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Gene Review

GATA1  -  GATA binding protein 1 (globin...

Homo sapiens

Synonyms: ERYF1, Eryf1, Erythroid transcription factor, GATA-1, GATA-binding factor 1, ...
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Disease relevance of GATA1


High impact information on GATA1


Chemical compound and disease context of GATA1


Biological context of GATA1


Anatomical context of GATA1

  • Defects in the X-linked DNA-binding megakaryocyte transcription factor GATA1 cause thrombocytopenia and abnormal platelet function [15].
  • Comparison of the phenotypic characteristics of patients from both families revealed that platelet and erythrocyte morphology as well as expression levels of the platelet GATA1-target gene products were more profoundly disturbed for the hemizygote D218Y mutation [16].
  • GATA1 mutations were not detected in 62 non-DS cord blood samples [3].
  • To determine whether mutations in the hematopoietic transcription factor GATA1 are associated with leukemia, we assayed for alterations in the GATA1 gene in bone marrow samples from patients with various subtypes of acute leukemia [17].
  • Essential and instructive roles of GATA factors in eosinophil development [18].

Associations of GATA1 with chemical compounds


Physical interactions of GATA1

  • The proximal region, -1 to -60, contains a GATA binding sequence around -37 and an SP1 binding sequence around -50 [25].
  • We demonstrate further that GATA inhibits binding of PU.1 to c-Jun, a critical coactivator of PU.1 transactivation of myeloid promoters [26].
  • The three first GATA1 mutants display a disturbed binding to their essential transcription cofactor FOG1, whereas the fourth mutant shows an abnormal direct DNA binding [16].
  • We propose that GATA-2 is the GATA-binding protein required for PPET-1 gene expression in endothelial cells [27].
  • PLZF induces megakaryocytic development, activates Tpo receptor expression and interacts with GATA1 protein [28].

Enzymatic interactions of GATA1

  • Thus, in erythroid precursors undergoing terminal differentiation, Hsp70 prevents active caspase-3 from cleaving GATA-1 and inducing apoptosis [29].

Regulatory relationships of GATA1

  • The C/EBPepsilon(27) isoform strongly represses GATA-1 activity and completely blocks GATA-1/PU.1 synergy [30].
  • Closer examination revealed a cross-regulatory mechanism by which GATA-1 can control the expression of GATA-2 and vice versa, possibly via essential GATA binding sites in their cis-acting elements [31].
  • Thus the extent to which the procathepsin E gene is expressed in a particular cell type may depend on the balance between the effects produced by positive-acting, cell-specific transcription factors such as GATA1 and PU1 and the negative influence of the ubiquitous YY1 factor [32].
  • Of the GATA-binding proteins, only GATA-4 selectively regulates the human interleukin-5 gene promoter in interleukin-5-producing cells which express multiple GATA-binding proteins [33].
  • Interaction between hex and GATA transcription factors in vascular endothelial cells inhibits flk-1/KDR-mediated vascular endothelial growth factor signaling [34].

Other interactions of GATA1

  • This member, called hGATA3, has 85% amino acid homology with hGATA1 in the DNA-binding domain and no homology elsewhere in the protein [35].
  • This transactivation is abolished by mutations that impair either the -37 GATA-1 or the -50 SP1 binding [25].
  • When they are induced to display the terminal erythroid phenotype, little change in the level of GATA-1 is detected but a significant decline in the levels of GATA-2 is observed commensurate with the degree of maturation achieved by the cells [36].
  • These results suggest that RUNX1 may participate in the programming of megakaryocytic lineage commitment through functional and physical interactions with GATA transcription factors [37].
  • Jun blockade of erythropoiesis: role for repression of GATA-1 by HERP2 [38].

