Recombinant Human Hemoglobin subunit epsilon (HBE1)

1. epsilon-globin expression is regulated by SUV4-20h1. PMID: 26802048
2. These data indicate that HP1-gamma is a novel epigenetic repressor of epsilon-globin gene expression. PMID: 28154185
3. Fetal varepsilon-globin gene expression is significantly greater than adult expression and is increased in maternal plasma compared to non-pregnant samples. PMID: 27002261
4. findings indicate the Xmn1-Ggamma polymorphism is likely to be one factor that influences the production of HbF in beta-thalassemia/HbE patients, but not in homozygous HbE patients PMID: 25043956
5. Data indicate that Myb and BCL11A cooperate with DNMT1 to achieve developmental repression of embryonic and fetal beta-like human transgenic globin genes in the adult erythroid environment. PMID: 24371119
6. Data indicate that in embryonic stem cells (hESCs)-derived erythroblasts where both epsilon and gamma globin were active, epsilon globin was immediately silenced upon transfer, whereas gamma globin continued to be expressed for months. PMID: 23993951
7. A plasma proteome analysis is performed to identify differentially expressed proteins compared between normal subjects and patients with mild and severe forms of beta-thalassemia/hemoglobin E (Hb E). PMID: 23161390
8. In the present study, involving the characterization of mutations in transfusion-dependent thalassemia in the Gwalior-Chambal region of Central India, Hb E [beta26(B8)Glu-->Lys, GAG>AAG] was found in high frequency. PMID: 22738610
9. the observed in vivo RBC mild oxidative stress arises, at least in part, from the molecular consequences of the HbE mutation. PMID: 22260787
10. investigation of interaction of HbE w/ other abnormal hemoglobins found in India isolated by cation exchange chromatography; interactions complicate Hb isolation and thus diagnosis of hemoglobinopathies/beta-thalassemias in heterozygous patients PMID: 21986214
11. Erythroblasts from beta-thalassemia/Hb E patients only show activation of the unfolded protein response pathway in response to internal stress, whereas normal erythroblasts respond to both internal and external stress. PMID: 20015891
12. patients with hemoglobin Ebeta thalassemia have a significant decrease in the oxygen affinity of their hemoglobin, that is an increased P(50) value, in response to anemia. PMID: 20833979
13. The frequency of the Ggamma-158(C-->T) polymorphism was relatively high in Southern Chinese patients with HbE/beta-thalassemia major. PMID: 20822527
14. Crystallization and X-ray structure of this protein, isolated from blood of beta-thalassemic patients PMID: 12659864
15. HbE carrier status has been shown to confer protection against Plasmodium falciparum malaria PMID: 15114532
16. Genomic and phylogenetic footprinting at the epsilon-globin silencer region in human cells PMID: 15157738
17. The crystal structure of HbE at 1.74 angstrom resolution in R2 state is used to provide probable explanations of the thermal stability and instability of HbE. PMID: 15449937
18. Mutation screening identified no sequence variations apart from the expected 5'epsilon /HincII polymorphism, suggesting that genomic alterations in the HBE1 gene are most likely incompatible with normal erythropoiesis and proper embryonic development PMID: 16432873
19. results suggest in the context of the whole beta-globin locus, other proximal & upstream epsilon promoter elements & competition by downstream globin genes contribute to silencing of epsilon-globin in cells of definitive erythropoiesis [epsilon-globin] PMID: 16514181
20. We discussed these results in the context of intergenic transcription and chromatin opening in the beta-globin gene cluster. PMID: 16620781
21. The epsilon-globin mRNA is modestly unstable in immature, transcriptionally active erythroid cells, but that this characteristic has relatively little impact on the accumulation of epsilon-globin mRNA at subsequent stages of terminal differentiation. PMID: 17003365
22. The epsilon-globin gene differs in its distance sensitivity to the locus control region from the other beta-like globin genes, which is, at least in part, determined by the transcription factor EKLF. PMID: 17548470
23. the HbA/HbE polymorphism would not be a major genetic factor influencing the onset of cerebral malaria in Thailand. PMID: 18787944
24. The slightly increased levels of Hb A(2), 3.5% +/- 0.4%, which is shown in the carriers of Hb E, confirm that Hb E is the silent phenotype of beta(+)-thalassemia. PMID: 18940720
25. It is necessary to perform a comprehensive DNA analysis for alpha-thalassemia in cases of homozygous HbE when their partner is suspected of having alpha-thalassemia 1 gene. PMID: 19323016

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HGNC: 4830

OMIM: 142100

KEGG: hsa:3046

STRING: 9606.ENSP00000292896

UniGene: Hs.655195