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Gene Review

HBE1  -  hemoglobin, epsilon 1

Homo sapiens

Synonyms: Epsilon-globin, HBE, Hemoglobin epsilon chain, Hemoglobin subunit epsilon
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Disease relevance of HBE1

  • Non-coding transcripts far upstream of the epsilon-globin gene are distinctly expressed in human primary tissues and erythroleukemia cell lines [1].
  • These cells were isolated from non-cystic fibrosis subjects and immortalized with HPV18 genes E6 and E7 (ref. 1). HBE1 cells express a homolog of canine TBM (as demonstrated by TBM expression at the transcription and translation level) [2].
  • We present here the analysis of a family with a 3,030-bp deletion of sequences upstream of the epsilon globin gene including the most 3' locus control region element and cosegregating beta(0) thalassemia [3].
  • Functional studies of embryonic epsilon-globin indicate that individuals with beta thalassemia or sickle cell disease are likely to benefit from therapeutic, transcriptional derepression of its encoding gene [4].
  • The data support the hypothesis that Hb Gower-2, assembled from reactivated epsilon globin in individuals with defined hemoglobinopathies and thalassemias, would serve as a physiologically acceptable substitute for deficient or dysfunctional Hb A [5].

High impact information on HBE1


Chemical compound and disease context of HBE1


Biological context of HBE1


Anatomical context of HBE1


Associations of HBE1 with chemical compounds

  • By comparison, hybrid haemoglobins containing either human epsilon-globin or human beta-globin exhibited nearly identical O2-binding properties, both in situ and in vitro, regardless of 2,3-BPG levels or ambient pH [20].
  • Concomitant with squamous transformation, there was an increase in SPR1 expression in HTBE, HBE1, and HBE1-C that was reversible by vitamin A. With progression of tumorigenicity, there was a marked reduction in SPR1 expression in BEAS-2B and a total loss of expression in H460 [21].
  • Intron transcripts from epsilon-globin, A gamma-globin, delta-globin, and beta-globin were complementary to the loop sequence [22].
  • F50 showed a strong dose-dependent inhibitory effect on correctly initiated epsilon-globin gene transcription directed by either unfractionated K562 NE or F175 [23].
  • A neomycin resistance gene was cotransfected into these cells, and a neomycin analogue (G418) was used to select cells containing both the neomycin resistance and epsilon-globin genes [24].

Physical interactions of HBE1


Regulatory relationships of HBE1


Other interactions of HBE1

  • One site 170 bp upstream of the major beta-globin cap site and a site 1400 bp upstream of the major epsilon-globin cap site are located near putative PolIII promoter sequences and may therefore be transcribed by this enzyme [30].
  • Here we show SATB1 family protein induction during early human adult erythroid progenitor cell differentiation concomitant with epsilon-globin expression [31].
  • Using primary passage-1 human tracheobronchial epithelial cell cultures and an immortalized human bronchial epithelial cell line, HBE1, we observed that tumor necrosis factor (TNF)-alpha enhanced NF-kappa B transcriptional activity [32].
  • ChIP analysis reveals that NF-E2 is associated with the active epsilon-globin promoter, which lacks an NF-E2 binding sequence, in a TATA box and HS2/MARE-dependent fashion [33].
  • The nucleosome at the promoter which is altered upon activation is positioned over the transcriptional elements of the epsilon-globin gene, i.e., the TATA, CCAAT, and CACCC elements, and the GATA-1 site at -165 [34].

