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{{Infobox_gene}}
{{Infobox_gene}}
'''Protection of telomeres protein 1''' is a [[protein]] that in humans is encoded by the ''POT1'' [[gene]].<ref name="pmid11349150">{{cite journal | vauthors = Baumann P, Cech TR | title = Pot1, the putative telomere end-binding protein in fission yeast and humans | journal = Science | volume = 292 | issue = 5519 | pages = 1171–5 | date = May 2001 | pmid = 11349150 | pmc =  | doi = 10.1126/science.1060036 }}</ref><ref name="pmid12391173">{{cite journal | vauthors = Baumann P, Podell E, Cech TR | title = Human Pot1 (Protection of Telomeres) Protein: Cytolocalization, Gene Structure, and Alternative Splicing | journal = Mol Cell Biol | volume = 22 | issue = 22 | pages = 8079–87 | date = Oct 2002 | pmid = 12391173 | pmc = 134737 | doi = 10.1128/MCB.22.22.8079-8087.2002 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: POT1 POT1 protection of telomeres 1 homolog (S. pombe)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=25913| accessdate = }}</ref>
'''Protection of telomeres protein 1''' is a [[protein]] that in humans is encoded by the ''POT1'' [[gene]].<ref name="pmid11349150">{{cite journal | vauthors = Baumann P, Cech TR | title = Pot1, the putative telomere end-binding protein in fission yeast and humans | journal = Science | volume = 292 | issue = 5519 | pages = 1171–5 | date = May 2001 | pmid = 11349150 | pmc =  | doi = 10.1126/science.1060036 }}</ref><ref name="pmid12391173">{{cite journal | vauthors = Baumann P, Podell E, Cech TR | title = Human Pot1 (protection of telomeres) protein: cytolocalization, gene structure, and alternative splicing | journal = Molecular and Cellular Biology | volume = 22 | issue = 22 | pages = 8079–87 | date = November 2002 | pmid = 12391173 | pmc = 134737 | doi = 10.1128/MCB.22.22.8079-8087.2002 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: POT1 POT1 protection of telomeres 1 homolog (S. pombe)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=25913| access-date = }}</ref>


== Function ==
== Function ==


This gene is a member of the telombin family and encodes a nuclear protein involved in [[telomere]] maintenance. Specifically, this protein functions as a member of a multi-protein complex known as [[shelterin]], that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Alternatively spliced transcript variants have been described.<ref name="entrez" />
This gene is a member of the telombin family and encodes a nuclear protein involved in [[telomere]] maintenance. Specifically, this protein functions as a member of a multi-protein complex known as [[shelterin]], that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Alternatively spliced transcript variants have been described.<ref name="entrez" />
The absence of POT1 in mouse embryonic fibroblasts and chicken cells leads to a detrimental DNA damage response on telomeres resulting in telomere dysfunction-induced foci (TIFs). POT1 is required for telomere protection because it allows for telomere inhibition of DNA damage response factors. The protein also serves a role in the regulation of [[telomerase]] activity on telomeres. In vitro experiments utilizing human POT1 have shown that reduction in POT1 levels result in the elongation of telomeres.<ref>{{cite journal|last1=Bauman|first1=Peter|last2=Carolyn|first2=Price | name-list-format = vanc |title=Pot1 and telomere maintenance|journal=FEBS Letters|date=2010|volume=584|issue=17|page=3779-3784|doi= 10.1016/j.febslet.2010.05.024 |pmc=2942089}}</ref>


