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GATA1 (GATA binding protein 1 (globin transcription factor1))

Written2005-02Shai Izraeli
Pediatric Hemato-Oncology, Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel 52621
Updated2019-07Winston Y. Lee, Olga K. Weinberg
Lee, WY : Department of Pathology, University of Michigan Medical School, Ann Arbor, MI, (WYL); Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, (OKW) USA

Abstract We provide a survey of the disease entities associated with GATA1 mutations.

Keywords GATA1; Transcription; Hematopoiesis; erythroid development; megakaryocytic development; Down syndrome; Transient abnormal myelopoiesis associated with Down Syndrome; Myeloid leukemia associated with Down syndrome; Diamond-Blackfan anemia; Dyserythropoietic anemia

(Note : for Links provided by Atlas : click)

Identity

Alias_namesGF1
GATA-binding protein 1 (globin transcription factor 1)
globin transcription factor 1
Alias_symbol (synonym)ERYF1
NFE1
GATA-1
NF-E1
Other alias
HGNC (Hugo) GATA1
LocusID (NCBI) 2623
Atlas_Id 40689
Location Xp11.23  [Link to chromosome band Xp11]
Location_base_pair Starts at 48786574 and ends at 48794310 bp from pter ( according to hg19-Feb_2009)  [Mapping GATA1.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
HBA1 (16p13.3) / GATA1 (Xp11.23)MYB (6q23.3) / GATA1 (Xp11.23)

DNA/RNA

Description Genomic sequence 7,757 bases, mRNA six exons (five coding); Plus strand
Transcription mRNA 1497bp

Protein

 
  Alternative models for generation of GATA1 isoforms. The full GATA1 protein can only be translated from the full GATA1 mRNA, whereas the GATA1s protein can be translated either from the full gata-1mRNA or from the shorter splice variant in which exon 2 is skipped.
Description GATA1 is physiologically present as two protein isoforms that are derived from alternative splicing of the mRNA and the usage of an alternative translation initiation sites as shown in the Figure. The full length GATA1 protein is comprised of 413 amino acids with a predicted molecular weight of 42.7 KDa. The shorter form of the GATA1 protein (GATA1s) lacks the first 83 amino acid residues, which contains the so-called N-terminal activation domain (AD) (Gruber TA et al., 2015). Both proteins contain two Zinc finger domains mediating protein interactions and DNA binding. The expression level and ratio of both GATA1 isoforms are thought to be important in directing the appropriate erythromegakaryocytic development.
Expression Bone marrow: erythroid, megakaryocytic, mast cell and eosonophillic precursors. Testis: Sertoli cells
Localisation Nuclear
Function Transcription Factor, essential for erythroid and megakaryocytic development
Homology A member of the GATA-binding factor (GATA) family.

Mutations

Germinal Implicated dyserythropoietic anemia with thrombocytopenia/ Macrothrombocytopenia. and in Diamond-Blackfan anemia
Somatic Myeloid proliferation associated with Down syndrome, including:
  • transient abnormal myelopoiesis associated with Down syndrome, and
  • myeloid leukemia associated with Down syndrome
  • Implicated in

