Protection Of Telomeres 1 Homolog (POT1)

hPot1; POT1-like telomere end-binding protein

SPN	N630
HGNC	17284
MGI	2141503
PubMed	23502782
RGD	1562696
UniProt	Q9NUX5
Wiki	POT1

POT1 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.Human POT1 encodes a 71-kD protein whose N-terminal region shares 26% identity with the N terminus of S. pombe Pot1. POT1 is a housekeeping gene required to ensure the integrity of chromosome ends in all cells.

Reference

"Pot1, the putative telomere end-binding protein in fission yeast and humans."
Science 292:1171-1175(2001) [PubMed] [Europe PMC] [Abstract]

"Human Pot1 (protection of telomeres) protein: cytolocalization, gene structure, and alternative splicing."
Mol. Cell. Biol. 22:8079-8087(2002) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of human chromosome 7."
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"The full-ORF clone resource of the German cDNA consortium."
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]

"Human POT1 facilitates telomere elongation by telomerase."
Curr. Biol. 13:942-946(2003) [PubMed] [Europe PMC] [Abstract]

"POT1 as a terminal transducer of TRF1 telomere length control."
Nature 423:1013-1018(2003) [PubMed] [Europe PMC] [Abstract]

"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. 279:13241-13248(2004) [PubMed] [Europe PMC] [Abstract]

"POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex."
Genes Dev. 18:1649-1654(2004) [PubMed] [Europe PMC] [Abstract]

"TIN2 binds TRF1 and TRF2 simultaneously and stabilizes the TRF2 complex on telomeres."
J. Biol. Chem. 279:47264-47271(2004) [PubMed] [Europe PMC] [Abstract]

"Telosome, a mammalian telomere-associated complex formed by multiple telomeric proteins."
J. Biol. Chem. 279:51338-51342(2004) [PubMed] [Europe PMC] [Abstract]

"Shelterin: the protein complex that shapes and safeguards human telomeres."
Genes Dev. 19:2100-2110(2005) [PubMed] [Europe PMC] [Abstract]

"The POT1-TPP1 telomere complex is a telomerase processivity factor."
Nature 445:506-510(2007) [PubMed] [Europe PMC] [Abstract]

"A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis."
Science 323:644-648(2009) [PubMed] [Europe PMC] [Abstract]

"Functional interaction between telomere protein TPP1 and telomerase."
Genes Dev. 24:613-622(2010) [PubMed] [Europe PMC] [Abstract]

"Structure of human POT1 bound to telomeric single-stranded DNA provides a model for chromosome end-protection."
Nat. Struct. Mol. Biol. 11:1223-1229(2004) [PubMed] [Europe PMC] [Abstract]

"POT1 loss-of-function variants predispose to familial melanoma."
Nat. Genet. 46:478-481(2014) [PubMed] [Europe PMC] [Abstract]

"Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma."
Nat. Genet. 46:482-486(2014) [PubMed] [Europe PMC] [Abstract]