Aliases for SMAD1 Gene
External Ids for SMAD1 Gene
Previous HGNC Symbols for SMAD1 Gene
Previous GeneCards Identifiers for SMAD1 Gene
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]
GeneCards Summary for SMAD1 Gene
SMAD1 (SMAD Family Member 1) is a Protein Coding gene. Diseases associated with SMAD1 include charcot-marie-tooth disease, type 2d and neuropathy, distal hereditary motor, type va. Among its related pathways are Signaling by GPCR and TGF-Beta Pathway. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and protein kinase binding. An important paralog of this gene is SMAD2.
UniProtKB/Swiss-Prot for SMAD1 Gene
Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD1 is a receptor-regulated SMAD (R-SMAD). SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1. May act synergistically with SMAD4 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression.