GATA1 Antibody – Mouse Monoclonal

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]

GATA1: 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. 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 CREBBP; the interaction stimulates acetylation and transcriptional activity in vivo. Interacts with EP300. Erythrocytes. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: DNA-binding; Transcription factor

Chromosomal Location of Human Ortholog: Xp11.23

Cellular Component: nucleoplasm; nucleus; transcription factor complex; transcriptional repressor complex

Molecular Function: chromatin DNA binding; DNA bending activity; DNA binding; p53 binding; protein binding; sequence-specific DNA binding; transcription factor activity; zinc ion binding

Biological Process: basophil differentiation; blood coagulation; cell-cell signaling; embryonic hemopoiesis; eosinophil differentiation; erythrocyte development; erythrocyte differentiation; gut development; heart development; homeostasis of number of cells within a tissue; in utero embryonic development; male gonad development; megakaryocyte differentiation; negative regulation of apoptosis; negative regulation of bone mineralization; negative regulation of cell proliferation; negative regulation of transcription from RNA polymerase II promoter; organ morphogenesis; platelet formation; positive regulation of erythrocyte differentiation; positive regulation of osteoblast proliferation; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; tissue development; transcription from RNA polymerase II promoter

Disease: Anemia, X-linked, With Or Without Neutropenia And/or Platelet Abnormalities; Down Syndrome; Thrombocytopenia With Beta-thalassemia, X-linked; Thrombocytopenia, X-linked, With Or Without Dyserythropoietic Anemia