# GATA1

Source: https://onco.cc/targets/gata1/  
OnCo record `gata1` (Target). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

GATA1 (Erythroid transcription factor) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Myeloproliferative neoplasms, Leukaemia, Skin cancer and 1 more.

## Summary

Transcriptional activator or repressor which serves as a general switch factor for erythroid development. It binds to DNA sites with the consensus sequence 5'-[AT]GATA[AG]-3' within regulatory regions of globin genes and of other genes expressed in erythroid cells. Activates the transcription of genes involved in erythroid differentiation of K562 erythroleukemia cells, including HBB, HBG1/2, ALAS2 and HMBS.

CIViC holds 2 clinical evidence items and 0 assertions across 2 variants. Open Targets scores its association with cancer at 0.79 (direct and indirect evidence; datatypes genetic literature 0.76, affected pathway 0.32, literature 0.96, genetic association 0.29, somatic mutation 0.94, animal model 0.71).

## Fields

- Kind: Target
- Last checked: 2026-09-23
- Also known as: GATA binding protein 1; Erythroid transcription factor; ERYF1; NFE1; GATA-1; NF-E1; GF1
- Tags: cancer-genes-wave
- Symbol: GATA1
- Class: transcription
- Biology: Transcriptional activator or repressor which serves as a general switch factor for erythroid development. It binds to DNA sites with the consensus sequence 5'-[AT]GATA[AG]-3' within regulatory regions of globin genes and of other genes expressed in erythroid cells. Activates the transcription of genes involved in erythroid differentiation of K562 erythroleukemia cells, including HBB, HBG1/2, ALAS2 and HMBS. Location: Nucleus (UniProt). Locus Xp11.23 (HGNC).
- Where found: Myeloproliferative neoplasms: Open Targets association 0.73 with myeloproliferative neoplasm (MONDO_0020076); Leukaemia: Open Targets association 0.71 with leukaemia (MONDO_0005059); Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898); Acute myeloid leukaemia: Open Targets association 0.69 with acute myeloid leukaemia (MONDO_0018874)

## Notes

- Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 2 clinical evidence items on its variants. Evidence tier "clinical-evidence" is the strongest of those signals.
- Prevalence not recorded: none of the sources gives a positivity rate.
- Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Myeloid Leukaemia Associated With Down Syndrome; Transient Myeloproliferative Syndrome.

## Sources

- HGNC HGNC:4170: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4170
- UniProt P15976: https://www.uniprot.org/uniprotkb/P15976/entry
- NCBI Gene 2623: https://www.ncbi.nlm.nih.gov/gene/2623
- Ensembl ENSG00000102145: https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000102145

## Connected records

- collections: [CIViC](https://onco.cc/collections/civic/), [Open Targets Platform](https://onco.cc/collections/open-targets/)
- cancers: [Acute myeloid leukaemia](https://onco.cc/cancers/aml/), [Leukaemia (all types)](https://onco.cc/cancers/leukaemia/), [Myeloproliferative neoplasms (PV, ET, myelofibrosis)](https://onco.cc/cancers/myeloproliferative-neoplasms/), [Skin cancer (all types)](https://onco.cc/cancers/skin-cancer/)

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