GATA1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | GATA1 |
| Official Name | GATA binding protein 1 [Source:HGNC Symbol;Acc:HGNC:4170] |
| Ensembl ID | ENSG00000102145 |
| Bio databases IDs | |
| Aliases | GATA binding protein 1, nuclear factor, erythroid 1 |
| Synonyms | CNSHA9, ERYF1, GATA binding protein 1, GF-1, globin transcription factor 1, HAEADA, LOC108348091, NF-E1, XLANP, XLTDA, XLTT |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GATA1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- zinc finger DNA binding domain
- activation domain
- transcription regulator
- DNA binding domain
- nucleic acid binding
- nuclear localization sequence
- transcription activation domain
- transcription factor binding
- chromatin binding
- protein domain specific binding
- p53 binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- carboxy finger domain
- zinc finger binding to DNA consensus sequence [AT]GATA[AG]
- zinc finger domain
- transcription factor activity
- ZnF_GATA
- amino finger domain
Pathways
Biological processes and signaling networks where the GATA1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- hyperplasia
- myelofibrosis
- X-linked thrombocytopenia with dyserythropoietic anemia
- X-linked thrombocytopenia
- Down syndrome
- transient leukemia
- Down syndrome related acute megakaryoblastic leukemia
- hemolytic anemia due to elevated adenosine deaminase
- GATA1-related X-linked cytopenia
role in cell
- apoptosis
- activation in
- expression in
- growth
- transcription in
- proliferation
- differentiation
- phosphorylation in
- migration
- quantity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- Cytoplasm
- nuclear foci
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GATA1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of mast cell degranulation
- male gonad development
- negative regulation of cell proliferation
- transcription from RNA polymerase II promoter
- Sertoli cell development
- positive regulation of transcription from RNA polymerase II promoter
- positive regulation of erythrocyte differentiation
- cellular response to follicle-stimulating hormone stimulus
- negative regulation of transcription from RNA polymerase II promoter
- negative regulation of bone mineralization
- in utero embryonic development
- positive regulation of transcription, DNA-dependent
- regulation of glycoprotein biosynthetic process
- dendritic cell differentiation
- platelet formation
- eosinophil differentiation
- basophil differentiation
- negative regulation of transcription regulatory region DNA binding
- platelet aggregation
- positive regulation of peptidyl-tyrosine phosphorylation
- eosinophil fate commitment
- positive regulation of osteoblast proliferation
- negative regulation of extrinsic apoptotic signaling pathway in absence of ligand
- bone mineralization
- negative regulation of myeloid cell apoptotic process
- cell-cell signaling
- erythrocyte development
- primitive erythrocyte differentiation
- elevation of cytosolic calcium ion concentration
- megakaryocyte differentiation
- erythrocyte differentiation
- regulation of primitive erythrocyte differentiation
- cellular response to lipopolysaccharide
- regulation of definitive erythrocyte differentiation
- homeostasis of number of cells within a tissue
- negative regulation of apoptotic process
- cellular response to cAMP
- cell fate commitment
- osteoblast proliferation
- organ regeneration
- myeloid cell apoptotic process
Cellular Component
Where in the cell the gene product is active
- transcription factor complex
- nucleus
- transcriptional repressor complex
- protein-DNA complex
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- chromatin DNA binding
- zinc ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding
- transcription coactivator binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- transcription cofactor binding
- DNA binding
- sequence-specific DNA binding transcription factor activity
- p53 binding
- protein binding
- C2H2 zinc finger domain binding