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HBB-HS-111 beta-globin hypersensitive site -111 [ Homo sapiens (human) ]

Gene ID: 106010958, updated on 13-Mar-2024

Summary

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Gene symbol
HBB-HS-111
Gene description
beta-globin hypersensitive site -111
Gene type
biological region
Feature type(s)
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
Also known as
HS-110; HS-111
Summary
This element represents a DNase I hypersensitive site located approximately 111 kb upstream of the HBE1 (hemoglobin, epsilon 1) gene in the beta-globin gene cluster. Chromosome conformation capture assays show that the orthologous mouse hypersensitive site is an integral part of the beta-globin active chromatin hub in erythroid cells, where it undergoes looping interactions with 3'HS1, which is located downstream of the beta-globin gene cluster, and this folding further enables interactions between the beta-globin locus control region (LCR) and active beta-globin gene promoters. [provided by RefSeq, Nov 2015]
Orthologs
mouse all
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Genomic context

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Location:
11p15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (5380540..5381020)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (5439810..5440290)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (5401770..5402250)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 51 subfamily B member 5 Neighboring gene amphiphysin pseudogene Neighboring gene TMEM258 pseudogene 1 Neighboring gene beta-globin hypersensitive site -107 Neighboring gene olfactory receptor family 51 subfamily M member 1 Neighboring gene olfactory receptor family 51 subfamily J member 1

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. Molecular analysis of gamma-globin promoters, HS-111 and 3'HS1, in beta-thalassemia intermedia patients associated with high levels of Hb F. Hamid M, et al. Hemoglobin, 2009. PMID 19958188
  2. Increased gamma-globin gene expression in beta-thalassemia intermedia patients correlates with a mutation in 3'HS1. Papachatzopoulou A, et al. Am J Hematol, 2007 Nov. PMID 17654503
  3. Distinctive signatures of histone methylation in transcribed coding and noncoding human beta-globin sequences. Kim A, et al. Mol Cell Biol, 2007 Feb. PMID 17158930, Free PMC Article
  4. β-Globin cis-elements determine differential nuclear targeting through epigenetic modifications. Bian Q, et al. J Cell Biol, 2013 Dec 9. PMID 24297746, Free PMC Article
  5. The beta-globin nuclear compartment in development and erythroid differentiation. Palstra RJ, et al. Nat Genet, 2003 Oct. PMID 14517543

See all (21) citations in PubMed

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_042214.1 

    Range
    101..581
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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
    5380540..5381020
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    5439810..5440290
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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