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Gene: GATA1 (GATA binding protein 1) Homo sapiens
Symbol: GATA1
Name: GATA binding protein 1
CRRD ID: 731384
Description: Exhibits several functions, including C2H2 zinc finger domain binding activity; DNA binding activity; and DNA-binding transcription activator activity, RNA polymerase II-specific. Involved in several processes, including myeloid cell differentiation; regulation of cellular macromolecule biosynthetic process; and regulation of erythrocyte differentiation. Localizes to nucleoplasm; protein-DNA complex; and transcription repressor complex. Implicated in Down syndrome; X-linked thrombocytopenia with beta-thalassemia; beta thalassemia; and transient myeloproliferative syndrome. Biomarker of acute myeloid leukemia; major depressive disorder; myelodysplastic syndrome; and myelofibrosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ERYF1; erythroid transcription factor; erythroid transcription factor 1; GATA binding protein 1 (globin transcription factor 1); GATA-1; GATA-binding factor 1; GF-1; GF1; globin transcription factor 1; NF-E1; NF-E1 DNA-binding protein; NFE1; nuclear factor, erythroid 1; transcription factor GATA1; XLANP; XLTDA; XLTT
Mus musculus (house mouse) : Gata1 (GATA binding protein 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Gata1 (GATA binding protein 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Gata1 (GATA binding protein 1)
Pan paniscus (bonobo/pygmy chimpanzee) : GATA1 (GATA binding protein 1)
Canis lupus familiaris (dog) : GATA1 (GATA binding protein 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Gata1 (GATA binding protein 1)
Sus scrofa (pig) : GATA1 (GATA binding protein 1)
Chlorocebus sabaeus (African green monkey) : GATA1 (GATA binding protein 1)
Heterocephalus glaber (naked mole-rat) : Gata1 (GATA binding protein 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38.p13 EnsemblX48,786,562 - 48,794,311 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX48,786,554 - 48,794,311 (+)EnsemblGRCh38hg38GRCh38
GRCh38X48,786,540 - 48,794,311 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X48,644,982 - 48,652,718 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,529,906 - 48,537,662 (+)NCBINCBI36hg18NCBI36
Build 34X48,401,209 - 48,408,964NCBI
CeleraX53,010,810 - 53,018,547 (-)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,304,230 - 46,311,086 (+)NCBIHuRef
CHM1_1X48,676,125 - 48,683,862 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


RNA-SEQ Expression


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on GATA1
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 731384
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2020-11-03
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.