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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)
 Explore 53 diseases affiliated with
GATA1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for GATA1    

Aliases
for GATA1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
GATA Binding Protein 1 (Globin Transcription Factor 1)1 2     GATA-Binding Protein 1 (Globin Transcription Factor 1)1
ERYF11 2 3 5     XLANP2
GF11 2 3 5     XLTDA2
GATA-11 2 3     Erythroid Transcription Factor2
NFE11 2 5     Erythroid Transcription Factor 12
GF-12 3     Globin Transcription Factor 12
GATA-Binding Factor 12 3     Transcription Factor GATA12
NF-E1 DNA-Binding Protein2 3     Eryf13
XLTT2 5     

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


Summaries
for GATA1 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_079573.4  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GATA1 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GATA1 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

Proteins
for GATA1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • 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)1
  • 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)1
  • 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 EP3001
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P15976

    • GATA1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002040.1  
    ENSEMBL proteins: 
     ENSP00000365858   ENSP00000365853   ENSP00000404985  
    Reactome Protein details: P15976
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    Uscn 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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    Uscn ELISAs and CLIAs for GATA1

    Protein Domains /
    Families
    for GATA1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    GATA1 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: 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


    Function
    for GATA1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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

    10/1956 SABiosciences Target genes for GATA1 (see all 1956):
    ABCA12 ABCA2 ABCA6 ABCC12 ABCC13 ABCC6 ABCC6P1 ABCC6P2 ABCD3 ABCD4

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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    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


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

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


    Pathways & Interactions
    for GATA1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Lymphocyte Signaling
    		Lymphocyte Signaling1.00
    2Factors involved in megakaryocyte development and platelet production
    		Factors involved in megakaryocyte development and platelet production1.00
    3Notch-mediated HES/HEY network
    		Notch-mediated HES/HEY network1.00
    4C-MYB transcription factor network
    		C-MYB transcription factor network1.00
    5Signaling events mediated by HDAC Class II
    		Signaling events mediated by HDAC Class II1.00

    Pathway sources
    See GeneCards unified pathways
    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 II
    Notch-mediated HES/HEY network
    Signaling events mediated by HDAC Class I
    C-MYB transcription factor 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)

    5/82 Interacting proteins for GATA1 (P159761, 2, 3 ENSP000003658584) via UniProtKB, MINT, STRING, and/or I2D (see all 82)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPK6Q166592, 3MINT-8261153 I2D: score=2 
    UBCP0CG482, 3, ENSP000003448184MINT-2840161 I2D: score=2 STRING: ENSP00000344818
    SPI1P179473, ENSP000002271634I2D: score=6 STRING: ENSP00000227163
    MED1Q156483, ENSP000003006514I2D: score=5 STRING: ENSP00000300651
    TAL1P175423, ENSP000002943394I2D: score=4 STRING: ENSP00000294339
    About this table

    Gene Ontology (GO): 5/34 biological process terms (GO ID links to tree view) (see all 34):    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:0006366transcription from RNA polymerase II promoter IDA2467208
    GO:0007267cell-cell signaling IEA--
    GO:0007596blood coagulation TAS--


    GATA1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for GATA1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for GATA1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    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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    Clone
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    Additional cDNA sequence: 

    BC009797.1 M30601.1 X17254.1 

    3 DOTS entries:

    DT.109910  DT.121306319  DT.95263420 

    18 AceView cDNA sequences:

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

    GeneLoc Exon Structure


    Expression
    for GATA1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCCTCCAGAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    GATA1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    9 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BloodPeripheral BloodCommon Myeloid Progenitor CellsBlood
    Extraembryonic MesodermExtraembryonic Blood IslandsPrimitive ErythrocytesBlood
    Yolk SacDefinitive Yolk SacErythroid Progenitor CellsBlood
    BloodPeripheral BloodCommon Lymphoid Progenitor CellsBlood
    Extraembryonic MesodermExtraembryonic Blood IslandsExtraembryonic AngioblastsEndothelium
    LiverLiver BudHematopoietic Stem CellsBlood
    Primitive StreakPosterior Primitive StreakHemangioblastsBlood, Endothelium
    HeartCardiac CrescentCardiac Crescent CellsMyocardium
    Yolk SacDefinitive Yolk SacDefinitive Hematopoietic Stem CellsBlood
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    Blast colony cells (Generation and expan...)
    Mesodermal cells (Mouse embryonic stem...)
    Embryoid bodies (Generation and expan...)
    Activin A-induced embryoid bodies (Mouse embryonic stem...)

