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]

Description

Erythrocyte membrane protein band 4.1

Tissue specificity

Tissue enhanced (retina)

Subcell location

Nuclear bodies, Plasma membrane, Cell Junctions, Cytokinetic bridge, Mitotic spindle, Cytosol

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

1:p35.3 (28887091 - 29120046)

Ensembl ID

ENSG00000159023  (ver. 103.38)

Orthologs

Mouse Epb41: ENSMUSG00000028906

UniProt

P11171

neXtProt

NX_P11171

Human splice variants
Mouse splice variants