GATA1
Sign in to saveAlso known as ERYF1, GATA-1, GF-1, GF1, NF-E1, NFE1, XLANP, XLTDA
GATA-binding factor 1 or GATA-1 (also termed Erythroid transcription factor) is the founding member of the GATA family of transcription factors. This protein is widely expressed throughout vertebrate species. In humans and mice, it is encoded by the GATA1 and Gata1 genes, respectively. These genes are located on the X chromosome in both species.
Gene data
GATA1- Name
- GATA binding protein 1
- Type
- protein-coding
- Chromosome
- X
- Aliases
- CNSHA9, ERYF1, GATA-1, GF-1, GF1, HAEADA, NF-E1, NFE1, XLANP, XLTDA
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. [provided by RefSeq, Jul 2008].
via MyGene.info
Gene · Ensembl
GATA binding protein 1
- Symbol
- GATA1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- Chr X:48,783,122-48,794,311
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein GATA1 PDB 1gnf.png
Show 5 more facts
- HomoloGene ID
- 1549
- exact match
- identifiers.org/ncbigene/2623
- genomic start
- 48786540
- genomic end
- 48652716
- cytogenetic location
- Xp11.23
via Wikidata · CC0
~21 min read
Article
13 sectionsContents
- Gene
- GATA1 proteins
- Physiology and Pathology
- Genetic disorders
- Down syndrome-related disorders
- Transient myeloproliferative disorder
- Acute megakaryoblastic leukemia
- Diamond–Blackfan anemia
- Combined anemia-thrombocytopenia syndromes
- GATA1 in myelofibrosis
- References
- Further reading
- External links
GATA-binding factor 1 or GATA-1 (also termed Erythroid transcription factor) is the founding member of the GATA family of transcription factors. This protein is widely expressed throughout vertebrate species. In humans and mice, it is encoded by the GATA1 and Gata1 genes, respectively. These genes are located on the X chromosome in both species.
GATA1 regulates the expression (i.e. formation of the genes' products) of an ensemble of genes that mediate the development of red blood cells and platelets. Its critical roles in red blood cell formation include promoting the maturation of precursor cells, e.g. erythroblasts, to red blood cells and stimulating these cells to erect their cytoskeleton and biosynthesize their oxygen-carrying components viz., hemoglobin and heme. GATA1 plays a similarly critical role in the maturation of blood platelets from megakaryoblasts, promegakaryocytes, and megakaryocytes; the latter cells then shed membrane-enclosed fragments of their cytoplasm, i.e. platelets, into the blood.