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Description for Protein GATA1

GATA binding protein 1 (globin transcription factor 1)
41 total interacting proteins; 12 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(undefined: 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] (PubMed Links)
Domains and Motifs:
  • ZNF_GATA: zinc finger binding to DNA consensus sequence [AT]GATA[AG]

  • Gene Ontology:
    Gene Ontology Annotations

    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K09182
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Eryf1 transcription factor; Erythroid transcription factor 1; ERYF1; Globin transcription factor 1; GF1; NF E1; Transcription factor GATA1
    Approved Symbol:
    GATA1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 11
    Human (de-) phosphorylation sites: 11; No platelet phosphorylation sites

    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available


    Associated Genetic Diseases:

  • Anemia, X-linked, without thrombocytopenia(Pd);
  • Dyserythropoietic anemia with thrombocytopenia(Pd);
  • Leukemia, megakaryoblastic(Pd);
  • Leukemia, megakaryoblastic, of down syndrome(Pd);
  • Macrothrombocytopenia, X-linked(Pd);
  • Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis(Pd)
  • Predicted Transmembrane Domains:
  • Isoform 1 : 0
  • Additional Identifiers:

    HPRD: 02372 Entrez Gene ID: 2623 OMIM ID: 305371 Swissprot Accession: P15976