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Gene Review

POT1  -  protection of telomeres 1

Homo sapiens

Synonyms: CMM10, DKFZp586D211, HPOT1, POT1-like telomere end-binding protein, Protection of telomeres protein 1, ...
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Disease relevance of POT1

  • Finally, ectopic expression of hTERT in one HTLV-1 T cell line induces a marked decrease in the transcription of the POT1 gene [1].
  • Thus, we examined POT1 mRNA expression in 51 gastric cancer (GC) tissues and evaluated telomere length and 3' telomeric overhang signals in 20 of the 51 GC tissues [2].

High impact information on POT1


Biological context of POT1


Anatomical context of POT1

  • Reduced POT1 expression was observed in GC cell lines with telomeres shortened by treatment with azidothymidine [2].
  • Quantitative reverse transcription-PCR analysis showed that POT1 expression levels in the tumor relative to those in nonneoplastic mucosa (T/N ratio) were significantly higher in stage III/IV tumors than in stage I/II tumors (P = 0.005) [2].

Associations of POT1 with chemical compounds


Physical interactions of POT1

  • Furthermore, POT1 binding was regulated by the TRF1 complex in response to telomere length [13].
  • The treatment of human EcR293 cells by telomestatin induces a dramatic and rapid delocalization of POT1 from its normal telomere sites but does not affect the telomere localization of the double-stranded telomere-binding protein TRF2 [14].
  • TPP1 is a previously identified binding partner of POT1 that has been proposed to form part of a six-protein shelterin complex at telomeres [15].

Regulatory relationships of POT1


Other interactions of POT1

  • Furthermore, expression of the respective interaction domains on PTOP and POT1 alone extended telomere length in human cells [6].
  • POT1 as a terminal transducer of TRF1 telomere length control [13].
  • Next, the down-regulation of hTERT transcription by Tax in HTLV-1 transformed or in Tax-expressing T lymphocytes is found to correlate with a significant increase of TRF2 and/or Pot1 mRNAs [1].
  • We found that TRF1 and TRF2 are overexpressed in in vivo patient's samples from ATL but not asymptomatic carriers, while levels of POT1 expression did not specifically increase in ATL [17].
  • Chromosome telomeres of humans and many model organisms contain a structure called a t-loop, which is maintained by TERF, TINF2, Pot1, and other proteins [18].

Analytical, diagnostic and therapeutic context of POT1


  1. A balanced transcription between telomerase and the telomeric DNA-binding proteins TRF1, TRF2 and Pot1 in resting, activated, HTLV-1-transformed and Tax-expressing human T lymphocytes. Escoffier, E., Rezza, A., Roborel de Climens, A., Belleville, A., Gazzolo, L., Gilson, E., Duc Dodon, M. Retrovirology (2005) [Pubmed]
  2. Expression of POT1 is associated with tumor stage and telomere length in gastric carcinoma. Kondo, T., Oue, N., Yoshida, K., Mitani, Y., Naka, K., Nakayama, H., Yasui, W. Cancer Res. (2004) [Pubmed]
  3. Regulation of telomerase by telomeric proteins. Smogorzewska, A., de Lange, T. Annu. Rev. Biochem. (2004) [Pubmed]
  4. Recent expansion of the telomeric complex in rodents: Two distinct POT1 proteins protect mouse telomeres. Hockemeyer, D., Daniels, J.P., Takai, H., de Lange, T. Cell (2006) [Pubmed]
  5. Pot1, the putative telomere end-binding protein in fission yeast and humans. Baumann, P., Cech, T.R. Science (2001) [Pubmed]
  6. PTOP interacts with POT1 and regulates its localization to telomeres. Liu, D., Safari, A., O'Connor, M.S., Chan, D.W., Laegeler, A., Qin, J., Songyang, Z. Nat. Cell Biol. (2004) [Pubmed]
  7. TPP1 is a homologue of ciliate TEBP-beta and interacts with POT1 to recruit telomerase. Xin, H., Liu, D., Wan, M., Safari, A., Kim, H., Sun, W., O'Connor, M.S., Songyang, Z. Nature (2007) [Pubmed]
  8. Loss of hPot1 function leads to telomere instability and a cut-like phenotype. Veldman, T., Etheridge, K.T., Counter, C.M. Curr. Biol. (2004) [Pubmed]
  9. Human protection of telomeres 1 (POT1) is a negative regulator of telomerase activity in vitro. Kelleher, C., Kurth, I., Lingner, J. Mol. Cell. Biol. (2005) [Pubmed]
  10. POT1 and TRF2 cooperate to maintain telomeric integrity. Yang, Q., Zheng, Y.L., Harris, C.C. Mol. Cell. Biol. (2005) [Pubmed]
  11. Vertebrate POT1 restricts G-overhang length and prevents activation of a telomeric DNA damage checkpoint but is dispensable for overhang protection. Churikov, D., Wei, C., Price, C.M. Mol. Cell. Biol. (2006) [Pubmed]
  12. Purification and characterization of the western spruce budworm larval midgut proteinases and comparison of gut activities of laboratory-reared and field-collected insects. Valaitis, A.P., Augustin, S., Clancy, K.M. Insect Biochem. Mol. Biol. (1999) [Pubmed]
  13. POT1 as a terminal transducer of TRF1 telomere length control. Loayza, D., De Lange, T. Nature (2003) [Pubmed]
  14. The G-quadruplex ligand telomestatin inhibits POT1 binding to telomeric sequences in vitro and induces GFP-POT1 dissociation from telomeres in human cells. Gomez, D., O'Donohue, M.F., Wenner, T., Douarre, C., Macadré, J., Koebel, P., Giraud-Panis, M.J., Kaplan, H., Kolkes, A., Shin-ya, K., Riou, J.F. Cancer Res. (2006) [Pubmed]
  15. The POT1-TPP1 telomere complex is a telomerase processivity factor. Wang, F., Podell, E.R., Zaug, A.J., Yang, Y., Baciu, P., Cech, T.R., Lei, M. Nature (2007) [Pubmed]
  16. Switching human telomerase on and off with hPOT1 protein in vitro. Lei, M., Zaug, A.J., Podell, E.R., Cech, T.R. J. Biol. Chem. (2005) [Pubmed]
  17. Increased expression of telomere length regulating factors TRF1, TRF2 and TIN2 in patients with adult T-cell leukemia. Bellon, M., Datta, A., Brown, M., Pouliquen, J.F., Couppie, P., Kazanji, M., Nicot, C. Int. J. Cancer (2006) [Pubmed]
  18. Polypeptide components of telomere nucleoprotein complex. Kuimov, A.N. Biochemistry Mosc. (2004) [Pubmed]
  19. Human Pot1 (protection of telomeres) protein: cytolocalization, gene structure, and alternative splicing. Baumann, P., Podell, E., Cech, T.R. Mol. Cell. Biol. (2002) [Pubmed]
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