EPB41
Function
Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It plays a key role in regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin interaction. Recruits DLG1 to membranes. Required for dynein-dynactin complex and NUMA1 recruitment at the mitotic cell cortex during anaphase (PubMed:23870127).
Involvement in disease
Elliptocytosis 1
EL1
A Rhesus-linked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated at multiple sites by different protein kinases and each phosphorylation event selectively modulates the protein's functions.
Phosphorylation on Tyr-660 reduces the ability of 4.1 to promote the assembly of the spectrin/actin/4.1 ternary complex.
O-glycosylated; contains N-acetylglucosamine side chains in the C-terminal domain.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Cytoplasm
- Cell cortex
- Nucleus
Alternative names
E41P, EPB41, Protein 4.1, P4.1, 4.1R, Band 4.1, EPB4.1, Erythrocyte membrane protein band 4.1