Mothers against decapentaplegic homolog 6
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Location (UCSC) | Chr 15: 66.7 – 66.78 Mb | Chr 9: 63.86 – 63.93 Mb | |||||||
PubMed search | [3] | [4] |
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.[5]
SMAD6 is a protein that, as its name describes, is a homolog of the
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.[6]
Disease associations
Heterozygous, damaging mutations in SMAD6 are the most frequent genetic cause of non-syndromic craniosynostosis identified to date.[7]
Interactions
Mothers against decapentaplegic homolog 6 has been shown to
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000137834 - Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036867 - Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: SMAD6 SMAD family member 6".
- ^ "Sonic Hedgehog, DICER, and the Problem With Naming Genes", Sep 26, 2014, Michael White. psmag.com
- PMID 27606499.
- PMID 10722652.
- PMID 10748100.
- S2CID 25476125.
- PMID 9256479.
- PMID 12815042.
- PMID 10757800.
Further reading
- Massagué J (1998). "TGF-beta signal transduction". Annu. Rev. Biochem. 67: 753–91. PMID 9759503.
- Verschueren K, Huylebroeck D (2000). "Remarkable versatility of Smad proteins in the nucleus of transforming growth factor-beta activated cells". Cytokine Growth Factor Rev. 10 (3–4): 187–99. PMID 10647776.
- Wrana JL, Attisano L (2000). "The Smad pathway". Cytokine Growth Factor Rev. 11 (1–2): 5–13. PMID 10708948.
- Miyazono K (2000). "TGF-beta signaling by Smad proteins". Cytokine Growth Factor Rev. 11 (1–2): 15–22. PMID 10708949.
- Riggins GJ, Thiagalingam S, Rozenblum E, Weinstein CL, Kern SE, Hamilton SR, Willson JK, Markowitz SD, Kinzler KW, Vogelstein B (1996). "Mad-related genes in the human". Nat. Genet. 13 (3): 347–9. S2CID 10124489.
- 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 (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. PMID 9256479.
- Hata A, Lagna G, Massagué J, Hemmati-Brivanlou A (1998). "Smad6 inhibits BMP/Smad1 signaling by specifically competing with the Smad4 tumor suppressor". Genes Dev. 12 (2): 186–97. PMID 9436979.
- Afrakhte M, Morén A, Jossan S, Itoh S, Sampath K, Westermark B, Heldin CH, Heldin NE, ten Dijke P (1998). "Induction of inhibitory Smad6 and Smad7 mRNA by TGF-beta family members". Biochem. Biophys. Res. Commun. 249 (2): 505–11. PMID 9712726.
- Galvin KM, Donovan MJ, Lynch CA, Meyer RI, Paul RJ, Lorenz JN, Fairchild-Huntress V, Dixon KL, Dunmore JH, Gimbrone MA, Falb D, Huszar D (2000). "A role for smad6 in development and homeostasis of the cardiovascular system". Nat. Genet. 24 (2): 171–4. S2CID 24365746.
- Bai S, Shi X, Yang X, Cao X (2000). "Smad6 as a transcriptional corepressor". J. Biol. Chem. 275 (12): 8267–70. PMID 10722652.
- Kimura N, Matsuo R, Shibuya H, Nakashima K, Taga T (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. PMID 10748100.
- Datta PK, Moses HL (2000). "STRAP and Smad7 Synergize in the Inhibition of Transforming Growth Factor β Signaling". Mol. Cell. Biol. 20 (9): 3157–67. PMID 10757800.
- Ebisawa T, Fukuchi M, Murakami G, Chiba T, Tanaka K, Imamura T, Miyazono K (2001). "Smurf1 interacts with transforming growth factor-beta type I receptor through Smad7 and induces receptor degradation". J. Biol. Chem. 276 (16): 12477–80. PMID 11278251.
- Itoh F, Asao H, Sugamura K, Heldin CH, ten Dijke P, Itoh S (2001). "Promoting bone morphogenetic protein signaling through negative regulation of inhibitory Smads". EMBO J. 20 (15): 4132–42. PMID 11483516.
- Yanagisawa M, Nakashima K, Takeda K, Ochiai W, Takizawa T, Ueno M, Takizawa M, Shibuya H, Taga T (2002). "Inhibition of BMP2-induced, TAK1 kinase-mediated neurite outgrowth by Smad6 and Smad7". Genes Cells. 6 (12): 1091–9. S2CID 25476125.
- Schiffer M, Schiffer LE, Gupta A, Shaw AS, Roberts IS, Mundel P, Böttinger EP (2003). "Inhibitory smads and tgf-Beta signaling in glomerular cells". J. Am. Soc. Nephrol. 13 (11): 2657–66. PMID 12397035.