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Homo sapiens hemoglobin, epsilon 1 (HBE1), mRNA.
| RefSeq Version | NM_005330.3, 28302129 |
| Length | 816 bp |
| Structure | linear |
| Update Date | 13-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens hemoglobin, epsilon 1 (HBE1), mRNA. |
| Product | hemoglobin subunit epsilon |
| Comment | Summary: The epsilon globin gene (HBE) is normally expressed in the embryonic yolk sac: two epsilon chains together with two zeta chains (an alpha-like globin) constitute the embryonic hemoglobin Hb Gower I; two epsilon chains together with two alpha chains form the embryonic Hb Gower II. Both of these embryonic hemoglobins are normally supplanted by fetal, and later, adult hemoglobin. The five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon - G-gamma - A-gamma - delta - beta-3' [provided by RefSeq]. |
| RefSeq | NP_005321.1 |
| CDS | 254..697 | Exon (1) | 1..345 | Exon (2) | 1..345 | Exon (3) | 346..568 | Exon (4) | 569..816 |
| Translation | MVHFTAEEKAAVTSLWSKMNVEEAGGEALGRLLVVYPWTQRFFDSFGNLSSPSAILGNPK
VKAHGKKVLTSFGDAIKNMDNLKPAFAKLSELHCDKLHVDPENFKLLGNVMVIILATHFG
KEFTPEVQAAWQKLVSAVAIALAHKYH
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| Position | Chain | Variation | Link |
| complement(4) | - | t, g | dbSNP:78284708 |
| complement(16..17) | - | , a | dbSNP:35721376 |
| complement(105..106) | - | , c | dbSNP:34111960 |
| 160 | + | a, g | dbSNP:113168696 |
| complement(161..162) | - | , g | dbSNP:34294793 |
| 198 | + | c, t | dbSNP:112330205 |
| 286 | + | c, t | dbSNP:111330211 |
| complement(445) | - | , a | dbSNP:35998629 |
| complement(479) | - | t, c | dbSNP:79612490 |
| complement(539) | - | t, c | dbSNP:74639984 |
| 719 | + | c, g | dbSNP:2213165 |
| complement(726) | - | g, a | dbSNP:59733060 |
| 814 | + | a, g | dbSNP:112211293 |
| 815 | + | a, t | dbSNP:113675618 |
| Title | Adaptation to anemia in hemoglobin E-ss thalassemia . |
| Author | Allen,A., Fisher,C., Premawardhena,A., Peto,T., Allen,S., Arambepola,M., Thayalsutha,V., Olivieri,N. and Weatherall,D. |
| Journal | Blood 116 (24), 5368-5370 (2010) |
| Title | A large-scale candidate gene association study of age at menarche and age at natural menopause . |
| Author | He,C., Kraft,P., Chasman,D.I., Buring,J.E., Chen,C., Hankinson,S.E., Pare,G., Chanock,S., Ridker,P.M. and Hunter,D.J. |
| Journal | Hum. Genet. 128 (5), 515-527 (2010) |
| Title | Analysis of Ggamma-158(C-->T) polymorphism in hemoglobin E/beta-thalassemia major in Southern China . |
| Author | Liu,R.R., Wang,M.Y. and Lai,Y.R. |
| Journal | J Hematol Oncol 3, 29 (2010) |
| Title | Clinical and hematological phenotype of homozygous hemoglobin E: revisit of a benign condition with hidden reproductive risk . |
| Author | Tachavanich,K., Viprakasit,V., Chinchang,W., Glomglao,W., Pung-Amritt,P. and Tanphaichitr,V.S. |
| Journal | Southeast Asian J. Trop. Med. Public Health 40 (2), 306-316 (2009) |
| Title | Rapid diagnosis of thalassemias and other hemoglobinopathies by capillary electrophoresis system . |
| Author | Winichagoon,P., Svasti,S., Munkongdee,T., Chaiya,W., Boonmongkol,P., Chantrakul,N. and Fucharoen,S. |
| Journal | Transl Res 152 (4), 178-184 (2008) |
| Title | A review of the molecular genetics of the human alpha-globin gene cluster . |
| Author | Higgs,D.R., Vickers,M.A., Wilkie,A.O., Pretorius,I.M., Jarman,A.P. and Weatherall,D.J. |
| Journal | Blood 73 (5), 1081-1104 (1989) |
| Title | Globin gene expression in erythroid human fetal liver cells . |
| Author | Ley,T.J., Maloney,K.A., Gordon,J.I. and Schwartz,A.L. |
| Journal | J. Clin. Invest. 83 (3), 1032-1038 (1989) |
| Title | The 3' splice site of pre-messenger RNA is recognized by a small nuclear ribonucleoprotein . |
| Author | Chabot,B., Black,D.L., LeMaster,D.M. and Steitz,J.A. |
| Journal | Science 230 (4732), 1344-1349 (1985) |
| Title | Molecular cloning of human epsilon-globin gene . |
| Author | Proudfoot,N.J. and Baralle,F.E. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 76 (11), 5435-5439 (1979) |
| Title | Human beta-globin messenger RNA. I. Nucleotide sequences derived from complementary RNA . |
| Author | Marotta,C.A., Forget,B.G., Cohne-Solal,M., Wilson,J.T. and Weissman,S.M. |
| Journal | J. Biol. Chem. 252 (14), 5019-5031 (1977) |
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