GATA1

Erythroid transcription factor ;
Eryf1 ;
GATA-binding factor 1 ;
GATA-1 ;
GF-1 ;
NF-E1 DNA-binding protein ;

disease:Defects in GATA1 are the cause of X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]. XDAT is a disorder characterized by erythrocytes with abnormal size and shape , and paucity of platelets in peripheral blood. The bone marrow contains abundant and abnormally small megakaryocytes. ,disease:Defects in GATA1 are the cause of X-linked thrombocytopenia with beta-thalassemia (XLTT) [MIM:314050]; also called thrombocytopenia , platelet dysfunction , hemolysis , and imbalanced globin synthesis. The disease consists of an unusual form of thrombocytopenia with beta-thalassemia. Patients have splenomegaly and petechiae , moderate thrombocytopenia , prolonged bleeding time due to platelet dysfunction , reticulocytosis and unbalanced (hemo) globin chain synthesis resembling that of beta-thalassemia minor. ,domain:The two fingers are functionally distinct and cooperate to achieve specific , stable DNA binding. The first finger is necessary only for full specificity and stability of binding , whereas the second one is required for binding. ,function:Transcriptional activator which probably serves as a general switch factor for erythroid development. It binds to DNA sites with the consensus sequence [AT]GATA[AG] within regulatory regions of globin genes and of other genes expressed in erythroid cells. ,PTM:Highly phosphorylated on serine residues. Phosphorylation on Ser-310 is enhanced on erythroid differentiation. Phosphorylation on Ser-142 promotes sumoylation on Lys-137. ,PTM:Sumoylation on Lys-137 is enhanced by phosphorylation on Ser-142 and by interaction with PIAS4. Sumoylation by SUMO1 has no effect on transcriptional activity. ,similarity:Contains 2 GATA-type zinc fingers. ,subunit:Interacts (via the N-terminal zinc finger) with ZFPM1. Interacts with GFI1B. Interacts with PIAS4; the interaction enhances sumoylation and represses the transactivational activity in a sumoylation-independent manner. ,tissue specificity:Erythrocytes. ,

transcription , regulation of transcription , DNA-dependent , regulation of transcription from RNA polymerase II promoter ,regulation of transcription , regulation of RNA metabolic process ,

Nucleus.