Analytical, diagnostic and therapeutic context of HBE1


  1. Non-coding transcripts far upstream of the epsilon-globin gene are distinctly expressed in human primary tissues and erythroleukemia cell lines. Xiang, P., Fang, X., Yin, W., Barkess, G., Li, Q. Biochem. Biophys. Res. Commun. (2006) [Pubmed]
  2. Upregulation of the tracheobronchial mucin gene involves cyclic AMP response elements. Verma, M., Blass, C., Davidson, E.A. Indian J. Biochem. Biophys. (1997) [Pubmed]
  3. The proximal element of the beta globin locus control region is not functionally required in vivo. Kulozik, A.E., Bail, S., Bellan-Koch, A., Bartram, C.R., Kohne, E., Kleihauer, E. J. Clin. Invest. (1991) [Pubmed]
  4. Dynamic posttranscriptional regulation of {epsilon}-globin gene expression in vivo. He, Z., Russell, J.E. Blood (2007) [Pubmed]
  5. Expression, purification, and characterization of human hemoglobins Gower-1 (zeta(2)epsilon(2)), Gower-2 (alpha(2)epsilon(2)), and Portland-2 (zeta(2)beta(2)) assembled in complex transgenic-knockout mice. He, Z., Russell, J.E. Blood (2001) [Pubmed]
  6. Differential response of multiple epsilon-globin cap sites to cis- and trans-acting controls. Allan, M., Zhu, J.D., Montague, P., Paul, J. Cell (1984) [Pubmed]
  7. Multiple origins of transcription in the 4.5 Kb upstream of the epsilon-globin gene. Allan, M., Lanyon, W.G., Paul, J. Cell (1983) [Pubmed]
  8. 5-azacytidine selectively increases gamma-globin synthesis in a patient with beta+ thalassemia. Ley, T.J., DeSimone, J., Anagnou, N.P., Keller, G.H., Humphries, R.K., Turner, P.H., Young, N.S., Keller, P., Nienhuis, A.W. N. Engl. J. Med. (1982) [Pubmed]
  9. Stable transfer and expression of exogenous human globin genes in human erythroleukemia (K562) cells. Young, K., Donovan-Peluso, M., Bloom, K., Allan, M., Paul, J., Bank, A. Proc. Natl. Acad. Sci. U.S.A. (1984) [Pubmed]
  10. Mechanism of action of 5,6-dichloro-1-beta-D-ribofuranosylbenzimidazole. II. A resistant human cell mutant with an altered transcriptional machinery. Mittleman, B., Zandomeni, R., Weinmann, R. J. Mol. Biol. (1983) [Pubmed]
  11. The effects of atropine on atrio-ventricular conduction in patients with Wolff-Parkinson-White syndrome. Studies with His bundle electrogram. Ito, M. Jpn. Circ. J. (1976) [Pubmed]
  12. Dinucleotide repeat polymorphisms at the P1, HBE1 and MYH7 loci. Rogaev, E.I., Keryanov, S.A., Malyako, Y.K. Hum. Mol. Genet. (1992) [Pubmed]
  13. The primary structure of the human epsilon-globin gene. Baralle, F.E., Shoulders, C.C., Proudfoot, N.J. Cell (1980) [Pubmed]
  14. Molecular cloning of human epsilon-globin gene. Proudfoot, N.J., Baralle, F.E. Proc. Natl. Acad. Sci. U.S.A. (1979) [Pubmed]
  15. Embryonic hemoglobins are expressed in definitive cells. Luo, H.Y., Liang, X.L., Frye, C., Wonio, M., Hankins, G.D., Chui, D.H., Alter, B.P. Blood (1999) [Pubmed]
  16. Epsilon globin gene transcripts originating upstream of the mRNA cap site in K562 cells and normal human embryos. Alan, M., Grindlay, G.J., Stefani, L., Paul, J. Nucleic Acids Res. (1982) [Pubmed]
  17. Characterization of human mucin 5B gene expression in airway epithelium and the genomic clone of the amino-terminal and 5'-flanking region. Chen, Y., Zhao, Y.H., Di, Y.P., Wu, R. Am. J. Respir. Cell Mol. Biol. (2001) [Pubmed]
  18. Mutation screening in the human epsilon-globin gene using single-strand conformation polymorphism analysis. Papachatzopoulou, A., Menounos, P.G., Kolonelou, C., Patrinos, G.P. Am. J. Hematol. (2006) [Pubmed]
  19. Activation of cellular promoters during herpes virus infection of biochemically transformed cells. Everett, R.D. EMBO J. (1985) [Pubmed]
