erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)
Symbol
EPB41
(may also be known as: None)
Organism
Human
Description
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]
Orthologs
| Symbol | Species | |
|---|---|---|
| Epb41 | Mus musculus | |
| Epb4.1 | Rattus norvegicus |
Links to external resources
Changes associated with this gene
GO Terms
| GO ID | GO Term | GO 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 | |