GeneID: 40
Names
Common Name: | GATA1 | Type: | Gene |
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Chromosome: | X (NC_000023.11) | Locus: | NG_008846.2 (GATA1) |
HUGO Symbol: | GATA1 | Full Name: | GATA binding protein 1 |
Exons: | 6 | Introns: | 5 |
Description:
The gene is a member to the GATA family of zinc-finger proteins that bind to the DNA sequence (T/A)GATA(A/G) found in the regulatory regions of many erythroid-specific genes. GATA1 is a key regulator of erythroid development and functions both as an activator and a repressor. The composition of GATA1-associated proteins (such as hematopoietic transcription factors and chromatin modifying complexes) modulates the activity of the multiprotein complex on the β-globin locus (LCRB) and implicates GATA1 in the regulation of fetal-to-adult hemoglobin switch. Experimental studies have demonstrated that GATA1-KLF1 fusion proteins interact with the HBD promoter to enhance δ-globin gene and HbA2 expression, as well as reduce hypoxia-related sickling, in erythroid cells cultured from both human sickle CD34+ cells and SCD mouse hematopoietic stem cells (HSCs). Mutations in this gene cause X-linked dyserythropoietic anemia and thrombocytopenia.
Synonyms: GF1 , GF-1 , NFE1 , XLTT , ERYF1 , NF-E1 , XLANP , XLTDA , GATA-1
Comments:
N/A
Number of entries/variants: 0
IthaScore
Sequence Viewer
Publications / Origin
- Fujiwara T, O'Geen H, Keles S, Blahnik K, Linnemann AK, Kang YA, Choi K, Farnham PJ, Bresnick EH, Discovering hematopoietic mechanisms through genome-wide analysis of GATA factor chromatin occupancy., Mol. Cell , 36(4), 667-81, 2009 PubMed
- Wilber A, Nienhuis AW, Persons DA, Transcriptional regulation of fetal to adult hemoglobin switching: new therapeutic opportunities., Blood , 117(15), 3945-53, 2011 PubMed
- Zhu J, Li H, Aerbajinai W, Kumkhaek C, Pirooznia M, Saxena A, Dagur P, Chin K, Rodgers GP, Kruppel-like factor 1-GATA1 fusion protein improves the sickle cell disease phenotype in mice both in vitro and in vivo., Blood, 140(21), 2276-2289, 2022 PubMed
A/A | Date | Curator(s) | Comments |
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1 | The IthaGenes Curation Team | Created | |
2 | 2016-04-25 13:16:19 | The IthaGenes Curation Team | Reviewed. |
3 | 2016-04-25 14:07:07 | The IthaGenes Curation Team | Reviewed. |
4 | 2023-01-11 14:24:19 | The IthaGenes Curation Team | Reviewed. Reference added, Comment updated. |