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Description for Protein TWIST1

twist homolog 1 (Drosophila)
9 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. The protein encoded by this gene is a bHLH transcription factor and shares similarity with another bHLH transcription factor, Dermo1. The strongest expression of this mRNA is in placental tissue; in adults, mesodermally derived tissues express this mRNA preferentially. Mutations in this gene have been found in patients with Saethre-Chotzen syndrome. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • HLH: helix loop helix domain

  • Gene Ontology:
    Gene Ontology Annotations

    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K09069
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Transcription factor twist; H-Twist
    Approved Symbol:
    TWIST1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 4
    Human (de-) phosphorylation sites: 4; 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:

  • Robinow-Sorauf syndrome(Pd);
  • Saethre-Chotzen syndrome(Pd);
  • Saethre-Chotzen syndrome with eyelid anomalies(Pd)
  • Predicted Transmembrane Domains:
  • Isoform 1 : 0
  • Additional Identifiers:

    HPRD: 03374 Entrez Gene ID: 7291 OMIM ID: 601622 Swissprot Accession: Q15672