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POT1

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

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

Function

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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

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

Pathology

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000128513Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029676Ensembl, 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, 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, et al. (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, et al. (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, 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.[permanent dead link]
  14. ^ Robles-Espinoza CD, Harland M, Ramsay AJ, 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, 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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  • PDBe-KB provides an overview of all the structure information available in the PDB for Human Protection of telomeres protein 1 (POT1)