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'''Hemoglobin subunit epsilon''' is a [[protein]] that in humans is encoded by the ''HBE1'' [[gene]].<ref name="pmid2649166">{{cite journal | vauthors = Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ | title = A review of the molecular genetics of the human alpha-globin gene cluster | journal = Blood | volume = 73 | issue = 5 | pages = 1081–104 |date=May 1989 | pmid = 2649166 | pmc = | doi = }}</ref> | |||
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== Function == | |||
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{{PBB_Summary | {{PBB_Summary | ||
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| summary_text = 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 | | summary_text = 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''' – [[HBG2|gamma-G]] – [[HBG1|gamma-A]] – [[HBD|delta]] – [[HBB|beta]] - 3'.<ref>{{cite web | title = Entrez Gene: HBE1 hemoglobin, epsilon 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3046| accessdate = }}</ref> | ||
}} | }} | ||
==See also== | ==See also== | ||
*[[ | *[[Hemoglobin]] | ||
*[[Human β-globin locus]] | *[[Human β-globin locus]] | ||
==References== | ==References== | ||
{{reflist | {{reflist}} | ||
==Further reading== | ==Further reading== | ||
{{refbegin | 2}} | {{refbegin | 2}} | ||
{{PBB_Further_reading | {{PBB_Further_reading | ||
| citations = | | citations = | ||
*{{cite journal | author=Clegg JB |title=Embryonic hemoglobin: sequence of the epsilon and zeta chains. |journal=Tex. Rep. Biol. Med. |volume=40 |issue= |pages= 23–8 |year= 1982 |pmid= 6172865 |doi= }} | |||
*{{cite journal | author=Clegg JB |title=Embryonic hemoglobin: sequence of the epsilon and zeta chains. |journal=Tex. Rep. Biol. Med. |volume=40 |issue= |pages= | *{{cite journal |vauthors=Giardina B, Messana I, Scatena R, Castagnola M |title=The multiple functions of hemoglobin. |journal=Crit. Rev. Biochem. Mol. Biol. |volume=30 |issue= 3 |pages= 165–96 |year= 1995 |pmid= 7555018 |doi=10.3109/10409239509085142 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Chang JC, Kan YW |title=beta 0 thalassemia, a nonsense mutation in man. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=76 |issue= 6 |pages= 2886–9 |year= 1979 |pmid= 88735 |doi=10.1073/pnas.76.6.2886 | pmc=383714 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Proudfoot NJ, Baralle FE |title=Molecular cloning of human epsilon-globin gene. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=76 |issue= 11 |pages= 5435–9 |year= 1980 |pmid= 160554 |doi=10.1073/pnas.76.11.5435 | pmc=411663 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Proudfoot NJ, Brownlee GG |title=3' non-coding region sequences in eukaryotic messenger RNA. |journal=Nature |volume=263 |issue= 5574 |pages= 211–4 |year= 1976 |pmid= 822353 |doi=10.1038/263211a0 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Marotta CA, Forget BG, Cohne-Solal M, etal |title=Human beta-globin messenger RNA. I. Nucleotide sequences derived from complementary RNA. |journal=J. Biol. Chem. |volume=252 |issue= 14 |pages= 5019–31 |year= 1977 |pmid= 873928 |doi= }} | ||
*{{cite journal | *{{cite journal |vauthors=Gelinas R, Endlich B, Pfeiffer C, etal |title=G to A substitution in the distal CCAAT box of the A gamma-globin gene in Greek hereditary persistence of fetal haemoglobin. |journal=Nature |volume=313 |issue= 6000 |pages= 323–5 |year= 1985 |pmid= 2578619 |doi=10.1038/313323a0 }} | ||
*{{cite journal | *{{cite journal |vauthors=Collins FS, Metherall JE, Yamakawa M, etal |title=A point mutation in the A gamma-globin gene promoter in Greek hereditary persistence of fetal haemoglobin. |journal=Nature |volume=313 |issue= 6000 |pages= 325–6 |year= 1985 |pmid= 2578620 |doi=10.1038/313325a0 }} | ||
