Content deleted Content added
Citation bot (talk | contribs) Add: s2cid. | Use this bot. Report bugs. | Suggested by Whoop whoop pull up | Category:Genes on human chromosome 17 | #UCB_Category 51/802 |
Citation bot (talk | contribs) Add: doi-access, issue. | Use this bot. Report bugs. | Suggested by Headbomb | #UCB_toolbar |
||
| (One intermediate revision by one other user not shown) | |||
Line 1:
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
'''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 | doi = 10.1016/S0960-9822(03)00173-8 | s2cid = 14423276 | doi-access = free }}</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 | doi = 10.1016/S0960-9822(03)00210-0 | s2cid = 6685276 | doi-access = free }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SMG6 Smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23293}}</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 | doi=10.1016/s0960-9822(03)00210-0| s2cid = 6685276 | doi-access = free }}</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 = RNA | volume = 14 | issue = 12 | pages = 2609–17 | date = December 2008 | pmid = 18974281 | doi = 10.1261/rna.1386208 | pmc=2590965}}</ref> The ''SMG6'' gene also contains one of 27 [[SNPs]] associated with increased risk of [[coronary artery disease]].<ref name=":0" />
Line 15 ⟶ 16:
== Clinical significance ==
In humans, selected genomic regions based on 150 SNPs were identified in a [[genome-wide association study]] (GWAS) on coronary artery disease. Accordingly, the association between recent smoking and the CpG sites within and near these coronary artery disease-related genes were investigated in 724 [[Caucasian race|Caucasian]] subjects from the Rotterdam Study. The identified [[methylation]] sites were found in SMG6 together with other genes, and several of these sites exhibited lower methylation in subjects currently smoking compared to never smoking.<ref>{{cite journal | vauthors = Steenaard RV, Ligthart S, Stolk L, Peters MJ, van Meurs JB, Uitterlinden AG, Hofman A, Franco OH, Dehghan A | title = Tobacco smoking is associated with methylation of genes related to coronary artery disease | journal = Clinical Epigenetics | volume = 7 | pages = 54 | date = 2015-01-01 | issue = 1 | pmid = 26015811 | doi = 10.1186/s13148-015-0088-y | pmc=4443552 | doi-access = free }}</ref>
=== Clinical marker ===
| |||