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

Gene ID: 3046, updated on 24-Nov-2020

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
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
109.20201120 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (5268345..5269945, 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.
GeneReviews: Not available
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
GeneReviews: Not available

Pathways from PubChem

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 IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
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
 
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
    27671..29271
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005330.4NP_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
    UniProtKB/TrEMBL
    D9YZU7
    Related
    ENSP00000380104.2, ENST00000396895.3
    Conserved Domains (1) summary
    cd08925
    Location:8146
    Hb-beta-like; Hemoglobin beta, gamma, delta, epsilon, and related Hb subunits

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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