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HBB-3'HS1 beta-globin 3' hypersensitive site 1 [ Homo sapiens (human) ]

Gene ID: 105180392, updated on 17-Sep-2024

Summary

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Gene symbol
HBB-3'HS1
Gene description
beta-globin 3' hypersensitive site 1
Gene type
biological region
Feature type(s)
protein_bind
regulatory: DNase_I_hypersensitive_site, enhancer_blocking_element, matrix_attachment_region
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HSVI; 3'HS1
Summary
This element represents a DNase I hypersensitive site that is found approximately 20 kb downstream of the beta-globin gene cluster in erythroid cells. It has been shown to function as a scaffold attachment region, and it also has enhancer-blocking activity that is mediated by binding of the CTCF transcription factor. Chromosome conformation capture assays indicate that it is an integral part of the beta-globin active chromatin hub in erythroid cells, where it undergoes looping interactions with the beta-globin locus control region (LCR) and active beta-globin gene promoters. A mutation in this hypersensitive site may be associated with beta-thalassemia intermedia. This hypersensitive site is located in a region that is deleted in some beta-thalassemias, including several hereditary persistence of fetal hemoglobin (HPFH) deletions. [provided by RefSeq, Jul 2015]
Orthologs
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Genomic context

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See HBB-3'HS1 in Genome Data Viewer
Location:
11p15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (5203871..5207626)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (5263224..5266974)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (5225101..5228856)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 52 subfamily Z member 1 pseudogene Neighboring gene hereditary persistence of fetal hemoglobin-3 3' breakpoint enhancer Neighboring gene olfactory receptor family 51 subfamily V member 1 Neighboring gene origin of replication at HBB Neighboring gene ReSE screen-validated silencer GRCh37_chr11:5244549-5244757 Neighboring gene beta-globin gene 3' regulatory region Neighboring gene HBB recombination region Neighboring gene hemoglobin subunit beta Neighboring gene HBD recombination region Neighboring gene delta-globin 5' regulatory region Neighboring gene hemoglobin subunit delta

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. A novel deletion of approximately 27 kb including the beta-globin gene and the locus control region 3'HS-1 regulatory sequence: beta zero-thalassemia or hereditary persistence of fetal hemoglobin? Dimovski AJ, et al. Blood, 1994 Feb 1. PMID 7507736
  2. DNAase I hypersensitive site 3' to the beta-globin gene cluster containing two TAA insertions and a G-->A polymorphism is predominantly associated with the beta+-thalassemia IVS-I-6 (T-->C) mutation. Martins JT, et al. Hemoglobin, 2005. PMID 15768560
  3. Loss of Major DNase I Hypersensitive Sites in Duplicated β-globin Gene Cluster Incompletely Silences HBB Gene Expression. Reading NS, et al. Hum Mutat, 2016 Nov. PMID 27492747
  4. Translocation of an erythroid-specific hypersensitive site in deletion-type hereditary persistence of fetal hemoglobin. Elder JT, et al. Mol Cell Biol, 1990 Apr. PMID 1690839, Free PMC Article
  5. Erythroid-specific nuclease-hypersensitive sites flanking the human beta-globin domain. Dhar V, et al. Mol Cell Biol, 1990 Aug. PMID 2370867, Free PMC Article

See all (46) 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

Other Names

  • 3'HS-1 regulatory sequence
  • hypersensitive site VI

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_042165.1 

    Range
    101..3856
    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
    5203871..5207626
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    5263224..5266974
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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