Background

The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signals of the bone morphogenetic proteins (BMPs), which are involved in a range of biological activities including cell growth, apoptosis, morphogenesis, development and immune responses. In response to BMP ligands, this protein can be phosphorylated and activated by the BMP receptor kinase. The phosphorylated form of this protein forms a complex with SMAD4, which is important for its function in the transcription regulation. This protein is a target for SMAD-specific E3 ubiquitin ligases, such as SMURF1 and SMURF2, and undergoes ubiquitination and proteasome-mediated degradation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008] SMAD1 (SMAD Family Member 1) is a Protein Coding gene. Diseases associated with SMAD1 include Buschke-Ollendorff Syndrome and Osteopoikilosis. Among its related pathways are Gene expression (Transcription) and TGF-beta receptor signaling in skeletal dysplasias. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein kinase binding. An important paralog of this gene is SMAD5.