SMAD4: transcription factor that mediates signal transduction by the transforming growth factor superfamily. The common smad (co-smad). Binds directly to consensus DNA-binding elements in the promoters of target genes. Promotes binding of the Smad2/Smad4/Fast-1 complex to DNA and provides an activation function required for Smad1 or Smad2 to stimulate transcription.
Protein type: DNA-binding; Transcription, coactivator/corepressor; Nuclear receptor co-regulator
Chromosomal Location of Human Ortholog: 18q21.1
Cellular Component: nucleoplasm; centrosome; transcription factor complex; nuclear chromatin; cytoplasm; cytosol; nucleus
Molecular Function: collagen binding; identical protein binding; protein binding; protein homodimerization activity; transforming growth factor beta receptor, common-partner cytoplasmic mediator activity; DNA binding; sequence-specific DNA binding; metal ion binding; chromatin binding; transcription factor activity
Biological Process: axon guidance; developmental growth; somatic stem cell maintenance; positive regulation of transcription, DNA-dependent; sebaceous gland development; negative regulation of transcription from RNA polymerase II promoter; palate development; BMP signaling pathway; negative regulation of cell proliferation; regulation of transforming growth factor beta receptor signaling pathway; transforming growth factor beta receptor signaling pathway; mesoderm development; neural crest cell differentiation; positive regulation of BMP signaling pathway; transcription initiation from RNA polymerase II promoter; regulation of transforming growth factor-beta2 production; regulation of binding; transcription, DNA-dependent; in utero embryonic development; neuron fate commitment; positive regulation of transforming growth factor beta receptor signaling pathway; gastrulation with mouth forming second; somite rostral/caudal axis specification; SMAD protein complex assembly; formation of anatomical boundary; endothelial cell activation; cell proliferation; ureteric bud branching; response to hypoxia; positive regulation of transcription from RNA polymerase II promoter; gene expression; regulation of hair follicle development; negative regulation of cell growth; negative regulation of protein catabolic process; negative regulation of transcription, DNA-dependent; endoderm development
Disease: Pancreatic Cancer; Juvenile Polyposis Syndrome; Myhre Syndrome; Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome
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