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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GATA1 Gene

protein-coding   GIFtS: 66
GCID: GC0XP048644

GATA Binding Protein 1 (Globin Transcription Factor 1)

(Previous name: GATA-binding protein 1 (globin transcription factor 1))
(Previous symbol: GF1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
GATA Binding Protein 1 (Globin Transcription Factor 1)1 2     Nuclear Factor1
GF11 2 3 5     NF-E12
ERYF12 3 5     XLANP2
GATA-12 3     XLTDA2
GF-12 3     Erythroid Transcription Factor2
GATA-Binding Factor 12 3     Erythroid Transcription Factor 12
NF-E1 DNA-Binding Protein2 3     Globin Transcription Factor 12
NFE12 5     Nuclear Factor, Erythroid 12
XLTT2 5     Transcription Factor GATA12
Erythroid 11     Eryf13
GATA-Binding Protein 1 (Globin Transcription Factor 1)1     

External Ids:    HGNC: 41701   Entrez Gene: 26232   Ensembl: ENSG000001021457   OMIM: 3053715   UniProtKB: P159763   

Export aliases for GATA1 gene to outside databases

Previous GC identifers: GC0XP047447 GC0XP046905 GC0XP047690 GC0XP048401 GC0XP048529 GC0XP046304


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GATA1 Gene:
This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an
important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin.
Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia.
(provided by RefSeq, Jul 2008)

GeneCards Summary for GATA1 Gene: 
GATA1 (GATA binding protein 1 (globin transcription factor 1)) is a protein-coding gene. Diseases associated with GATA1 include macrothrombocytopenia, and acute megakaryoblastic leukemia in down syndrome, and among its related super-pathways are DREAM Repression and Dynorphin Expression and Platelet activation, signaling and aggregation. GO annotations related to this gene include chromatin binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is GATA6.

UniProtKB/Swiss-Prot: GATA1_HUMAN, P15976
Function: Transcriptional activator which probably serves as a general switch factor for erythroid development. It
binds to DNA sites with the consensus sequence [AT]GATA[AG] within regulatory regions of globin genes and of
other genes expressed in erythroid cells

Gene Wiki entry for GATA1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_079573.4  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GATA1 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGATA1 promoter sequence
   Search SABiosciences Chromatin IP Primers for GATA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GATA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp11.23   Ensembl cytogenetic band:  Xp11.23   HGNC cytogenetic band: Xp11.23

GATA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GATA1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP048644:  view genomic region     (about GC identifiers)

Start:
48,644,962 bp from pter      End:
48,652,718 bp from pter
Size:
7,757 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GATA1_HUMAN, P15976 (See protein sequence)
Recommended Name: Erythroid transcription factor  
Size: 413 amino acids; 42751 Da
Subunit: May form homodimers or heterodimers with other isoforms. Interacts (via the N-terminal zinc finger) with
ZFPM1. Interacts with GFI1B. Interacts with PIAS4; the interaction enhances sumoylation and represses the
transactivational activity in a sumoylation-independent manner. Interacts with LMCD1. Interacts with BRD3 (By
similarity). Interacts with CREBBP; the interaction stimulates acetylation and transcriptional activity in vivo
(By similarity). Interacts with EP300
Subcellular location: Nucleus
Secondary accessions: Q96GB8
Alternative splicing, Alternative initiation: 3 isoforms:  P15976-1   P15976-2   P15976-3   (Produced by alternative initiation at Met-84 of isoform 1)

Explore the universe of human proteins at neXtProt for GATA1: NX_P15976

Explore proteomics data for GATA1 at MOPED 

Post-translational modifications:

  • UniProtKB: Highly phosphorylated on serine residues. Phosphorylation on Ser-310 is enhanced on erythroid differentiation.
    Phosphorylation on Ser-142 promotes sumoylation on Lys-137 (By similarity)
  • UniProtKB: Sumoylation on Lys-137 is enhanced by phosphorylation on Ser-142 and by interaction with PIAS4. Sumoylation with
    SUMO1 has no effect on transcriptional activity (By similarity)
  • UniProtKB: Acetylated at 2 conserved lysine-rich motifs by CREBBP in vitro. Acetylation does not affect DNA-binding in vitro
    but is essential to induce erythroid differentiation and for binding chromatin in vivo (By similarity).
    Acetylated on Lys-233, Lys-245 Lys-246 by EP300
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P15976

