GeneID: 446
Names
| Common Name: | BACH1 | Type: | Gene |
|---|---|---|---|
| Chromosome: | 21 (NC_000021.9) | Locus: | NG_029658.2 (BACH1) |
| HUGO Symbol: | BACH1 | Full Name: | BTB domain and CNC homolog 1 |
| Exons: | 5 | Introns: | 4 |
Description:
BTB and CNC homology 1 (BACH1) is a member of the Cap 'n' Collar and basic region leucine zipper family (CNC-bZip) of transcription factors, playing a crucial role in regulating reactive oxygen species (ROS) production, heme homeostasis, hematopoiesis, and immunity. It forms a heterodimer with small MAF proteins to bind MAF recognition elements (MAREs) in the promoters of target genes, suppressing their expression. This includes the suppression of heme-responsive genes like α- and β-globin under physiological conditions and oxidative stress-response genes like heme oxygenase-1 (HO-1) and NADPH quinone oxidoreductase 1 (NQO1).
The reduction of heme content in late β-thalassemia precursor cells results in an increase in BACH1 expression, likely serving as a compensatory mechanism to decrease α/β-globin chain imbalance and, consequently, the oxidative stress produced by the imbalance. BACH1 has been implicated in erythrophagocytosis and iron recycling in thalassemic macrophages. Furthermore, the suppression of BACH1 in primary sickle erythroid progenitors leads to an increase in the binding of NRF2 [GeneID: 243] to its consensus antioxidant response elements (AREs) in the promoter of the γ-globin genes, which is an established mechanism of HbF induction, showing detectable anti-sickling effects in sickle erythroid progenitors.
Synonyms: BACH-1 , BTBD24
Comments:
N/A
Number of entries/variants: 0
Publications / Origin
- Lee TY, Muniandy L, Teh LK, Abdullah M, George E, Sathar J, Lai MI, Correlation of BACH1 and Hemoglobin E/Beta-Thalassemia Globin Expression., Turk J Haematol, 33(1), 15-20, 2016
- Zakaria NA, Islam MA, Abdullah WZ, Bahar R, Mohamed Yusoff AA, Abdul Wahab R, Shamsuddin S, Johan MF, Epigenetic Insights and Potential Modifiers as Therapeutic Targets in -Thalassemia., Biomolecules, 11(5), 0, 2021
- Penglong T, Saensuwanna A, Pholngam N, Tansila N, Buncherd H, Srinoun K, BACH1 regulates erythrophagocytosis and iron-recycling in β-thalassemia., Genes Cells, 28(3), 211-225, 2023
- Palani CD, Zhu X, Alagar M, Attucks OC, Pace BS, Bach1 inhibitor HPP-D mediates γ-globin gene activation in sickle erythroid progenitors., Blood Cells Mol Dis, 104(0), 102792, 2023