Analytical, diagnostic and therapeutic context of GATA1


  1. Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. Wechsler, J., Greene, M., McDevitt, M.A., Anastasi, J., Karp, J.E., Le Beau, M.M., Crispino, J.D. Nat. Genet. (2002) [Pubmed]
  2. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nichols, K.E., Crispino, J.D., Poncz, M., White, J.G., Orkin, S.H., Maris, J.M., Weiss, M.J. Nat. Genet. (2000) [Pubmed]
  3. Natural history of GATA1 mutations in Down syndrome. Ahmed, M., Sternberg, A., Hall, G., Thomas, A., Smith, O., O'Marcaigh, A., Wynn, R., Stevens, R., Addison, M., King, D., Stewart, B., Gibson, B., Roberts, I., Vyas, P. Blood (2004) [Pubmed]
  4. Ski negatively regulates erythroid differentiation through its interaction with GATA1. Ueki, N., Zhang, L., Hayman, M.J. Mol. Cell. Biol. (2004) [Pubmed]
  5. Differential gene expression, GATA1 target genes, and the chemotherapy sensitivity of Down syndrome megakaryocytic leukemia. Ge, Y., Dombkowski, A.A., LaFiura, K.M., Tatman, D., Yedidi, R.S., Stout, M.L., Buck, S.A., Massey, G., Becton, D.L., Weinstein, H.J., Ravindranath, Y., Matherly, L.H., Taub, J.W. Blood (2006) [Pubmed]
  6. An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis. Hollanda, L.M., Lima, C.S., Cunha, A.F., Albuquerque, D.M., Vassallo, J., Ozelo, M.C., Joazeiro, P.P., Saad, S.T., Costa, F.F. Nat. Genet. (2006) [Pubmed]
  7. Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals. Tournamille, C., Colin, Y., Cartron, J.P., Le Van Kim, C. Nat. Genet. (1995) [Pubmed]
  8. The role of cytidine deaminase and GATA1 mutations in the increased cytosine arabinoside sensitivity of Down syndrome myeloblasts and leukemia cell lines. Ge, Y., Jensen, T.L., Stout, M.L., Flatley, R.M., Grohar, P.J., Ravindranath, Y., Matherly, L.H., Taub, J.W. Cancer Res. (2004) [Pubmed]
  9. In vivo footprinting of the human alpha-globin locus upstream regulatory element by guanine and adenine ligation-mediated polymerase chain reaction. Strauss, E.C., Andrews, N.C., Higgs, D.R., Orkin, S.H. Mol. Cell. Biol. (1992) [Pubmed]
  10. The proximal promoter region of the gene encoding human 17beta-hydroxysteroid dehydrogenase type 1 contains GATA, AP-2, and Sp1 response elements: analysis of promoter function in choriocarcinoma cells. Piao, Y.S., Peltoketo, H., Vihko, P., Vihko, R. Endocrinology (1997) [Pubmed]
  11. A mutation in the translation initiation codon of Gata-1 disrupts megakaryocyte maturation and causes thrombocytopenia. Majewski, I.J., Metcalf, D., Mielke, L.A., Krebs, D.L., Ellis, S., Carpinelli, M.R., Mifsud, S., Di Rago, L., Corbin, J., Nicola, N.A., Hilton, D.J., Alexander, W.S. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  12. Association of erythroid transcription factors: complexes involving the LIM protein RBTN2 and the zinc-finger protein GATA1. Osada, H., Grutz, G., Axelson, H., Forster, A., Rabbitts, T.H. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  13. Identification of distinct molecular phenotypes in acute megakaryoblastic leukemia by gene expression profiling. Bourquin, J.P., Subramanian, A., Langebrake, C., Reinhardt, D., Bernard, O., Ballerini, P., Baruchel, A., Cavé, H., Dastugue, N., Hasle, H., Kaspers, G.L., Lessard, M., Michaux, L., Vyas, P., van Wering, E., Zwaan, C.M., Golub, T.R., Orkin, S.H. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  14. Induction of hematopoietic commitment and erythromyeloid differentiation in embryonal stem cells constitutively expressing c-myb. Melotti, P., Calabretta, B. Blood (1996) [Pubmed]
