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HS-E1 beta-globin hypersensitive site-embryonic 1 [ Homo sapiens (human) ]

Gene ID: 110740339, updated on 17-Sep-2024

Summary

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Gene symbol
HS-E1
Gene description
beta-globin hypersensitive site-embryonic 1
Gene type
biological region
Feature type(s)
misc_feature: conserved_region
regulatory: DNase_I_hypersensitive_site
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic region represents a DNase I hypersensitive site that is located in the embryonic gene region of the beta-globin gene cluster, between the epsilon (HBE1) and G-gamma (HBG2) genes. The orthologous hypersensitive site in mouse functions as an embryonic stage-specific enhancer in erythroid cells, and is necessary for active histone acetylation patterns in the embryonic domain. [provided by RefSeq, Jul 2017]
Orthologs
mouse all
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Genomic context

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See HS-E1 in Genome Data Viewer
Location:
11p15.4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (5266773..5267519)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (5326129..5326875)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (5288003..5288749)

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 locus control region Neighboring gene hemoglobin subunit epsilon 1 Neighboring gene olfactory receptor family 51 subfamily AB member 1 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Recruitment of transcription complexes to enhancers and the role of enhancer transcription. Stees JS, et al. Biology (Basel), 2012 Dec 5. PMID 23919179, Free PMC Article
  2. An embryonic stage-specific enhancer within the murine β-globin locus mediates domain-wide histone hyperacetylation. Fromm G, et al. Blood, 2011 May 12. PMID 21321362, Free PMC Article
  3. The chromatin "landscape" of a murine adult β-globin gene is unaffected by deletion of either the gene promoter or a downstream enhancer. Cadiz-Rivera B, et al. PLoS One, 2014. PMID 24817273, Free PMC Article
  4. Epigenetic interplay at the β-globin locus. Lee WS, et al. Biochim Biophys Acta Gene Regul Mech, 2017 Apr. PMID 28161275

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

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Homology

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_055459.1 

    Range
    101..847
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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
    5266773..5267519
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    5326129..5326875
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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