Biology:Mothers against decapentaplegic homolog 6

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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

SMAD family member 6, also known as SMAD6, is a protein that in humans is encoded by the SMAD6 gene.[1]

SMAD6 is a protein that, as its name describes, is a homolog of the Drosophila gene "mothers against decapentaplegic". It belongs to the SMAD family of proteins, which belong to the TGFβ superfamily of modulators. Like many other TGFβ family members SMAD6 is involved in cell signalling. It acts as a regulator of TGFβ family (such as bone morphogenetic proteins) activity by competing with SMAD4 and preventing the transcription of SMAD4's gene products. There are two known isoforms of this protein.

Nomenclature

The SMAD proteins are homologs of both the drosophila protein, mothers against decapentaplegic (MAD) and the C. elegans protein SMA. The name is a combination of the two. During Drosophila research, it was found that a mutation in the gene MAD in the mother repressed the gene decapentaplegic in the embryo. The phrase "Mothers against" was added as a humorous take-off on organizations opposing various issues e.g., Mothers Against Drunk Driving, or MADD; and based on a tradition of such unusual naming within the gene research community.[2]

Disease associations

Heterozygous, damaging mutations in SMAD6 are the most frequent genetic cause of non-syndromic craniosynostosis identified to date.[3]

Interactions

Mothers against decapentaplegic homolog 6 has been shown to interact with:


References

  1. "Entrez Gene: SMAD6 SMAD family member 6". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4091. 
  2. "Sonic Hedgehog, DICER, and the Problem With Naming Genes", Sep 26, 2014, Michael White. psmag.com
  3. "BMP2 alleles". eLife 5. September 2016. doi:10.7554/eLife.20125. PMID 27606499. 
  4. "Smad6 as a transcriptional corepressor". J. Biol. Chem. 275 (12): 8267–70. March 2000. doi:10.1074/jbc.275.12.8267. PMID 10722652. 
  5. "BMP2-induced apoptosis is mediated by activation of the TAK1-p38 kinase pathway that is negatively regulated by Smad6". J. Biol. Chem. 275 (23): 17647–52. June 2000. doi:10.1074/jbc.M908622199. PMID 10748100. 
  6. "Inhibition of BMP2-induced, TAK1 kinase-mediated neurite outgrowth by Smad6 and Smad7". Genes Cells 6 (12): 1091–9. December 2001. doi:10.1046/j.1365-2443.2001.00483.x. PMID 11737269. 
  7. "Vascular MADs: two novel MAD-related genes selectively inducible by flow in human vascular endothelium". Proc. Natl. Acad. Sci. U.S.A. 94 (17): 9314–9. August 1997. doi:10.1073/pnas.94.17.9314. PMID 9256479. Bibcode1997PNAS...94.9314T. 
  8. "Regulation of transforming growth factor-beta signaling by protein inhibitor of activated STAT, PIASy through Smad3". J. Biol. Chem. 278 (36): 34253–8. September 2003. doi:10.1074/jbc.M304961200. PMID 12815042. 
  9. "STRAP and Smad7 synergize in the inhibition of transforming growth factor beta signaling". Mol. Cell. Biol. 20 (9): 3157–67. May 2000. doi:10.1128/MCB.20.9.3157-3167.2000. PMID 10757800. 

Further reading