POT1

Protection of telomeres 1 homolog (S. pombe)
PDB rendering based on 1xjv.
Available structures PDB 1XJV, 3KJO, 3KJP
Identifiers
Symbols	POT1; DKFZp586D211; HPOT1
External IDs	OMIM: 606478 MGI: 2141503 HomoloGene: 32263 GeneCards: POT1 Gene
Gene Ontology Molecular function • DNA binding • protein binding • telomerase inhibitor activity • DEAD/H-box RNA helicase binding • single-stranded telomeric DNA binding • single-stranded telomeric DNA binding Cellular component • chromosome, telomeric region • nuclear telomere cap complex • nucleus • nucleoplasm • nucleoplasm • chromosome Biological process • telomere maintenance • telomere maintenance via telomerase • telomere capping • telomere capping • telomere formation via telomerase • negative regulation of telomere maintenance via telomerase • positive regulation of telomere maintenance via telomerase • DNA duplex unwinding • positive regulation of helicase activity • positive regulation of telomerase activity • negative regulation of telomerase activity • positive regulation of DNA strand elongation Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	25913	101185
Ensembl	ENSG00000128513	ENSMUSG00000029676
UniProt	Q9NUX5	Q3UVD7
RefSeq (mRNA)	NM_001042594.1	NM_133931.4
RefSeq (protein)	NP_001036059.1	NP_598692.1
Location (UCSC)	Chr 7: 124.46 – 124.57 Mb	Chr 6: 25.69 – 25.76 Mb
PubMed search	[1]	[2]

Protection of telomeres protein 1 is a protein that in humans is encoded by the POT1 gene.

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.

Interactions

POT1 has been shown to interact with ACD and TINF2.

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. doi:10.1101/gr.6.9.791. PMID 8889548. 
• 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. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• 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. doi:10.1016/S0960-9822(03)00339-7. 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. doi:10.1158/0008-5472.CAN-03-1196. 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. doi:10.1128/MCB.24.8.3552-3561.2004. PMC 381596. PMID 15060173. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=381596. 
• 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. PMC 478187. PMID 15231715. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=478187. 
• 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. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928. 
• 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. PMC 543404. PMID 15632080. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=543404. 
• 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. PMC 544002. PMID 15657433. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=544002. 
• 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.