GATA binding protein 1 (globin transcription factor 1)
413 amino acids; about 43 kDa
The gene encodes a protein which belongs to the GATA family of transcription factors. GATA1 is essential for erythroid and megakaryocytic development. It helps transcribe the α-spectrin structural protein which is critical for the shape of red blood cells.
Somatic mutations are seen in hematopoietic and lymphoid tissue tumors. They alter the first 80 amino acids of the protein.
Acquired somatic mutations in GATA1 occur in virtually all children with Down Syndrome (DS) and congenital transient myeloproliferative syndrome (TMD) or acute megakaryocytic leukemia (AMKL). The mutations have also been detected in umbilical cord blood of DS patients and in fetal liver of aborted DS embryos. The mutations occur in-utero probably during fetal liver hematopoiesis. They consist of insertions, deletions and base substitution in exon 2 and vicinity and all result in elimination of the full length GATA1 protein with preservation of the GATA1s isoform.
Mutational spectrum at GATA1 provides insights into mutagenesis and leukemogenesis in Down syndrome. Cabelof DC, Patel HV, Chen Q, van Remmen H, Matherly LH, Ge Y, Taub JW. Blood. 2009 Sep 24;114(13):2753-63.