Biology:Mothers against decapentaplegic homolog 1

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

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.[citation needed] The name is a combination of the two; and based on a tradition of such unusual naming within the gene research community.[3]

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.[4]

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.[5]

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

References

  1. "MADR1, a MAD-related protein that functions in BMP2 signaling pathways". Cell 85 (4): 489–500. May 1996. doi:10.1016/S0092-8674(00)81250-7. PMID 8653785. 
  2. "Mad-related genes in the human". Nature Genetics 13 (3): 347–9. July 1996. doi:10.1038/ng0796-347. PMID 8673135. 
  3. "Sonic Hedgehog, DICER, and the Problem With Naming Genes", Sep 26, 2014, Michael White. psmag.com
  4. "Interactive fly, Drosophila". http://www.sdbonline.org/fly/newgene/mothadpp.htm. 
  5. "Entrez Gene: SMAD1 SMAD family member 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4086. 

External links

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