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Wikipedia

POT1

August 25, 2023

Protection of telomeres protein 1 is a protein that in humans is encoded by the POT1 gene.[5][6][7]

POT1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPOT1, CMM10, HGLM9, protection of telomeres 1
External IDsOMIM: 606478 MGI: 2141503 HomoloGene: 32263 GeneCards: POT1
Orthologs
SpeciesHumanMouse
Entrez

25913

101185

Ensembl

ENSG00000128513

ENSMUSG00000029676

UniProt

Q9NUX5

Q91WC1

RefSeq (mRNA)

NM_001042594
NM_015450

NM_133931

RefSeq (protein)

NP_001036059
NP_056265
NP_001036059.1

NP_598692

Location (UCSC)Chr 7: 124.82 – 124.93 MbChr 6: 25.74 – 25.81 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function Edit

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.[7]

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.[8]

Interactions Edit

POT1 has been shown to interact with ACD[9][10][11] and TINF2.[10][11][12]

Pathology Edit

References Edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000128513 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029676 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Baumann P, Cech TR (May 2001). "Pot1, the putative telomere end-binding protein in fission yeast and humans". Science. 292 (5519): 1171–5. Bibcode:2001Sci...292.1171B. doi:10.1126/science.1060036. PMID 11349150. S2CID 11248384.
  6. ^ 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.
  7. ^ a b "Entrez Gene: POT1 POT1 protection of telomeres 1 homolog (S. pombe)".
  8. ^ 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. PMID 20493859.
  9. ^ 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. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
  10. ^ a b 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.
  11. ^ a b 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. S2CID 11543383.
  12. ^ Loayza D, De Lange T (June 2003). "POT1 as a terminal transducer of TRF1 telomere length control". Nature. 423 (6943): 1013–8. Bibcode:2003Natur.423.1013L. doi:10.1038/nature01688. PMID 12768206. S2CID 4370276.
  13. ^ 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. S2CID 9482133.
  14. ^ 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.
  15. ^ 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 Edit

  • de Lange T (September 2005). "Shelterin: the protein complex that shapes and safeguards human telomeres". Genes & Development. 19 (18): 2100–10. doi:10.1101/gad.1346005. PMID 16166375.
  • Bonaldo MF, Lennon G, Soares MB (September 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
  • Loayza D, De Lange T (June 2003). "POT1 as a terminal transducer of TRF1 telomere length control". Nature. 423 (6943): 1013–8. Bibcode:2003Natur.423.1013L. doi:10.1038/nature01688. PMID 12768206. S2CID 4370276.
  • Colgin LM, Baran K, Baumann P, Cech TR, Reddel RR (May 2003). "Human POT1 facilitates telomere elongation by telomerase". Current Biology. 13 (11): 942–6. doi:10.1016/S0960-9822(03)00339-7. PMID 12781132. S2CID 17801176.
  • Loayza D, Parsons H, Donigian J, Hoke K, de Lange T (March 2004). "DNA binding features of human POT1: a nonamer 5'-TAGGGTTAG-3' minimal binding site, sequence specificity, and internal binding to multimeric sites". The Journal of Biological Chemistry. 279 (13): 13241–8. doi:10.1074/jbc.M312309200. PMID 14715659.
  • Kondo T, Oue N, Yoshida K, Mitani Y, Naka K, Nakayama H, Yasui W (January 2004). "Expression of POT1 is associated with tumor stage and telomere length in gastric carcinoma". Cancer Research. 64 (2): 523–9. doi:10.1158/0008-5472.CAN-03-1196. PMID 14744765.
  • Armbruster BN, Linardic CM, Veldman T, Bansal NP, Downie DL, Counter CM (April 2004). "Rescue of an hTERT mutant defective in telomere elongation by fusion with hPot1". Molecular and Cellular Biology. 24 (8): 3552–61. doi:10.1128/MCB.24.8.3552-3561.2004. PMC 381596. PMID 15060173.
  • 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. S2CID 11543383.
  • 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.
  • Lei M, Podell ER, Cech TR (December 2004). "Structure of human POT1 bound to telomeric single-stranded DNA provides a model for chromosome end-protection". Nature Structural & Molecular Biology. 11 (12): 1223–9. doi:10.1038/nsmb867. PMID 15558049. S2CID 21018496.
  • Veldman T, Etheridge KT, Counter CM (December 2004). "Loss of hPot1 function leads to telomere instability and a cut-like phenotype". Current Biology. 14 (24): 2264–70. doi:10.1016/j.cub.2004.12.031. PMID 15620654. S2CID 18198999.
  • Kelleher C, Kurth I, Lingner J (January 2005). "Human protection of telomeres 1 (POT1) is a negative regulator of telomerase activity in vitro". Molecular and Cellular Biology. 25 (2): 808–18. doi:10.1128/MCB.25.2.808-818.2005. PMC 543404. PMID 15632080.
  • Yang Q, Zheng YL, Harris CC (February 2005). "POT1 and TRF2 cooperate to maintain telomeric integrity". Molecular and Cellular Biology. 25 (3): 1070–80. doi:10.1128/MCB.25.3.1070-1080.2005. PMC 544002. PMID 15657433.
  • Lei M, Zaug AJ, Podell ER, Cech TR (May 2005). "Switching human telomerase on and off with hPOT1 protein in vitro". The Journal of Biological Chemistry. 280 (21): 20449–56. doi:10.1074/jbc.M502212200. PMID 15792951.