  • GATA1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GATA1 Protein Expression
    REFSEQ proteins: NP_002040.1  
    ENSEMBL proteins: 
     ENSP00000365858   ENSP00000365853   ENSP00000404985  
    Reactome Protein details: P15976
    Human Recombinant Protein Products for GATA1: 
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    Cloud-Clone Corp. Proteins for GATA1 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex IDA15920471
    GO:0005730nucleolus IDA--
    GO:0017053transcriptional repressor complex IDA15920471

    GATA1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    GATAD: GATA zinc finger domain containing

    3 InterPro protein domains:
     IPR016374 TF_GATA-1/2/3
     IPR000679 Znf_GATA
     IPR013088 Znf_NHR/GATA

    Graphical View of Domain Structure for InterPro Entry P15976

    ProtoNet protein and cluster: P15976

    1 Blocks protein domain: IPB000679 Zn-finger

    UniProtKB/Swiss-Prot: GATA1_HUMAN, P15976
    Domain: The two fingers are functionally distinct and cooperate to achieve specific, stable DNA binding. The first
    finger is necessary only for full specificity and stability of binding, whereas the second one is required for
    binding (By similarity)
    Similarity: Contains 2 GATA-type zinc fingers


    GATA1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GATA1_HUMAN, P15976
    Function: Transcriptional activator which probably serves as a general switch factor for erythroid development. It
    binds to DNA sites with the consensus sequence [AT]GATA[AG] within regulatory regions of globin genes and of
    other genes expressed in erythroid cells

         Genatlas biochemistry entry for GATA1:
    erythroid specific transcription factor,GATA sequence binding protein (same as EryF1,NF-E1,EF-1,EF
    gamma-a,GF1),expressed in RBC,mast cell,megakaryocyte,hematopoietic progenitor cell,testis,associated with a
    special class of nuclear bodies,activated by erythropoietin,inactivated by coactivation of DEATH receptors
    (TNFRSF6) mediated caspase cleavage

         Gene Ontology (GO): 5/17 molecular function terms (GO ID links to tree view) (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000976transcription regulatory region sequence-specific DNA binding IMP10700180
    GO:0000977RNA polymerase II regulatory region sequence-specific DNA binding IDA2467208
    GO:0000978RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA--
    GO:0000981sequence-specific DNA binding RNA polymerase II transcription factor activity ----
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA--
         
    GATA1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for GATA1:
     Increased G2M DNA content  Increased number of mitotic ce 

         13 MGI mutant phenotypes (inferred from 14 alleles(MGI details for Gata1):
     cardiovascular system  cellular  embryogenesis  growth/size  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 
     normal  respiratory system  skeleton 

    GATA1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for GATA1: Gata1tm2Sho Gata1tm1Sho Gata1tm2.1Sho Gata1tm6Sho

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GATA1 
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GATA1 

    10/1918 SABiosciences Target genes for GATA1 (see all 1918):
    ABCA12 ABCA2 ABCA6 ABCC12 ABCC13 ABCC6 ABCC6P1 ABCC6P2 ABCD3 ABCD4

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GATA1 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1DREAM Repression and Dynorphin Expression
    BMP Pathway0.44
    2Platelet activation, signaling and aggregation
    Hemostasis0.43
    3G-AlphaQ Signaling
    Thrombin Signaling0.40
    4Signaling events mediated by HDAC Class II
    Signaling events mediated by HDAC Class II
    5Signaling events mediated by HDAC Class I
    Signaling events mediated by HDAC Class I

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GATA1
        BMP Pathway
    Thrombin Signaling

    1 Cell Signaling Technology (CST) Pathway for GATA1
        Lymphocyte Signaling

    5 BioSystems Pathways for GATA1
        IL-3 Signaling Pathway
    Signaling events mediated by HDAC Class I
    Signaling events mediated by HDAC Class II
    C-MYB transcription factor network
    Notch-mediated HES/HEY network

    2        Reactome Pathways for GATA1
        Hemostasis
    Factors involved in megakaryocyte development and platelet production



    GATA1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GATA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/85 Interacting proteins for GATA1 (P159761, 2, 3 ENSP000003658584) via UniProtKB, MINT, STRING, and/or I2D (see all 85)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPK6Q166592, 3MINT-8261153 I2D: score=2 
    ENSG00000237056O152093, ENSP000003962924I2D: score=1 STRING: ENSP00000396292
    ENSG00000206280O152093I2D: score=1 
    ENSG00000227780O152093I2D: score=1 
    ENSG00000229253O152093I2D: score=1 
    About this table

