MADH7 est un gène codé par le symbole SMAD7. Communément appelé aussi: Mothers against decapentaplegic homolog 7; MAD homolog 7; Mothers against decapentaplegic homolog 8; MAD homolog 8; SMAD family member 7; SMAD 7; SMAD7; MADH8. MADH7 a une masse de 46.43kDa, une longueur d'acide aminé de 426, et est impliqué dans Colorectal cancer 3.
Nous proposons 2 des anticorps contre MADH7, élevé dans Lapin, qui sont appropriés pour le WB et IHC avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
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.
Résumé Entrez
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.
Spécificité tissulaire
Ubiquitous with higher expression in the lung and vascular endothelium.
Implication dans la maladie
Colorectal cancer 3: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.
Similitudes de séquence
Belongs to the dwarfin/SMAD family.
Modification post-traductionnelle
Phosphorylation on Ser-249 does not affect its stability, nuclear localization or inhibitory function in TGFB signaling; however it affects its ability to regulate transcription (By similarity). Phosphorylated by PDPK1.
Localisation cellulaire
Nucleus. Cytoplasm.
Interaction with NEDD4L or RNF111 induces translocation from the nucleus to the cytoplasm (PubMed:16601693). TGF-beta stimulates its translocation from the nucleus to the cytoplasm. PDPK1 inhibits its translocation from the nucleus to the cytoplasm in response to TGF-beta (PubMed:17327236).
