E3 ubiquitin-protein ligase required for mesoderm patterning during embryonic development. Acts as an enhancer of the transcriptional responses of the smad2/smad3 effectors, which are activated downstr...[+]

E3 ubiquitin-protein ligase required for mesoderm patterning during embryonic development. Acts as an enhancer of the transcriptional responses of the smad2/smad3 effectors, which are activated downstream of BMP. Acts by mediating ubiquitination and degradation of SMAD inhibitors such as smad7, inducing their proteasomal degradation and thereby enhancing the transcriptional activity of TGF-beta and BMP. Specifically binds polysumoylated chains via SUMO interaction motifs (SIMs) and mediates ubiquitination of sumoylated substrates. The regulation of the BMP-SMAD signaling is however independent of sumoylation and is not dependent of SUMO interaction motifs (SIMs). [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD