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

    Gene ID: 3046, updated on 2-Nov-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
    mouse all
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    Genomic context

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    See HBE1 in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (5268345..5269945, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (5327706..5329310, complement)
    RS_2024_09 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 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. Epsilon globin gene expression in developing human fetal tissues. McConaghy S, et al. J Neonatal Perinatal Med, 2016. PMID 27002261
    2. 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
    3. Interaction of hemoglobin E with other abnormal hemoglobins. Edison ES, et al. Acta Haematol, 2011. PMID 21986214
    4. Molecular Characterization of Haemoglobin E. Ejaz S, et al. J Pak Med Assoc, 2023 Dec. PMID 38083912
    5. Differential plasma proteome profiles of mild versus severe β-thalassemia/Hb E. Hatairaktham S, et al. Ann Hematol, 2013 Mar. PMID 23161390

    See all (108) 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_2024_08

    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.

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