Property Summary

NCBI Gene PubMed Count 95
PubMed Score 58.31
PubTator Score 151.51

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
posterior fossa group B ependymoma 1.400 8.9e-10
sonic hedgehog group medulloblastoma 1.600 6.2e-08
lung cancer 1.800 3.8e-05
Pick disease -1.100 5.7e-04
progressive supranuclear palsy -1.200 2.3e-02
ovarian cancer 1.300 3.6e-03

Protein-protein Interaction (6)

Gene RIF (71)

PMID Text
27013236 Coats plus is caused by a defect in POT1/CST-dependent telomere fill-in
26403419 Missense variant p.R117C is associated with cardiac angiosarcoma in TP-53 negative Li-Fraumeni-like families. Mutation carriers show reduced telomere-bound POT1 levels, abnormally long telomeres and increased telomere fragility.
26365187 The conservation between fission yeast Tpz1-Pot1 and human TPP1-POT1 interactions resulted in mapping a human melanoma-associated POT1 mutation (A532P) to the TPP1-POT1 interface.
26105212 Downregulation of Protection of Telomeres 1 expression in myelodysplastic syndromes with 7q deletion.
25934589 OB-fold domain 1 of human POT1 recognizes both telomeric and non-telomeric DNA motifs
25263700 these data provide a molecular basis by which POT1-TPP1 increases the processivity of telomerase15. Further, we show that this increased processivity may arise from the dynamic sliding of POT1-TPP1 that induces fast translocation of telomerase.
25194444 The clinicopathological findings differed in the expression of hPOT1.
24892036 Expression of shelterin component POT1 is associated with decreased telomere length and immunity condition in humans with severe aplastic anemia.
24686849 POT1 loss-of-function variants predispose to melanoma formation via a direct effect on telomeres.
24686846 Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma.
24631651 TMPyP4 (meso-tetra(N-methyl-4-pyridyl)porphine) has been widely used as G-quadruplex binding ligand, which stabilized the G-quadruplex in vitro and in cellulo, resulting in down-regulation of pot1 gene transcription.
24516170 G-quadruplex formation of telomeres significantly enhances the ability of POT1/TPP1 to block RPA's access to telomeres.
24239198 the participation of POT1 in the transformation process from MGUS to MM, and provide evidence of this gene as a useful prognostic factor in MM as well as a possible molecular target to design new therapeutic strategies.
24054699 study found POT1 exists in at least 3 forms;90,70 and 45kD;abundance of the POT1 forms can be altered by modulation of POT1 nuclear localization; evidence that there are posttranslational modifications of POT1 that can affect its molecular weight, intracellular localization and function
23616058 POT1-TPP1 binds telomeric DNA in a coordinated manner to facilitate assembly of the nucleoprotein complexes into a state that is more accessible to enzymatic activity.
23502782 POT1 mutations cause telomere dysfunction and is associated with chronic lymphocytic leukemia.
23317234 Gene variation of pot1 Exon14 is associated with endometrial cancer
22336916 The POT1 stimulates the binding and enzymatic activities of the LP-BER proteins APE1, FEN1 and LigI both individually and when they act together in reconstituted LP-BER using a telomeric substrate.
21778296 The effects of hPOT1 RNAi seem to be functionally linked to up-regulation of PinX1 and down-regulation of hTERT.
21684252 These results suggest that FOXP2 is a binding partner for the nuclear translocation of POT1.
21461822 The human POT1-TPP1 complex is a processivity factor for telomerase.
21399625 data suggest that hnRNPA1, TERRA and POT1 act in concert to displace RPA from telomeric ssDNA after DNA replication, and promote telomere capping to preserve genomic integrity
21209389 Mouse gene deletion experiments revealed DNA-damage-response pathways that threaten chromosome ends and how the components of the telomeric shelterin complex prevent activation of these pathways.[Shelterin]
21183684 telomeric tails rarely form the maximum potential number of G4 units provides a structural basis for the coexistence of G4 and POT1 on the same DNA molecule
21048031 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20937264 Observational study of gene-disease association. (HuGE Navigator)
20811636 the protein network surrounding telomere repeat binding factors, TRF1, TRF2, and POT1 using dual-tag affinity purification
20549820 Observational study of gene-disease association. (HuGE Navigator)
20094033 Results support a model in which POT1-TPP1 enhances telomerase processivity in a manner markedly different from the sliding clamps used by DNA polymerases.
20056641 Four single nucleotide polymorphisms in the TERT and POT1 genes were significantly related with overall breast cancer risk.
20056641 Observational study of gene-disease association. (HuGE Navigator)
20008939 role for hPOT1 during telomere replication
19854130 Ctc1-Stn1-Ten1 is a replication protein A (RPA)-like complex that is not directly involved in conventional DNA replication at forks but plays a role in DNA metabolism frequently required by telomeres.
