Version: 8.0.0
Date: Tue Jan 28 2025
GATA1
Homo sapiensHGNC:4170
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

GATA1

Species
Homo sapiens
Symbol
GATA1
Name
GATA binding protein 1
Synonyms
  • CNSHA9
  • ERYF1
Biotype
protein coding gene
Automated Description
Enables several functions, including C2H2 zinc finger domain binding activity; DNA binding activity; and DNA-binding transcription activator activity, RNA polymerase II-specific. Involved in several processes, including myeloid cell differentiation; regulation of erythrocyte differentiation; and regulation of primary metabolic process. Located in nucleoplasm. Part of protein-DNA complex and transcription repressor complex. Implicated in several diseases, including X-linked recessive disease (multiple); beta thalassemia; colon adenocarcinoma; depressive disorder; and hematologic cancer (multiple). Biomarker of clear cell renal cell carcinoma; colorectal cancer; hematologic cancer (multiple); lung cancer; and major depressive disorder.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10071
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
      Has Disease Annotations
      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          GATA1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            GATA1 role
            GATA1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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