This gene encodes a structural protein that is found exclusively in contractile smooth muscle cells. It associates with stress fibers and constitutes part of the cytoskeleton. This gene is localized to chromosome 22q12.3, distal to the TUPLE1 locus and outside the DiGeorge syndrome deletion. Alternative splicing of this gene results in three transcript variants.[3]
References
↑Engelen JJ, Esterling LE, Albrechts JC, Detera-Wadleigh SD, van Eys GJ (Sep 1997). "Assignment of the human gene for smoothelin (SMTN) to chromosome 22q12 by fluorescence in situ hybridization and radiation hybrid mapping". Genomics. 43 (2): 245–7. doi:10.1006/geno.1997.9999. PMID9244445.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID8125298.
van Eys GJ, Völler MC, Timmer ED, et al. (1997). "Smoothelin expression characteristics: development of a smooth muscle cell in vitro system and identification of a vascular variant". Cell Struct. Funct. 22 (1): 65–72. doi:10.1247/csf.22.65. PMID9113392.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID9373149.
Krämer J, Aguirre-Arteta AM, Thiel C, et al. (1999). "A novel isoform of the smooth muscle cell differentiation marker smoothelin". J. Mol. Med. 77 (2): 294–8. doi:10.1007/s001090050352. PMID10023782.
Johansson B, Eriksson A, Ramaekers F, Thornell L (2000). "Smoothelin in adult and developing human arteries and myocardium". Histochem. Cell Biol. 112 (4): 291–9. doi:10.1007/s004180050450. PMID10550614.
Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. doi:10.1038/990031. PMID10591208.
Gsell S, Eschenhagen T, Kaspareit G, et al. (2000). "Apparent up-regulation of stimulatory G-protein alpha subunits in the pregnant human myometrium is mimicked by elevated smoothelin expression". FASEB J. 14 (1): 17–26. PMID10627276.
Krämer J, Quensel C, Meding J, et al. (2001). "Identification and characterization of novel smoothelin isoforms in vascular smooth muscle". J. Vasc. Res. 38 (2): 120–32. doi:10.1159/000051039. PMID11316948.
Rensen SS, Thijssen VL, De Vries CJ, et al. (2002). "Expression of the smoothelin gene is mediated by alternative promoters". Cardiovasc. Res. 55 (4): 850–63. doi:10.1016/S0008-6363(02)00491-1. PMID12176134.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID14702039.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID16189514.