POT1: Difference between revisions

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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''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>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image = PBB_Protein_POT1_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1xjv.
| PDB = {{PDB2|1xjv}}
| Name = POT1 protection of telomeres 1 homolog (S. pombe)
| HGNCid = 17284
| Symbol = POT1
| AltSymbols =; DKFZP586D211; hPot1
| OMIM = 606478
| ECnumber = 
| Homologene = 32263
| MGIid = 2141503
| GeneAtlas_image1 = PBB_GE_POT1_204353_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_POT1_204354_at_tn.png
| Function = {{GNF_GO|id=GO:0003677 |text = DNA binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0043047 |text = single-stranded telomeric DNA binding}}
| Component = {{GNF_GO|id=GO:0000784 |text = nuclear chromosome, telomeric region}} {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005694 |text = chromosome}}
| Process = {{GNF_GO|id=GO:0000723 |text = telomere maintenance}} {{GNF_GO|id=GO:0007004 |text = telomere maintenance via telomerase}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 25913
    | Hs_Ensembl = ENSG00000128513
    | Hs_RefseqProtein = NP_001036059
    | Hs_RefseqmRNA = NM_001042594
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 7
    | Hs_GenLoc_start = 124251212
    | Hs_GenLoc_end = 124357110
    | Hs_Uniprot = Q9NUX5
    | Mm_EntrezGene = 101185
    | Mm_Ensembl = ENSMUSG00000029676
    | Mm_RefseqmRNA = NM_133931
    | Mm_RefseqProtein = NP_598692
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 6
    | Mm_GenLoc_start = 25694591
    | Mm_GenLoc_end = 25745096
    | Mm_Uniprot = Q3UVD7
  }}
}}
'''POT1 protection of telomeres 1 homolog (S. pombe)''', also known as '''POT1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: POT1 POT1 protection of telomeres 1 homolog (S. pombe)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=25913| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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" />
{{PBB_Summary
| section_title =
| summary_text = 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 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. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described.<ref name="entrez">{{cite web | title = Entrez Gene: POT1 POT1 protection of telomeres 1 homolog (S. pombe)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=25913| accessdate = }}</ref>
}}


==References==
== Interactions ==
{{reflist|2}}
 
==Further reading==
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>
 
== Pathology ==
 
*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>
*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>
 
== References ==
{{reflist}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{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 }}
| citations =
* {{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 | author=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 = 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 | author=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=  }}
* {{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  | author=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 |year= 2001 |pmid= 11349150 |doi= 10.1126/science.1060036 }}
* {{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  | author=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 |year= 2002 |pmid= 12391173 |doi=  }}
* {{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  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
* {{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 | author=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 = 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 | author=Colgin LM, Baran K, Baumann P, ''et al.'' |title=Human POT1 facilitates telomere elongation by telomerase. |journal=Curr. Biol. |volume=13 |issue= 11 |pages= 942-6 |year= 2004 |pmid= 12781132 |doi=  }}
* {{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  | author=Hillier LW, Fulton RS, Fulton LA, ''et al.'' |title=The DNA sequence of human chromosome 7. |journal=Nature |volume=424 |issue= 6945 |pages= 157-64 |year= 2003 |pmid= 12853948 |doi= 10.1038/nature01782 }}
* {{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  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
* {{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 | author=Loayza D, Parsons H, Donigian J, ''et al.'' |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 = 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 | author=Kondo T, Oue N, Yoshida K, ''et al.'' |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= }}
* {{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 | author=Armbruster BN, Linardic CM, Veldman T, ''et al.'' |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 |doi= }}
* {{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 | author=Liu D, Safari A, O'Connor MS, ''et al.'' |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 | author=Ye JZ, Hockemeyer D, Krutchinsky AN, ''et al.'' |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 |doi= 10.1101/gad.1215404 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=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 | author=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 | author=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 |doi= 10.1128/MCB.25.2.808-818.2005 }}
*{{cite journal | author=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 |doi= 10.1128/MCB.25.3.1070-1080.2005 }}
*{{cite journal | author=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 }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
{{PDB Gallery|geneid=25913}}
{{WikiDoc Sources}}
 
[[Category:Telomeres]]
[[Category:Telomere-related genes]]
[[Category:Telomere-related proteins]]
 
 
{{gene-7-stub}}

Revision as of 18:28, 7 September 2017

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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]

Interactions

POT1 has been shown to interact with ACD[4][5][6] and TINF2.[5][6][7]

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 (Oct 2002). "Human Pot1 (Protection of Telomeres) Protein: Cytolocalization, Gene Structure, and Alternative Splicing". Mol Cell Biol. 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. ↑ 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 (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
  5. ↑ 5.0 5.1 Ye JZ, Hockemeyer D, Krutchinsky AN, Loayza D, Hooper SM, Chait BT, de Lange T (Jul 2004). "POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex". Genes Dev. 18 (14): 1649–54. doi:10.1101/gad.1215404. PMC 478187. PMID 15231715.
  6. ↑ 6.0 6.1 Liu D, Safari A, O'Connor MS, Chan DW, Laegeler A, Qin J, Songyang Z (Jul 2004). "PTOP interacts with POT1 and regulates its localization to telomeres". Nat. Cell Biol. 6 (7): 673–80. doi:10.1038/ncb1142. PMID 15181449.
  7. ↑ Loayza D, De Lange T (Jun 2003). "POT1 as a terminal transducer of TRF1 telomere length control". Nature. 423 (6943): 1013–8. doi:10.1038/nature01688. PMID 12768206.
  8. ↑ 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 (2013). "POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia". Nat. Genet. 45 (5): 526–30. doi:10.1038/ng.2584. PMID 23502782.
  9. ↑ 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 (2014). "POT1 loss-of-function variants predispose to familial melanoma". Nat. Genet. 46 (5): 478–81. doi:10.1038/ng.2947. PMC 4266105. PMID 24686849.
  10. ↑ 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 (2015). "Germline mutations in shelterin complex genes are associated with familial glioma". J. Natl. Cancer Inst. 107 (1): dju384. doi:10.1093/jnci/dju384. PMC 4296199. PMID 25482530.

Further reading


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