GATA1 ist ein Gen, das durch das Symbol GATA1 kodiert wird. Im Allgemeinen auch bezeichnet als: Erythroid transcription factor; Eryf1; GATA-binding factor 1; GATA-1; NF-E1 DNA-binding protein; ERYF1; GF1. GATA1 hat eine Masse von 42.75kDa, eine Aminosäurelänge von 413, und ist an folgenden Krankheiten beteiligt: X-linked dyserythropoietic anemia and thrombocytopenia; Thrombocytopenia with beta-thalassemia, X-linked; Anemia without thrombocytopenia, X-linked.
Wir bieten 6 GATA1 ELISA-Kits zum qualitativen oder quantitativen Nachweis von GATA1 von Human, Maus und Ratte proben.
Gen- und Proteininformationen
UniProt Zusammenfassung
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).
Entrez Zusammenfassung
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.
Gewebespezifität
Erythrocytes.
Rolle bei Krankheiten
X-linked dyserythropoietic anemia and thrombocytopenia: 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: 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: 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.
Posttranslationale Modifikation
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).
