Mothers against decapentaplegic homolog 1

SMAD family member 1
PDB rendering based on 1khu.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 1KHU​, 2LAW​, 2LAX​, 2LAY​, 2LAZ​, 2LB0​, 2LB1​, 3Q47​, 3Q4A​
Identifiers
Symbols	SMAD1 ; BSP-1; BSP1; JV4-1; JV41; MADH1; MADR1
External IDs	OMIM: 601595 MGI: 109452 HomoloGene: 21196 GeneCards: SMAD1 Gene
Gene ontology Molecular function • RNA polymerase II core promoter proximal region sequence-specific DNA binding • RNA polymerase II core promoter sequence-specific DNA binding • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding • transcription factor activity, sequence-specific DNA binding • receptor signaling protein activity • protein binding • protein kinase binding • transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity • identical protein binding • protein homodimerization activity • metal ion binding • protein heterodimerization activity • co-SMAD binding • I-SMAD binding Cellular component • intracellular • nucleus • nuclear inner membrane • nucleoplasm • transcription factor complex • cytoplasm • cytosol • integral component of membrane • protein complex • SMAD protein complex Biological process • MAPK cascade • ureteric bud development • mesodermal cell fate commitment • osteoblast fate commitment • transcription from RNA polymerase II promoter • inflammatory response • signal transduction • transforming growth factor beta receptor signaling pathway • SMAD protein complex assembly • gamete generation • negative regulation of cell proliferation • embryonic pattern specification • positive regulation of gene expression • BMP signaling pathway • midbrain development • hindbrain development • primary miRNA processing • homeostatic process • positive regulation of osteoblast differentiation • positive regulation of transcription from RNA polymerase II promoter • cartilage development • cardiac muscle cell proliferation • bone development • SMAD protein signal transduction • positive regulation of cartilage development • cellular response to BMP stimulus • positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	4086	17125
Ensembl	ENSG00000170365	ENSMUSG00000031681
UniProt	Q15797	P70340
RefSeq (mRNA)	NM_001003688	NM_008539
RefSeq (protein)	NP_001003688	NP_032565
Location (UCSC)	Chr 4: 145.48 – 145.56 Mb	Chr 8: 79.34 – 79.4 Mb
PubMed search

Mothers against decapentaplegic homolog 1 also known as SMAD family member 1 or SMAD1 is a protein that in humans is encoded by the SMAD1 gene.^[1][2]

Nomenclature

SMAD1 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. The name is a combination of the two. It was found that a mutation in the 'Drosophila' gene, MAD, in the mother, repressed the gene, decapentaplegic, in the embryo. Mad mutations can be placed in an allelic series based on the relative severity of the maternal effect enhancement of weak dpp alleles, thus explaining the name Mothers against dpp.^[3]

Function

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.^[4]

SMAD1 is a receptor regulated SMAD (R-SMAD) and is activated by bone morphogenetic protein type 1 receptor kinase.

References

1. Hoodless PA, Haerry T, Abdollah S, Stapleton M, O'Connor MB, Attisano L, Wrana JL (May 1996). "MADR1, a MAD-related protein that functions in BMP2 signaling pathways". Cell 85 (4): 489–500. doi:10.1016/S0092-8674(00)81250-7. PMID 8653785.
2. Riggins GJ, Thiagalingam S, Rozenblum E, Weinstein CL, Kern SE, Hamilton SR, Willson JK, Markowitz SD, Kinzler KW, Vogelstein B (July 1996). "Mad-related genes in the human". Nat. Genet. 13 (3): 347–9. doi:10.1038/ng0796-347. PMID 8673135.
3. "Interactive fly, Drosophila".
4. "Entrez Gene: SMAD1 SMAD family member 1".

External links

• Drosophila Mothers against dpp - The Interactive Fly
• Smad1 Protein at the US National Library of Medicine Medical Subject Headings (MeSH)
• SMAD1 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.