ID:GATA1_HUMAN DESCRIPTION: RecName: Full=Erythroid transcription factor; AltName: Full=Eryf1; AltName: Full=GATA-binding factor 1; Short=GATA-1; Short=GF-1; AltName: Full=NF-E1 DNA-binding protein; 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. SUBUNIT: May form homodimers or heterodimers with other isoforms. 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. Interacts with LMCD1. Interacts with BRD3 (By similarity). Interacts with CREBBP; the interaction stimulates acetylation and transcriptional activity in vivo (By similarity). Interacts with EP300. INTERACTION: P08107:HSPA1B; NbExp=5; IntAct=EBI-3909284, EBI-629985; SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Erythrocytes. 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). PTM: 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). PTM: 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). PTM: 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. 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 knwon as thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis. XLTT 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 hemoglobin chain synthesis resembling that of beta-thalassemia minor. DISEASE: Defects in GATA1 are the cause of anemia without thrombocytopenia X-linked (XLAWT) [MIM:300835]. XLAWT is 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. SIMILARITY: Contains 2 GATA-type zinc fingers. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/GATA1ID40689chXp11.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GATA1";
ModBase Predicted Comparative 3D Structure on P15976
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