== Interactions ==
== Interactions ==


POT1 has been shown to [[Protein-protein interaction|interact]] with [[ACD (gene)|ACD]]<ref name=pmid16189514>{{cite journal | vauthors = Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M | title = Towards a proteome-scale map of the human protein-protein interaction network | journal = [[Nature (journal)|Nature]] | volume = 437 | issue = 7062 | pages = 1173–8 | date = Oct 2005 | pmid = 16189514 | doi = 10.1038/nature04209 }}</ref><ref name=pmid15231715>{{cite journal | vauthors = Ye JZ, Hockemeyer D, Krutchinsky AN, Loayza D, Hooper SM, Chait BT, de Lange T | title = POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex | journal = Genes Dev. | volume = 18 | issue = 14 | pages = 1649–54 | date = Jul 2004 | pmid = 15231715 | pmc = 478187 | doi = 10.1101/gad.1215404 }}</ref><ref name=pmid15181449>{{cite journal | vauthors = Liu D, Safari A, O'Connor MS, Chan DW, Laegeler A, Qin J, Songyang Z | title = PTOP interacts with POT1 and regulates its localization to telomeres | journal = Nat. Cell Biol. | volume = 6 | issue = 7 | pages = 673–80 | date = Jul 2004 | pmid = 15181449 | doi = 10.1038/ncb1142 }}</ref> and [[TINF2]].<ref name=pmid15231715/><ref name=pmid15181449/><ref name=pmid12768206>{{cite journal | vauthors = Loayza D, De Lange T | title = POT1 as a terminal transducer of TRF1 telomere length control | journal = [[Nature (journal)|Nature]] | volume = 423 | issue = 6943 | pages = 1013–8 | date = Jun 2003 | pmid = 12768206 | doi = 10.1038/nature01688 }}</ref>
POT1 has been shown to [[Protein-protein interaction|interact]] with [[ACD (gene)|ACD]]<ref name=pmid16189514>{{cite journal | vauthors = Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M | display-authors = 6 | title = Towards a proteome-scale map of the human protein-protein interaction network | journal = Nature | volume = 437 | issue = 7062 | pages = 1173–8 | date = October 2005 | pmid = 16189514 | doi = 10.1038/nature04209 }}</ref><ref name=pmid15231715>{{cite journal | vauthors = Ye JZ, Hockemeyer D, Krutchinsky AN, Loayza D, Hooper SM, Chait BT, de Lange T | title = POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex | journal = Genes & Development | volume = 18 | issue = 14 | pages = 1649–54 | date = July 2004 | pmid = 15231715 | pmc = 478187 | doi = 10.1101/gad.1215404 }}</ref><ref name=pmid15181449>{{cite journal | vauthors = Liu D, Safari A, O'Connor MS, Chan DW, Laegeler A, Qin J, Songyang Z | title = PTOP interacts with POT1 and regulates its localization to telomeres | journal = Nature Cell Biology | volume = 6 | issue = 7 | pages = 673–80 | date = July 2004 | pmid = 15181449 | doi = 10.1038/ncb1142 }}</ref> and [[TINF2]].<ref name=pmid15231715/><ref name=pmid15181449/><ref name=pmid12768206>{{cite journal | vauthors = Loayza D, De Lange T | title = POT1 as a terminal transducer of TRF1 telomere length control | journal = Nature | volume = 423 | issue = 6943 | pages = 1013–8 | date = June 2003 | pmid = 12768206 | doi = 10.1038/nature01688 }}</ref>


