EPB41 Gene Summary
The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this gene are associated with type 1 elliptocytosis (EL1). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | EPB41 |
| Official Name | erythrocyte membrane protein band 4.1 [Source:HGNC Symbol;Acc:HGNC:3377] |
| Ensembl ID | ENSG00000159023 |
| Bio databases IDs | |
| Aliases | erythrocyte membrane protein band 4.1 |
| Synonyms | 4.1,4.1R,AI415518,BAND 4.1,D4Ertd442e,E41P,EL1,Elp1,Epb4.1,erythrocyte membrane protein band 4.1,HE,mKIAA4056,Protein 4.1,RGD1564762 |
| Species | Human, Homo sapiens |
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 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- core domain, structural
- FERM central domain
- Band 4.1 homologues
- SAB domain
- membrane-association domain
- phosphoprotein binding
- spectrin binding
- protein binding
- Pleckstrin homology-like domain
- phosphatidylinositol binding
- FERM N-terminal domain
- FERM domain
- FERM adjacent (FA)
- structural constituent of cytoskeleton
- spacer domain
- spectrin binding domain
- actin binding
- Ubl1_cv_Nsp3_N-like
- spectrin-actin binding domain
- FERM domain B-lobe
- 4.1 protein C-terminal domain (CTD)
- headpiece domain
- FERM C-terminal PH-like domain
Pathways
Biological processes and signaling networks where the EPB41 gene plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- Huntington disease
- hyperplasia
- hereditary elliptocytosis due to deficiency of protein 4.1
- hereditary elliptocytosis
- aortic valve calcification
- gout
- hemolytic anemia
- non-melanoma skin cancer
- sporadic amyotrophic lateral sclerosis
role in cell
- quantity
- expression in
- accumulation in
- distribution
- differentiation
- morphology
- formation
- binding
- surface area
- ubiquitination 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
- nuclear fraction
- membrane fraction
- kinocilia
- cell junction
- cortical cytoskeleton
- cytoskeleton
- Cytoplasm
- pericentrosomal region
- cellular membrane
- actin cytoskeleton
- cell cortex
- membrane skeleton
- Nucleus
- vesicles
- centrosome
- Endoplasmic Reticulum
- centriole
- microtubules
- intercellular junctions
- cell-cell contacts
- cytoplasmic bridges
- asters
- cytosol
- cytoplasmic face of plasma membrane
- basolateral membrane
- lateral plasma membrane
- centriolar appendages
- nucleoplasm
- nuclear bodies
- spindle pole
- nuclear speckles
- stereocilia bundles
- intercalated disks
- tight junctions
- junctional complexes
- membrane rafts
- mitotic spindle
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the EPB41 gene, providing context for its role in the cell.
biological PROCESS
Functions and activities the gene product is involved in
- cortical actin cytoskeleton organization
- cell division
- positive regulation of protein binding
- macromolecular complex assembly
- actomyosin structure organization
- regulation of calcium ion transport
- actin cytoskeleton organization
cellular COMPONENT
Where in the cell the gene product is active
- nuclear body
- plasma membrane
- internal side of plasma membrane
- intercellular bridge
- cytoskeleton
- mitotic spindle
- cell cortex
- cytosol
- cell junction
- macromolecular complex
- basolateral plasma membrane
- spectrin-associated cytoskeleton
- cortical cytoskeleton
molecular FUNCTION
What the gene product does at the molecular level
- calmodulin binding
- protein binding
- spectrin binding
- actin binding
- structural constituent of cytoskeleton
- phosphoprotein binding
- 1-phosphatidylinositol binding