GATA1
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 (By similarity).
Function
Transcriptional activator or repressor which serves as a general switch factor for erythroid development (PubMed:35030251). It binds to DNA sites with the consensus sequence 5'-[AT]GATA[AG]-3' within regulatory regions of globin genes and of other genes expressed in erythroid cells. Activates the transcription of genes involved in erythroid differentiation of K562 erythroleukemia cells, including HBB, HBG1/2, ALAS2 and HMBS (PubMed:24245781).
Involvement in disease
X-linked dyserythropoietic anemia and thrombocytopenia
XDAT
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Thrombocytopenia with beta-thalassemia, X-linked
XLTT
An unusual form of thrombocytopenia associated 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Anemia without thrombocytopenia, X-linked
XLAWT
A form of anemia characterized by abnormal morphology of erythrocytes and granulocytes in peripheral blood, bone marrow dysplasia with hypocellularity of erythroid and granulocytic lineages, and normal or increased number of megakaryocytes. Neutropenia of a variable degree is present in affected individuals.
None
The disease is caused by variants affecting the gene represented in this entry.
Hemolytic anemia due to elevated adenosine deaminase
HAEADA
An X-linked disorder characterized by onset of mild to moderate red cell anemia soon after birth or in childhood. The anemia is associated with significantly increased adenosine deaminase activity, specifically in erythrocyte precursors.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Highly phosphorylated on serine residues. Phosphorylation on Ser-310 is enhanced on erythroid differentiation. Phosphorylation on Ser-142 promotes sumoylation on Lys-137 (By similarity).
Sumoylation on Lys-137 is enhanced by phosphorylation on Ser-142 and by interaction with PIAS4. Sumoylation with SUMO1 has no effect on transcriptional activity (By similarity).
Acetylated at 2 conserved lysine-rich motifs by CREBBP in vitro. Acetylation does not affect DNA-binding in vitro but is essential to induce erythroid differentiation and for binding chromatin in vivo (By similarity). Acetylated on Lys-233, Lys-245 Lys-246 by EP300.
Tissue Specificity
Erythrocytes.
Cellular localization
- Nucleus
Alternative names
ERYF1, GF1, GATA1, Erythroid transcription factor, Eryf1, GATA-binding factor 1, NF-E1 DNA-binding protein, GATA-1, GF-1