== Pathology ==
== Pathology ==


*Increased transcriptional expression of this gene is associated with [[gastric cancer|stomach carcinogenesis]] and its progression.  
*Increased transcriptional expression of this gene is associated with [[gastric cancer|stomach carcinogenesis]] and its progression.  
*Mutations in this gene have also been associated to the acquisition of the malignant features of [[chronic lymphocytic leukemia]].<ref name="pmid23502782">{{cite journal | vauthors = Ramsay AJ, Quesada V, Foronda M, Conde L, Martínez-Trillos A, Villamor N, Rodríguez D, Kwarciak A, Garabaya C, Gallardo M, López-Guerra M, López-Guillermo A, Puente XS, Blasco MA, Campo E, López-Otín C | title = POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia | journal = Nat. Genet. | volume = 45 | issue = 5 | pages = 526–30 | year = 2013 | pmid = 23502782 | doi = 10.1038/ng.2584 }}</ref>
*Mutations in this gene have also been associated to the acquisition of the malignant features of [[chronic lymphocytic leukemia]].<ref name="pmid23502782">{{cite journal | vauthors = Ramsay AJ, Quesada V, Foronda M, Conde L, Martínez-Trillos A, Villamor N, Rodríguez D, Kwarciak A, Garabaya C, Gallardo M, López-Guerra M, López-Guillermo A, Puente XS, Blasco MA, Campo E, López-Otín C | display-authors = 6 | title = POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia | journal = Nature Genetics | volume = 45 | issue = 5 | pages = 526–30 | date = May 2013 | pmid = 23502782 | doi = 10.1038/ng.2584 }}</ref>
*POT1 loss-of-function variants predispose to familial [[melanoma]]<ref name="pmid24686849">{{cite journal | vauthors = Robles-Espinoza CD, Harland M, Ramsay AJ, Aoude LG, Quesada V, Ding Z, Pooley KA, Pritchard AL, Tiffen JC, Petljak M, Palmer JM, Symmons J, Johansson P, Stark MS, Gartside MG, Snowden H, Montgomery GW, Martin NG, Liu JZ, Choi J, Makowski M, Brown KM, Dunning AM, Keane TM, López-Otín C, Gruis NA, Hayward NK, Bishop DT, Newton-Bishop JA, Adams DJ | title = POT1 loss-of-function variants predispose to familial melanoma | journal = Nat. Genet. | volume = 46 | issue = 5 | pages = 478–81 | year = 2014 | pmid = 24686849 | pmc = 4266105 | doi = 10.1038/ng.2947 | url = }}</ref> and [[glioma]].<ref name="pmid25482530">{{cite journal | vauthors = Bainbridge MN, Armstrong GN, Gramatges MM, Bertuch AA, Jhangiani SN, Doddapaneni H, Lewis L, Tombrello J, Tsavachidis S, Liu Y, Jalali A, Plon SE, Lau CC, Parsons DW, Claus EB, Barnholtz-Sloan J, Il'yasova D, Schildkraut J, Ali-Osman F, Sadetzki S, Johansen C, Houlston RS, Jenkins RB, Lachance D, Olson SH, Bernstein JL, Merrell RT, Wrensch MR, Walsh KM, Davis FG, Lai R, Shete S, Aldape K, Amos CI, Thompson PA, Muzny DM, Gibbs RA, Melin BS, Bondy ML | title = Germline mutations in shelterin complex genes are associated with familial glioma | journal = J. Natl. Cancer Inst. | volume = 107 | issue = 1 | page = dju384| year = 2015 | pmid = 25482530 | doi = 10.1093/jnci/dju384 | pmc=4296199}}</ref>
*POT1 loss-of-function variants predispose to familial [[melanoma]]<ref name="pmid24686849">{{cite journal | vauthors = Robles-Espinoza CD, Harland M, Ramsay AJ, Aoude LG, Quesada V, Ding Z, Pooley KA, Pritchard AL, Tiffen JC, Petljak M, Palmer JM, Symmons J, Johansson P, Stark MS, Gartside MG, Snowden H, Montgomery GW, Martin NG, Liu JZ, Choi J, Makowski M, Brown KM, Dunning AM, Keane TM, López-Otín C, Gruis NA, Hayward NK, Bishop DT, Newton-Bishop JA, Adams DJ | display-authors = 6 | title = POT1 loss-of-function variants predispose to familial melanoma | journal = Nature Genetics | volume = 46 | issue = 5 | pages = 478–481 | date = May 2014 | pmid = 24686849 | pmc = 4266105 | doi = 10.1038/ng.2947 }}</ref> and [[glioma]].<ref name="pmid25482530">{{cite journal | vauthors = Bainbridge MN, Armstrong GN, Gramatges MM, Bertuch AA, Jhangiani SN, Doddapaneni H, Lewis L, Tombrello J, Tsavachidis S, Liu Y, Jalali A, Plon SE, Lau CC, Parsons DW, Claus EB, Barnholtz-Sloan J, Il'yasova D, Schildkraut J, Ali-Osman F, Sadetzki S, Johansen C, Houlston RS, Jenkins RB, Lachance D, Olson SH, Bernstein JL, Merrell RT, Wrensch MR, Walsh KM, Davis FG, Lai R, Shete S, Aldape K, Amos CI, Thompson PA, Muzny DM, Gibbs RA, Melin BS, Bondy ML | display-authors = 6 | title = Germline mutations in shelterin complex genes are associated with familial glioma | journal = Journal of the National Cancer Institute | volume = 107 | issue = 1 | pages = 384 | date = January 2015 | pmid = 25482530 | pmc = 4296199 | doi = 10.1093/jnci/dju384 }}</ref>