  15. Selective impairment of platelet activation to collagen in the absence of GATA1. Hughan, S.C., Senis, Y., Best, D., Thomas, A., Frampton, J., Vyas, P., Watson, S.P. Blood (2005) [Pubmed]
  16. Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation. Freson, K., Matthijs, G., Thys, C., Mariën, P., Hoylaerts, M.F., Vermylen, J., Van Geet, C. Hum. Mol. Genet. (2002) [Pubmed]
  17. Mutations in GATA1 in both transient myeloproliferative disorder and acute megakaryoblastic leukemia of Down syndrome. Greene, M.E., Mundschau, G., Wechsler, J., McDevitt, M., Gamis, A., Karp, J., Gurbuxani, S., Arceci, R., Crispino, J.D. Blood Cells Mol. Dis. (2003) [Pubmed]
  18. Essential and instructive roles of GATA factors in eosinophil development. Hirasawa, R., Shimizu, R., Takahashi, S., Osawa, M., Takayanagi, S., Kato, Y., Onodera, M., Minegishi, N., Yamamoto, M., Fukao, K., Taniguchi, H., Nakauchi, H., Iwama, A. J. Exp. Med. (2002) [Pubmed]
  19. Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation. Freson, K., Devriendt, K., Matthijs, G., Van Hoof, A., De Vos, R., Thys, C., Minner, K., Hoylaerts, M.F., Vermylen, J., Van Geet, C. Blood (2001) [Pubmed]
  20. Expression of mRNA for the GATA-binding proteins in human eosinophils and basophils: potential role in gene transcription. Zon, L.I., Yamaguchi, Y., Yee, K., Albee, E.A., Kimura, A., Bennett, J.C., Orkin, S.H., Ackerman, S.J. Blood (1993) [Pubmed]
  21. GATA-binding proteins regulate the human gonadotropin alpha-subunit gene in the placenta and pituitary gland. Steger, D.J., Hecht, J.H., Mellon, P.L. Mol. Cell. Biol. (1994) [Pubmed]
  22. Megakaryocytic differentiation induced in 416B myeloid cells by GATA-2 and GATA-3 transgenes or 5-azacytidine is tightly coupled to GATA-1 expression. Visvader, J., Adams, J.M. Blood (1993) [Pubmed]
  23. Neurokinin-B transcription in erythroid cells: direct activation by the hematopoietic transcription factor GATA-1. Pal, S., Nemeth, M.J., Bodine, D., Miller, J.L., Svaren, J., Thein, S.L., Lowry, P.J., Bresnick, E.H. J. Biol. Chem. (2004) [Pubmed]
  24. GATA-1 and Gfi-1B interplay to regulate Bcl-xL transcription. Kuo, Y.Y., Chang, Z.F. Mol. Cell. Biol. (2007) [Pubmed]
  25. Erythroid-specific activity of the glycophorin B promoter requires GATA-1 mediated displacement of a repressor. Rahuel, C., Vinit, M.A., Lemarchandel, V., Cartron, J.P., Roméo, P.H. EMBO J. (1992) [Pubmed]
  26. Negative cross-talk between hematopoietic regulators: GATA proteins repress PU.1. Zhang, P., Behre, G., Pan, J., Iwama, A., Wara-Aswapati, N., Radomska, H.S., Auron, P.E., Tenen, D.G., Sun, Z. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  27. Human transcription factor GATA-2. Evidence for regulation of preproendothelin-1 gene expression in endothelial cells. Dorfman, D.M., Wilson, D.B., Bruns, G.A., Orkin, S.H. J. Biol. Chem. (1992) [Pubmed]
  28. PLZF induces megakaryocytic development, activates Tpo receptor expression and interacts with GATA1 protein. Labbaye, C., Quaranta, M.T., Pagliuca, A., Militi, S., Licht, J.D., Testa, U., Peschle, C. Oncogene (2002) [Pubmed]