    Note
      
    Entity Myeloid proliferation associated with Down syndrome, including transient abnormal myelopoiesis associated with Down Syndrome and myeloid leukemia associated with Down syndrome
    Note Acquired somatic mutations resulting in the exclusive production of the short-form GATA1 protein (GATA1s) are pathognomonic in myeloid proliferation associated with Down syndrome (MP-DS) (Ahmed M et al, 2004; Groet J et al, 2003; Rainis L et al, 2003; Wechsler J et al, 2002). These mutations are often in the forms of nonsense or frame-shift mutations that result in premature stop codons in exon 2 or 3, while sparing the alternative start codon further downstream in the exon 3. GATA1 mutations can be detected in umbilical cord blood of DS patients and in fetal liver of aborted DS embryos; therefore, these mutations are thought to occur in-utero, likely during fetal liver hematopoiesis (Ahmed M et al, 2004; Taub JW et al, 2004). The presence of GATA1s in the absence of full length GATA1 is thought to block megakaryocytic differentiation and promote the proliferation of megakaryoblasts (Vyas P et al, 1999; Li Z et al, 2005; Lee WY et al, 2018). This disease entity only occurs in DS patients; however, the genes on chromosome 21 that enables the development of this disease are not known. MP-DS mostly occurs in children with DS younger than 5 years of age and manifests initially as transient abnormal myelopoiesis (TAM) within 7 days of birth. TAM is characterized by increased circulating megakaryocytic blasts, thrombocytopenia, and leukocytosis. The majority of cases of TAM undergo clonal extinction and spontaneously remit. However, about a third of the cases eventually recur within 3 years as myeloid leukemia associated with Down syndrome (ML-DS), which phenotypically resembles acute megakaryocytic leukemia and requires therapy. Next generation sequencing studies comparing the genomic landscape of TAM and ML-DS have established the GATA1 mutations as the 'first-hit' mutations that presents phenotypically as TAM, and the subsequent gain of additional hits leads to the progression as ML-DS (Nikolaev SI et al, 2013; Yoshida K et al, 2013).
     
    Example to the distribution of the mutations in children with M7 and DS described in Rainis et al.
      
      
    Entity Diamond-Blackfan anemia
    Disease Diamond-Blackfan anemia (DBA) is a congenital condition characterized by isolated erythroid hypoplasia. Approximately half of the DBA cases are associated with germline mutations that result in haploinsufficiency of ribosomal proteins. A smaller subset of DBA cases, all of which are X-linked, is associated with germline GATA1 mutations, including substitution or splice site mutations involving exon 2 or 3 (Ludwig LS et al, 2014; Parrella S et al, 2014; Klar J et al, 2014; Sankaran VG, 2012). These mutations, similar to those seen in MP-DS (see above), create missense or nonsense mutations at the first start codon or premature stop codons before the second alternative start codon, thereby precluding the production of the full length GATA1 and leading to the exclusive production of the short form of GATA1 (GATA1s). Interestingly, several studies have suggested that in DBA with ribosomal protein haploinsufficiency exhibits altered translation of GATA1 mRNA, providing a possible converging mechanism of DBA (Ludwig LS et al, 2014; Khajuria RK et al, 2018).
      
      
    Entity Dyserythropoietic anemia
    Note Dyserythropoietic anemia (DA), is a rare congenital red blood cell disorder characterized by anemia with erythrodysplasia (often abnormal forms with multinucleated nuclei) and varying degrees of macrothrombocytopenia with dysplastic megakaryocytes. There are several isolated case reports describing the roles of GATA1 mutations in a subset of DA, which often presents as severe fetal anemia requiring intrauterine transfusion (Zucker J et al , 2016; Abdulhay NJ et al, 2019; Kratz CP et al, 2008; Freson K et al, 2002; Nichols KE et al, 2000; Del Vecchio GC et al, 2005). Based on the limited case reports, there appears to be two different classes of GATA1 mutations that can cause DA. The first class of mutations (such as, V205M, G208R, and D218Y/G) appears to affect interaction with FOG-1 (Friends of GATA1), a transcriptional co-factor required for normal erythroid and megakaryocytic differentiation. The second class of mutations appears to affect the splicing of GATA1 transcripts that result in the preferential production of the short form of GATA1 protein, in a similar manner seen in DBA (see above). Mutations altering the pattern of splicing were described to involve the 5' untranslated region and in the fifth intron. Of note, these cases are distinctly different from congenital dyserythropoietic anemia type I, II, and III. Some have proposed to include the GATA1 mutated DA cases as congenital dyserythropoietic anemia variants.
      

