EPB41L3 Gene Summary [Human]
Predicted to enable cytoskeletal protein-membrane anchor activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in several processes, including nervous system development; paranodal junction maintenance; and protein localization to paranode region of axon. Located in cell-cell junction and plasma membrane. Biomarker of meningioma. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | EPB41L3 |
| Official Name | erythrocyte membrane protein band 4.1 like 3 [Source:HGNC Symbol;Acc:HGNC:3380] |
| Ensembl ID | ENSG00000082397 |
| Bio databases IDs | |
| Aliases | erythrocyte membrane protein band 4.1 like 3 |
| Synonyms | 4.1B, DAL-1, DAL1P, EPB4.1L3, erythrocyte membrane protein band 4.1-like 3, Kiaa0987, NBL3 |
| 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 EPB41L3 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
- SAB domain
- protein binding activity, bridging
- protein binding
- Pleckstrin homology-like domain
- cytoskeletal adaptor
- FERM N-terminal domain
- FERM domain
- FERM adjacent (FA)
- structural constituent of cytoskeleton
- Ubl1_cv_Nsp3_N-like
- spectrin-actin binding domain
- U2 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
- cancer
- colorectal cancer
- prostate cancer
- organismal death
- epithelial cancer
- androgenic alopecia
- prostatic neoplasia
- pelvic cancer
- urogenital cancer
- abdominal cancer
role in cell
- proliferation
- growth
- colony formation
- development
- cytostasis
- organization
- morphogenesis
- accumulation in
- abnormal morphology
- clustering in
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
- glutaminergic synapse
- cell junction
- axon component
- cilia
- postsynaptic region
- cellular membrane
- focal adhesions
- basal bodies
- intercellular junctions
- cell-cell contacts
- cytosol
- axonal membrane
- paranodes
- paranodal junctions
- juxtaparanodes
- internodes
- perikaryon
- axons
- postsynaptic density
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EPB41L3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cortical actin cytoskeleton organization
- regulation of cell shape
- cortical cytoskeleton organization
- paranodal junction assembly
- actomyosin structure organization
- apoptotic process
- neuron projection morphogenesis
- protein localization to juxtaparanode region of axon
- protein localization to paranode region of axon
- myelin maintenance
- protein localization in plasma membrane
Cellular Component
Where in the cell the gene product is active
- paranode region of axon
- cytoskeleton
- cell-cell junction
- cytosol
- cell junction
- axolemma
- juxtaparanode region of axon
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- actin binding
- structural constituent of cytoskeleton