Aliases for GATA1 Gene
External Ids for GATA1 Gene
Previous HGNC Symbols for GATA1 Gene
Previous GeneCards Identifiers for GATA1 Gene
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]
GeneCards Summary for GATA1 Gene
GATA1 (GATA Binding Protein 1) is a Protein Coding gene. Diseases associated with GATA1 include Thrombocytopenia With Beta-Thalassemia, X-Linked and Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia. Among its related pathways are Platelet activation, signaling and aggregation and Notch-mediated HES/HEY network. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. An important paralog of this gene is GATA2.
UniProtKB/Swiss-Prot for GATA1 Gene
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).