Recombinant Human Erythroid transcription factor (GATA1)

Uniprot Id

P15976

Target Species

Human

Target Name

GATA1

Target Full Name

Erythroid transcription factor

Target Function

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.

Target Involvement

X-linked dyserythropoietic anemia and thrombocytopenia (XDAT); Thrombocytopenia with beta-thalassemia, X-linked (XLTT); Anemia without thrombocytopenia, X-linked (XLAWT)

Target Subcellular Location

Nucleus.

Target Tissue Specificity

Erythrocytes.

Target Synonyms

Anemia; X-linked; without thrombocytopenia; included; ERYF 1; Eryf1; Erythroid transcription factor; Erythrold transcription factor 1; GATA 1; GATA binding factor 1; GATA binding protein 1 (globin transcription factor 1); GATA binding protein 1; GATA-1; GATA-binding factor 1; GATA1; GATA1_HUMAN; GF 1; GF-1; GF1; Globin transcription factor 1; NF E1; NF E1 DNA binding protein; NF-E1 DNA-binding protein; NFE 1; NFE1 ; Nuclear factor erythroid 1; Transcription factor GATA1; XLANP; XLTDA; XLTT

Target Background

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.