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    GATA1 GATA binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 2623, updated on 9-Jul-2017
    Official Symbol
    GATA1provided by HGNC
    Official Full Name
    GATA binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:4170
    See related
    Ensembl:ENSG00000102145 MIM:305371; Vega:OTTHUMG00000021504
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GF1; GF-1; NFE1; XLTT; ERYF1; NF-E1; XLANP; XLTDA; GATA-1
    Summary
    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]
    Orthologs
    Location:
    Xp11.23
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (48786540..48794311)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48644982..48652718)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene glyoxalase domain containing 5 Neighboring gene acetyl-CoA acyltransferase 2 pseudogene Neighboring gene RNA, U6 small nuclear 29, pseudogene Neighboring gene histone deacetylase 6 Neighboring gene ES cell expressed Ras

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Amino acids 19-26 of HIV-1 Nef mediate the binding of Nef to murine GATA-1 and GATA-3 in vitro, suggesting Nef may act as a nuclear regulatory factor through binding to human GATA-1 and GATA-3 PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    C2H2 zinc finger domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA binding, bending IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase II core promoter sequence-specific DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    RNA polymerase II regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA polymerase II transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    chromatin DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    core promoter binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enhancer sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    p53 binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sequence-specific DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription factor activity, sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription regulatory region sequence-specific DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    basophil differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    cell-cell signaling IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to thyroid hormone stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dendritic cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic hemopoiesis IEA
    Inferred from Electronic Annotation
    more info
     
    eosinophil differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    eosinophil fate commitment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    erythrocyte development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    erythrocyte differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    homeostasis of number of cells within a tissue IEA
    Inferred from Electronic Annotation
    more info
     
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    male gonad development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    megakaryocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of bone mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    platelet aggregation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    platelet formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of erythrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of osteoblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of peptidyl-tyrosine phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of definitive erythrocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of glycoprotein biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of hematopoietic stem cell differentiation TAS
    Traceable Author Statement
    more info
     
    regulation of megakaryocyte differentiation TAS
    Traceable Author Statement
    more info
     
    regulation of primitive erythrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcriptional activation by promoter-enhancer looping ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein-DNA complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcriptional repressor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    erythroid transcription factor
    Names
    GATA-binding factor 1
    NF-E1 DNA-binding protein
    erythroid transcription factor 1
    globin transcription factor 1
    nuclear factor, erythroid 1
    transcription factor GATA1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008846.2 RefSeqGene

      Range
      5001..12738
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_559

    mRNA and Protein(s)

    1. NM_002049.3NP_002040.1  erythroid transcription factor

      See identical proteins and their annotated locations for NP_002040.1

      Status: REVIEWED

      Source sequence(s)
      AI057349, X17254
      Consensus CDS
      CCDS14305.1
      UniProtKB/Swiss-Prot
      P15976
      Related
      ENSP00000365858.3, OTTHUMP00000023259, ENST00000376670.7, OTTHUMT00000056517
      Conserved Domains (2) summary
      smart00401
      Location:202247
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      cd00202
      Location:203247
      ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      48786540..48794311
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543897.2XP_011542199.1  erythroid transcription factor isoform X1

      Conserved Domains (2) summary
      smart00401
      Location:202247
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      cd00202
      Location:203247
      ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C
    2. XM_011543898.2XP_011542200.1  erythroid transcription factor isoform X2

      Conserved Domains (2) summary
      smart00401
      Location:119164
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      cd00202
      Location:120164
      ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      48676125..48683862
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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