EPB41L1
Erythrocyte Membrane Protein Band 4.1 Like 1
Gene Information Card
| Symbol | EPB41L1 |
|---|---|
| Full Name | Erythrocyte Membrane Protein Band 4.1 Like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q11.23 |
| NCBI Gene ID | 2036 ncbi.nlm.nih.gov/gene/2036 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9H4G0 |
| OMIM ID | 602879 |
| HGNC ID | 3378 |
| Aliases | 4.1N, KIAA0338, RP11-540A21.1 |
Description
EPB41L1 encodes a member of the erythrocyte membrane protein band 4.1 family. This protein, also known as 4.1N, is a cytoskeletal protein that links the plasma membrane to the actin cytoskeleton. It is predominantly expressed in neuronal tissues and plays a role in synaptic plasticity, cell adhesion, and membrane stability. Mutations in EPB41L1 have been associated with neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and autistic features | Loss-of-function mutations disrupt cytoskeletal organization in neurons | ClinVar; PMID: 27545674 |
| Epileptic encephalopathy | De novo missense variants impair protein function | ClinVar; PMID: 28135719 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 23.4 | High |
| Testis | 6.2 | Medium |
| Heart | 3.1 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.5 | Neuronal model |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
| U-87 MG (glioblastoma) | 15.3 | Glial model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1273C>T (p.Arg425Ter) | Nonsense | <0.01% | Loss of function |
| c.1586G>A (p.Arg529His) | Missense | <0.01% | Unknown effect |
| c.2020_2021del (p.Val674fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to premature termination codons and likely nonsense-mediated decay.
Gain of Function (GOF)
No evidence for gain-of-function mutations in EPB41L1.
Dominant Negative (DN)
Missense variants may exert dominant-negative effects by interfering with protein-protein interactions, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • cytoskeleton (GO:0005856) | • protein binding (GO:0005515) |
| • cytoskeletal protein binding (GO:0008092) | • cell junction (GO:0030054) |
| • synapse (GO:0045202) |
Pathways
• Cytoskeletal regulation by Rho GTPase (Reactome: R-HSA-5663205)
• Cell junction organization (Reactome: R-HSA-446728)
Protein Summary
EPB41L1 encodes protein 4.1N, a 100 kDa cytoskeletal protein that belongs to the band 4.1 family. It contains a FERM domain (4.1, ezrin, radixin, moesin) that mediates binding to transmembrane proteins and the actin cytoskeleton. 4.1N is highly expressed in the brain, where it localizes to synapses and dendritic spines, regulating synaptic structure and function. It interacts with proteins such as spectrin, actin, and the glutamate receptor subunits.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPB41L1 Knockout HEK293 Cell Line | EDJ-KQ4536 | Human | 2036 | Details Get a Quote |
| EPB41L1 Knockout A-549 Cell Line | EDJ-KQ27158 | Human | 2036 | Details Get a Quote |
| EPB41L1 Knockout HCT 116 Cell Line | EDJ-KQ27159 | Human | 2036 | Details Get a Quote |
| EPB41L1 Knockout HeLa Cell Line | EDJ-KQ27160 | Human | 2036 | Details Get a Quote |
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