External links Edit

  • PDBe-KB provides an overview of all the structure information available in the PDB for Human Protection of telomeres protein 1 (POT1)


 

This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by expanding it.

August 25, 2023
pot1, protection, telomeres, protein, protein, that, humans, encoded, gene, available, structurespdbortholog, search, pdbe, rcsblist, codes1xjv, 3kjo, 3kjpidentifiersaliases, cmm10, hglm9, protection, telomeres, 1external, idsomim, 606478, 2141503, homologene,. Protection of telomeres protein 1 is a protein that in humans is encoded by the POT1 gene 5 6 7 POT1Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes1XJV 3KJO 3KJPIdentifiersAliasesPOT1 CMM10 HGLM9 protection of telomeres 1External IDsOMIM 606478 MGI 2141503 HomoloGene 32263 GeneCards POT1Gene location Human Chr Chromosome 7 human 1 Band7q31 33Start124 822 386 bp 1 End124 929 983 bp 1 Gene location Mouse Chr Chromosome 6 mouse 2 Band6 6 A3 1Start25 743 736 bp 2 End25 809 245 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed insecondary oocytegerminal epitheliumAchilles tendonspermgastric mucosatibiaretinal pigment epitheliumcorpus callosumganglionic eminencevisceral pleuraTop expressed incumulus cellrenal corpuscleprimitive streakthymusmedullary collecting ductmedial ganglionic eminencemirrorsuperior cervical ganglionpineal glandsecondary oocyteMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionDNA binding telomeric DNA binding single stranded telomeric DNA binding DEAD H box RNA helicase binding protein binding G rich strand telomeric DNA binding telomerase inhibitor activity G rich single stranded DNA binding telomeric D loop binding telomeric G quadruplex DNA binding 8 hydroxy 2 deoxyguanosine DNA bindingCellular componentnuclear telomere cap complex nucleoplasm chromosome telomere nucleus shelterin complexBiological processnegative regulation of telomerase activity DNA duplex unwinding positive regulation of helicase activity positive regulation of telomerase activity establishment of protein localization to telomere telomere assembly positive regulation of DNA strand elongation telomere maintenance telomere capping regulation of DNA helicase activity positive regulation of DNA helicase activity telomeric D loop disassembly telomere maintenance via telomerase regulation of telomere maintenance via telomerase negative regulation of telomere maintenance via telomerase positive regulation of telomere maintenance via telomeraseSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez25913101185EnsemblENSG00000128513ENSMUSG00000029676UniProtQ9NUX5Q91WC1RefSeq mRNA NM 001042594NM 015450NM 133931RefSeq protein NP 001036059NP 056265NP 001036059 1NP 598692Location UCSC Chr 7 124 82 124 93 MbChr 6 25 74 25 81 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Interactions 3 Pathology 4 References 5 Further reading 6 External linksFunction EditThis 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 7 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 8 Interactions EditPOT1 has been shown to interact with ACD 9 10 11 and TINF2 10 11 12 Pathology EditIncreased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression Mutations in this gene have also been associated to the acquisition of the malignant features of chronic lymphocytic leukemia 13 POT1 loss of function variants predispose to familial melanoma 14 and glioma 15 References Edit a b c GRCh38 Ensembl release 89 ENSG00000128513 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000029676 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Baumann P Cech TR May 2001 Pot1 the putative telomere end binding protein in fission yeast and humans Science 292 5519 1171 5 Bibcode 2001Sci 292 1171B doi 10 1126 science 1060036 PMID 11349150 S2CID 11248384 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 a b Entrez Gene POT1 POT1 protection of telomeres 1 homolog S pombe 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 PMID 20493859 