LOC110006319 beta-globin gene 3' regulatory region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC110006319
Gene description: beta-globin gene 3' regulatory region
Gene type: biological region
Feature type(s): protein_bind
regulatory: DNase_I_hypersensitive_site, enhancer, transcriptional_cis_regulatory_region
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This genomic location represents the 3' regulatory region of the hemoglobin subunit beta (HBB) gene, which is also referred to as the adult beta-globin gene within the beta-globin gene cluster on chromosome 11. This region includes two enhancer elements, one within the 3' coding region of the gene and the other located approximately 0.5 kb downstream of the poly(A) site. Both of those elements may be required for correct developmental expression of the beta-globin genes, in addition to the locus control region (LCR) at the 5' end of the beta-globin gene cluster. Both elements coincide with DNase I hypersensitive sites (HSs) in erythroid cells. A scaffold or matrix attachment region overlaps the element located within the gene, while the 3' enhancer region can bind erythroid transcription factors and may also be required for regulation of replication initiation at the replication origin (IR) in the vicinity of the HBB gene. In addition, a region overlapping the enhancer within intron 2 of the HBB gene produces a polypyrimidine RNA that forms a DNA-RNA triple helix with 5'HS2 of the LCR, where triplex formation attenuates binding of transcription factors and RNA polymerase II to the LCR, resulting in reduced expression of the beta-globin genes. This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA) in GM12878 lymphoblastoid cells. This locus is deleted in some beta-hemoglobinopathies with adult beta-globin expression defects, including some hereditary persistence of fetal hemoglobin (HPFH) deletions. [provided by RefSeq, May 2023]
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Genomic context

Location:: 11p15.4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (5223780..5226590)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (5283148..5285958)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (5245010..5247820)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

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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

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General gene information

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Other Names

ATAC-STARR-seq lymphoblastoid active region 4325
HBB 3' enhancer
adult beta-globin 3' enhancer

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.