GeneID: 40


Common Name: GATA1 Type: Gene
Chromosome: X (NC_000023.11) Locus: NG_008846.2  (GATA1)
HUGO Symbol: GATA1 Full Name: GATA binding protein 1
Exons: 6 Introns: 5

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. Mutations in this gene cause X-linked dyserythropoietic anemia and thrombocytopenia.

Synonyms: GF1 , GF-1 , NFE1 , XLTT , ERYF1 , NF-E1 , XLANP , XLTDA , GATA-1 ,


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Publications / Origin

  1. 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
  2. Wilber A, Nienhuis AW, Persons DA, Transcriptional regulation of fetal to adult hemoglobin switching: new therapeutic opportunities., Blood , 117(15), 3945-53, 2011 PubMed
Created on , Last reviewed on 2016-04-25 14:07:07 (Show full history)

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