    Bibliography

    Impaired human hematopoiesis due to a cryptic intronic GATA1 splicing mutation
    Abdulhay NJ, Fiorini C, Verboon JM, Ludwig LS, Ulirsch JC, Zieger B, Lareau CA, Mi X, Roy A, Obeng EA, Erlacher M, Gupta N, Gabriel SB, Ebert BL, Niemeyer CM, Khoriaty RN, Ancliff P, Gazda HT, Wlodarski MW, Sankaran VG
    J Exp Med 2019 May 6;216(5):1050-1060
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    Natural history of GATA1 mutations in Down syndrome
    Ahmed M, Sternberg A, Hall G, Thomas A, Smith O, O'Marcaigh A, Wynn R, Stevens R, Addison M, King D, Stewart B, Gibson B, Roberts I, Vyas P
    Blood 2004 Apr 1;103(7):2480-9
    PMID 14656875
     
    Dyserythropoietic anemia and thrombocytopenia due to a novel mutation in GATA-1
    Del Vecchio GC, Giordani L, De Santis A, De Mattia D
    Acta Haematol 2005;114(2):113-6
    PMID 16103636
     
    Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation
    Freson K, Matthijs G, Thys C, Mariün P, Hoylaerts MF, Vermylen J, Van Geet C
    Hum Mol Genet 2002 Jan 15;11(2):147-52
    PMID 11809723
     
    The role of cytidine deaminase and GATA1 mutations in the increased cytosine arabinoside sensitivity of Down syndrome myeloblasts and leukemia cell lines
    Ge Y, Jensen TL, Stout ML, Flatley RM, Grohar PJ, Ravindranath Y, Matherly LH, Taub JW
    Cancer Res 2004 Jan 15;64(2):728-35
    PMID 14744791
     
    Acquired mutations in GATA1 in neonates with Down's syndrome with transient myeloid disorder
    Groet J, McElwaine S, Spinelli M, Rinaldi A, Burtscher I, Mulligan C, Mensah A, Cavani S, Dagna-Bricarelli F, Basso G, Cotter FE, Nizetic D
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    PMID 12747884
     
    The biology of pediatric acute megakaryoblastic leukemia
    Gruber TA, Downing JR
    Blood 2015 Aug 20;126(8):943-9
    PMID 26186939
     
    Recent insights into the mechanisms of myeloid leukemogenesis in Down syndrome
    Gurbuxani S, Vyas P, Crispino JD
    Blood 2004 Jan 15;103(2):399-406
    PMID 14512321
     
    The GATA1 mutation in an adult patient with acute megakaryoblastic leukemia not accompanying Down syndrome
    Harigae H, Xu G, Sugawara T, Ishikawa I, Toki T, Ito E
    Blood 2004 Apr 15;103(8):3242-3
    PMID 15070711
     
    Origins of leukaemia in children with Down syndrome
    Hitzler JK, Zipursky A
    Nat Rev Cancer 2005 Jan;5(1):11-20
    PMID 15630411
     
    Congenital dyserythropoietic anemias: molecular insights and diagnostic approach
    Iolascon A, Heimpel H, Wahlin A, Tamary H
    Blood 2013 Sep 26;122(13):2162-6
    PMID 23940284
     
    Leukaemia -- a developmental perspective
    Izraeli S
    Br J Haematol 2004 Jul;126(1):3-10
    PMID 15198727
     
    Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis
    Khajuria RK, Munschauer M, Ulirsch JC, Fiorini C, Ludwig LS, McFarland SK, Abdulhay NJ, Specht H, Keshishian H, Mani DR, Jovanovic M, Ellis SR, Fulco CP, Engreitz JM, Schütz S, Lian J, Gripp KW, Weinberg OK, Pinkus GS, Gehrke L, Regev A, Lander ES, Gazda HT, Lee WY, Panse VG, Carr SA, Sankaran VG
    Cell 2018 Mar 22;173(1):90-103
    PMID 29551269
     
    Recurrent GATA1 mutations in Diamond-Blackfan anaemia
    Klar J, Khalfallah A, Arzoo PS, Gazda HT, Dahl N
    Br J Haematol 2014 Sep;166(6):949-51
    PMID 24766296
     
    Congenital transfusion-dependent anemia and thrombocytopenia with myelodysplasia due to a recurrent GATA1(G208R) germline mutation
    Kratz CP, Niemeyer CM, Karow A, Volz-Fleckenstein M, Schmitt-Gräff A, Strahm B
    Leukemia 2008 Feb;22(2):432-4
    PMID 17713552
     
