GATA1

This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq, Jul 2008]

GATA Binding Protein 1

Transcriptional activator or repressor which probably serves as a general switch factor for erythroid development. 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).

Basophil differentiation Source: BHF-UCL
Cell-cell signaling Source: Ensembl
Cell fate commitment Source: GO_Central
Cellular response to thyroid hormone stimulus Source: UniProtKB
Dendritic cell differentiation Source: Ensembl
Embryonic hemopoiesis Source: Ensembl
Eosinophil differentiation Source: BHF-UCL
Eosinophil fate commitment Source: BHF-UCL
Erythrocyte development Source: BHF-UCL
Erythrocyte differentiation Source: BHF-UCL
Homeostasis of number of cells within a tissue Source: Ensembl
In utero embryonic development Source: Ensembl
Male gonad development Source: BHF-UCL
Megakaryocyte differentiation Source: BHF-UCL
Negative regulation of apoptotic process Source: UniProtKB
Negative regulation of bone mineralization Source: Ensembl
Negative regulation of cell population proliferation Source: Ensembl
Negative regulation of extrinsic apoptotic signaling pathway in absence of ligand Source: BHF-UCL
Negative regulation of transcription by RNA polymerase II Source: UniProtKB
Negative regulation of transcription regulatory region DNA binding Source: BHF-UCL
Platelet aggregation Source: BHF-UCL
Platelet formation Source: BHF-UCL
Positive regulation of erythrocyte differentiation Source: UniProtKB
Positive regulation of osteoblast proliferation Source: Ensembl
Positive regulation of peptidyl-tyrosine phosphorylation Source: BHF-UCL
Positive regulation of transcription, DNA-templated Source: UniProtKB
Positive regulation of transcription by RNA polymerase II Source: BHF-UCL
Regulation of definitive erythrocyte differentiation Source: BHF-UCL
Regulation of glycoprotein biosynthetic process Source: BHF-UCL
Regulation of primitive erythrocyte differentiation Source: Ensembl
Regulation of transcription by RNA polymerase II Source: GO_Central

Nucleus

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.
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.
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.

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.