Epb41l1 Gene Summary [Mouse]
Predicted to enable signaling receptor binding activity. Involved in regulation of exocytic insertion of neurotransmitter receptor to postsynaptic membrane. Located in postsynaptic density. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; limb; and respiratory system. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 11. Orthologous to human EPB41L1 (erythrocyte membrane protein band 4.1 like 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Epb41l1 |
| Official Name | erythrocyte membrane protein band 4.1 like 1 [Source:MGI Symbol;Acc:MGI:103010] |
| Ensembl ID | ENSMUSG00000027624 |
| Bio databases IDs | |
| Aliases | erythrocyte membrane protein band 4.1 like 1 |
| Synonyms | 4.1N, E41L1, EPB4.1L1, erythrocyte membrane protein band 4.1-like 1, LOC100911769, mKIAA0338, MRD11, NBL1, Neuronal protein 4.1 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Epb41l1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- FERM central domain
- Band 4.1 homologues
- membrane-association domain
- protein binding
- receptor binding
- Pleckstrin homology-like domain
- FERM N-terminal domain
- FERM adjacent (FA)
- Ubl1_cv_Nsp3_N-like
- polyglutamine repeat
- spectrin-actin binding domain
- FERM domain B-lobe
- 4.1 protein C-terminal domain (CTD)
- FERM C-terminal PH-like domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- squamous cell cancer
- epithelial cancer
- cancer
- non-melanoma skin cancer
- idiopathic scoliosis
- aortic valve calcification
- epithelial basal cell carcinoma
- autosomal dominant mental retardation type 11
- squamous-cell carcinoma
- melanoma
role in cell
- morphology
- stabilization in
- diffusion in
- G1 phase
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- membrane fraction
- cell-associated matrix
- presynaptic regions
- cell periphery
- postsynaptic region
- Nucleus
- cytosol
- synaptic membrane
- dendritic spines
- growth cone
- stereocilia bundles
- perikaryon
- axons
- dendrites
- postsynaptic density
- axon terminals
- excitatory synapses
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Epb41l1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cortical actin cytoskeleton organization
- actomyosin structure organization
Cellular Component
Where in the cell the gene product is active
- cytoskeleton
- cytosol
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- actin binding
- structural molecule activity