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FLASH GENE
Symbol GATA1 contributors: mct/ - updated : 03-02-2012
HGNC name GATA binding protein 1 (globin transcription factor 1)
HGNC id 4170
Corresponding disease
AMKLDS acute megakaryoblastic leukemia, Down syndrome-related
CDATX dyserythropoietic anemia with thrombocytopenia
CEPX porphyria congenita erythropoietic, X-linked
XLTT thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
Location Xp11.23      Physical location : 48.644.981 - 48.652.715
Synonym name
  • erythroid transcription factor 1
  • NF-E1 DNA-binding protein
  • globin transcription factor 1
  • Synonym symbol(s) GF1, ERYF1, NFE1, GAT1, GATA-1
    DNA
    TYPE functioning gene
    STRUCTURE 7.74 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map pter - DXS6784 - DXS722 - GATA1 - DXS8281 - DXS1693 - cen
    Authors UCSC (2009)
    Physical map
    SSX1 Xp11.23-p11.22 synovial sarcoma, X breakpoint 1 psiSSX8 Xp11.2 psiSSX8 pseudogene SSX9 Xp11.23 synovial sarcoma, X breakpoint 9 psiSSX9 Xp11.2 SSX9 pseudogene SSX3 Xp11.2-p11.1 synovial sarcoma, X breakpoint 3 SSX4 Xp11.2-p11.1 synovial sarcoma, X breakpoint 4 SLC38A5 Xp11.23 solute carrier family 38, member 5 FTSJ1 Xp11.23 FtsJ homolog 1 (E. coli) PPN Xp11.23 likely ortholog of mouse porcupine homolog (Drosophila) EBP Xp11.23-p11.22 emopamil binding protein (sterol isomerase) OATL1 Xp11.23-p11.22 ornithine aminotransferase-like 1 RBM3 Xp11.23 RNA binding motif protein 3 MRPL32P1 Xq11.23 RNA binding motif protein 3 WDR13 Xp11.23 WD repeat domain 13 WAS Xp11.23-p11.22 Wiskott-Aldrich syndrome (eczema-thrombocytopenia) SUV39H1 Xp11.23 suppressor of variegation 3-9 homolog 1 (Drosophila) LOC392465 X similar to RIKEN cDNA 2010001H14 LOC389854 X similar to Acetyl-coenzyme A acyltransferase 2 GATA1 Xp11.23 GATA binding protein 1 (globin transcription factor 1) HDAC6 Xp11.23 histone deacetylase 6 ERAS Xpter-q26 ES cell expressed Ras PCSK1N Xp11.23 proprotein convertase subtilisin/kexin type 1 inhibitor TIMM17B Xp11.23 translocase of inner mitochondrial membrane 17 homolog B (yeast) PQBP1 Xp11.3 polyglutamine binding protein 1 SLC35A2 Xp11.23-p11.22 solute carrier family 35 (UDP-galactose transporter), member A2 PIM2 Xp11.3-p11.2 pim-2 oncogene DKFZp761A052 Xp11.23 hypothetical protein DKFZp761A052 KCND1 Xp11.23 potassium voltage-gated channel, Shal-related subfamily, member 1 GRIPAP1 Xp11 GRIP1 associated protein 1 TFE3 Xp11.23-p11.22 transcription factor binding to IGHM enhancer 3 JM11 Xp11.23 JM11 protein JM4 Xp11.23 JM11 protein JM5 Xp11.23 JM5 protein T54 Xp11.23 T54 protein FLJ21687 Xp11.23 PDZ domain containing, X chromosome
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 1501 42.8 413 - 2010 20679399
    also called variant 1L
    - initiation site - 40 330 - 2010 20679399
  • also called GATA1S
  • lacks 83 amino acids at the N-terminal region, i.e., the N-terminal transactivation domain
  • internal AUG codon
  • not sufficient to support normal erythropoiesis
  • normal DNA binding activity but a reduced transactivation potential, which is in agreement with the reported role of the N terminus as a transactivation domain
  • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland   highly
    Reproductivemale systemtestis   
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
     mast cell
    Blood/Hematopoieticeosinophil
    Blood/Hematopoieticerthrocyte
    Blood/Hematopoieticmegakaryocyte
    ReproductiveSertoli cell
    cell lineage hematopoietic progenitor cells
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a conserved multifunctional domain consisting of two GATA type zinc fingers
  • N-terminal activation domain
  • the N-terminal zinc finger (N-finger)
  • C-terminal zinc finger (C-finger) essential for GATA1 function, since it is responsible for the recognition of the GATA consensus sequence and consequent binding to DNA
  • HOMOLOGY
    Homologene
    FAMILY
  • GATA zinc finger transcription factor family
  • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,nucleus,nucleoplasm,nuclear bodies
    text
  • associated with a special class of nuclear bodies
  • export of GATA1 from the endoplasmic reticulum (ER) is contingent on its interaction with the COPII (coatomer protein-II) coat subunit SEC24D
  • basic FUNCTION
  • regulation of erythroid development and their critical genes, i.e the globin genes
