Recombinant Human Protein 4.1 (EPB41), partial

1. 6 Single Nucleotide Polymorphisms within the EPB41 gene are significantly associated with Mandibular Prognathism (rs2762686, rs2788888, rs4654388, rs502393, rs11581096, and rs488113). The G-allele of SNP, assigned as rs4654388, showed the strongest link with an increased risk of Mandibular Prognathism in the Chinese population. PMID: 28570402
2. Using Next-Generation sequencing, we identified the causative genetic mutations in fifteen patients with clinically suspected hereditary elliptocytosis and hereditary pyropoikilocytosis and correlated the identified mutations with the clinical phenotype and ektacytometry profile. PMID: 27667160
3. Our study shows alternative polyadenylation to be an additional mechanism for the generation of 4.1 protein diversity in the already complex EPB41-related genes. Understanding the diversity of EPB41 RNA processing is essential for a full appreciation of the many 4.1 proteins expressed in normal and pathological tissues. PMID: 27981895
4. identification of EPB41 as a hepatocellular carcinoma susceptibility gene in vitro and in vivo; consistent with this notion, EPB41 expression is significantly decreased in HCC tissue specimens, especially in portal vein metastasis or intrahepatic metastasis, compared to normal tissues PMID: 27453575
5. The 4.1R, 4.1N and 4.1B are all expressed at the lateral membrane as well as cytoplasm of epithelial cells, suggesting a potentially redundant role of these proteins. PMID: 24912669
6. Calcium mediates the conformation-based 4.1R FERM domain binding to membrane proteins by calmodulin. PMID: 24081810
7. Results suggest a previously unidentified role for the scaffolding protein 4.1R in locally controlling CLASP2 behavior, CLASP2 cortical platform turnover and GSK3 activity, enabling correct MT organization and dynamics essential for cell polarity. PMID: 23943871
8. We conclude that PIP2 may play an important role as a modulator of apo-CaM binding to 4.1R(80) throughout evolution. PMID: 24607279
9. Plasmodium falciparum PF3D7_0402000 was identified as a new binding partner for the major erythrocyte cytoskeletal protein, 4.1R. PMID: 23663475
10. a novel gene region, EPB41, which may be associated with smoking cessation, along with gene regions in CNR1 that may be targeted to further elucidate the etiology of gender differences in smoking behaviors. PMID: 21808284
11. 4.1R regulates NHE1 activity through a direct protein-protein interaction that can be modulated by intracellular pH and Na(+) and Ca(2+) concentrations. PMID: 22731252
12. Further studies involving siRNA-mediated knockdowns of spectrin, adducin, or p4.1 revealed that those proteins are needed for efficient docking of enterohaemorrhagic Escherichia coli to host cells. PMID: 22197999
13. This study characterizes the mechanism by which RBFOX2 regulates protein 4.1R exon 16 splicing through the downstream intronic element UGCAUG. PMID: 22083953
14. apo-calmodulin stabilizes the 4.1R N-terminal domain through interaction with its beta-strand-rich C-lobe and provide a novel function for calmodulin, i.e. structural stabilization of 4.1R PMID: 21848512
15. Data show that protein 4.1R is necessary for the localization of IQGAP1 to the leading edge of cells migrating into a wound, whereas IQGAP1 is not required for protein 4.1R localization. PMID: 21750196
16. 4.1R plays a role in the phosphatidylserine exposure signaling pathway that is of fundamental importance in red cell turnover. PMID: 19794081
17. Proteins in the membrane skeleton protein 4.1 family are weakly expressed in non-small cell lung cancer and are related to tumor cell differentiation. PMID: 19624891
18. in addition to two known minor shortened and stable spliceoforms, a 4.1R splicing mutation activates an intronic cryptic splice site, which results in a nonsense mRNA major isoform, targeted to degradation in intact cells by Nonsense-mediated mRNA decay. PMID: 20863723
19. Four EPB41 SNPs showed allelic and genotypic associations with MP in first stage. In the second stage, the allele rs4654388 showed the strongest significant association with MP. rs4654388 G-allele was associated with a significantly increased risk of MP. PMID: 20797695
20. Data suggest that one or both of proteins 4.1 and 4.2 cause a portion of band 3 to localize near the spectrin-actin junctions and provide another point of attachment between the membrane skeleton and the lipid bilayer. PMID: 20007969
21. Reassignment of the EPB4.1 gene to 1p36 and assessment of its involvement in neuroblastomas. PMID: 11737230
