SMG6: Difference between revisions

'''Telomerase-binding protein EST1A''' is an [[enzyme]] that in humans is encoded by the ''SMG6'' [[gene]] on [[Chromosome 17 (human)|chromosome 17]].<ref name="pmid12676087">{{cite journal | vauthors = Reichenbach P, Höss M, Azzalin CM, Nabholz M, Bucher P, Lingner J | title = A human homolog of yeast Est1 associates with telomerase and uncaps chromosome ends when overexpressed | journal = Current Biology | volume = 13 | issue = 7 | pages = 568–74 | date = April 2003 | pmid = 12676087 | pmc = | doi = 10.1016/S0960-9822(03)00173-8 }}</ref><ref name="pmid12699629">{{cite journal | vauthors = Snow BE, Erdmann N, Cruickshank J, Goldman H, Gill RM, Robinson MO, Harrington L | title = Functional conservation of the telomerase protein Est1p in humans | journal = Current Biology | volume = 13 | issue = 8 | pages = 698–704 | date = April 2003 | pmid = 12699629 | pmc = | doi = 10.1016/S0960-9822(03)00210-0 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SMG6 Smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23293| accessdate = }}</ref> It is ubiquitously expressed in many tissues and cell types.<ref>{{Cite web|url=http://biogps.org/#goto=genereport&id=23293|title=BioGPS - your Gene Portal System|website=biogps.org|access-date=2016-10-12}}</ref> The C-terminus of the EST1A protein contains a [[PIN domain|PilT N-terminus (PIN) domain]]. This structure for this domain has been determined by [[X-ray crystallography]].<ref>{{cite journal | vauthors = Takeshita D, Zenno S, Lee WC, Saigo K, Tanokura M | title = Crystallization and preliminary X-ray analysis of the PIN domain of human EST1A | journal = Acta Crystallographica Section F | volume = 62 | issue = Pt 7 | pages = 656–8 | date = July 2006 | pmid = 16820686 | pmc = 2242961 | doi = 10.1107/S1744309106020057 }}</ref> SMG6 functions to bind [[single-stranded DNA]] in [[telomere]] maintenance and [[Single-stranded DNA|single-stranded RNA]] in [[nonsense-mediated mRNA decay]] (NMD).<ref>{{cite journal | vauthors = Snow BE, Erdmann N, Cruickshank J, Goldman H, Gill RM, Robinson MO, Harrington L | title = Functional conservation of the telomerase protein Est1p in humans | journal = Current Biology | volume = 13 | issue = 8 | pages = 698–704 | date = April 2003 | pmid = 12699629 }}</ref><ref>{{cite journal | vauthors = Huntzinger E, Kashima I, Fauser M, Saulière J, Izaurralde E | title = SMG6 is the catalytic endonuclease that cleaves mRNAs containing nonsense codons in metazoan | journal = RnaRNA | volume = 14 | issue = 12 | pages = 2609–17 | date = December 2008 | pmid = 18974281 | doi = 10.1261/rna.1386208 }}</ref> The ''SMG6'' gene also contains one of 27 [[SNPs]] associated with increased risk of [[coronary artery disease]].<ref name=":0" />

* {{cite journal | vauthors = Chiu SY, Serin G, Ohara O, Maquat LE | title = Characterization of human Smg5/7a: a protein with similarities to Caenorhabditis elegans SMG5 and SMG7 that functions in the dephosphorylation of Upf1 | journal = RnaRNA | volume = 9 | issue = 1 | pages = 77–87 | date = January 2003 | pmid = 12554878 | pmc = 1370372 | doi = 10.1261/rna.2137903 }}