GATA1 : GATA binding protein 1

Description

The GATA1 (GATA binding protein 1) is a protein-coding gene located on chromosome X.

The GATA1 gene provides instructions for making a protein that binds to specific regions of DNA and regulates the activity of other genes. This protein, known as a transcription factor, controls the growth and division of immature red blood cells and platelet-precursor cells, facilitating their differentiation into mature blood cells. Red blood cells transport oxygen throughout the body, and platelets aid in blood clotting. GATA1 is also crucial for the maturation of certain white blood cells, including eosinophils, mast cells, and dendritic cells, which fight infection. The GATA1 gene produces two versions of the protein: a regular-length protein and a shorter version called GATA1s. The shorter version lacks a specific region called the transactivation domain, whose exact function is unclear but is believed to interact with other proteins to modify GATA1 protein function.

GATA1 is a transcription factor that acts as a general switch for erythroid development. It binds to specific DNA sequences, known as GATA motifs (5'-[AT]GATA[AG]-3'), within regulatory regions of genes expressed in erythroid cells, including globin genes. This binding regulates the transcription of these genes, ultimately controlling the differentiation of erythroid cells. Studies have shown that GATA1 activates the transcription of genes involved in erythroid differentiation of K562 erythroleukemia cells, including HBB, HBG1/2, ALAS2, and HMBS.

GATA1 is also known as ERYF1, GATA-1, GF-1, GF1, HAEADA, NF-E1, NFE1, XLANP, XLTDA, XLTT.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing