SMAD4 Antibody

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, Oct 2009]

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: Transcription, coactivator/corepressor; DNA-binding; Nuclear receptor co-regulator

Chromosomal Location of Human Ortholog: 18q21.1

Cellular Component: cytoplasm; cytosol; nuclear chromatin; nucleoplasm; nucleus; transcription factor complex

Molecular Function: chromatin binding; collagen binding; DNA binding; identical protein binding; metal ion binding; protein binding; protein heterodimerization activity; protein homodimerization activity; sequence-specific DNA binding; transcription factor activity; transforming growth factor beta receptor, common-partner cytoplasmic mediator activity

Biological Process: axon guidance; BMP signaling pathway; cell proliferation; cellular iron ion homeostasis; developmental growth; embryonic digit morphogenesis; endoderm development; endothelial cell activation; formation of anatomical boundary; gastrulation with mouth forming second; in utero embryonic development; mesoderm development; negative regulation of cell growth; negative regulation of cell proliferation; negative regulation of protein catabolic process; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; neural crest cell differentiation; neuron fate commitment; ovarian follicle development; palate development; positive regulation of BMP signaling pathway; positive regulation of follicle-stimulating hormone secretion; positive regulation of histone H3-K4 methylation; positive regulation of luteinizing hormone secretion; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of transforming growth factor beta receptor signaling pathway; regulation of binding; regulation of hair follicle development; regulation of transforming growth factor beta receptor signaling pathway; regulation of transforming growth factor-beta2 production; response to hypoxia; sebaceous gland development; single fertilization; SMAD protein complex assembly; somatic stem cell maintenance; somite rostral/caudal axis specification; spermatogenesis; transcription from RNA polymerase II promoter; transforming growth factor beta receptor signaling pathway; ureteric bud branching; uterus development

Disease: Juvenile Polyposis Syndrome; Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome; Myhre Syndrome; Pancreatic Cancer