    Gene Ontology (GO): 5/32 biological process terms (GO ID links to tree view) (see all 32):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ----
    GO:0001701in utero embryonic development IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006366transcription from RNA polymerase II promoter IDA2467208
    GO:0007267cell-cell signaling IEA--

    GATA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GATA1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for GATA1

    10/32 Novoseek inferred chemical compound relationships for GATA1 gene (see all 32)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    aclacinomycin 78.5 11 8639908 (2), 8853898 (2), 9389364 (2), 8445949 (1) (see all 6)
    porphobilinogen 66.4 7 10207080 (1), 2266112 (1), 8445949 (1), 14757314 (1) (see all 7)
    zinc 57.1 50 7739529 (4), 11809723 (2), 12724402 (2), 15659837 (2) (see all 32)
    cytarabine 41.5 4 14744791 (1), 10037146 (1), 18094719 (1)
    aclarubicin 39.1 1 10449186 (1)
    uroporphyrinogen-iii 35.7 1 11254675 (1)
    butyrate 31.9 12 9918824 (4), 19279013 (2), 14757314 (1), 10449186 (1) (see all 8)
    5-aminolevulinic acid 25 3 10207080 (1), 10828046 (1), 11675336 (1)
    retinoic acid 17.1 9 19230972 (2), 17917245 (2), 8298127 (2), 8843397 (1)
    actinomycin d 15.8 3 8853898 (1), 12670444 (1), 10402242 (1)

    Search CenterWatch for drugs/clinical trials and news about GATA1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
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    About This Section

    REFSEQ mRNAs for GATA1 gene: 
    NM_002049.3  

    Unigene Cluster for GATA1:

    GATA binding protein 1 (globin transcription factor 1)
    Hs.765  [show with all ESTs]
    Unigene Representative Sequence: NM_002049
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376670(uc004dkq.4) ENST00000376665 ENST00000447551
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    Additional mRNA sequence: 

    BC009797.1 M30601.1 X17254.1 

    3 DOTS entries:

    DT.109910  DT.121306319  DT.95263420 

    18 AceView cDNA sequences:

    BX090462 BI836762 BG492904 BX644853 BF212679 BX644559 BF183877 BI769078 
    NM_002049 BC009797 X17254 BF210926 M30601 BF211536 R06500 T80715 
    BQ182134 N73047 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GATA1 expression in normal human tissues (normalized intensities)      GATA1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCTCCAGAG
    GATA1 Expression
    About this image


    GATA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/26 selected tissues (see all 26) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 12 entries
             Common Myeloid Progenitor Cells Hematopoietic Bone Marrow
             Umbilical cord blood-derived hematopoietic stem cells
             Bone Marrow CD105+ Cells   
             bone marrow   
     
     Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             Mesodermal cells ( Mouse embryonic stem cell differentiation into mesoderm, definitive...
             skeleton/axial skeleton   
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Extraembryonic Angioblasts Extraembryonic Blood Islands
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Extraembryonic Mesoderm (Extraembryonic Tissues)    fully expand to see all 2 entries
             Primitive Erythrocytes Extraembryonic Blood Islands

    See GATA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GATA1

    SOURCE GeneReport for Unigene cluster: Hs.765

    UniProtKB/Swiss-Prot: GATA1_HUMAN, P15976
    Tissue specificity: Erythrocytes

        SABiosciences Expression via Pathway-Focused PCR Arrays including GATA1: 
              Cell Lineage Identification in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              Leukemia in human mouse rat
              Transcription Factors in human mouse rat
              Hematopoiesis in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for GATA1 gene from 6/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gata11 , 5 GATA binding protein 11, 5 83.29(n)1
    85.96(a)1
      X (3.59 cM)5
    144601  NM_008089.11  NP_032115.11 
     79592605 
    lizard
    (Anolis carolinensis)
    Reptilia GATA16
    Uncharacterized protein
    40(a)
    1 ↔ 1
    2(86308578-86331326)
    zebrafish
    (Danio rerio)
    Actinopterygii NM_131234.12   -- 78.72(n)   30481  NM_131234.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta grn3 histogenesis RNA polymerase II
    transcription factor
    80(a)
    (best of 2)
      3 84F1   --
    worm
    (Caenorhabditis elegans)
    Secernentea elt-13 elongation factor ELT 68(a)   IV(9615443-9619838)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GZF36
    GLN36
    (see all 4)
    GATA zinc finger protein and Dal80p homolog that n...
    Transcriptional activator of genes regulated by ni...
    (see all 4)
    8(a)
    7(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    X(209922-211577)
    V(229795-231987)


