Mothers against decapentaplegic homolog 6

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SMAD6
Identifiers
Aliases SMAD6, AOVD2, HsT17432, MADH6, MADH7, SMAD family member 6
External IDs OMIM: 602931 MGI: 1336883 HomoloGene: 4079 GeneCards: SMAD6
RNA expression pattern
PBB GE SMAD6 207069 s at fs.png

PBB GE SMAD6 209886 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001142861
NM_005585

NM_008542

RefSeq (protein)

NP_005576

NP_032568.3
NP_032568

Location (UCSC) Chr 15: 66.7 – 66.78 Mb Chr 9: 63.95 – 64.02 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

SMAD family member 6, also known as SMAD6, is a protein that in humans is encoded by the SMAD6 gene.[3]

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[edit]

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 since mothers often form 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.[4]

Disease associations[edit]

Heterozygous, damaging mutations in SMAD6 are the most frequent genetic cause of non-syndromic craniosynostosis identified to date. [5]

Interactions[edit]

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


References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ "Entrez Gene: SMAD6 SMAD family member 6". 
  4. ^ "Sonic Hedgehog, DICER, and the Problem With Naming Genes", Sep 26, 2014, Michael White. psmag.com
  5. ^ Timberlake AT et al. (2016). "Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles". eLife. doi:10.7554/eLife.20125. 
  6. ^ Bai S, Shi X, Yang X, Cao X (March 2000). "Smad6 as a transcriptional corepressor". J. Biol. Chem. 275 (12): 8267–70. doi:10.1074/jbc.275.12.8267. PMID 10722652. 
  7. ^ Kimura N, Matsuo R, Shibuya H, Nakashima K, Taga T (June 2000). "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. doi:10.1074/jbc.M908622199. PMID 10748100. 
  8. ^ Yanagisawa M, Nakashima K, Takeda K, Ochiai W, Takizawa T, Ueno M, Takizawa M, Shibuya H, Taga T (December 2001). "Inhibition of BMP2-induced, TAK1 kinase-mediated neurite outgrowth by Smad6 and Smad7". Genes Cells. 6 (12): 1091–9. doi:10.1046/j.1365-2443.2001.00483.x. PMID 11737269. 
  9. ^ Topper JN, Cai J, Qiu Y, Anderson KR, Xu YY, Deeds JD, Feeley R, Gimeno CJ, Woolf EA, Tayber O, Mays GG, Sampson BA, Schoen FJ, Gimbrone MA, Falb D (August 1997). "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. doi:10.1073/pnas.94.17.9314. PMC 23174Freely accessible. PMID 9256479. 
  10. ^ Imoto S, Sugiyama K, Muromoto R, Sato N, Yamamoto T, Matsuda T (September 2003). "Regulation of transforming growth factor-beta signaling by protein inhibitor of activated STAT, PIASy through Smad3". J. Biol. Chem. 278 (36): 34253–8. doi:10.1074/jbc.M304961200. PMID 12815042. 
  11. ^ Datta PK, Moses HL (May 2000). "STRAP and Smad7 synergize in the inhibition of transforming growth factor beta signaling". Mol. Cell. Biol. 20 (9): 3157–67. doi:10.1128/MCB.20.9.3157-3167.2000. PMC 85610Freely accessible. PMID 10757800. 

Further reading[edit]