GATA1
GATA Binding Protein 1 (Globin Transcription Factor 1)
Gene Information Card
| Symbol | GATA1 |
|---|---|
| Full Name | GATA binding protein 1 (globin transcription factor 1) |
| Gene Type | protein-coding |
| Chromosomal Location | Xp11.23 |
| NCBI Gene ID | 2623 ncbi.nlm.nih.gov/gene/2623 |
| Ensembl ID | ENSG00000102145 |
| UniProt ID | P15976 |
| OMIM ID | 305371 |
| HGNC ID | 4170 |
| Aliases | GF-1, GATA-1, ERYF1, NFE1 |
Description
GATA1 encodes a zinc-finger transcription factor essential for erythroid and megakaryocyte development. It regulates the expression of globin genes and other hematopoietic targets. Mutations in GATA1 cause X-linked disorders including Diamond-Blackfan anemia, X-linked thrombocytopenia with thalassemia, and are associated with acute megakaryoblastic leukemia in Down syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia (DBA) | Loss-of-function mutations in GATA1 impair erythroid progenitor differentiation, leading to defective erythropoiesis. | ClinVar, OMIM |
| X-linked thrombocytopenia with thalassemia | Missense mutations in the N-terminal zinc finger reduce GATA1 binding to FOG1, disrupting megakaryocyte and erythroid development. | OMIM, PubMed |
| Acute megakaryoblastic leukemia (AMKL) in Down syndrome | Somatic mutations (e.g., c.2T>C) produce a short GATA1 isoform (GATA1s) that blocks terminal differentiation of megakaryoblasts. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 78.5 | High |
| Spleen | 12.3 | Medium |
| Thymus | 5.1 | Low |
| Whole Blood | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (erythroleukemia) | 89.2 | High expression; used for erythroid differentiation studies |
| HEL (erythroleukemia) | 76.4 | High expression; megakaryocytic lineage |
| TF-1 (erythroblast) | 65.1 | High expression; erythropoietin-dependent |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2T>C (p.Met1?) | Splice site / initiation codon | Common in DS-AMKL | Generates truncated GATA1s isoform |
| c.220G>A (p.Val74Met) | Missense | Rare | Reduced DNA binding affinity |
| c.646C>T (p.Arg216Trp) | Missense | Rare | Impaired FOG1 interaction; X-linked thrombocytopenia |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that abolish full-length GATA1 protein, leading to Diamond-Blackfan anemia.
Gain of Function (GOF)
Not well documented; GATA1s isoform in DS-AMKL may act as a hypomorphic or neomorphic variant.
Dominant Negative (DN)
Missense mutations in the N-terminal zinc finger (e.g., p.Arg216Trp) that disrupt FOG1 binding while retaining DNA binding, interfering with wild-type GATA1 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Erythropoietin signaling pathway (Reactome: R-HSA-9006934)
• Transcriptional regulation by GATA1 (Reactome: R-HSA-9616222)
• Megakaryocyte development and platelet production (Reactome: R-HSA-983231)
Protein Summary
GATA1 is a 413-amino acid transcription factor with two zinc-finger domains. The N-terminal finger mediates interaction with the cofactor FOG1, while the C-terminal finger binds DNA at GATA motifs. It is essential for erythroid and megakaryocyte lineage commitment and differentiation. The protein is predominantly nuclear and activates genes such as HBB, GYPA, and ITGA2B.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GATA1 Knockout HEK293 Cell Line | EDJ-KQ4686 | Human | 2623 | Details Get a Quote |
| GATA1 Knockout HeLa Cell Line | EDJ-KQ53306 | Human | 2623 | Details Get a Quote |
| GATA1 Knockout A-549 Cell Line | EDJ-KQ61791 | Human | 2623 | Details Get a Quote |
| GATA1 Knockout HCT 116 Cell Line | EDJ-KQ70273 | Human | 2623 | Details Get a Quote |
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