GATA1 Antibody – Rabbit Polyclonal

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; transcription factor complex; transcriptional repressor complex; nucleus

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

Biological Process: transcription from RNA polymerase II promoter; erythrocyte development; embryonic hemopoiesis; megakaryocyte differentiation; in utero embryonic development; positive regulation of erythrocyte differentiation; eosinophil differentiation; male gonad development; negative regulation of transcription from RNA polymerase II promoter; negative regulation of cell proliferation; negative regulation of bone mineralization; positive regulation of peptidyl-tyrosine phosphorylation; cell-cell signaling; positive regulation of osteoblast proliferation; erythrocyte differentiation; positive regulation of transcription from RNA polymerase II promoter; platelet formation; blood coagulation; basophil differentiation; negative regulation of apoptosis

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