Rabbit anti-Human Smad1 Polyclonal Antibody

Uniprot Id

Q15797

Target Species

Human

Target Name

SMAD1

Target Full Name

Mothers against decapentaplegic homolog 1

Target Function

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.

Target Involvement

SMAD1 variants may be associated with susceptibility to pulmonary hypertension, a 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.

Target Subcellular Location

Cytoplasm. Nucleus.

Target Protein Families

Dwarfin/SMAD family

Target Tissue Specificity

Ubiquitous. Highest expression seen in the heart and skeletal muscle.

Target Synonyms

BSP-1; BSP1; HsMAD1; JV4-1; JV41; MAD homolog 1; MAD mothers against decapentaplegic homolog 1; Mad related protein 1; Mad-related protein 1; MADH1; MADR1; Mothers against decapentaplegic homolog 1; Mothers against DPP homolog 1; SMA- AND MAD-RELATED PROTEIN 1; SMAD 1; SMAD family member 1; SMAD mothers against DPP homolog 1; Smad1; SMAD1_HUMAN; TGF beta signaling protein 1; Transforming growth factor-beta-signaling protein 1

Target 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.