EPB41L5: Erythrocyte Membrane Protein Band 4.1 Like 5
A key regulator of cell polarity, tight junction assembly, and epithelial-mesenchymal transition.
Gene Information Card
| Symbol | EPB41L5 |
|---|---|
| Full Name | Erythrocyte Membrane Protein Band 4.1 Like 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q14.2 |
| NCBI Gene ID | 57669 ncbi.nlm.nih.gov/gene/57669 |
| Ensembl ID | ENSG00000115159 |
| UniProt ID | Q9HCM4 |
| OMIM ID | 618885 |
| HGNC ID | 19819 |
| Aliases | YMO1, Yurt, LULU1 |
Description
EPB41L5 encodes a member of the band 4.1 superfamily, characterized by a FERM domain. The protein localizes to tight junctions and is essential for establishing apical-basal polarity in epithelial cells. It regulates the assembly of tight junctions and adherens junctions, and modulates cell migration and invasion. EPB41L5 is also implicated in the regulation of the Hippo signaling pathway and epithelial-mesenchymal transition (EMT).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephrotic syndrome type 23 | Loss of function mutations in EPB41L5 disrupt podocyte slit diaphragm integrity, leading to proteinuria and kidney disease. | OMIM #618885; ClinVar |
| Cancer (various) | Overexpression or altered localization of EPB41L5 promotes EMT, invasion, and metastasis in breast, lung, and colorectal cancers. | COSMIC; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.8 | Medium |
| Lung | 9.5 | Medium |
| Breast | 6.2 | Low |
| Colon | 5.1 | Low |
| Brain | 1.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| MCF7 | 8.7 | Medium expression |
| A549 | 7.1 | Medium expression |
| HCT116 | 4.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.157C>T (p.Arg53*) | Nonsense | <0.01% | Loss of function; associated with nephrotic syndrome |
| c.497G>A (p.Arg166Gln) | Missense | <0.01% | Likely loss of function; reported in kidney disease |
| c.1123A>G (p.Thr375Ala) | Missense | 0.02% | Unknown significance; rare population variant |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt the FERM domain lead to loss of tight junction integrity and polarity defects.
Gain of Function (GOF)
Not well characterized; overexpression in cancer cells is associated with increased EMT and invasion, but specific gain-of-function mutations have not been reported.
Dominant Negative (DN)
No dominant-negative mutations have been described for EPB41L5.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Hippo signaling pathway (Reactome: R-HSA-2028269)
• Tight junction interaction (Reactome: R-HSA-420029)
• Epithelial-to-mesenchymal transition (KEGG: hsa05205)
Protein Summary
EPB41L5 is a 737-amino acid protein containing an N-terminal FERM domain and a C-terminal domain that interacts with the Hippo pathway components. It localizes to tight junctions and is required for the formation of the apical junctional complex. The protein regulates cell polarity by recruiting the Par3/Par6/aPKC complex and modulates YAP/TAZ activity. In cancer, EPB41L5 overexpression correlates with poor prognosis and metastatic potential.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPB41L5 Knockout HEK293 Cell Line | EDJ-KQ13299 | Human | 57669 | Details Get a Quote |
| EPB41L5 Knockout HeLa Cell Line | EDJ-KQ41515 | Human | 57669 | Details Get a Quote |
| EPB41L5 Knockout A-549 Cell Line | EDJ-KQ42749 | Human | 57669 | Details Get a Quote |
| EPB41L5 Knockout HCT 116 Cell Line | EDJ-KQ42750 | Human | 57669 | Details Get a Quote |
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