POT1

From Wikipedia, the free encyclopedia

POT1 protection of telomeres 1 homolog (S. pombe)

PDB rendering based on 1xjv.

Available structures: 1xjv

Identifiers

Symbol(s)

POT1; DKFZP586D211; hPot1

External IDs

OMIM: 606478 MGI: 2141503 HomoloGene: 32263

Gene ontology
Molecular Function:	• DNA binding • protein binding • single-stranded telomeric DNA binding
Cellular Component:	• nuclear chromosome, telomeric region • nucleus • chromosome
Biological Process:	• telomere maintenance • telomere maintenance via telomerase

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_001042594 (mRNA)
NP_001036059 (protein)

NM_133931 (mRNA)
NP_598692 (protein)

Location

Chr 7: 124.25 - 124.36 Mb

Chr 6: 25.69 - 25.75 Mb

Pubmed search

[1]

[2]

POT1 protection of telomeres 1 homolog (S. pombe), also known as POT1, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: POT1 POT1 protection of telomeres 1 homolog (S. pombe).

[edit] Further reading

de Lange T (2005). "Shelterin: the protein complex that shapes and safeguards human telomeres.". Genes Dev. 19 (18): 2100–10. doi:10.1101/gad.1346005. PMID 16166375.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. PMID 8889548.
Baumann P, Cech TR (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.
Baumann P, Podell E, Cech TR (2002). "Human Pot1 (protection of telomeres) protein: cytolocalization, gene structure, and alternative splicing.". Mol. Cell. Biol. 22 (22): 8079–87. PMID 12391173.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Loayza D, De Lange T (2003). "POT1 as a terminal transducer of TRF1 telomere length control.". Nature 423 (6943): 1013–8. doi:10.1038/nature01688. PMID 12768206.
Colgin LM, Baran K, Baumann P, et al. (2004). "Human POT1 facilitates telomere elongation by telomerase.". Curr. Biol. 13 (11): 942–6. PMID 12781132.
Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7.". Nature 424 (6945): 157–64. doi:10.1038/nature01782. PMID 12853948.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Loayza D, Parsons H, Donigian J, et al. (2004). "DNA binding features of human POT1: a nonamer 5'-TAGGGTTAG-3' minimal binding site, sequence specificity, and internal binding to multimeric sites.". J. Biol. Chem. 279 (13): 13241–8. doi:10.1074/jbc.M312309200. PMID 14715659.
Kondo T, Oue N, Yoshida K, et al. (2004). "Expression of POT1 is associated with tumor stage and telomere length in gastric carcinoma.". Cancer Res. 64 (2): 523–9. PMID 14744765.
Armbruster BN, Linardic CM, Veldman T, et al. (2004). "Rescue of an hTERT mutant defective in telomere elongation by fusion with hPot1.". Mol. Cell. Biol. 24 (8): 3552–61. PMID 15060173.
Liu D, Safari A, O'Connor MS, et al. (2004). "PTOP interacts with POT1 and regulates its localization to telomeres.". Nat. Cell Biol. 6 (7): 673–80. doi:10.1038/ncb1142. PMID 15181449.
Ye JZ, Hockemeyer D, Krutchinsky AN, et al. (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. PMID 15231715.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
Lei M, Podell ER, Cech TR (2005). "Structure of human POT1 bound to telomeric single-stranded DNA provides a model for chromosome end-protection.". Nat. Struct. Mol. Biol. 11 (12): 1223–9. doi:10.1038/nsmb867. PMID 15558049.
Veldman T, Etheridge KT, Counter CM (2005). "Loss of hPot1 function leads to telomere instability and a cut-like phenotype.". Curr. Biol. 14 (24): 2264–70. doi:10.1016/j.cub.2004.12.031. PMID 15620654.
Kelleher C, Kurth I, Lingner J (2005). "Human protection of telomeres 1 (POT1) is a negative regulator of telomerase activity in vitro.". Mol. Cell. Biol. 25 (2): 808–18. doi:10.1128/MCB.25.2.808-818.2005. PMID 15632080.
Yang Q, Zheng YL, Harris CC (2005). "POT1 and TRF2 cooperate to maintain telomeric integrity.". Mol. Cell. Biol. 25 (3): 1070–80. doi:10.1128/MCB.25.3.1070-1080.2005. PMID 15657433.
Lei M, Zaug AJ, Podell ER, Cech TR (2005). "Switching human telomerase on and off with hPOT1 protein in vitro.". J. Biol. Chem. 280 (21): 20449–56. doi:10.1074/jbc.M502212200. PMID 15792951.