== References ==
== References ==
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== Further reading ==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
* {{cite journal | vauthors = de Lange T | title = Shelterin: the protein complex that shapes and safeguards human telomeres | journal = Genes Dev. | volume = 19 | issue = 18 | pages = 2100–10 | year = 2005 | pmid = 16166375 | doi = 10.1101/gad.1346005 }}
* {{cite journal | vauthors = de Lange T | title = Shelterin: the protein complex that shapes and safeguards human telomeres | journal = Genes & Development | volume = 19 | issue = 18 | pages = 2100–10 | date = September 2005 | pmid = 16166375 | doi = 10.1101/gad.1346005 }}
* {{cite journal | vauthors = Bonaldo MF, Lennon G, Soares MB | title = Normalization and subtraction: two approaches to facilitate gene discovery | journal = Genome Res. | volume = 6 | issue = 9 | pages = 791–806 | year = 1997 | pmid = 8889548 | doi = 10.1101/gr.6.9.791 }}
* {{cite journal | vauthors = Bonaldo MF, Lennon G, Soares MB | title = Normalization and subtraction: two approaches to facilitate gene discovery | journal = Genome Research | volume = 6 | issue = 9 | pages = 791–806 | date = September 1996 | pmid = 8889548 | doi = 10.1101/gr.6.9.791 }}
* {{cite journal | vauthors = Loayza D, De Lange T | title = POT1 as a terminal transducer of TRF1 telomere length control | journal = Nature | volume = 423 | issue = 6943 | pages = 1013–8 | year = 2003 | pmid = 12768206 | doi = 10.1038/nature01688 }}
* {{cite journal | vauthors = Loayza D, De Lange T | title = POT1 as a terminal transducer of TRF1 telomere length control | journal = Nature | volume = 423 | issue = 6943 | pages = 1013–8 | date = June 2003 | pmid = 12768206 | doi = 10.1038/nature01688 }}
* {{cite journal | vauthors = Colgin LM, Baran K, Baumann P, Cech TR, Reddel RR | title = Human POT1 facilitates telomere elongation by telomerase | journal = Curr. Biol. | volume = 13 | issue = 11 | pages = 942–6 | year = 2004 | pmid = 12781132 | doi = 10.1016/S0960-9822(03)00339-7 }}
* {{cite journal | vauthors = Colgin LM, Baran K, Baumann P, Cech TR, Reddel RR | title = Human POT1 facilitates telomere elongation by telomerase | journal = Current Biology | volume = 13 | issue = 11 | pages = 942–6 | date = May 2003 | pmid = 12781132 | doi = 10.1016/S0960-9822(03)00339-7 }}
* {{cite journal | vauthors = Loayza D, Parsons H, Donigian J, Hoke K, de Lange T | title = DNA binding features of human POT1: a nonamer 5'-TAGGGTTAG-3' minimal binding site, sequence specificity, and internal binding to multimeric sites | journal = J. Biol. Chem. | volume = 279 | issue = 13 | pages = 13241–8 | year = 2004 | pmid = 14715659 | doi = 10.1074/jbc.M312309200 }}
* {{cite journal | vauthors = Loayza D, Parsons H, Donigian J, Hoke K, de Lange T | title = DNA binding features of human POT1: a nonamer 5'-TAGGGTTAG-3' minimal binding site, sequence specificity, and internal binding to multimeric sites | journal = The Journal of Biological Chemistry | volume = 279 | issue = 13 | pages = 13241–8 | date = March 2004 | pmid = 14715659 | doi = 10.1074/jbc.M312309200 }}
