Mothers against decapentaplegic homolog 1

SMAD family member 1
PDB rendering based on 1khu.
Available structures PDB 1khu
Identifiers
Symbols	SMAD1; BSP1; JV4-1; JV41; MADH1; MADR1
External IDs	OMIM: 601595 MGI: 109452 HomoloGene: 21196 GeneCards: SMAD1 Gene
Gene Ontology Molecular function • sequence-specific DNA binding transcription factor activity • receptor signaling protein activity • protein binding • protein kinase binding • transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity • identical protein binding • co-SMAD binding • I-SMAD binding Cellular component • intracellular • nucleus • nucleus • nucleus • nuclear inner membrane • nucleoplasm • nucleoplasm • transcription factor complex • cytoplasm • cytosol • cytosol • integral to membrane Biological process • MAPKKK cascade • ureteric bud development • mesodermal cell fate commitment • kidney development • osteoblast fate commitment • transcription, DNA-dependent • regulation of transcription, DNA-dependent • protein phosphorylation • 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 • response to organic nitrogen • positive regulation of gene expression • BMP signaling pathway • BMP signaling pathway • BMP signaling pathway • BMP signaling pathway • midbrain development • hindbrain development • primary microRNA processing • wound healing • response to drug • homeostatic process • positive regulation of osteoblast differentiation • positive regulation of anti-apoptosis • positive regulation of transcription from RNA polymerase II promoter • positive regulation of dendrite morphogenesis • positive regulation of cartilage development • cellular response to organic cyclic compound Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	4086	17125
Ensembl	ENSG00000170365	ENSMUSG00000031681
UniProt	Q15797	Q6GT95
RefSeq (mRNA)	NM_001003688.1	NM_008539.3
RefSeq (protein)	NP_001003688.1	NP_032565.2
Location (UCSC)	Chr 4: 146.4 – 146.48 Mb	Chr 8: 81.86 – 81.92 Mb
PubMed search	[1]	[2]

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. The phrase "Mothers against" was added as a humorous approach since mothers often form organizations opposing various issues e.g. Mothers Against Drunk Driving or (MADD).

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.^[3]

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. ^ "Entrez Gene: SMAD1 SMAD family member 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4086. 

External links

• Drosophila Mothers against dpp - The Interactive Fly
• MeSH Smad1+Protein
• MeSH SMAD1+protein,+human

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