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 Bibcode 2005Natur 437 1173R doi 10 1038 nature04209 PMID 16189514 S2CID 4427026 a b 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 amp Development 18 14 1649 54 doi 10 1101 gad 1215404 PMC 478187 PMID 15231715 a b 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 S2CID 11543383 Loayza D De Lange T June 2003 POT1 as a terminal transducer of TRF1 telomere length control Nature 423 6943 1013 8 Bibcode 2003Natur 423 1013L doi 10 1038 nature01688 PMID 12768206 S2CID 4370276 Ramsay AJ Quesada V Foronda M Conde L Martinez 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 S2CID 9482133 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 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 Editde Lange T September 2005 Shelterin the protein complex that shapes and safeguards human telomeres Genes amp Development 19 18 2100 10 doi 10 1101 gad 1346005 PMID 16166375 Bonaldo MF Lennon G Soares MB September 1996 Normalization and subtraction two approaches to facilitate gene discovery Genome Research 6 9 791 806 doi 10 1101 gr 6 9 791 PMID 8889548 Loayza D De Lange T June 2003 POT1 as a terminal transducer of TRF1 telomere length control Nature 423 6943 1013 8 Bibcode 2003Natur 423 1013L doi 10 1038 nature01688 PMID 12768206 S2CID 4370276 Colgin LM Baran K Baumann P Cech TR Reddel RR May 2003 Human POT1 facilitates telomere elongation by telomerase Current Biology 13 11 942 6 doi 10 1016 S0960 9822 03 00339 7 PMID 12781132 S2CID 17801176 Loayza D Parsons H Donigian J Hoke K de Lange T March 2004 DNA binding features of human POT1 a nonamer 5 TAGGGTTAG 3 minimal binding site sequence specificity and internal binding to multimeric sites The Journal of Biological Chemistry 279 13 13241 8 doi 10 1074 jbc M312309200 PMID 14715659 Kondo T Oue N Yoshida K Mitani Y Naka K Nakayama H Yasui W January 2004 Expression of POT1 is associated with tumor stage and telomere length in gastric carcinoma Cancer Research 64 2 523 9 doi 10 1158 0008 5472 CAN 03 1196 PMID 14744765 Armbruster BN Linardic CM Veldman T Bansal NP Downie DL Counter CM April 2004 Rescue of an hTERT mutant defective in telomere elongation by fusion with hPot1 Molecular and Cellular Biology 24 8 3552 61 doi 10 1128 MCB 24 8 3552 3561 2004 PMC 381596 PMID 15060173 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 S2CID 11543383 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 amp Development 18 14 1649 54 doi 10 1101 gad 1215404 PMC 478187 PMID 15231715 Lei M Podell ER Cech TR December 2004 Structure of human POT1 bound to telomeric single stranded DNA provides a model for chromosome end protection Nature Structural amp Molecular Biology 11 12 1223 9 doi 10 1038 nsmb867 PMID 15558049 S2CID 21018496 Veldman T Etheridge KT Counter CM December 2004 Loss of hPot1 function leads to telomere instability and a cut like phenotype Current Biology 14 24 2264 70 doi 10 1016 j cub 2004 12 031 PMID 15620654 S2CID 18198999 Kelleher C Kurth I Lingner J January 2005 Human protection of telomeres 1 POT1 is a negative regulator of telomerase activity in vitro Molecular and Cellular Biology 25 2 808 18 doi 10 1128 MCB 25 2 808 818 2005 PMC 543404 PMID 15632080 Yang Q Zheng YL Harris CC February 2005 POT1 and TRF2 cooperate to maintain telomeric integrity Molecular and Cellular Biology 25 3 1070 80 doi 10 1128 MCB 25 3 1070 1080 2005 PMC 544002 PMID 15657433 Lei M Zaug AJ Podell ER Cech TR May 2005 Switching human telomerase on and off with hPOT1 protein in vitro The Journal of Biological Chemistry 280 21 20449 56 doi 10 1074 jbc M502212200 PMID 15792951 External links EditPDBe KB provides an overview of all the structure information available in the PDB for Human Protection of telomeres protein 1 POT1 This article on a gene on human chromosome 7 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title POT1 amp oldid 1142712311, wikipedia, wiki, book, books, library,

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