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Gene

GATA1

GATA binding protein 1

Summary

Cytogenetic location
Xp11.23
Coordinates
Chromosome X: 48,786,590–48,794,311 (GRCh38)
Exons
6 exons across 7.7 kb
Protein
413 amino acids
Inheritance
Autosomal dominant
Also known as
ERYF1, NFE1, GATA-1, NF-E1
Previous symbols
GF1
MANE Select transcript
ENST00000376670.9NM_002049.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Diamond-Blackfan Anemia

    • Autosomal dominant

      A congenital aregenerative and often macrocytic anemia with erythroblastopenia.

      • 1 GenCC submitter rates it definitive or strong

  • Inherited Thrombocytopenias

    • Inherited Thrombocytopenia

      A group of conditions causing a lifelong low platelet count, linked to genes such as MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 and MECOM, and inherited in dominant, recessive or X-linked patterns.

      • ClinGen rates the link definitive
      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      A genetic diagnosis avoids misdiagnosis as immune thrombocytopenia, with unnecessary steroids or spleen removal, and guides monitoring for related kidney, hearing or blood problems.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How GATA1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome X, with a bracket where GATA1 sits. GATA1 and 39 genes near it on chromosome X, from 48,290,451 to 49,290,450.Chromosome XXp11.23p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2848.4 Mb48.6 Mb48.8 Mb49 Mb49.2 MbSSX3: 48,337,725–48,356,750, reverse strandSSX3SSX4: 48,383,516–48,393,347, forward strandSSX4SSX4B: 48,402,082–48,411,960, reverse strandSSX4BSLC38A5: 48,458,536–48,470,554, reverse strandSLC38A5FTSJ1: 48,476,021–48,486,364, forward strandFTSJ1PORCN: 48,508,574–48,520,814, forward strandPORCNEBP: 48,521,089–48,528,716, forward strandEBP: 48,521,806–48,545,469, forward strandTBC1D25: 48,539,623–48,562,613, forward strandTBC1D25RBM3: 48,574,056–48,581,162, forward strandRBM3WDR13: 48,589,838–48,608,869, forward strandWDR13WAS: 48,676,593–48,691,431, forward strandWASSUV39H1: 48,695,554–48,709,556, forward strandSUV39H1GLOD5: 48,761,744–48,773,648, forward strandGLOD5GATA1: 48,786,590–48,794,311, forward strandGATA1HDAC6: 48,801,372–48,824,986, forward strandHDAC6ERAS: 48,826,513–48,830,138, forward strandERASPCSK1N: 48,831,088–48,835,632, reverse strandPCSK1NTIMM17B: 48,880,274–48,898,143, reverse strandTIMM17BPQBP1: 48,890,197–48,903,640, forward strandPQBP1SLC35A2: 48,903,180–48,911,958, reverse strandSLC35A2PIM2: 48,913,172–48,919,546, reverse strandPIM2OTUD5: 48,922,024–48,958,390, reverse strandKCND1: 48,960,982–48,971,916, reverse strandKCND1GRIPAP1: 48,973,719–49,002,265, reverse strandGRIPAP1TFE3: 49,028,726–49,043,512, reverse strandTFE3CCDC120: 49,053,463–49,073,357, forward strandCCDC120PRAF2: 49,070,107–49,074,022, reverse strandPRAF2: 49,071,470–49,079,887, reverse strandWDR45: 49,074,431–49,101,203, reverse strandWDR45GPKOW: 49,112,941–49,123,750, reverse strandGPKOWMAGIX: 49,162,564–49,169,931, forward strandMAGIXPLP2: 49,171,787–49,175,387, forward strandPLP2PRICKLE3: 49,174,802–49,186,528, reverse strandPRICKLE3SYP: 49,187,807–49,200,218, reverse strandSYPCACNA1F: 49,205,063–49,233,371, reverse strandCCDC22: 49,235,444–49,250,526, forward strandCCDC22FOXP3: 49,250,436–49,264,800, reverse strandFOXP3: 49,258,343–49,270,477, reverse strandPPP1R3F: 49,269,771–49,301,468, forward strandPPP1R3FDiagram of GATA1: 6 exons on the forward strand of chromosome XExon 2: 35 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 1: 48,786,590–48,786,645, 56 basesExon 2: 48,791,091–48,791,329, 239 basesExon 3: 48,791,844–48,792,221, 378 basesExon 4: 48,792,323–48,792,468, 146 basesExon 5: 48,793,172–48,793,297, 126 basesExon 6: 48,793,793–48,794,311, 519 bases1234565′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.5 kb of the gene's 7.7 kb; 1,242 of those bases code for the protein.

How a genome test reads GATA1

49

positions in GATA1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 7.7 kb of GATA1, introns included, not only the 1.5 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). GATA1 gene: GATA binding protein 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/gata1

Vancouver

Dante Labs. GATA1 gene: GATA binding protein 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/gata1

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