* {{cite journal | vauthors = Kondo T, Oue N, Yoshida K, Mitani Y, Naka K, Nakayama H, Yasui W | title = Expression of POT1 is associated with tumor stage and telomere length in gastric carcinoma | journal = Cancer Res. | volume = 64 | issue = 2 | pages = 523–9 | year = 2004 | pmid = 14744765 | doi = 10.1158/0008-5472.CAN-03-1196 }}
* {{cite journal | vauthors = Kondo T, Oue N, Yoshida K, Mitani Y, Naka K, Nakayama H, Yasui W | title = Expression of POT1 is associated with tumor stage and telomere length in gastric carcinoma | journal = Cancer Research | volume = 64 | issue = 2 | pages = 523–9 | date = January 2004 | pmid = 14744765 | doi = 10.1158/0008-5472.CAN-03-1196 }}
* {{cite journal | vauthors = Armbruster BN, Linardic CM, Veldman T, Bansal NP, Downie DL, Counter CM | title = Rescue of an hTERT Mutant Defective in Telomere Elongation by Fusion with hPot1 | journal = Mol. Cell. Biol. | volume = 24 | issue = 8 | pages = 3552–61 | year = 2004 | pmid = 15060173 | pmc = 381596 | doi = 10.1128/MCB.24.8.3552-3561.2004 }}
* {{cite journal | vauthors = Armbruster BN, Linardic CM, Veldman T, Bansal NP, Downie DL, Counter CM | title = Rescue of an hTERT mutant defective in telomere elongation by fusion with hPot1 | journal = Molecular and Cellular Biology | volume = 24 | issue = 8 | pages = 3552–61 | date = April 2004 | pmid = 15060173 | pmc = 381596 | doi = 10.1128/MCB.24.8.3552-3561.2004 }}
* {{cite journal | vauthors = Liu D, Safari A, O'Connor MS, Chan DW, Laegeler A, Qin J, Songyang Z | title = PTOP interacts with POT1 and regulates its localization to telomeres | journal = Nat. Cell Biol. | volume = 6 | issue = 7 | pages = 673–80 | year = 2004 | pmid = 15181449 | doi = 10.1038/ncb1142 }}
* {{cite journal | vauthors = Liu D, Safari A, O'Connor MS, Chan DW, Laegeler A, Qin J, Songyang Z | title = PTOP interacts with POT1 and regulates its localization to telomeres | journal = Nature Cell Biology | volume = 6 | issue = 7 | pages = 673–80 | date = July 2004 | pmid = 15181449 | doi = 10.1038/ncb1142 }}
* {{cite journal | vauthors = Ye JZ, Hockemeyer D, Krutchinsky AN, Loayza D, Hooper SM, Chait BT, de Lange T | title = POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex | journal = Genes Dev. | volume = 18 | issue = 14 | pages = 1649–54 | year = 2004 | pmid = 15231715 | pmc = 478187 | doi = 10.1101/gad.1215404 }}
* {{cite journal | vauthors = Ye JZ, Hockemeyer D, Krutchinsky AN, Loayza D, Hooper SM, Chait BT, de Lange T | title = POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex | journal = Genes & Development | volume = 18 | issue = 14 | pages = 1649–54 | date = July 2004 | pmid = 15231715 | pmc = 478187 | doi = 10.1101/gad.1215404 }}
