GATA1 è un gene codificato dal simbolo GATA1. Comunemente indicato anche come: Erythroid transcription factor; Eryf1; GATA-binding factor 1; GATA-1; NF-E1 DNA-binding protein; ERYF1; GF1. GATA1 ha una massa di 42.75kDa, una lunghezza di amminoacidi di 413, ed è implicato nella malattia: X-linked dyserythropoietic anemia and thrombocytopenia; Thrombocytopenia with beta-thalassemia, X-linked; Anemia without thrombocytopenia, X-linked.
Offriamo 18 anticorpi contro GATA1, allevati nel Coniglio e Capra, che sono adatti per WB, IHC, ELISA, ICC/IF, Citometria a Flusso e IP con campioni derivati da Umano, Topo, Ratto e Scimmia.
Informazioni su geni e proteine
Riepilogo UniProt
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).
Sommario di Entrez
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.
Specificità del tessuto
Erythrocytes.
Coinvolgimento nella malattia
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.
Modifica post-translazionale
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).
Posizione cellulare
Nucleus.