19812417 Data support RPA enhancement of branch migration during homologous recombination repair and, conversely, POT1 limitation of inappropriate recombination and branch migration at telomeric ends.
19773453 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19766477 Observational study of gene-disease association. (HuGE Navigator)
19734539 POT1 binds with higher affinity to telomeric D-loops with 8-oxo-2'-deoxyguanosine.
19692168 Observational study of gene-disease association. (HuGE Navigator)
19651898 the association of POT1 with both ssDNA and TRF2 is critical for telomere length homeostasis.
19648609 Studies indicate that TPP1 and POT1can form heterodimers that bind to the telomeric single-stranded DNA, an activity that is central for telomere end capping.
19625176 Observational study of gene-disease association. (HuGE Navigator)
19424630 Increased expression of POT1 correlates with resistance to radiation in human laryngeal cancer cell lines.
19285750 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19262689 POT1v1 and RPA are capable of stimulating WRN helicase on gapped DNA and 5'-overhang substrates, respectively
19170196 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
18955498 study shows that human POT1 combines the features of POT1a and POT1b
18922974 Diploid human fibroblasts in which hPOT1 expression has been suppressed harbor telomeres that are longer than control cells.
18676680 Observational study of gene-disease association. (HuGE Navigator)
18519588 Binding of POT1 to telomeric single-stranded DNA and association with TPP1 inhibit the localization of RPA, which can function as a DNA damage sensor, to telomeres.
18425352 Data show that Pot1 production is closely associated with telomere length in gastric mucosa and cancers, and that Pot1 might be a good in situ marker for the examination of cell-specific telomere length.
18178559 TRF1 and TRF2 bind to the dsDNA of telomeres, whereas POT1 binds to the ssDNA portion
18066078 Pot1 seems to regulate telomere length through direct interaction with the telomere and by preventing a late S/G2 delay in the cell cycle.
17848914 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
17632522 Tpp1 is required for the protective function of Pot1 proteins.
17237768 crystal structure of human TPP1 reveals an oligonucleotide/oligosaccharide-binding fold that is structurally similar to the beta-subunit of the telomere end-binding protein of a ciliated protozoan; TPP1 is the missing beta-subunit of human POT1
17237767 findings highlight the critical role of TPP1 in telomere maintenance, and support a yin-yang model in which TPP1 and POT1 function as a unit to protect human telomeres, by both positively and negatively regulating telomerase access to telomere DNA
16043710 additional role for POT1 in telomere maintenance: disrupting G-quadruplex structures in telomeric DNA, thereby allowing proper elongation by telomerase
16030011 POT1 and RecQ helicases WRN and BLM have cooperative roles in resolving DNA structures at telomeric ends, in a manner that protects the telomeric 3' tail as it is exposed during unwinding
15973431 determines the structure of the 3' and 5' ends of human chromosomes
15792951 depending on its location relative to the DNA 3'-end, protection of telomeres 1 protein (POT1) can either inhibit telomerase action or form a preferred substrate for telomerase
15657433 The reduction of POT1 by RNA interference led to the loss of telomeric single-stranded overhangs and induced apoptosis, chromosomal instability, and senescence in cells.
15632080 Data show that protection of telomeres 1 (POT1) negatively affects telomerase activity in vitro, and that the DNA binding activity of POT1 is required for telomerase inhibition.
15620654 Pot1 protects chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation.
15558049 crystal structure at a resolution of 1.73 A of the N-terminal half of human POT1 (hPOT1) protein bound to a telomeric single-stranded DNA (ssDNA) decamer, TTAGGGTTAG, the minimum tight-binding sequence indicated by in vitro binding assays
15181449 PTOP heterodimerizes with POT1 and regulates POT1 telomeric recruitment and telomere length.
15060173 Data show that a DAT domain mutant of hTERT is efficiently rescued upon fusion to hPot1.
14744765 Changes in POT1 expression levels may be associated with stomach carcinogenesis and progression.
14715659 POT1 has a strong sequence preference for the human telomeric repeat tract and can bind both the 3' telomeric overhang and the displaced TTAGGG repeats at the base of the t-loop
12781132 hPOT1 can act as a telomerase-dependent, positive regulator of telomere length
12768206 the interaction between the TRF1 complex and POT1 affects the loading of POT1 on the single-stranded telomeric DNA, thus transmitting information about telomere length to the telomere terminus, where telomerase is regulated
12391173 Data show that epitope-tagged human protection of telomeres protein (Pot1) localizes to telomeres in interphase nuclei of human cells, consistent with a direct role in telomere end protection.

