POT1

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POT1
Protein POT1 PDB 1xjv.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPOT1, CMM10, HGLM9, protection of telomeres 1
External IDsMGI: 2141503 HomoloGene: 32263 GeneCards: POT1
Gene location (Human)
Chromosome 7 (human)
Chr.Chromosome 7 (human)[1]
Chromosome 7 (human)
Genomic location for POT1
Genomic location for POT1
Band7q31.33Start124,822,386 bp[1]
End124,929,983 bp[1]
RNA expression pattern
PBB GE POT1 204353 s at fs.png

PBB GE POT1 204354 at fs.png
More reference expression data
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[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:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ 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. 
  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 134737Freely accessible. 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 2942089Freely accessible. 
  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. doi:10.1038/nature04209. PMID 16189514. 
  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 478187Freely accessible. 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. 
  12. ^ 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. 
  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. 
  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 4266105Freely accessible. 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 4296199Freely accessible. PMID 25482530. 

Further reading[edit]