GeneID: 461


Common Name: OR52A1 Type: Gene
Chromosome: 11 (NC_000011.10) Locus: NG_027733.1 (OR52A1)
HUGO Symbol: OR52A1 Full Name: olfactory receptor family 52 subfamily A member 1
Exons: 2 Introns: 1

The OR52A1 gene encodes an olfactory receptor (OR) protein that belongs to a large family of G-protein-coupled receptors (GPCR). The β-globin gene locus is surrounded by a large cluster of OR genes. The OR52A1 region is traversed by an HPFH enhancer, which also contains a GATA1 binding site. This enhancer plays a key role in the regulation of γ-globin (HBG1/HBG2) genes, and its function is modulated by the chromatin landscape of the β-globin gene locus. Critical players in this process are the CTCF binding sites (CBS) at the 3’ HS1 and HS5, located at the borders of the β-globin gene locus. For instance, CBS-3’HS1 limits HPFH enhancer access to HBG1/HBG2 genes by forming a sub-TAD with HS5. The deletion of CBS-3’HS1 relieves the 3′HS1–HS5 loop, allowing HPFH enhancer to access HBG1/HBG2 genes and induce γ-globin activation. On the other hand, the inversion of CBS-3’HS1 can drive the formation of chromosomal loops between the convergent CBSs, which may lead to stronger insulation of the enhancer element. It is speculated that large deletions that disrupt CBS-3’HS1 and reduce enhancer-promoter distance simultaneously could be a potential therapeutic approach to activate the γ-globin expression in haemoglobinopathies.

Synonyms: HPFH1OR


Sequence Viewer

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Publications / Origin

  1. Himadewi P, Wang XQD, Feng F, Gore H, Liu Y, Yu L, Kurita R, Nakamura Y, Pfeifer GP, Liu J, Zhang X, 3'HS1 CTCF binding site in human β-globin locus regulates fetal hemoglobin expression., Elife, 10(0), , 2021 PubMed
Created on 2021-11-03 13:40:34, Last reviewed on (Show full history)

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