  • playing a role in osteoblast differentiation
  • essential for terminal erythroid and megakaryocytic differentiation
  • involved in regulation of the switch from fetal to adult hemoglobin and in osteoblast differentiation
  • required with FLI1 for development of megakaryocytes
  • playing an essential role for normal erythropoiesis, also in eosinophil development, in the terminal differentiation of mast cells
  • with ZNF148, cooccupy cis-regulatory elements of certain erythroid and megakaryocyte-specific genes, including an enhancer of the GATA1 gene itself
  • activating transcription of the erythropoietin receptor (EPOR)
  • may be playing a role in globin switching
  • regulating the angiogenic factor AGGF1
  • master regulator of terminal differentiation of erythroid precursors
  • continuous presence of GATA1,ZFPM1, and NuRD is required to maintain lineage fidelity throughout megakaryocyte-erythroid ontogeny
  • role of GATA1 and IGF signaling in fetal megakaryopoiesis and leukemogenesis in Down syndrome
  • is a major determinant of BRD3 recruitment to genomic targets within chromatin
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component part of the DNA-binding complex containing LMO2, LDB1, TAL1, and GATA1
    INTERACTION
    DNA binding sequence
    RNA
    small molecule
    protein
  • FOG1 (in both megakaryocyte and erythrocyte development
  • interacting with ZNF145, coactivating thrombopoetin receptor and inducing megakaryocyte development
  • binding to the beta-globin locus
  • mediating with NFE2 the erythrocyte expression of alpha-spectrin
  • with Sp1 or EKLF (may play a crucial role in bringing regulatory elements such as enhancers in proximity to promoters by promoting the formation of DNA loops)
  • interacting with MED1(acting as a coactivator in erythroid development)
  • interacting with SPI1 (Ets domain of SPI1 and the GATA1 C-terminal zinc finger (CF) form a low affinity interaction in which specific regions of each protein are implicated)
  • GATA1 specifically associates with BCL11A in erythroid cells
  • combinatorial effect of Ikaros and GATA1 impairs close proximity between the locus control region and the gamma-globin genes and might represent an important mechanism of gene regulation during hematopoiesis
  • direct interaction of GATA1 with EHZF was demonstrated(EHZF modulates erythroid cell differentiation through direct binding with GATA1)
  • direct transcriptional target of TAp73alpha
  • HMG2B potentiates GATA1-dependent transcription of GFI1B by POU5F1 and thereby controls erythroid differentiation
  • interaction between GATA1 and ZFPM1 is critical for the development of both erythroid and megakaryocytic cell lineages
  • functional relationship between GATA1 and DMRT1, coexpressed in Sertoli cells
  • is a functionally important target gene of SUPT5H
  • interacting with BRD3, and this interaction is essential for the targeting of GATA1 to chromatin
  • BRD3 binds via its first bromodomain (BD1) to GATA1 in an acetylation-dependent manner
  • utilizes IKAROS and polycomb repressive complex 2 to suppress HES1 and to promote erythropoiesis
  • CDC6 expression is regulated by lineage-specific transcription factor GATA1
  • MED1 is a context-dependent GATA1 coregulator, and also exerts specialized functions in erythroid cells to control GATA1-independent, cell-type-specific genes, which include candidate regulators of erythroid cell development and function
  • cell & other
    REGULATION
    activated by erythropoietin
    inhibited by inactivated by coactivation of DEATH receptors (TNFRSF6) mediated caspase cleavage
    ASSOCIATED DISORDERS
    corresponding disease(s) CDATX , CEPX , AMKLDS , XLTT
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation      
    in acute megakaryoblastic leukemia of Down syndrome
    constitutional germinal mutation      
    mutation, 332G --> C, in exon 2 of GATA1, leading to the synthesis of only the short isoform, leading by normal male to macrocytic anemia, normal platelet counts and neutropenia
    tumoral somatic mutation      
    associated with the myeloproliferative syndrome, transient (TAM) and the acute megakaryoblastic leukemia (AMKL) of Down syndrome
    tumoral fusion      
    MYB-GATA1 fusion gene in acute basophilic leukemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS