LOC110008579 hereditary persistence of fetal hemoglobin-3 3' breakpoint enhancer [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC110008579
Gene description: hereditary persistence of fetal hemoglobin-3 3' breakpoint enhancer
Gene type: biological region
Feature type(s): mobile_element
regulatory: enhancer
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This locus represents an enhancer that is present downstream of the beta-globin gene cluster on chromosome 11 (with respect to the direction of beta-globin gene transcription). It is immediately downstream of the 3' breakpoint of a deletion found in patients with hereditary persistence of fetal hemoglobin-3 (HPFH-3), and is also close to the 3' breakpoint of the HPFH-4 deletion, where both deletions remove the adult beta-globin genes (HBD and HBB) and a 3' DNase I hypersensitive site 1 (3'HS1). In these deletions, it is thought that the juxtaposition of this enhancer next to the fetal gamma-globin genes (HBG1 and HBG2) is responsible for the persistent expression of the fetal globin genes in adult blood. Experiments in transfected cells and transgenic mice show that this enhancer can activate gamma-globin gene expression, but not when 3'HS1, which contains enhancer-blocking activity, is present between this enhancer and the gamma-globin promoter. This enhancer also corresponds to a retroviral LTR element, and it is similar to the ERV-9 retroviral enhancer found at the 5' end of the beta-globin locus, just upstream of 5'HS5 in the locus control region. [provided by RefSeq, Apr 2017]
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 11p15.4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (5193634..5194446)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (5252967..5253796)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (5214864..5215676)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

Go to the top of the page Help

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.