{"entity":{"id":"gata1","kind":"target","name":"GATA1","aka":["GATA binding protein 1","Erythroid transcription factor","ERYF1","NFE1","GATA-1","NF-E1","GF1"],"tldr":"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.\n\nCIViC 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).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4170","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4170"},{"label":"UniProt P15976","url":"https://www.uniprot.org/uniprotkb/P15976/entry"},{"label":"NCBI Gene 2623","url":"https://www.ncbi.nlm.nih.gov/gene/2623"},{"label":"Ensembl ENSG00000102145","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000102145"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["myeloproliferative-neoplasms","leukaemia","skin-cancer","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"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."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GATA1","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4170","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4170","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P15976","url":"https://www.uniprot.org/uniprotkb/P15976/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene GATA1","url":"https://civicdb.org/features/2188","note":"2 evidence items, 0 assertions, 2 variants; diseases: Myeloid Leukaemia Associated With Down Syndrome, Transient Myeloproliferative Syndrome (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000102145","url":"https://platform.opentargets.org/target/ENSG00000102145/associations","note":"association with cancer (MONDO_0004992) 0.79; per-cancer scores at or above 0.5: acute myeloid leukaemia 0.69, skin cancer 0.55, myeloproliferative neoplasm 0.73, leukaemia 0.71 (GraphQL API, CC0)"}],"hgnc":"HGNC:4170","ensembl":"ENSG00000102145","uniprot":"P15976","entrez":"2623","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).","whereFound":["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)"],"targetClass":"transcription","prevalence":[]},"route":"/targets/gata1/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"aml","kind":"cancer","name":"Acute myeloid leukaemia","route":"/cancers/aml/"},{"id":"leukaemia","kind":"cancer","name":"Leukaemia (all types)","route":"/cancers/leukaemia/"},{"id":"myeloproliferative-neoplasms","kind":"cancer","name":"Myeloproliferative neoplasms (PV, ET, myelofibrosis)","route":"/cancers/myeloproliferative-neoplasms/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}]}}