  29. Hsp70 regulates erythropoiesis by preventing caspase-3-mediated cleavage of GATA-1. Ribeil, J.A., Zermati, Y., Vandekerckhove, J., Cathelin, S., Kersual, J., Dussiot, M., Coulon, S., Moura, I.C., Zeuner, A., Kirkegaard-S??rensen, T., Varet, B., Solary, E., Garrido, C., Hermine, O. Nature (2007) [Pubmed]
  30. Novel combinatorial interactions of GATA-1, PU.1, and C/EBPepsilon isoforms regulate transcription of the gene encoding eosinophil granule major basic protein. Du, J., Stankiewicz, M.J., Liu, Y., Xi, Q., Schmitz, J.E., Lekstrom-Himes, J.A., Ackerman, S.J. J. Biol. Chem. (2002) [Pubmed]
  31. Roles of hematopoietic transcription factors GATA-1 and GATA-2 in the development of red blood cell lineage. Ohneda, K., Yamamoto, M. Acta Haematol. (2002) [Pubmed]
  32. Regulation of human and mouse procathepsin E gene expression. Cook, M., Caswell, R.C., Richards, R.J., Kay, J., Tatnell, P.J. Eur. J. Biochem. (2001) [Pubmed]
  33. Of the GATA-binding proteins, only GATA-4 selectively regulates the human interleukin-5 gene promoter in interleukin-5-producing cells which express multiple GATA-binding proteins. Yamagata, T., Nishida, J., Sakai, R., Tanaka, T., Honda, H., Hirano, N., Mano, H., Yazaki, Y., Hirai, H. Mol. Cell. Biol. (1995) [Pubmed]
  34. Interaction between hex and GATA transcription factors in vascular endothelial cells inhibits flk-1/KDR-mediated vascular endothelial growth factor signaling. Minami, T., Murakami, T., Horiuchi, K., Miura, M., Noguchi, T., Miyazaki, J., Hamakubo, T., Aird, W.C., Kodama, T. J. Biol. Chem. (2004) [Pubmed]
  35. A T-cell specific TCR delta DNA binding protein is a member of the human GATA family. Joulin, V., Bories, D., Eléouet, J.F., Labastie, M.C., Chrétien, S., Mattéi, M.G., Roméo, P.H. EMBO J. (1991) [Pubmed]
  36. Dynamics of GATA transcription factor expression during erythroid differentiation. Leonard, M., Brice, M., Engel, J.D., Papayannopoulou, T. Blood (1993) [Pubmed]
  37. RUNX1 and GATA-1 coexpression and cooperation in megakaryocytic differentiation. Elagib, K.E., Racke, F.K., Mogass, M., Khetawat, R., Delehanty, L.L., Goldfarb, A.N. Blood (2003) [Pubmed]
  38. Jun blockade of erythropoiesis: role for repression of GATA-1 by HERP2. Elagib, K.E., Xiao, M., Hussaini, I.M., Delehanty, L.L., Palmer, L.A., Racke, F.K., Birrer, M.J., Shanmugasundaram, G., McDevitt, M.A., Goldfarb, A.N. Mol. Cell. Biol. (2004) [Pubmed]
  39. Molecular cloning and characterization of the GATA1 cofactor human FOG1 and assessment of its binding to GATA1 proteins carrying D218 substitutions. Freson, K., Thys, C., Wittewrongel, C., Vermylen, J., Hoylaerts, M.F., Van Geet, C. Hum. Genet. (2003) [Pubmed]
  40. Transcriptional regulation of the human reduced folate carrier A1/A2 promoter: Identification of critical roles for the USF and GATA families of transcription factors. Payton, S.G., Liu, M., Ge, Y., Matherly, L.H. Biochim. Biophys. Acta (2005) [Pubmed]
  41. GATA transcription factors associate with a novel class of nuclear bodies in erythroblasts and megakaryocytes. Elefanty, A.G., Antoniou, M., Custodio, N., Carmo-Fonseca, M., Grosveld, F.G. EMBO J. (1996) [Pubmed]
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