    ENSEMBL Gene Tree for GATA1 (if available)
    TreeFam Gene Tree for GATA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GATA1 gene
    GATA62  GATA42  GATA32  GATA22  GATA52  TRPS12  
    4 SIMAP similar genes for GATA1 using alignment to 3 protein entries:     GATA1_HUMAN (see all proteins):
    GATA4    TRPS1    GATA3    GATA2

    GATA1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/158 SNPs in GATA1 are shown (see all 158)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0331144
    Thrombocytopenia with beta-thalassemia, X-linked (XLTT)4--see VAR_0331142 R Q mis40--------
    VAR_0101154
    X-linked dyserythropoietic anemia and thrombocytopenia (XDAT)4--see VAR_0101152 V M mis40--------
    VAR_0127074
    X-linked dyserythropoietic anemia and thrombocytopenia (XDAT)4--see VAR_0127072 D G mis40--------
    VAR_0127064
    X-linked dyserythropoietic anemia and thrombocytopenia (XDAT)4--see VAR_0127062 G S mis40--------
    VAR_0331154
    X-linked dyserythropoietic anemia and thrombocytopenia (XDAT)4--see VAR_0331152 D Y mis40--------
    rs1048948151,2
    Cpathogenic148570484(+) AGTGTA/GTGAAC 2 M V mis10--------
    rs1048948091,2
    Cpathogenic148570518(+) GTGGCA/GGAGGG 2 Q R mis10--------
    rs1048948081,2
    Cpathogenic148570523(+) GGAGGG/TACAGG 2 D Y mis10--------
    rs1048948161,2
    Cpathogenic148570524(+) GAGGGA/GCAGGA 2 D G mis10--------
    rs1473204861,2
    C--48563018(+) CTTTGC/TATTCG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for GATA1 (48644962 - 48652718 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for GATA1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv6893CNV Insertion18451855
    nsv528292CNV Gain19592680
    esv28934CNV Gain19812545
    esv32909CNV Gain+Loss17666407


    Human Gene Mutation Database (HGMD): GATA1
    4 SABiosciences Cancer Mutation PCR Assays for GATA1:
    Cosmic IdAA Change
    17833p.V74I
    13225p.S30fs*9
    13211p.Q17*
    13219p.M1fs
    3 SABiosciences Cancer Mutation PCR Arrays containing GATA1:
    Hematopoietic Neoplasms
    Lung and Colon Cancers (Expanded Panel) 384HT
    Cancer Comprehensive Panel 384HT
    SeqTarget long-range PCR primers for resequencing GATA1
    DNA2.0 Custom Variant and Variant Library Synthesis for GATA1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 305371   
    OMIM disorders: 300367  190685  314050  
    UniProtKB/Swiss-Prot: GATA1_HUMAN, P15976
  • X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]: Disorder characterized by
    erythrocytes with abnormal size and shape, and paucity of platelets in peripheral blood. The bone marrow contains
    abundant and abnormally small megakaryocytes. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Thrombocytopenia with beta-thalassemia, X-linked (XLTT) [MIM:314050]: An unusual form of thrombocytopenia
    associated with beta-thalassemia. Patients have splenomegaly and petechiae, moderate thrombocytopenia, prolonged
    bleeding time due to platelet dysfunction, reticulocytosis and unbalanced (hemo)globin chain synthesis resembling
    that of beta-thalassemia minor. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Anemia without thrombocytopenia, X-linked (XLAWT) [MIM:300835]: A form of anemia characterized by
    abnormal morphology of erythrocytes and granulocytes in peripheral blood, bone marrow dysplasia with
    hypocellularity of erythroid and granulocytic lineages, and normal or increased number of megakaryocytes.
    Neutropenia of a variable degree is present in affected individuals. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20/51 diseases for GATA1 (see all 51):    About MalaCards
    macrothrombocytopenia    acute megakaryoblastic leukemia in down syndrome    tetrasomy 21    dyserythropoietic anemia and thrombocytopenia
    gata1-related x-linked cytopenia    n syndrome    gata1-related cytopenia    thrombocytopenia with beta-thalassemia, x-linked
    leukemia, megakaryoblastic, of down syndrome    leukemia, megakaryoblastic, with or without down syndrome    acute basophilic leukemia    thrombocytopenia
    megakaryocytic leukemia    x-linked thrombocytopenia    gray platelet syndrome    leukemoid reaction
    congenital erythropoietic porphyria    myelofibrosis    stem cell leukemia    glanders

