EPB41

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]

Erythrocyte Membrane Protein Band 4.1

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).

Actin cytoskeleton organization Source: UniProtKB
Actomyosin structure organization Source: GO_Central
Cell cycle Source: UniProtKB-KW
Cell division Source: UniProtKB-KW
Cortical actin cytoskeleton organization Source: InterPro
Positive regulation of protein binding Source: BHF-UCL
Positive regulation of protein localization to cell cortex Source: UniProtKB
Protein-containing complex assembly Source: Ensembl
Regulation of calcium ion transport Source: UniProtKB
Regulation of cell shape Source: CAFA
Regulation of intestinal absorption Source: UniProtKB

Nucleus; Cytoskeleton; Cell cortex

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.

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.