SMAD9 Recombinant Protein

The protein encoded by this gene is a member of the SMAD family, which transduces signals from TGF-beta family members. The encoded protein is activated by bone morphogenetic proteins and interacts with SMAD4. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]

Function: Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD9 is a receptor-regulated SMAD (R-SMAD).

Subunit structure: Interaction with the co-SMAD SMAD4. Interacts with PEBP2-alpha subunit.

Subcellular location: Cytoplasm

By similarity. Nucleus

By similarity. Note: In the cytoplasm in the absence of ligand. Migration to the nucleus when complexed with SMAD4

By similarity.

Tissue specificity: Expressed in heart, brain, placenta, lung, skeletal muscle, prostate, testis, ovary and small intestine. Also expressed in fetal brain, lung and kidney.

Post-translational modification: Phosphorylated on serine by BMP (bone morphogenetic proteins) type 1 receptor kinase.

Involvement in disease: Pulmonary hypertension, primary, 2 (PPH2) [MIM:615342]: A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs.Note: The disease may be caused by mutations affecting the gene represented in this entry. Ref.9

Sequence similarities: Belongs to the dwarfin/SMAD family.Contains 1 MH1 (MAD homology 1) domain.Contains 1 MH2 (MAD homology 2) domain.