Mothers Against Decapentaplegic Homolog 7 (SMAD7) ELISA Kit for Rabbit

The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

SMAD7: Antagonist of signaling by TGF-beta (transforming growth factor) type 1 receptor superfamily members; has been shown to inhibit TGF-beta (Transforming growth factor) and activin signaling by associating with their receptors thus preventing SMAD2 access. Functions as an adapter to recruit SMURF2 to the TGF-beta receptor complex. Also acts by recruiting the PPP1R15A- PP1 complex to TGFBR1, which promotes its dephosphorylation. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator. Genetic variations in SMAD7 influence susceptibility to colorectal cancer type 3 (CRCS3). Colorectal cancer consists of tumors or cancer of either the colon or rectum or both. Cancers of the large intestine are the second most common form of cancer found in males and females. Symptoms include rectal bleeding, occult blood in stools, bowel obstruction and weight loss. Treatment is based largely on the extent of cancer penetration into the intestinal wall. Surgical cures are possible if the malignancy is confined to the intestine. Risk can be reduced when following a diet which is low in fat and high in fiber. Belongs to the dwarfin/SMAD family.

Protein type: DNA-binding; Transcription factor

Chromosomal Location of Human Ortholog: 18q21.1

Cellular Component: nucleoplasm; transcription factor complex; cell-cell adherens junction; protein complex; cytoplasm; plasma membrane; catenin complex; cytosol; nucleus

Molecular Function: collagen binding; protein binding; ubiquitin protein ligase binding; metal ion binding; beta-catenin binding; activin binding; transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity; transcription factor activity

Biological Process: transcription initiation from RNA polymerase II promoter; protein stabilization; transcription, DNA-dependent; negative regulation of transcription factor activity; negative regulation of peptidyl-serine phosphorylation; negative regulation of transcription from RNA polymerase II promoter; regulation of activin receptor signaling pathway; negative regulation of BMP signaling pathway; BMP signaling pathway; regulation of transforming growth factor beta receptor signaling pathway; positive regulation of protein ubiquitination; ureteric bud development; transforming growth factor beta receptor signaling pathway; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; positive regulation of cell-cell adhesion; negative regulation of ubiquitin-protein ligase activity; artery morphogenesis; ventricular cardiac muscle morphogenesis; negative regulation of protein ubiquitination; gene expression; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transforming growth factor beta receptor signaling pathway; negative regulation of cell migration

Disease: Colorectal Cancer, Susceptibility To, 3