Mothers against decapentaplegic homolog 1

Mothers Against Decapentaplegic Homolog 1 (also known as SMAD1) is a protein that in humans is encoded by the SMAD1 gene. SMAD1 is a member of the SMAD family, which are signal transducers and transcriptional modulators that mediate multiple signaling pathways.

Function

SMAD1 is a receptor-regulated SMAD (R-SMAD) and is activated by bone morphogenetic protein type 1 receptor kinase. It is a key player in the BMP signaling pathway, which regulates the growth and differentiation of cells and tissues. Once activated, SMAD1 forms a complex with SMAD4, which is then able to enter the nucleus and regulate the transcription of target genes.

Clinical Significance

Mutations in the SMAD1 gene have been associated with various diseases, including juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia. In addition, overexpression of SMAD1 has been observed in certain types of cancer, suggesting a potential role in tumorigenesis.

Structure

The SMAD1 protein consists of two main domains: the MH1 domain and the MH2 domain. The MH1 domain is responsible for DNA binding, while the MH2 domain is involved in protein-protein interactions.

Interactions

SMAD1 has been shown to interact with a variety of other proteins, including:

• BMPR2
• SMAD4
• SMAD5
• SMAD9
• ZFYVE9

See Also

• SMAD
• Bone morphogenetic protein
• TGF beta signaling pathway