  20. Functional effects of replacing human alpha- and beta-globins with their embryonic globin homologues in defined haemoglobin heterotetramers. He, Z., Lian, L., Asakura, T., Russell, J.E. Br. J. Haematol. (2000) [Pubmed]
  21. Expression and regulation of a molecular marker, SPR1, in multistep bronchial carcinogenesis. Lau, D., Xue, L., Hu, R., Liaw, T., Wu, R., Reddy, S. Am. J. Respir. Cell Mol. Biol. (2000) [Pubmed]
  22. Secondary structure and intron-promoter homology in globin-switching. Lavett, D.K. Am. J. Hum. Genet. (1984) [Pubmed]
  23. The epsilon-globin gene silencer. Characterization by in vitro transcription. Wada-Kiyama, Y., Peters, B., Noguchi, C.T. J. Biol. Chem. (1992) [Pubmed]
  24. Abnormal globin gene structure and expression in beta-thalassemia. Bank, A., Dobkin, C., Donovan-Peluso, M., Young, K. Ann. N. Y. Acad. Sci. (1985) [Pubmed]
  25. Enhancer-dependent transcription of the epsilon-globin promoter requires promoter-bound GATA-1 and enhancer-bound AP-1/NF-E2. Gong, Q., Dean, A. Mol. Cell. Biol. (1993) [Pubmed]
  26. FKLF, a novel Krüppel-like factor that activates human embryonic and fetal beta-like globin genes. Asano, H., Li, X.S., Stamatoyannopoulos, G. Mol. Cell. Biol. (1999) [Pubmed]
  27. KLF2 is essential for primitive erythropoiesis and regulates the human and murine embryonic beta-like globin genes in vivo. Basu, P., Morris, P.E., Haar, J.L., Wani, M.A., Lingrel, J.B., Gaensler, K.M., Lloyd, J.A. Blood (2005) [Pubmed]
  28. Autonomous developmental control of human embryonic globin gene switching in transgenic mice. Raich, N., Enver, T., Nakamoto, B., Josephson, B., Papayannopoulou, T., Stamatoyannopoulos, G. Science (1990) [Pubmed]
  29. Regulation of globin gene expression in human K562 cells by recombinant activin A. Frigon, N.L., Shao, L., Young, A.L., Maderazo, L., Yu, J. Blood (1992) [Pubmed]
  30. Alternative sites of transcription initiation upstream of the canonical cap site in human gamma-globin and beta-globin genes. Grindlay, G.J., Lanyon, W.G., Allan, M., Paul, J. Nucleic Acids Res. (1984) [Pubmed]
  31. SATB1 family protein expressed during early erythroid differentiation modifies globin gene expression. Wen, J., Huang, S., Rogers, H., Dickinson, L.A., Kohwi-Shigematsu, T., Noguchi, C.T. Blood (2005) [Pubmed]
  32. Activation of nuclear factor-kappa b transcriptional activity in airway epithelial cells by thioredoxin but not by N-acetyl-cysteine and glutathione. Harper, R., Wu, K., Chang, M.M., Yoneda, K., Pan, R., Reddy, S.P., Wu, R. Am. J. Respir. Cell Mol. Biol. (2001) [Pubmed]
  33. A major role for the TATA box in recruitment of chromatin modifying complexes to a globin gene promoter. Gui, C.Y., Dean, A. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  34. Essential role of NF-E2 in remodeling of chromatin structure and transcriptional activation of the epsilon-globin gene in vivo by 5' hypersensitive site 2 of the beta-globin locus control region. Gong, Q.H., McDowell, J.C., Dean, A. Mol. Cell. Biol. (1996) [Pubmed]
  35. Development of high-density DNA microarray membrane for profiling smoke- and hydrogen peroxide-induced genes in a human bronchial epithelial cell line. Yoneda, K., Peck, K., Chang, M.M., Chmiel, K., Sher, Y.P., Chen, J., Yang, P.C., Chen, Y., Wu, R. Am. J. Respir. Crit. Care Med. (2001) [Pubmed]
  36. Developmental stage differences in chromatin subdomains of the beta-globin locus. Kim, A., Dean, A. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
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