GATA1

Chr XXLR

GATA binding protein 1

Also known as: CNSHA9, ERYF1, GATA-1, GF-1, GF1, HAEADA, NF-E1, NFE1

NCBI Gene: 2623ENSG00000102145UniProt: P15976OMIM: 305371

This transcription factor serves as a master regulator for red blood cell development and controls the switch from fetal to adult hemoglobin production. Mutations cause X-linked recessive hematologic disorders including dyserythropoietic anemia, thrombocytopenia, and beta-thalassemia, often presenting with combined blood cell abnormalities affecting red cells and platelets. The gene is highly constrained against loss-of-function variants (pLI 0.95, LOEUF 0.32), reflecting its critical role in hematopoiesis.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismXLRLOEUF 0.325 OMIM phenotypes
Clinical Summary— GATA1
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Gene-Disease Validity (ClinGen)
GATA1-Related X-Linked Cytopenia · XLDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.95). One damaged copy is likely sufficient to cause disease.
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Clinical Trials
2 active or recruiting trials — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.32LOEUF
pLI 0.948
Z-score 2.83
OE 0.00 (0.00–0.32)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
1.14Z-score
OE missense 0.76 (0.66–0.88)
133 obs / 175.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.00–0.32)
0≤0.351.4
Missense OE0.76 (0.66–0.88)
0≤0.61.4
Synonymous OE0.98
0≤1.21.6
LoF obs/exp: 0 / 9.3Missense obs/exp: 133 / 175.3Syn Z: 0.11
DN
0.3495th %ile
GOF
0.2994th %ile
LOF
0.88top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.32

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GATA1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients