HBE1

HBE1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1A9W
Identifiers
Aliases	HBE1, HBE, hemoglobin subunit epsilon 1
External IDs	OMIM: 142100; MGI: 96024; HomoloGene: 110794; GeneCards: HBE1; OMA:HBE1 - orthologs
Gene location (Human)
Chr.	Chromosome 11 (human)
End	5,505,652 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	103,492,371 bp
RNA expression pattern
	Top expressed in
	testicle; ; gonad; ; ganglionic eminence; ; blood; ; monocyte; ; stromal cell of endometrium; ; apex of heart; ; ventricular zone; ; gastrocnemius muscle; ; anterior cingulate cortex;
	Top expressed in
	abdominal wall; ; yolk sac; ; somite; ; endocardial cushion; ; internal carotid artery; ; maxillary prominence; ; external carotid artery; ; hand; ; mandibular prominence; ; tail of embryo;
	More reference expression data
	n/a
Gene ontology
Molecular function	hemoglobin alpha binding; metal ion binding; heme binding; iron ion binding; oxygen binding; oxygen carrier activity; protein binding; peroxidase activity; haptoglobin binding; organic acid binding;
Cellular component	cytosol; blood microparticle; hemoglobin complex; haptoglobin-hemoglobin complex;
Biological process	protein heterooligomerization; blood coagulation; oxygen transport; response to organic cyclic compound; transport; hydrogen peroxide catabolic process; cellular oxidant detoxification;
	Sources:Amigo / QuickGO
Orthologs
	3046
	15132
	ENSG00000213931
	ENSMUSG00000052217
	P02100
	P04444
	NM_005330
	NM_008219
	NP_005321; NP_005321.1
	NP_032245
	Wikidata
View/Edit Human	View/Edit Mouse

Hemoglobin subunit epsilon is a protein that in humans is encoded by the HBE1 gene.^[5]

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'.^[6]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000213931 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000052217 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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. doi:10.1182/blood.V73.5.1081.1081. PMID 2649166.
^ "Entrez Gene: HBE1 hemoglobin, epsilon 1".

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. Bibcode:1979PNAS...76.2886C. 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. Bibcode:1976Natur.263..211P. doi:10.1038/263211a0. PMID 822353. S2CID 4211839.
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. doi:10.1016/S0021-9258(17)40154-2. 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. Bibcode:1985Natur.313..323G. doi:10.1038/313323a0. PMID 2578619. S2CID 4353948.
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. Bibcode:1985Natur.313..325C. doi:10.1038/313325a0. PMID 2578620. S2CID 4315881.
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. Bibcode:1988PNAS...85..544E. 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. Bibcode:1986PNAS...83...24P. 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. Bibcode:1985PNAS...82.2885V. 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. S2CID 41979452.
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. Bibcode:1985PNAS...82.6384T. 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. doi:10.1016/S0021-9258(17)47203-6. PMID 6086605.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000213931 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000052217 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid2649166-5] 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. doi:10.1182/blood.V73.5.1081.1081. PMID 2649166.

[6] "Entrez Gene: HBE1 hemoglobin, epsilon 1".

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[2]

[3]

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[5]

[6]

HBE1

Function

See also

References

Further reading

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