*{{cite journal | *{{cite journal |vauthors=Lang KM, Spritz RA |title=Cloning specific complete polyadenylylated 3'-terminal cDNA segments. |journal=Gene |volume=33 |issue= 2 |pages= 191–6 |year= 1985 |pmid= 2581851 |doi=10.1016/0378-1119(85)90093-9 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Ley TJ, Maloney KA, Gordon JI, Schwartz AL |title=Globin gene expression in erythroid human fetal liver cells. |journal=J. Clin. Invest. |volume=83 |issue= 3 |pages= 1032–8 |year= 1989 |pmid= 2921315 |doi=10.1172/JCI113944 | pmc=303780 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Chabot B, Black DL, LeMaster DM, Steitz JA |title=The 3' splice site of pre-messenger RNA is recognized by a small nuclear ribonucleoprotein. |journal=Science |volume=230 |issue= 4732 |pages= 1344–9 |year= 1986 |pmid= 2933810 |doi=10.1126/science.2933810 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Engelke DR, Hoener PA, Collins FS |title=Direct sequencing of enzymatically amplified human genomic DNA. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=85 |issue= 2 |pages= 544–8 |year= 1988 |pmid= 3267215 |doi=10.1073/pnas.85.2.544 | pmc=279587 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Fei YJ, Stoming TA, Efremov GD, etal |title=Beta-thalassemia due to a T----A mutation within the ATA box. |journal=Biochem. Biophys. Res. Commun. |volume=153 |issue= 2 |pages= 741–7 |year= 1988 |pmid= 3382401 |doi=10.1016/S0006-291X(88)81157-4 }} | ||
*{{cite journal | *{{cite journal |vauthors=Prchal JT, Cashman DP, Kan YW |title=Hemoglobin Long Island is caused by a single mutation (adenine to cytosine) resulting in a failure to cleave amino-terminal methionine. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=83 |issue= 1 |pages= 24–7 |year= 1986 |pmid= 3455755 |doi=10.1073/pnas.83.1.24 | pmc=322783 }} | ||
*{{cite journal | | *{{cite journal |vauthors=van Santen VL, Spritz RA |title=mRNA precursor splicing in vivo: sequence requirements determined by deletion analysis of an intervening sequence. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=82 |issue= 9 |pages= 2885–9 |year= 1985 |pmid= 3857622 |doi=10.1073/pnas.82.9.2885 | pmc=397671 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Ruskin B, Greene JM, Green MR |title=Cryptic branch point activation allows accurate in vitro splicing of human beta-globin intron mutants. |journal=Cell |volume=41 |issue= 3 |pages= 833–44 |year= 1985 |pmid= 3879973 |doi=10.1016/S0092-8674(85)80064-7 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Tuan D, Solomon W, Li Q, London IM |title=The "beta-like-globin" gene domain in human erythroid cells. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=82 |issue= 19 |pages= 6384–8 |year= 1985 |pmid= 3879975 |doi=10.1073/pnas.82.19.6384 | pmc=390720 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Orkin SH, Antonarakis SE, Kazazian HH |title=Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC. |journal=J. Biol. Chem. |volume=259 |issue= 14 |pages= 8679–81 |year= 1984 |pmid= 6086605 |doi= }} | ||
*{{cite journal | | |||
}} | }} | ||
{{refend}} | {{refend}} | ||
{{Hemeproteins}} | |||
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[[Category:Hemoglobins]] | |||
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Latest revision as of 01:32, 27 October 2017
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| Location (UCSC) | n/a | n/a | |||||
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Hemoglobin subunit epsilon is a protein that in humans is encoded by the HBE1 gene.[1]
Function
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 – gamma-G – gamma-A – delta – beta - 3'.[2]
See also
References
- ↑ Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ (May 1989). "A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081–104. PMID 2649166.
- ↑ "Entrez Gene: HBE1 hemoglobin, epsilon 1".
Further reading
- Clegg JB (1982). "Embryonic hemoglobin: sequence of the epsilon and zeta chains". Tex. Rep. Biol. Med. 40: 23–8. PMID 6172865.
- Giardina B, Messana I, Scatena R, Castagnola M (1995). "The multiple functions of hemoglobin". Crit. Rev. Biochem. Mol. Biol. 30 (3): 165–96. doi:10.3109/10409239509085142. PMID 7555018.