* {{cite journal | vauthors = Lei M, Podell ER, Cech TR | title = Structure of human POT1 bound to telomeric single-stranded DNA provides a model for chromosome end-protection | journal = Nat. Struct. Mol. Biol. | volume = 11 | issue = 12 | pages = 1223–9 | year = 2005 | pmid = 15558049 | doi = 10.1038/nsmb867 }}
* {{cite journal | vauthors = Lei M, Podell ER, Cech TR | title = Structure of human POT1 bound to telomeric single-stranded DNA provides a model for chromosome end-protection | journal = Nature Structural & Molecular Biology | volume = 11 | issue = 12 | pages = 1223–9 | date = December 2004 | pmid = 15558049 | doi = 10.1038/nsmb867 }}
* {{cite journal | vauthors = Veldman T, Etheridge KT, Counter CM | title = Loss of hPot1 function leads to telomere instability and a cut-like phenotype | journal = Curr. Biol. | volume = 14 | issue = 24 | pages = 2264–70 | year = 2005 | pmid = 15620654 | doi = 10.1016/j.cub.2004.12.031 }}
* {{cite journal | vauthors = Veldman T, Etheridge KT, Counter CM | title = Loss of hPot1 function leads to telomere instability and a cut-like phenotype | journal = Current Biology | volume = 14 | issue = 24 | pages = 2264–70 | date = December 2004 | pmid = 15620654 | doi = 10.1016/j.cub.2004.12.031 }}
* {{cite journal | vauthors = Kelleher C, Kurth I, Lingner J | title = Human Protection of Telomeres 1 (POT1) Is a Negative Regulator of Telomerase Activity In Vitro | journal = Mol. Cell. Biol. | volume = 25 | issue = 2 | pages = 808–18 | year = 2005 | pmid = 15632080 | pmc = 543404 | doi = 10.1128/MCB.25.2.808-818.2005 }}
* {{cite journal | vauthors = Kelleher C, Kurth I, Lingner J | title = Human protection of telomeres 1 (POT1) is a negative regulator of telomerase activity in vitro | journal = Molecular and Cellular Biology | volume = 25 | issue = 2 | pages = 808–18 | date = January 2005 | pmid = 15632080 | pmc = 543404 | doi = 10.1128/MCB.25.2.808-818.2005 }}
* {{cite journal | vauthors = Yang Q, Zheng YL, Harris CC | title = POT1 and TRF2 Cooperate To Maintain Telomeric Integrity | journal = Mol. Cell. Biol. | volume = 25 | issue = 3 | pages = 1070–80 | year = 2005 | pmid = 15657433 | pmc = 544002 | doi = 10.1128/MCB.25.3.1070-1080.2005 }}
* {{cite journal | vauthors = Yang Q, Zheng YL, Harris CC | title = POT1 and TRF2 cooperate to maintain telomeric integrity | journal = Molecular and Cellular Biology | volume = 25 | issue = 3 | pages = 1070–80 | date = February 2005 | pmid = 15657433 | pmc = 544002 | doi = 10.1128/MCB.25.3.1070-1080.2005 }}
* {{cite journal | vauthors = Lei M, Zaug AJ, Podell ER, Cech TR | title = Switching human telomerase on and off with hPOT1 protein in vitro | journal = J. Biol. Chem. | volume = 280 | issue = 21 | pages = 20449–56 | year = 2005 | pmid = 15792951 | doi = 10.1074/jbc.M502212200 }}
* {{cite journal | vauthors = Lei M, Zaug AJ, Podell ER, Cech TR | title = Switching human telomerase on and off with hPOT1 protein in vitro | journal = The Journal of Biological Chemistry | volume = 280 | issue = 21 | pages = 20449–56 | date = May 2005 | pmid = 15792951 | doi = 10.1074/jbc.M502212200 }}
{{refend}}
{{refend}}


