ID:41_HUMAN DESCRIPTION: RecName: Full=Protein 4.1; Short=P4.1; AltName: Full=4.1R; AltName: Full=Band 4.1; AltName: Full=EPB4.1; 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. SUBUNIT: Binds with a high affinity to glycophorin and with lower affinity to band III protein. Associates with the nuclear mitotic apparatus. Binds calmodulin, CENPJ and DLG1. Also found to associate with contractile apparatus and tight junctions. SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Nucleus. PTM: Phosphorylated at multiple sites by different protein kinases and each phosphorylation event selectively modulates the protein's functions. PTM: Phosphorylation on Tyr-660 reduces the ability of 4.1 to promote the assembly of the spectrin/actin/4.1 ternary complex. PTM: O-glycosylated; contains N-acetylglucosamine side chains in the C-terminal domain. DISEASE: Defects in EPB41 are the cause of elliptocytosis type 1 (EL1) [MIM:611804]. EL1 is 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. DISEASE: Defects in EPB41 are a cause of hereditary pyropoikilocytosis (HPP) [MIM:266140]. HPP is an autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells. SIMILARITY: Contains 1 FERM domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00373 - FERM central domain PF04382 - SAB domain PF05902 - 4.1 protein C-terminal domain (CTD) PF08736 - FERM adjacent (FA) PF09379 - FERM N-terminal domain PF09380 - FERM C-terminal PH-like domain
SCOP Domains: 47031 - Second domain of FERM 50729 - PH domain-like 54236 - Ubiquitin-like
ModBase Predicted Comparative 3D Structure on P11171
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