    Loss of Full-Length GATA1 Expression in Megakaryocytes Is a Sensitive and Specific Immunohistochemical Marker for the Diagnosis of Myeloid Proliferative Disorder Related to Down Syndrome
    Lee WY, Weinberg OK, Evans AG, Pinkus GS
    Am J Clin Pathol 2018 Mar 7;149(4):300-309
    PMID 29481579
     
    Developmental stage-selective effect of somatically mutated leukemogenic transcription factor GATA1
    Li Z, Godinho FJ, Klusmann JH, Garriga-Canut M, Yu C, Orkin SH
    Nat Genet 2005 Jun;37(6):613-9
    PMID 15895080
     
    A leukemogenic twist for GATA1
    Look AT
    Nat Genet 2002 Sep;32(1):83-4
    PMID 12172549
     
    Altered translation of GATA1 in Diamond-Blackfan anemia
    Ludwig LS, Gazda HT, Eng JC, Eichhorn SW, Thiru P, Ghazvinian R, George TI, Gotlib JR, Beggs AH, Sieff CA, Lodish HF, Lander ES, Sankaran VG
    Nat Med 2014 Jul;20(7):748-53
    PMID 24952648
     
    Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1
    Nichols KE, Crispino JD, Poncz M, White JG, Orkin SH, Maris JM, Weiss MJ
    Nat Genet 2000 Mar;24(3):266-70
    PMID 10700180
     
    Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome
    Nikolaev SI, Santoni F, Vannier A, Falconnet E, Giarin E, Basso G, Hoischen A, Veltman JA, Groet J, Nizetic D, Antonarakis SE
    Blood 2013 Jul 25;122(4):554-61
    PMID 23733339
     
    Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype
    Parrella S, Aspesi A, Quarello P, Garelli E, Pavesi E, Carando A, Nardi M, Ellis SR, Ramenghi U, Dianzani I
    Pediatr Blood Cancer 2014 Jul;61(7):1319-21
    PMID 24453067
     
    Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21
    Rainis L, Bercovich D, Strehl S, Teigler-Schlegel A, Stark B, Trka J, Amariglio N, Biondi A, Muler I, Rechavi G, Kempski H, Haas OA, Izraeli S
    Blood 2003 Aug 1;102(3):981-6
    PMID 12649131
     
    Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia
    Sankaran VG, Ghazvinian R, Do R, Thiru P, Vergilio JA, Beggs AH, Sieff CA, Orkin SH, Nathan DG, Lander ES, Gazda HT
    J Clin Invest 2012 Jul;122(7):2439-43
    PMID 22706301
     
    Prenatal origin of GATA1 mutations may be an initiating step in the development of megakaryocytic leukemia in Down syndrome
    Taub JW, Mundschau G, Ge Y, Poulik JM, Qureshi F, Jensen T, James SJ, Matherly LH, Wechsler J, Crispino JD
    Blood 2004 Sep 1;104(5):1588-9
    PMID 15317736
     
    Consequences of GATA-1 deficiency in megakaryocytes and platelets
    Vyas P, Ault K, Jackson CW, Orkin SH, Shivdasani RA
    Blood 1999 May 1;93(9):2867-75
    PMID 10216081
     
    Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome
    Wechsler J, Greene M, McDevitt MA, Anastasi J, Karp JE, Le Beau MM, Crispino JD
    Nat Genet 2002 Sep;32(1):148-52
    PMID 12172547
     
    The landscape of somatic mutations in Down syndrome-related myeloid disorders
    Yoshida K, Toki T, Okuno Y, Kanezaki R, Shiraishi Y, Sato-Otsubo A, Sanada M, Park MJ, Terui K, Suzuki H, Kon A, Nagata Y, Sato Y, Wang R, Shiba N, Chiba K, Tanaka H, Hama A, Muramatsu H, Hasegawa D, Nakamura K, Kanegane H, Tsukamoto K, Adachi S, Kawakami K, Kato K, Nishimura R, Izraeli S, Hayashi Y, Miyano S, Kojima S, Ito E, Ogawa S
    Nat Genet 2013 Nov;45(11):1293-9
    PMID 24056718
     
