Description: Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41), transcript variant 1, mRNA. RefSeq Summary (NM_001166005): 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]. Transcript (Including UTRs) Position: hg19 chr1:29,213,603-29,446,558 Size: 232,956 Total Exon Count: 21 Strand: + Coding Region Position: hg19 chr1:29,313,950-29,442,309 Size: 128,360 Coding Exon Count: 19
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.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): EPB41 CDC HuGE Published Literature: EPB41 Positive Disease Associations: Sleep Related Studies:
Sleep Daniel J Gottlieb et al. BMC medical genetics 2007, Genome-wide association of sleep and circadian phenotypes., BMC medical genetics.
[PubMed 17903308]
This analysis confirms prior reports of significant heritability of sleepiness, usual bedtime, and usual sleep duration. Several genetic loci with suggestive linkage to these traits are identified, including linkage peaks containing circadian clock-related genes. Association tests identify NPSR1 and PDE4D as possible mediators of bedtime and sleepiness.
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
