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HBE1 hemoglobin subunit epsilon 1 [ Homo sapiens (human) ]

Gene ID: 3046, updated on 7-Apr-2024

Summary

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Official Symbol
HBE1provided by HGNC
Official Full Name
hemoglobin subunit epsilon 1provided by HGNC
Primary source
HGNC:HGNC:4830
See related
Ensembl:ENSG00000213931 MIM:142100; AllianceGenome:HGNC:4830
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HBE
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, Jul 2008]
Orthologs
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Genomic context

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Location:
11p15.4
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (5268345..5269945, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (5327706..5329310, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (5289575..5291175, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene A-gamma-globin 3' regulatory region Neighboring gene HBG1 recombination region Neighboring gene HBG2 recombination region Neighboring gene hemoglobin subunit gamma 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:5278491-5279106 Neighboring gene hemoglobin subunit gamma 2 Neighboring gene beta-globin hypersensitive site-embryonic 1 Neighboring gene beta-globin locus control region Neighboring gene olfactory receptor family 51 subfamily AB member 1 pseudogene Neighboring gene olfactory receptor family 51 subfamily B member 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. MicroRNA expression patterns in HbE/β-thalassemia patients: The passwords to unlock fetal hemoglobin expression in β-hemoglobinopathies. Das SS, et al. Blood Cells Mol Dis, 2021 Mar. PMID 33242839
  2. Epsilon globin gene expression in developing human fetal tissues. McConaghy S, et al. J Neonatal Perinatal Med, 2016. PMID 27002261
  3. Analysis of the Xmn1-(G) γ polymorphism in β-thalassemia/hemoglobin E (HbE) and homozygous HbE patients with low and high levels of HbF. Prasing W, et al. Int J Lab Hematol, 2015 Apr. PMID 25043956
  4. Differential plasma proteome profiles of mild versus severe β-thalassemia/Hb E. Hatairaktham S, et al. Ann Hematol, 2013 Mar. PMID 23161390
  5. A transgenic mouse model expressing exclusively human hemoglobin E: indications of a mild oxidative stress. Chen Q, et al. Blood Cells Mol Dis, 2012 Feb 15. PMID 22260787, Free PMC Article

See all (105) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Molecular Characterization of Haemoglobin E.
    Title: Molecular Characterization of Haemoglobin E.
  2. Phenotypic Expression of Known and Novel Hemoglobin A2-Variants, Hemoglobin A2-Mae Phrik [Delta 52(D3) Asp > Gly, HBD:c.158A > G], Associated with Hemoglobin E [Beta 26(B8) Glu > Lys, HBB:c.79G > A] in Thailand.
    Title: Phenotypic Expression of Known and Novel Hemoglobin A2-Variants, Hemoglobin A2-Mae Phrik [Delta 52(D3) Asp > Gly, HBD:c.158A > G], Associated with Hemoglobin E [Beta 26(B8) Glu > Lys, HBB:c.79G > A] in Thailand.
  3. MicroRNA expression patterns in HbE/beta-thalassemia patients: The passwords to unlock fetal hemoglobin expression in beta-hemoglobinopathies.
    Title: MicroRNA expression patterns in HbE/β-thalassemia patients: The passwords to unlock fetal hemoglobin expression in β-hemoglobinopathies.
  4. Using microarray analysis to identify genes and pathways that regulate fetal hemoglobin levels.
    Title: Using microarray analysis to identify genes and pathways that regulate fetal hemoglobin levels.
  5. epsilon-globin expression is regulated by SUV4-20h1.
    Title: ε-globin expression is regulated by SUV4-20h1.
  6. These data indicate that HP1-gamma is a novel epigenetic repressor of epsilon-globin gene expression.
    Title: Heterochromatin Protein 1γ Is a Novel Epigenetic Repressor of Human Embryonic ϵ-Globin Gene Expression.
  7. Fetal varepsilon-globin gene expression is significantly greater than adult expression and is increased in maternal plasma compared to non-pregnant samples.
    Title: Epsilon globin gene expression in developing human fetal tissues.
  8. 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
    Title: Analysis of the Xmn1-(G) γ polymorphism in β-thalassemia/hemoglobin E (HbE) and homozygous HbE patients with low and high levels of HbF.
  9. 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.
    Title: Transcriptional regulators Myb and BCL11A interplay with DNA methyltransferase 1 in developmental silencing of embryonic and fetal β-like globin genes.
  10. 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.
    Title: Transcriptional environment and chromatin architecture interplay dictates globin expression patterns of heterospecific hybrids derived from undifferentiated human embryonic stem cells or from their erythroid progeny.
Submit: New GeneRIF Correction See all GeneRIFs (33)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.
EBI GWAS Catalog
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to haptoglobin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables heme binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables hemoglobin alpha binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables organic acid binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables oxygen binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables oxygen carrier activity IBA
Inferred from Biological aspect of Ancestor
more info
  
contributes_to peroxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in carbon dioxide transport NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in cellular oxidant detoxification IEA
Inferred from Electronic Annotation
more info
  
involved_in hydrogen peroxide catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in oxygen transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to organic cyclic compound IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in blood microparticle HDA PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
part_of haptoglobin-hemoglobin complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of hemoglobin complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of hemoglobin complex IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
hemoglobin subunit epsilon
Names
epsilon globin
hemoglobin epsilon chain
hemoglobin, epsilon 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_000007.3 RefSeqGene

    Range
    27671..29271
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005330.4 → NP_005321.1  hemoglobin subunit epsilon

    See identical proteins and their annotated locations for NP_005321.1

    Status: REVIEWED

    Source sequence(s)
    AC104389
    Consensus CDS
    CCDS7756.1
    UniProtKB/Swiss-Prot
    P02100, Q6FH44
    UniProtKB/TrEMBL
    D9YZU7
    Related
    ENSP00000380104.2, ENST00000396895.3
    Conserved Domains (1) summary
    cd08925
    Location:8 → 146
    Hb-beta-like; Hemoglobin beta, gamma, delta, epsilon, and related Hb subunits

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    5268345..5269945 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    5327706..5329310 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P02100.2 GenPept UniProtKB/Swiss-Prot:P02100

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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