    A Child With Dyserythropoietic Anemia and Megakaryocyte Dysplasia Due to a Novel 5'UTR GATA1s Splice Mutation
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    Pediatr Blood Cancer 2016 May;63(5):917-21
    PMID 26713410
     

    Citation

    This paper should be referenced as such :
    Lee WY, Weinberg O.
    GATA1 (GATA binding protein 1 (globin transcription factor1));
    Atlas Genet Cytogenet Oncol Haematol. in press
    On line version : http://AtlasGeneticsOncology.org/Genes/GATA1ID40689chXp11.html
    History of this paper:
    Izraeli, S. GATA1 (GATA binding protein 1 (globin transcription factor1)). Atlas Genet Cytogenet Oncol Haematol. 2005;9(2):117-118.
    http://documents.irevues.inist.fr/bitstream/handle/2042/38177/02-2005-GATA1ID40689chXp11.pdf


    Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
      Acute basophilic leukemia::t(X;6)(p11;q23) MYB/GATA1
    Myeloid proliferations in Down syndrome


    External links

    Nomenclature
    HGNC (Hugo)GATA1   4170
    LRG (Locus Reference Genomic)LRG_559
    Cards
    AtlasGATA1ID40689chXp11
    Entrez_Gene (NCBI)GATA1  2623  GATA binding protein 1
    AliasesERYF1; GATA-1; GF-1; GF1; 
    NF-E1; NFE1; XLANP; XLTDA; XLTT
    GeneCards (Weizmann)GATA1
    Ensembl hg19 (Hinxton)ENSG00000102145 [Gene_View]
    Ensembl hg38 (Hinxton)ENSG00000102145 [Gene_View]  ENSG00000102145 [Sequence]  chrX:48786574-48794310 [Contig_View]  GATA1 [Vega]
    ICGC DataPortalENSG00000102145
    TCGA cBioPortalGATA1
    AceView (NCBI)GATA1
    Genatlas (Paris)GATA1
    WikiGenes2623
    SOURCE (Princeton)GATA1
    Genetics Home Reference (NIH)GATA1
    Genomic and cartography
    GoldenPath hg38 (UCSC)GATA1  -     chrX:48786574-48794310 +  Xp11.23   [Description]    (hg38-Dec_2013)
    GoldenPath hg19 (UCSC)GATA1  -     Xp11.23   [Description]    (hg19-Feb_2009)
    GoldenPathGATA1 - Xp11.23 [CytoView hg19]  GATA1 - Xp11.23 [CytoView hg38]
    ImmunoBaseENSG00000102145
    Mapping of homologs : NCBIGATA1 [Mapview hg19]  GATA1 [Mapview hg38]
    OMIM190685   300367   300835   305371   314050   
    Gene and transcription
    Genbank (Entrez)AI057349 BC009797 M30601 X17254
    RefSeq transcript (Entrez)NM_002049
    RefSeq genomic (Entrez)
    Consensus coding sequences : CCDS (NCBI)GATA1
    Cluster EST : UnigeneHs.765 [ NCBI ]
    CGAP (NCI)Hs.765
    Alternative Splicing GalleryENSG00000102145
    Gene ExpressionGATA1 [ NCBI-GEO ]   GATA1 [ EBI - ARRAY_EXPRESS ]   GATA1 [ SEEK ]   GATA1 [ MEM ]
    Gene Expression Viewer (FireBrowse)GATA1 [ Firebrowse - Broad ]
    SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
    GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
    BioGPS (Tissue expression)2623
    GTEX Portal (Tissue expression)GATA1
    Human Protein AtlasENSG00000102145-GATA1 [pathology]   [cell]   [tissue]
    Protein : pattern, domain, 3D structure
    UniProt/SwissProtP15976   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
    NextProtP15976  [Sequence]  [Exons]  [Medical]  [Publications]
    With graphics : InterProP15976
    Splice isoforms : SwissVarP15976
    PhosPhoSitePlusP15976
    Domaine pattern : Prosite (Expaxy)GATA_ZN_FINGER_1 (PS00344)    GATA_ZN_FINGER_2 (PS50114)   
    Domains : Interpro (EBI)GATA-1    Znf_GATA    Znf_NHR/GATA   
    Domain families : Pfam (Sanger)GATA (PF00320)   
    Domain families : Pfam (NCBI)pfam00320   
    Domain families : Smart (EMBL)ZnF_GATA (SM00401)  
    Conserved Domain (NCBI)GATA1
    DMDM Disease mutations2623
    Blocks (Seattle)GATA1
    SuperfamilyP15976
    Human Protein Atlas [tissue]ENSG00000102145-GATA1 [tissue]
    Peptide AtlasP15976
    HPRD02372
    IPIIPI00013999   IPI01014333   IPI01018734   IPI00607766   IPI00640714   
    Protein Interaction databases
