erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)


EPB41 (may also be known as: None)




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]


Epb41 Mus musculus
Epb4.1 Rattus norvegicus

Links to external resources

Changes associated with this gene

GO Terms

GO IDGO TermGO Category
GO:0008015 blood circulation biological_process
GO:0030036 actin cytoskeleton organization biological_process
GO:0030866 cortical actin cytoskeleton organization biological_process
GO:0032092 positive regulation of protein binding biological_process
GO:0005634 nucleus cellular_component
GO:0005737 cytoplasm cellular_component
GO:0005794 Golgi apparatus cellular_component
GO:0005856 cytoskeleton cellular_component
GO:0005886 plasma membrane cellular_component
GO:0005938 cell cortex cellular_component
GO:0008091 spectrin cellular_component
GO:0014731 spectrin-associated cytoskeleton cellular_component
GO:0019898 extrinsic to membrane cellular_component
GO:0030863 cortical cytoskeleton cellular_component
GO:0043231 intracellular membrane-bounded organelle cellular_component
GO:0043234 protein complex cellular_component
GO:0003779 actin binding molecular_function
GO:0005198 structural molecule activity molecular_function
GO:0005200 structural constituent of cytoskeleton molecular_function
GO:0005488 binding molecular_function
GO:0005515 protein binding molecular_function
GO:0005516 calmodulin binding molecular_function
GO:0005545 1-phosphatidylinositol binding molecular_function
GO:0008092 cytoskeletal protein binding molecular_function
GO:0030507 spectrin binding molecular_function