasis. | Gene expression profiling and functional studies (e.g., Wong et al., 2007; OMIM) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 6.1 | Low |
| Prostate | 5.4 | Low |
| Kidney | 10.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression in embryonic kidney cells |
| MCF7 | 4.2 | Low expression in breast cancer cell line |
| A549 | 3.8 | Low expression in lung cancer cell line |
| U87MG | 6.5 | Medium expression in glioblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Premature truncation; loss of function |
| c.567_568del (p.Glu190fs) | Frameshift | <0.1% | Frameshift leading to nonsense-mediated decay |
| c.890G>A (p.Arg297Gln) | Missense | <0.1% | Unknown significance; predicted benign by in silico tools |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg412*, p.Glu190fs) lead to truncated or absent protein, consistent with tumor suppressor loss.
Gain of Function (GOF)
No gain-of-function mutations reported for EPB41L3.
Dominant Negative (DN)
No dominant-negative mutations described for EPB41L3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cytoskeleton remodeling (REACT_18266)
• Cell adhesion and migration (WP455)
Protein Summary
The EPB41L3 protein (4.1B) is a 108 kDa member of the protein 4.1 family. It contains a conserved FERM domain that mediates binding to membrane proteins and the spectrin-actin cytoskeleton. 4.1B is involved in maintaining cell shape, adhesion, and motility. Loss of 4.1B expression is observed in multiple cancers, and its re-expression suppresses tumor cell growth and invasion, supporting its role as a tumor suppressor.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPB41L3 Knockout HEK293 Cell Line | EDJ-KQ3882 | Human | 23136 | Details Get a Quote |
| EPB41L3 Knockout A-549 Cell Line | EDJ-KQ26093 | Human | 23136 | Details Get a Quote |
| EPB41L3 Knockout HeLa Cell Line | EDJ-KQ55692 | Human | 23136 | Details Get a Quote |
| EPB41L3 Knockout HCT 116 Cell Line | EDJ-KQ72635 | Human | 23136 | Details Get a Quote |
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