GATA1
| GATA binding protein 1 (globin transcription factor 1)
| |
| Identifiers | |
| Symbol | GATA1 |
| Alt. Symbols | GF1 NFE1 ERYF1 |
| Entrez | 2623 |
| HUGO | 4170 |
| OMIM | 305371 |
| RefSeq | NM_002049 |
| UniProt | P15976 |
| Other data | |
| Locus | Chr. X p11.23 |
GATA1 is an important transcription factor involved in cell growth and cancer.
It is essential for erythroid(red blood cell) and megakaryocytic development and mice without GATA1 die as embryos. It helps transcribe the α-spectrin structural protein which is critical for the shape of red blood cells.
The molecule contains three domains the C-finger the N-finger and the Activation Domain. The C-finger, named for being near the C-terminal, has a Zinc finger DNA binding domain. The N-finger, named for being near the N-terminal also binds DNA and a cofactor named FOG-1. The Activation Domain is responsible for GATA1's strong transcriptional activation. The gene for GATA1 is on the X-chromosome.
It has been found to enhance the transcription rates by up to 100 times in humans[1].
In 2002, Wechsler J et al[2] demonstrated mutations in exon 2 of the GATA1 gene present in almost all cases of Down syndrome (DS)-associated acute megakaryoblastic leukemia (AMKL).[3]. While AMKL is typically associated with the 1;22 translocation and expression of a mutant fusion protein, the genetic alterations that promote individuals with DS-AMKL are related to the GATA1 mutations, and the formation of a truncated transcription factor (GATA1s). In 2003, Greene et al showed the same mutations in exon 2 of GATA1 present in almost all Down Syndrome-associated transient myeloproliferative disorder (TMD) or transient leukemia (TL), a precursor condition that evolves into AMKL in 30% of patients, that as many as 10% of Down Syndrome children may develop. Pine SR et al demostrated an incidence for the GATA1 mutation in about 4% of Down Syndrome patients tested, but less than 10% of those with the mutation developed AMKL. Shimada et al. showed in 2004 that the mutation is present in the fetus, suggesting an early role in leukemogenesis. In addition to screening for TL, a GATA1 mutation at birth might serve as a bio-marker for an increased risk of DS-related AMKL.
References
- ↑ Wong EY; Lin J; Forget BG; Bodine DM; Gallagher PG (Dec 2004). "Sequences downstream of the erythroid promoter are required for high level expression of the human alpha-spectrin gene.". J Biol Chem. 279 (53): 55024-33. doi:10.1074/jbc.M408886200. PMID 15456760.
- ↑ Wechsler J et al (Sep 2002). "Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome". Nat Genet. 32: 148-52. PMID 12172547.
- ↑ Rainis L et al. (Aug 2003). "Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21". Blood 102 (3): 981-6. PMID 12649131.
External links
Transcription factors and intracellular receptors | |||||||||||||
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| (1) Basic domains |
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| (2) Zinc finger DNA-binding domains |
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| (3) Helix-turn-helix domains |
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| (4) β-Scaffold factors with minor groove contacts |
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| (0) Other transcription factors |
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