    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: 
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              Leukemia in human mouse rat
              Transcription Factors in human mouse rat
              Hematopoiesis in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for GATA1 gene

    (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.

    Orthologs for GATA1 gene from 3/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia GATA16
    		 --
    		 54(a)
    		 1 ↔ 1
    		 2(86308578-86331104)
    zebrafish
    (Danio rerio)    		 Actinopterygii NM_131234.12   -- 78.72(n)   30481  NM_131234.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea elt-13 elongation factor ELT 68(a)   IV(9615443-9619838)   --


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

    Paralogs
    for GATA1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GATA1 gene
    GATA62  GATA32  GATA42  GATA22  GATA52  
    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



    Genomic Variants
    for GATA1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/111 NCBI SNPs in GATA1 are shown (see all 111)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048948151,2
    		Cpathogenic48650744(+) AGTGTA/GTGAAC 2 M V mis10--------
    rs1048948091,2
    		Cpathogenic48650778(+) GTGGCA/GGAGGG 2 Q R mis10--------
    rs1048948081,2
    		Cpathogenic48650783(+) GGAGGG/TACAGG 2 D Y mis10--------
    rs1048948161,2
    		Cpathogenic48650784(+) GAGGGA/GCAGGA 2 D G mis10--------
    rs1473204861,2
    		--48643280(+) CTTTGC/TATTCG 1 -- us2k10--------
    rs1399591141,2
    		--48643368(+) TTGCTC/GTCTTT 1 -- us2k10--------
    rs1814514401,2
    		--48643569(+) CCCACA/GTGTGC 1 -- us2k10--------
    rs1868726051,2
    		--48643712(+) GGTGCA/GGAGGC 1 -- us2k10--------
    rs1498562541,2
    		--48644027(+) GTCTCA/GCCCTC 1 -- us2k10--------
    rs1917176631,2
    		--48644107(+) CTGTCA/GCTCTC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for GATA1 (48644962 - 48652718 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for GATA1
         1 CNV: 7789
         1 Indel: 73970
    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
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GATA1
    DNA2.0 Custom Variant and Variant Library Synthesis for GATA1

    Disorders / Diseases
    for GATA1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    GATA1 for disorders           About GeneDecksing

    OMIM gene information: 305371   
    OMIM disorders: 300367  190685  314050  
    UniProtKB/Swiss-Prot: GATA1_HUMAN, P15976
  • Defects in GATA1 are the cause of X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367].
    • XDAT is a 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
  • Defects in GATA1 are the cause of X-linked thrombocytopenia with beta-thalassemia (XLTT) [MIM:314050]; also
    • knwon as thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis. XLTT consists of an
    unusual form of thrombocytopenia with beta-thalassemia. Patients have splenomegaly and petechiae, moderate
    thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and unbalanced hemoglobin chain
    synthesis resembling that of beta-thalassemia minor
  • Defects in GATA1 are the cause of anemia without thrombocytopenia X-linked (XLAWT) [MIM:300835]. XLAWT is 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

    20/53 diseases for GATA1 (see all 53):    About MalaCards
    dyserythropoietic anemia    dyserythropoietic anemia with thrombocytopenia    thrombocytopenia with beta-thalassemia, x-linked    anemia, x-linked, without thrombocytopenia
    thrombocytopenia    anemia    gray platelet syndrome    beta thalassemia
    wiskott-aldrich syndrome    hereditary persistence of fetal hemoglobin    leukemia, megakaryoblastic, with or without down syndrome    thrombocytopenia, x-linked
    congenital erythropoietic porphyria    leukemia, megakaryoblastic, of down syndrome    leukemoid reaction    thalassemia
    down syndrome    megakaryoblastic leukemia    porphyria    myeloid leukemia

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

    10/43 Novoseek 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
    GATA1-Related Cytopenia

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

    Export disorders for GATA1 gene to outside databases

    Publications
    for GATA1 gene

    (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 620):
    (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. 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)
    4. 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)
    5. 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)
    6. 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)
    7. X-linked thrombocytopenia caused by a novel mutation of GATA-1. (PubMed id 11675338)1, 2, 9 Mehaffey M.G.... Drachman J.G. (2001)
    8. 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)
    9. 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)
    10. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)

    External Searches for GATA1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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    Genome Databases showing GATA1 gene

    (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

    Other Databases showing GATA1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing GATA1 gene

    (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

    Intellectual Property
    for GATA1 gene

    (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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