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[[Category:Telomere-related genes]]
[[Category:Telomere-related genes]]
[[Category:Telomere-related proteins]]
[[Category:Telomere-related proteins]]


{{gene-7-stub}}
{{gene-7-stub}}

Latest revision as of 07:45, 23 May 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Protection of telomeres protein 1 is a protein that in humans is encoded by the POT1 gene.[1][2][3]

Function

This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex known as shelterin, that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Alternatively spliced transcript variants have been described.[3]

The absence of POT1 in mouse embryonic fibroblasts and chicken cells leads to a detrimental DNA damage response on telomeres resulting in telomere dysfunction-induced foci (TIFs). POT1 is required for telomere protection because it allows for telomere inhibition of DNA damage response factors. The protein also serves a role in the regulation of telomerase activity on telomeres. In vitro experiments utilizing human POT1 have shown that reduction in POT1 levels result in the elongation of telomeres.[4]

Interactions

POT1 has been shown to interact with ACD[5][6][7] and TINF2.[6][7][8]

Pathology

References

  1. ↑ Baumann P, Cech TR (May 2001). "Pot1, the putative telomere end-binding protein in fission yeast and humans". Science. 292 (5519): 1171–5. doi:10.1126/science.1060036. PMID 11349150.
  2. ↑ Baumann P, Podell E, Cech TR (November 2002). "Human Pot1 (protection of telomeres) protein: cytolocalization, gene structure, and alternative splicing". Molecular and Cellular Biology. 22 (22): 8079–87. doi:10.1128/MCB.22.22.8079-8087.2002. PMC 134737. PMID 12391173.
  3. ↑ 3.0 3.1 "Entrez Gene: POT1 POT1 protection of telomeres 1 homolog (S. pombe)".
  4. ↑ Bauman P, Carolyn P (2010). "Pot1 and telomere maintenance". FEBS Letters. 584 (17): 3779-3784. doi:10.1016/j.febslet.2010.05.024. PMC 2942089.
  5. ↑ Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, et al. (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
  6. ↑ 6.0 6.1 Ye JZ, Hockemeyer D, Krutchinsky AN, Loayza D, Hooper SM, Chait BT, de Lange T (July 2004). "POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex". Genes & Development. 18 (14): 1649–54. doi:10.1101/gad.1215404. PMC 478187. PMID 15231715.
  7. ↑ 7.0 7.1 Liu D, Safari A, O'Connor MS, Chan DW, Laegeler A, Qin J, Songyang Z (July 2004). "PTOP interacts with POT1 and regulates its localization to telomeres". Nature Cell Biology. 6 (7): 673–80. doi:10.1038/ncb1142. PMID 15181449.
  8. ↑ Loayza D, De Lange T (June 2003). "POT1 as a terminal transducer of TRF1 telomere length control". Nature. 423 (6943): 1013–8. doi:10.1038/nature01688. PMID 12768206.
  9. ↑ Ramsay AJ, Quesada V, Foronda M, Conde L, Martínez-Trillos A, Villamor N, et al. (May 2013). "POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia". Nature Genetics. 45 (5): 526–30. doi:10.1038/ng.2584. PMID 23502782.
  10. ↑ Robles-Espinoza CD, Harland M, Ramsay AJ, Aoude LG, Quesada V, Ding Z, et al. (May 2014). "POT1 loss-of-function variants predispose to familial melanoma". Nature Genetics. 46 (5): 478–481. doi:10.1038/ng.2947. PMC 4266105. PMID 24686849.
  11. ↑ Bainbridge MN, Armstrong GN, Gramatges MM, Bertuch AA, Jhangiani SN, Doddapaneni H, et al. (January 2015). "Germline mutations in shelterin complex genes are associated with familial glioma". Journal of the National Cancer Institute. 107 (1): 384. doi:10.1093/jnci/dju384. PMC 4296199. PMID 25482530.

Further reading

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