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Description for Protein NKX2-1

NK2 homeobox 1
14 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression of genes involved in morphogenesis. Mutations and deletions in this gene are associated with benign hereditary chorea, choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress, and may be associated with thyroid cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • HOX: Homeodomain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K09342
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Thyroid transcription factor 1; TTF1; Thyroid nuclear factor; NKX2A; Thyroid specific enhancer binding protein TEBP; Homeobox protein Nkx 2.1; NKX2.1; Thyroid transcription factor 1 isoform 1
    Approved Symbol:
    NKX2-1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 2
    Human (de-) phosphorylation sites: 2; 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:

  • Chorea, benign hereditary(Pd);
  • Choreoathetosis, hypothyroidism, and respiratory distress(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02798 Entrez Gene ID: 7080 OMIM ID: 600635 Swissprot Accession: P43699;