    DIP (DOE-UCLA)P15976
    IntAct (EBI)P15976
    FunCoupENSG00000102145
    BioGRIDGATA1
    STRING (EMBL)GATA1
    ZODIACGATA1
    Ontologies - Pathways
    QuickGOP15976
    Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  transcription regulatory region sequence-specific DNA binding  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II proximal promoter sequence-specific DNA binding  RNA polymerase II proximal promoter sequence-specific DNA binding  RNA polymerase II proximal promoter sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  RNA polymerase II transcription factor binding  DNA-binding transcription activator activity, RNA polymerase II-specific  in utero embryonic development  p53 binding  DNA binding  DNA-binding transcription factor activity  protein binding  nucleus  nucleus  nucleoplasm  transcription factor complex  transcription by RNA polymerase II  cell-cell signaling  blood coagulation  zinc ion binding  negative regulation of cell proliferation  male gonad development  regulation of glycoprotein biosynthetic process  regulation of definitive erythrocyte differentiation  regulation of definitive erythrocyte differentiation  regulation of primitive erythrocyte differentiation  transcriptional repressor complex  erythrocyte differentiation  megakaryocyte differentiation  platelet formation  basophil differentiation  eosinophil differentiation  negative regulation of bone mineralization  chromatin DNA binding  protein-DNA complex  positive regulation of osteoblast proliferation  embryonic hemopoiesis  eosinophil fate commitment  negative regulation of apoptotic process  sequence-specific DNA binding  positive regulation of erythrocyte differentiation  regulation of megakaryocyte differentiation  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  erythrocyte development  homeostasis of number of cells within a tissue  positive regulation of peptidyl-tyrosine phosphorylation  platelet aggregation  C2H2 zinc finger domain binding  transcriptional activation by promoter-enhancer looping  dendritic cell differentiation  cellular response to thyroid hormone stimulus  regulation of hematopoietic stem cell differentiation  negative regulation of transcription regulatory region DNA binding  negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  
    Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  transcription regulatory region sequence-specific DNA binding  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II proximal promoter sequence-specific DNA binding  RNA polymerase II proximal promoter sequence-specific DNA binding  RNA polymerase II proximal promoter sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  RNA polymerase II transcription factor binding  DNA-binding transcription activator activity, RNA polymerase II-specific  in utero embryonic development  p53 binding  DNA binding  DNA-binding transcription factor activity  protein binding  nucleus  nucleus  nucleoplasm  transcription factor complex  transcription by RNA polymerase II  cell-cell signaling  blood coagulation  zinc ion binding  negative regulation of cell proliferation  male gonad development  regulation of glycoprotein biosynthetic process  regulation of definitive erythrocyte differentiation  regulation of definitive erythrocyte differentiation  regulation of primitive erythrocyte differentiation  transcriptional repressor complex  erythrocyte differentiation  megakaryocyte differentiation  platelet formation  basophil differentiation  eosinophil differentiation  negative regulation of bone mineralization  chromatin DNA binding  protein-DNA complex  positive regulation of osteoblast proliferation  embryonic hemopoiesis  eosinophil fate commitment  negative regulation of apoptotic process  