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Description for Protein SMAD4

SMAD family member 4
170 total interacting proteins; 58 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to TGF-beta signaling. The product of this gene forms homomeric complexes and heteromeric complexes with other activated Smad proteins, which then accumulate in the nucleus and regulate the transcription of target genes. This protein binds to DNA and recognizes an 8-bp palindromic sequence (GTCTAGAC) called the Smad-binding element (SBE). The Smad proteins are subject to complex regulation by post-translational modifications. Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04501
    KEGG - Pathway(s):
    hsa04110; hsa04310; hsa04350; hsa04520; hsa05200; hsa05210; hsa05212; hsa05220
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    SMA and MAD related protein 4; Deletion target in pancreatic carcinoma 4; DPC4; MADH4
    Approved Symbol:
    SMAD4
    (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:

  • Juvenile polyposis syndrome(Pd);
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome(Pd);
  • Pancreatic carcinoma(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02995 Entrez Gene ID: 4089 OMIM ID: 600993 Swissprot Accession: Q13485;