    2 diseases from the University of Copenhagen DISEASES database for GATA1:
    Leukemoid reaction     Thalassemia

    GATA1 for disorders           About GeneDecksing

    10/43 Novoseek inferred disease relationships for GATA1 gene (see all 43)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    megakaryoblastic leukemia acute 93.3 41 16628190 (2), 19119459 (2), 14636651 (2), 20108342 (2) (see all 29)
    dyserythropoietic anemia 82.4 7 11809723 (1), 16103636 (1), 16158817 (1), 17538848 (1) (see all 5)
    erythroleukemia 81.6 21 7722440 (2), 9808054 (2), 1569944 (1), 8443382 (1) (see all 17)
    down syndrome 77.1 108 15390279 (3), 12747884 (3), 12816863 (3), 15686466 (3) (see all 60)
    myeloproliferative disorders 76.2 20 15686466 (2), 14636651 (2), 15390312 (1), 16628190 (1) (see all 17)
    thrombocytopenia 1 70.8 9 14656885 (2), 11675338 (2), 16158817 (1), 12200364 (1) (see all 5)
    leukemogenesis 67.8 16 12560215 (2), 20154221 (1), 14512321 (1), 19633202 (1) (see all 11)
    leukemia 66.1 75 12747884 (4), 7579412 (4), 15390279 (3), 8199039 (3) (see all 42)
    gray platelet syndrome 61.5 1 17209061 (1)
    acute leukemia 58.3 21 14636651 (3), 8035609 (2), 7780155 (2), 10360378 (1) (see all 16)

    GeneTests: GATA1
    GeneReviews: GATA1
    Genetic Association Database (GAD): GATA1
    Human Genome Epidemiology (HuGE) Navigator: GATA1 (9 documents)

    Export disorders for GATA1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GATA1 gene, integrated from 9 sources (see all 630):
    (articles sorted by number of sources associating them with GATA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (PubMed id 11809723)1, 2, 4, 9 Freson K.... Van Geet C. (2002)
    2. Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21. (PubMed id 12649131)1, 4, 9 Rainis L....Izraeli S. (2003)
    3. Incidence and clinical implications of GATA1 mutations in newborns with Down syndrome. (PubMed id 17576817)1, 4, 9 Pine S.R....Sandoval C. (2007)
    4. The major human erythroid DNA-binding protein (GF-1): primary sequence and localization of the gene to the X chromosome. (PubMed id 2300555)1, 2, 9 Zon L.I....Orkin S.H. (1990)
    5. Frequent mutations in the GATA-1 gene in the transient myeloproliferative disorder of Down syndrome. (PubMed id 12816863)1, 4, 9 Xu G....Ito E. (2003)
    6. X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction. (PubMed id 12200364)1, 2, 9 Yu C....Raskind W.H. (2002)
    7. GATA-1 and Gfi-1B interplay to regulate Bcl-xL transcription. (PubMed id 17420275)1, 2, 9 Kuo Y.-Y. and Chang Z.-F. (2007)
    8. X-linked thrombocytopenia caused by a novel mutation of GATA-1. (PubMed id 11675338)1, 2, 9 Mehaffey M.G.... Drachman J.G. (2001)
    9. Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation. (PubMed id 11418466)1, 2, 9 Freson K.... Van Geet C. (2001)
    10. No mutations in the GATA-1 gene detected in patients with acquired essential thrombocythemia. (PubMed id 15136229)1, 4, 9 Gandini D....Gale R.E. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2623 HGNC: 4170 AceView: GATA1.1 Ensembl:ENSG00000102145 euGenes: HUgn2623
    ECgene: GATA1 H-InvDB: GATA1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GATA1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GATA1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GATA1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GATA1 gene:
    Search GeneIP for patents involving GATA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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