sequence-specific DNA binding  positive regulation of erythrocyte differentiation  regulation of megakaryocyte differentiation  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  erythrocyte development  homeostasis of number of cells within a tissue  positive regulation of peptidyl-tyrosine phosphorylation  platelet aggregation  C2H2 zinc finger domain binding  transcriptional activation by promoter-enhancer looping  dendritic cell differentiation  cellular response to thyroid hormone stimulus  regulation of hematopoietic stem cell differentiation  negative regulation of transcription regulatory region DNA binding  negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  
    REACTOMEP15976 [protein]
    REACTOME PathwaysR-HSA-983231 [pathway]   
    NDEx NetworkGATA1
    Atlas of Cancer Signalling NetworkGATA1
    Wikipedia pathwaysGATA1
    Orthology - Evolution
    OrthoDB2623
    GeneTree (enSembl)ENSG00000102145
    Phylogenetic Trees/Animal Genes : TreeFamGATA1
    HOGENOMP15976
    Homologs : HomoloGeneGATA1
    Homology/Alignments : Family Browser (UCSC)GATA1
    Gene fusions - Rearrangements
    Fusion : MitelmanMYB/GATA1 [6q23.3/Xp11.23]  [t(X;6)(p11;q23)]  
    Fusion : TICdbMYB [6q23.3]  -  GATA1 [Xp11.23]
    Fusion : FusionGDB15861   
    Fusion : Fusion_HubESR1--GATA1    GATA1--MYB    HBA1--GATA1    MYB--GATA1   
    Fusion : QuiverGATA1
    Polymorphisms : SNP and Copy number variants
    NCBI Variation ViewerGATA1 [hg38]
    dbSNP Single Nucleotide Polymorphism (NCBI)GATA1
    dbVarGATA1
    ClinVarGATA1
    1000_GenomesGATA1 
    Exome Variant ServerGATA1
    ExAC (Exome Aggregation Consortium)ENSG00000102145
    GNOMAD BrowserENSG00000102145
    Varsome BrowserGATA1
    Genetic variants : HAPMAP2623
    Genomic Variants (DGV)GATA1 [DGVbeta]
    DECIPHERGATA1 [patients]   [syndromes]   [variants]   [genes]  
    CONAN: Copy Number AnalysisGATA1 
    Mutations
    ICGC Data PortalGATA1 
    TCGA Data PortalGATA1 
    Broad Tumor PortalGATA1
    OASIS PortalGATA1 [ Somatic mutations - Copy number]
    Somatic Mutations in Cancer : COSMICGATA1  [overview]  [genome browser]  [tissue]  [distribution]  
    Somatic Mutations in Cancer : COSMIC3DGATA1
    Mutations and Diseases : HGMDGATA1
    LOVD (Leiden Open Variation Database)Whole genome datasets
    LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
    LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
    LOVD (Leiden Open Variation Database)The Globin Gene Server
    BioMutasearch GATA1
    DgiDB (Drug Gene Interaction Database)GATA1
    DoCM (Curated mutations)GATA1 (select the gene name)
    CIViC (Clinical Interpretations of Variants in Cancer)GATA1 (select a term)
    intoGenGATA1
    NCG5 (London)GATA1
    Cancer3DGATA1(select the gene name)
    Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
    Diseases
    OMIM190685    300367    300835    305371    314050   
    Orphanet429    19182    22346    23117    10904    11303    11754    14460   
    DisGeNETGATA1
    MedgenGATA1
    Genetic Testing Registry GATA1
    NextProtP15976 [Medical]
    TSGene2623
    GENETestsGATA1
    Target ValidationGATA1
    Huge Navigator GATA1 [HugePedia]
    snp3D : Map Gene to Disease2623
    BioCentury BCIQGATA1
    ClinGenGATA1
    Clinical trials, drugs, therapy
    Chemical/Protein Interactions : CTD2623
    Chemical/Pharm GKB GenePA28584
    Clinical trialGATA1
    Miscellaneous
    canSAR (ICR)GATA1 (select the gene name)
    DataMed IndexGATA1
    Probes
    Litterature
    PubMed256 Pubmed reference(s) in Entrez
    GeneRIFsGene References Into Functions (Entrez)
    CoreMineGATA1
    EVEXGATA1
    GoPubMedGATA1
    iHOPGATA1
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed

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