Human Gene EPB41 (uc009vtl.2) Description and Page Index
Description: Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41), transcript variant 5, mRNA. RefSeq Summary (NM_001166006): 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 chr1:29,313,960-29,446,558 Size: 132,599 Total Exon Count: 16 Strand: + Coding Region Position: hg19 chr1:29,320,001-29,442,309 Size: 122,309 Coding Exon Count: 14
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.
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 Q29RX4
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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.