| 1 | KCNE1, KCNQ1, SGMS1
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| Regulation of membrane KCNQ1/KCNE1 channel density by sphingomyelin synthase 1.
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| Wu M, Takemoto M, Taniguchi M, Takumi T, Okazaki T, Song WJ.
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| Am J Physiol Cell Physiol 311(1):C15-23. doi: 10.1152/ajpcell.00272.2015. Epub 2016 May 18.
2016
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| 2 | DDX58, SGMS1
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| Mutations in DDX58, which Encodes RIG-I, Cause Atypical Singleton-Merten Syndrome.
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| Jang MA, Kim EK, Now H, Nguyen NT, Kim WJ, Yoo JY, Lee J, Jeong YM, Kim CH, Kim OH, Sohn S, Nam SH, Hong Y, Lee YS, Chang SA, Jang SY, Kim JW, Lee MS, Lim SY, Sung KS, Park KT, Kim BJ, Lee JH, Kim DK, Kee C, Ki CS.
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| Am J Hum Genet 96(2):266-74. doi: 10.1016/j.ajhg.2014.11.019. Epub 2015 Jan 22.
2015
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| 3 | SGMS1, SGMS2
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| Differential localization of sphingomyelin synthase isoforms in neurons regulates sphingomyelin cluster formation.
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| Kidani Y, Ohshima K, Sakai H, Kohno T, Baba A, Hattori M.
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| Biochem Biophys Res Commun 417(3):1014-7. Epub 2011 Dec 22.
2012
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| 4 | SGMS1, SGMS2
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| Sphingomyelin synthases regulate protein trafficking and secretion.
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| Subathra M, Qureshi A, Luberto C.
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| PLoS One 6(9):e23644. Epub 2011 Sep 27.
2011
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| 5 | SGMS1, SGMS2
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| Sphingomyelin synthase 1-generated sphingomyelin plays an important role in transferrin trafficking and cell proliferation.
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| Shakor AB, Taniguchi M, Kitatani K, Hashimoto M, Asano S, Hayashi A, Nomura K, Bielawski J, Bielawska A, Watanabe K, Kobayashi T, Igarashi Y, Umehara H, Takeya H, Okazaki T.
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| J Biol Chem 286(41):36053-62. Epub 2011 Aug 19.
2011
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| 6 | SGMS1
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| Human sphingomyelin synthase 1 gene (SMS1): organization, multiple mRNA splice variants and expression in adult tissues.
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| Rozhkova AV, Dmitrieva VG, Zhapparova ON, Sudarkina OY, Nadezhdina ES, Limborska SA, Dergunova LV.
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| Gene 481(2):65-75. doi: 10.1016/j.gene.2011.04.010. Epub 2011 Apr 29.
2011
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| 7 | SGMS1
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| Caspase-mediated inhibition of sphingomyelin synthesis is involved in FasL-triggered cell death.
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| Lafont E, Milhas D, Carpentier S, Garcia V, Jin ZX, Umehara H, Okazaki T, Schulze-Osthoff K, Levade T, Benoist H, Ségui B.
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| Cell Death Differ 17(4):642-54. Epub 2009 Sep 25.
2010
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| 8 | SGMS1, SGMS2
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| Sphingomyelin synthase 2 is palmitoylated at the COOH-terminal tail, which is involved in its localization in plasma membranes.
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| Tani M, Kuge O.
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| Biochem Biophys Res Commun 381(3):328-32. Epub 2009 Feb 20. 2009
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| 9 | SGMS1, SGMS2
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| The domain responsible for sphingomyelin synthase (SMS) activity.
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| Yeang C, Varshney S, Wang R, Zhang Y, Ye D, Jiang XC.
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| Biochim Biophys Acta 1781(10):610-7. Epub 2008 Jul 23.
2008
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| 10 | SGMS1, SGMS2
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| Sphingomyelin synthases regulate production of diacylglycerol at the Golgi.
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| Villani M, Subathra M, Im YB, Choi Y, Signorelli P, Del Poeta M, Luberto C.
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| Biochem J 414(1):31-41.
2008
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| 11 | SGMS1, SGMS2
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| Both sphingomyelin synthases SMS1 and SMS2 are required for sphingomyelin homeostasis and growth in human HeLa cells.
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| Tafesse FG, Huitema K, Hermansson M, van der Poel S, van den Dikkenberg J, Uphoff A, Somerharju P, Holthuis JC.
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| J Biol Chem 282(24):17537-47. Epub 2007 Apr 22. 2007
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| 12 | SGMS1
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| Sphingomyelin synthase 1 suppresses ceramide production and apoptosis post-photodamage.
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| Separovic D, Hanada K, Maitah MY, Nagy B, Hang I, Tainsky MA, Kraniak JM, Bielawski J.
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| Biochem Biophys Res Commun 358(1):196-202. Epub 2007 Apr 23. 2007
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| 13 | SGMS1
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| Human gene MOB: structure specification and aspects of transcriptional activity.
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| Vladychenskaya IP, Dergunova LV, Dmitrieva VG, Limborska SA.
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| Gene 338(2):257-65. 2004
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| 14 | SGMS1
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| Expression cloning of a human cDNA restoring sphingomyelin synthesis and cell growth in sphingomyelin synthase-defective lymphoid cells.
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| Yamaoka S, Miyaji M, Kitano T, Umehara H, Okazaki T.
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| J Biol Chem 279(18):18688-93. Epub 2004 Feb 19. 2004
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| 15 | SAMD8, SGMS1, SGMS2
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| Identification of a family of animal sphingomyelin synthases.
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| Huitema K, van den Dikkenberg J, Brouwers JF, Holthuis JC.
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| EMBO J 23(1):33-44. Epub 2003 Dec 18. 2004
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| 16 | SGMS1
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| In vitro and in silico analysis of the predicted human MOB gene encoding a phylogenetically conserved transmembrane protein.
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| Vladychenskaya IP, Dergunova LV, Limborska SA.
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| Biomol Eng 18(6):263-8. 2002
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| 17 | MOB3, SGMS1
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| Structures, expression, and chromosome location of sequences Hmob3 and Hmob33 from cDNA library of human medulla oblongata.
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| Dergunova LV, et al.
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| Mol Biol 32 : 214-219. 1998
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| 18 | SGMS1, SGMS2
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| A syndrome of widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness (the Singleton-Merten syndrome).
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| Gay BB Jr, Kuhn JP.
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| Radiology 118(2):389-95.
1976
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