Mothers against decapentaplegic homolog 1

SMAD1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1KHU, 2LAW, 2LAX, 2LAY, 2LAZ, 2LB0, 2LB1, 3Q47, 3Q4A
Identifiers
Aliases	SMAD1, BSP-1, BSP1, JV4-1, JV41, MADH1, MADR1, SMAD family member 1
External IDs	OMIM: 601595 MGI: 109452 HomoloGene: 21196 GeneCards: SMAD1
Gene ontology Molecular function • DNA binding • co-SMAD binding • signal transducer activity, downstream of receptor • protein homodimerization activity • I-SMAD binding • transcription factor activity, sequence-specific DNA binding • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding • metal ion binding • transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity • RNA polymerase II core promoter proximal region sequence-specific DNA binding • protein binding • identical protein binding • protein heterodimerization activity • protein kinase binding • RNA polymerase II core promoter sequence-specific DNA binding • primary miRNA binding Cellular component • cytoplasm • integral component of membrane • SMAD protein complex • cytosol • transcription factor complex • intracellular • nucleoplasm • protein complex • nuclear inner membrane • nucleus Biological process • positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus • SMAD protein complex assembly • ureteric bud development • regulation of transcription, DNA-templated • SMAD protein signal transduction • embryonic pattern specification • regulation of transcription from RNA polymerase II promoter • cellular response to organic cyclic compound • hindbrain development • cellular response to BMP stimulus • cardiac muscle cell proliferation • BMP signaling pathway • transcription, DNA-templated • MAPK cascade • protein phosphorylation • gamete generation • cartilage development • positive regulation of gene expression • positive regulation of osteoblast differentiation • positive regulation of cartilage development • primary miRNA processing • mesodermal cell fate commitment • inflammatory response • bone development • transforming growth factor beta receptor signaling pathway • midbrain development • signal transduction • negative regulation of cell proliferation • positive regulation of transcription from RNA polymerase II promoter • osteoblast fate commitment • homeostatic process • transcription from RNA polymerase II promoter • positive regulation of pri-miRNA transcription from RNA polymerase II promoter 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_005900	NM_008539
RefSeq (protein)	NP_001003688.1 NP_005891.1	NP_032565.2
Location (UCSC)	Chr 4: 145.48 – 145.56 Mb	Chr 8: 79.34 – 79.4 Mb
PubMed search	[1]	[2]
Wikidata

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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.^[3][4]

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; and based on a tradition of such unusual naming within the gene research community.^[5]

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.^[6]

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.^[7]

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

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. 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.
4. 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". Nature Genetics. 13 (3): 347–9. doi:10.1038/ng0796-347. PMID 8673135.
5. "Sonic Hedgehog, DICER, and the Problem With Naming Genes", Sep 26, 2014, Michael White. psmag.com
6. "Interactive fly, Drosophila".
7. "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.