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

    Gene ID: 3046, updated on 2-Oct-2018

    Summary

    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; Vega:OTTHUMG00000066675
    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

    Genomic context

    See HBE1 in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (5268350..5270143, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (5289580..5291373, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene HBG2 recombination region 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

    Expression

    • 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

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

    Pathways from BioSystems

    • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
      Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to haptoglobin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    heme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    hemoglobin alpha binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    organic acid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    oxygen binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    oxygen carrier activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to peroxidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    cellular oxidant detoxification IEA
    Inferred from Electronic Annotation
    more info
     
    hydrogen peroxide catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    oxygen transport IEA
    Inferred from Electronic Annotation
    more info
     
    protein heterooligomerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    blood microparticle HDA PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    haptoglobin-hemoglobin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    hemoglobin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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
      27473..29266
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005330.3NP_005321.1  hemoglobin subunit epsilon

      See identical proteins and their annotated locations for NP_005321.1

      Status: REVIEWED

      Source sequence(s)
      U01317
      Consensus CDS
      CCDS7756.1
      UniProtKB/Swiss-Prot
      P02100
      UniProtKB/TrEMBL
      D9YZU7
      Related
      ENSP00000380104.2, ENST00000396895.2
      Conserved Domains (1) summary
      cd08925
      Location:7146
      Hb-beta_like; Hemoglobin beta, gamma, delta, epsilon, and related Hb subunits

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

      Range
      5268350..5270143 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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