22. With deletions or mutations, the ability of the 8 amino acid motif (LKKNFMES) of the spectrin-actin-binding domain of erythrocyte protein 4.1 recombinant peptides to form ternary complexes with spectrin and actin is remarkably diminished. PMID: 12044158
23. falcipain-2-mediated cleavage of protein 4.1 occurs immediately after lysine 437, which lies within a region of the spectrin-actin-binding domain critical for erythrocyte membrane stability. PMID: 12130521
24. A splicing alteration of pre-mRNA generates 2 protein isoforms with distinct assembly to spindle poles in mitotic cells PMID: 12239178
25. A 4.1R isoform expressing the leucine-rich sequence binds to the export receptor CRM1 in a RanGTP-dependent fashion, whereas this does not occur in a mutant whose two conserved hydrophobic residues are substituted PMID: 12427749
26. synthesis of structurally distinct 4.1R protein isoforms in various cell types is regulated by a novel mechanism requiring coordination between upstream transcription initiation events and downstream alternative splicing events PMID: 12522012
27. A novel member of the protein 4.1 family was cloned; it has focal expression in the ovary. PMID: 12601556
28. protein 4.1R has a role in recruiting hDlg to the lateral membrane in epithelial cells PMID: 12807908
29. Protein 4.1R functions as an important tumor suppressor in the molecular pathogenesis of meningioma PMID: 12901833
30. interaction with nuclear actin during nuclear assembly in vitro PMID: 12960380
31. alpha-spectrin ubiquitination at repeats 20 and 21 increases the dissociation of the spectrin-protein-4.1-actin ternary complex thereby regulating protein 4.1's ability to stimulate the spectrin-actin interaction PMID: 15040429
32. 135-kDa non-erythroid 4.1R has a role in cell division PMID: 15184364
33. protein 4.1R mitotic regulation involves phosphorylation by cdc2 kinase PMID: 15525677
34. 4.1R plays a key role at the centrosome, contributing to the maintenance of a radial microtubule organization PMID: 15564380
35. protein 4.1 phosphorylation modulates erythrocyte membrane mechanical function PMID: 15611095
36. Alternative splicing isoforms are present in muscular dystsrophy skeletal muscle. PMID: 15714879
37. 4.1R loss of expression was statistically more common in ependymomas. PMID: 15731777
38. We speculate that over the repetitive cycles of heart muscle contraction and relaxation, 4.1s are likely to locate, support, and coordinate functioning of key membrane-bound macromolecular assemblies. PMID: 15834631
39. 4.1R binds to the separate calponin homology CH1 and CH2 domains of beta I spectrin. PMID: 16060676
40. EPB41 gene expression was unchanged in all analyzed meningiomas. This suggests that involvement of the EPB41 gene (4.1R protein) in meningioma pathogenesis should be reconsidered. PMID: 16157202
41. interaction of protein 4.1 with TRPC4 is required for activation of the endothelial ISOC channel. PMID: 16254212
42. protein 4.1R interactions with membrane proteins are regulated by Ca2+ and calmodulin [review] PMID: 16368534
43. Fox-1 and Fox-2 splicing factors have roles in alternative splicing of protein 4.1R PMID: 16537540
44. 4.1R60 isoforms are constitutively self-associated, whereas 4.1R80 and 4.1R135 self-association is prevented by intramolecular interactions. PMID: 16881872
45. The interaction of Plasmodium falciparum EBA-181 with the highly conserved 10 kDa domain of 4.1R provides new insight into the molecular mechanisms utilized by P. falciparum during erythrocyte entry PMID: 17087826
46. A decreased expression pattern of the 4.1R protein was observed in the erythrocytes from patients with atypical NA. PMID: 17298666
47. A regulated splicing event in protein 4.1R pre-mRNA-the inclusion of exon 16-encoding peptides for spectrin-actin binding-occurs in late erythroid differentiation PMID: 17715393
48. A deficit in protein 4.1R is recurrent in myeloid malignancies and should be particularly investigated when deletion del (20 q) is present, since this chromosomal abnormality was present in four out of six patients. PMID: 17994571
49. In the 4.1R gene, intrasplicing ultimately determines N-terminal protein structure and function. PMID: 18079699
50. 4.1R makes crucial contributions to the structural integrity of centrosomes & mitotic spindles which normally enable mitosis and anaphase to proceed with coordinated precision. PMID: 18212055

Show More

Hide All

HGNC: 3377

OMIM: 130500

KEGG: hsa:2035

STRING: 9606.ENSP00000345259

UniGene: Hs.175437