EPB41L1 Gene Summary [Human]
Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
Details
| Type | Protein Coding |
| Official Symbol | EPB41L1 |
| Official Name | erythrocyte membrane protein band 4.1 like 1 [Source:HGNC Symbol;Acc:HGNC:3378] |
| Ensembl ID | ENSG00000088367 |
| 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 | Human, Homo sapiens |
| 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 human 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 human 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