Recombinant Human Protein 4.1 (EPB41), Truncated

Uniprot Id

P11171

Target Species

Human

Target Name

EPB41

Target Full Name

Protein 4.1

Target 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.

Target Involvement

Elliptocytosis 1 (EL1)

Target Subcellular Location

Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Nucleus.

Target Synonyms

4.1R; 41_HUMAN; Band 4.1; E41P; EL 1; EL1; EL1 gene; Elliptocytosis 1; Elliptocytosis 1 RH linked; EPB 4.1; EPB 41; EPB4.1; Epb41; Erythrocyte membrane protein band 4.1 (elliptocytosis 1 RH linked); Erythrocyte membrane protein band 4.1; Erythrocyte surface protein band 4.1; HE; P4.1; Protein 4.1; Protein 4.1; red blood cell type

Target Background

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.