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Reviewed July 2010
What is the official name of the GATA1 gene?
The official name of this gene is “GATA binding protein 1 (globin transcription factor 1).”
GATA1 is the gene's official symbol. The GATA1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the GATA1 gene?
The GATA1 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and helps control the activity of many other genes. On the basis of this action, the GATA1 protein is known as a transcription factor. The GATA1 protein is involved in the specialization (differentiation) of immature blood cells. To function properly, these immature cells must differentiate into specific types of mature blood cells. By binding to DNA and interacting with other proteins, the GATA1 protein regulates the growth and division (proliferation) of immature red blood cells and platelet-precursor cells (megakaryocytes) to facilitate their differentiation. Red blood cells help carry oxygen to various tissues throughout the body and platelets aid in blood clotting. The GATA1 protein is also important for the maturation of several types of white blood cells that help fight infection, including eosinophils, mast cells, and dendritic cells.
Two versions of the GATA1 protein are produced from the GATA1 gene: a regular length protein and a shorter version called GATA1s. The GATA1s protein lacks a specific region called the transactivation domain. Although the specific function of this region is unclear, researchers believe that it interacts with other proteins to modify GATA1 protein function.
How are changes in the GATA1 gene related to health conditions?
Where is the GATA1 gene located?
Cytogenetic Location: Xp11.23
Molecular Location on the X chromosome: base pairs 48,644,981 to 48,652,717
The GATA1 gene is located on the short (p) arm of the X chromosome at position 11.23.
More precisely, the GATA1 gene is located from base pair 48,644,981 to base pair 48,652,717 on the X chromosome.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about GATA1?
You and your healthcare professional may find the following resources about GATA1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the GATA1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding GATA1?
acute ; amino acid ; anemia ; blood clotting ; bone marrow ; cancer ; chromosome ; clotting ; differentiation ; DNA ; domain ; eosinophils ; fibrosis ; gene ; heart failure ; hepatic ; hydrops fetalis ; infection ; leukemia ; mast cells ; oxygen ; platelets ; proliferation ; protein ; syndrome ; thrombocytopenia ; tissue ; transcription ; transcription factor ; transient ; trisomy ; white blood cells
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (9 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.