- Chang JC, Kan YW (1979). "beta 0 thalassemia, a nonsense mutation in man". Proc. Natl. Acad. Sci. U.S.A. 76 (6): 2886–9. doi:10.1073/pnas.76.6.2886. PMC 383714. PMID 88735.
- Proudfoot NJ, Baralle FE (1980). "Molecular cloning of human epsilon-globin gene". Proc. Natl. Acad. Sci. U.S.A. 76 (11): 5435–9. doi:10.1073/pnas.76.11.5435. PMC 411663. PMID 160554.
- Proudfoot NJ, Brownlee GG (1976). "3' non-coding region sequences in eukaryotic messenger RNA". Nature. 263 (5574): 211–4. doi:10.1038/263211a0. PMID 822353.
- Marotta CA, Forget BG, Cohne-Solal M, et al. (1977). "Human beta-globin messenger RNA. I. Nucleotide sequences derived from complementary RNA". J. Biol. Chem. 252 (14): 5019–31. PMID 873928.
- Gelinas R, Endlich B, Pfeiffer C, et al. (1985). "G to A substitution in the distal CCAAT box of the A gamma-globin gene in Greek hereditary persistence of fetal haemoglobin". Nature. 313 (6000): 323–5. doi:10.1038/313323a0. PMID 2578619.
- Collins FS, Metherall JE, Yamakawa M, et al. (1985). "A point mutation in the A gamma-globin gene promoter in Greek hereditary persistence of fetal haemoglobin". Nature. 313 (6000): 325–6. doi:10.1038/313325a0. PMID 2578620.
- Lang KM, Spritz RA (1985). "Cloning specific complete polyadenylylated 3'-terminal cDNA segments". Gene. 33 (2): 191–6. doi:10.1016/0378-1119(85)90093-9. PMID 2581851.
- Ley TJ, Maloney KA, Gordon JI, Schwartz AL (1989). "Globin gene expression in erythroid human fetal liver cells". J. Clin. Invest. 83 (3): 1032–8. doi:10.1172/JCI113944. PMC 303780. PMID 2921315.
- Chabot B, Black DL, LeMaster DM, Steitz JA (1986). "The 3' splice site of pre-messenger RNA is recognized by a small nuclear ribonucleoprotein". Science. 230 (4732): 1344–9. doi:10.1126/science.2933810. PMID 2933810.
- Engelke DR, Hoener PA, Collins FS (1988). "Direct sequencing of enzymatically amplified human genomic DNA". Proc. Natl. Acad. Sci. U.S.A. 85 (2): 544–8. doi:10.1073/pnas.85.2.544. PMC 279587. PMID 3267215.
- Fei YJ, Stoming TA, Efremov GD, et al. (1988). "Beta-thalassemia due to a T----A mutation within the ATA box". Biochem. Biophys. Res. Commun. 153 (2): 741–7. doi:10.1016/S0006-291X(88)81157-4. PMID 3382401.
- Prchal JT, Cashman DP, Kan YW (1986). "Hemoglobin Long Island is caused by a single mutation (adenine to cytosine) resulting in a failure to cleave amino-terminal methionine". Proc. Natl. Acad. Sci. U.S.A. 83 (1): 24–7. doi:10.1073/pnas.83.1.24. PMC 322783. PMID 3455755.
- van Santen VL, Spritz RA (1985). "mRNA precursor splicing in vivo: sequence requirements determined by deletion analysis of an intervening sequence". Proc. Natl. Acad. Sci. U.S.A. 82 (9): 2885–9. doi:10.1073/pnas.82.9.2885. PMC 397671. PMID 3857622.
- Ruskin B, Greene JM, Green MR (1985). "Cryptic branch point activation allows accurate in vitro splicing of human beta-globin intron mutants". Cell. 41 (3): 833–44. doi:10.1016/S0092-8674(85)80064-7. PMID 3879973.
- Tuan D, Solomon W, Li Q, London IM (1985). "The "beta-like-globin" gene domain in human erythroid cells". Proc. Natl. Acad. Sci. U.S.A. 82 (19): 6384–8. doi:10.1073/pnas.82.19.6384. PMC 390720. PMID 3879975.
- Orkin SH, Antonarakis SE, Kazazian HH (1984). "Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC". J. Biol. Chem. 259 (14): 8679–81. PMID 6086605.
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