SMAD1
LOCUS ID4086
GENE_SYMBOLSMAD1
GENE NAMESMAD family member 1
SYNONYMNSBSP1, JV41, BSP-1, JV4-1, MADH1, MADR1
CHROMOSOME4
HOMOLOGENE ID21196
microRNAsNANA
GENE SUMMARY
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 sigls 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 ubiquitition and proteasome-mediated degradation. Altertively spliced transcript variants encoding the same protein h

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. Smad1 has previously been shown to play a key role in the development of diabetic nephropathy (DN), by increasing synthesis of extracellular matrix. These results provide a new evidence that the TCF7L2/ALK1/Smad1 pathway plays a key role in the development of DN.20803090