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

    Gene ID: 2623, updated on 1-Mar-2024

    Summary

    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; AllianceGenome:HGNC:4170
    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; HAEADA
    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]
    Expression
    Biased expression in bone marrow (RPKM 18.9) and placenta (RPKM 0.5) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See GATA1 in Genome Data Viewer
    Location:
    Xp11.23
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (48786590..48794311)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (48197083..48204804)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48644998..48652718)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-FlowFISH-validated GATA1 regulatory element 1 Neighboring gene Sharpr-MPRA regulatory region 5097 Neighboring gene glyoxalase domain containing 5 Neighboring gene ACAA2 pseudogene 1 Neighboring gene RNA, U6 small nuclear 29, pseudogene Neighboring gene CRISPRi-validated e-GATA1 enhancer Neighboring gene CRISPRi-FlowFISH-validated GATA1, HDAC6 and PLP2 regulatory element 1 Neighboring gene CRISPRi-FlowFISH-validated HDAC6, PLP2 and PQBP1 regulatory element Neighboring gene CRISPRi-FlowFISH-validated PLP2 regulatory element 5 Neighboring gene CRISPRi-FlowFISH-validated PLP2 regulatory element 6 Neighboring gene CRISPRi-FlowFISH-validated PQBP1 regulatory element 1 Neighboring gene CRISPRi-FlowFISH-validated PLP2 regulatory element 7 Neighboring gene CRISPRi-validated e-HDAC6 enhancer Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:48659902-48660415 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29613 Neighboring gene histone deacetylase 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20823 Neighboring gene ES cell expressed Ras

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables C2H2 zinc finger domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables chromatin DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables p53 binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription cis-regulatory region binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables transcription coactivator binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables transcription coregulator binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in Sertoli cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in animal organ regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in basophil differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in bone mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell fate commitment IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell-cell signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to cAMP IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to follicle-stimulating hormone stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dendritic cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in eosinophil differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in eosinophil fate commitment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in erythrocyte development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in erythrocyte differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in homeostasis of number of cells within a tissue IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in male gonad development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in megakaryocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in myeloid cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of bone mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of myeloid cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in osteoblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in platelet aggregation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in platelet formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cytosolic calcium ion concentration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of erythrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of mast cell degranulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of osteoblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of peptidyl-tyrosine phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in primitive erythrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of definitive erythrocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of glycoprotein biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of primitive erythrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-DNA complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription regulator complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription repressor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_002049.4NP_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, Q96GB8
      UniProtKB/TrEMBL
      A0A8Q3SIN3
      Related
      ENSP00000365858.3, ENST00000376670.9
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      48786590..48794311
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      48197083..48204804
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)