AA Sequence

MSLVPATNYIYTPLNQLKGGTIVNVYGVVKFFKPPYLSKGTDYCSVVTIVDQTNVKLTCLLFSGNYEALP      1 - 70
IIYKNGDIVRFHRLKIQVYKKETQGITSSGFASLTFEGTLGAPIIPRTSSKYFNFTTEDHKMVEALRVWA     71 - 140
STHMSPSWTLLKLCDVQPMQYFDLTCQLLGKAEVDGASFLLKVWDGTRTPFPSWRVLIQDLVLEGDLSHI    141 - 210
HRLQNLTIDILVYDNHVHVARSLKVGSFLRIYSLHTKLQSMNSENQTMLSLEFHLHGGTSYGRGIRVLPE    211 - 280
SNSDVDQLKKDLESANLTANQHSDVICQSEPDDSFPSSGSVSLYEVERCQQLSATILTDHQYLERTPLCA    281 - 350
ILKQKAPQQYRIRAKLRSYKPRRLFQSVKLHCPKCHLLQEVPHEGDLDIIFQDGATKTPDVKLQNTSLYD    351 - 420
SKIWTTKNQKGRKVAVHFVKNNGILPLSNECLLLIEGGTLSEICKLSNKFNSVIPVRSGHEDLELLDLSA    421 - 490
PFLIQGTIHHYGCKQCSSLRSIQNLNSLVDKTSWIPSSVAEALGIVPLQYVFVMTFTLDDGTGVLEAYLM    491 - 560
DSDKFFQIPASEVLMDDDLQKSVDMIMDMFCPPGIKIDAYPWLECFIKSYNVTNGTDNQICYQIFDTTVA    561 - 630
EDVI                                                                      631 - 634
//

Text Mined References (100)

PMID Year Title
27013236 2016 A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus.
26586433 2015 ATM and ATR Signaling Regulate the Recruitment of Human Telomerase to Telomeres.
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26403419 2015 A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families.
26365187 2015 Dissecting Fission Yeast Shelterin Interactions via MICro-MS Links Disruption of Shelterin Bridge to Tumorigenesis.
26105212 2016 Downregulation of Protection of Telomeres 1 expression in myelodysplastic syndromes with 7q deletion.
25934589 2015 The OB-fold domain 1 of human POT1 recognizes both telomeric and non-telomeric DNA motifs.
25620558 2015 TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding.
25589350 2015 Single-strand DNA-binding protein SSB1 facilitates TERT recruitment to telomeres and maintains telomere G-overhangs.
25482530 2015 Germline mutations in shelterin complex genes are associated with familial glioma.
25416956 2014 A proteome-scale map of the human interactome network.
25263700 2014 Single-molecule real-time detection of telomerase extension activity.
25194444 2014 Telomere 1 (POT1) gene expression and its association with telomerase activity in colorectal tumor samples with different pathological features.
25172512 2014 The shelterin component TPP1 is a binding partner and substrate for the deubiquitinating enzyme USP7.
24892036 2014 Expression of Shelterin component POT1 is associated with decreased telomere length and immunity condition in humans with severe aplastic anemia.
24686849 2014 POT1 loss-of-function variants predispose to familial melanoma.
24686846 2014 Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma.
24631651 2014 G-quadruplex-mediated regulation of telomere binding protein POT1 gene expression.
24516170 2014 G-quadruplex formation in telomeres enhances POT1/TPP1 protection against RPA binding.
24292274 2014 A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
24270157 2013 A quantitative telomeric chromatin isolation protocol identifies different telomeric states.
24239198 Expression profile of shelterin components in plasma cell disorders. Clinical significance of POT1 overexpression.
24054699 2013 Evidence for multiple forms and modifications of human POT1.
23685356 2013 HOT1 is a mammalian direct telomere repeat-binding protein contributing to telomerase recruitment.
23616058 2013 Coordinated interactions of multiple POT1-TPP1 proteins with telomere DNA.
23502782 2013 POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia.
23317234 2012 Expression of hPOT1 in HeLa cells and the probability of gene variation of hpot1 Exon14 in endometrial cancer are much higher than in other cancers.
22763445 2012 The human CST complex is a terminator of telomerase activity.
22336916 2012 Telomere proteins POT1, TRF1 and TRF2 augment long-patch base excision repair in vitro.
21852327 2011 Characterization of the DNA binding specificity of Shelterin complexes.
21778296 2011 Silencing of the hPOT1 gene by RNA inference promotes apoptosis and inhibits proliferation and aggressive phenotype of gastric cancer cells, likely through up-regulating PinX1 expression.
21684252 2011 FOXP2 promotes the nuclear translocation of POT1, but FOXP2(R553H), mutation related to speech-language disorder, partially prevents it.
21461822 2011 Human telomere POT1-TPP1 complex and its role in telomerase activity regulation.
21399625 2011 TERRA and hnRNPA1 orchestrate an RPA-to-POT1 switch on telomeric single-stranded DNA.
21209389 2010 How shelterin solves the telomere end-protection problem.
21183684 2011 Single molecule studies of physiologically relevant telomeric tails reveal POT1 mechanism for promoting G-quadruplex unfolding.
21048031 2011 Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
21044950 2011 Genome-wide YFP fluorescence complementation screen identifies new regulators for telomere signaling in human cells.
20937264 2011 Genetic variants in eleven telomere-associated genes and the risk of incident cardio/cerebrovascular disease: The Women's Genome Health Study.
20811636 2010 The protein network surrounding the human telomere repeat binding factors TRF1, TRF2, and POT1.
20549820 2010 Telomere length and genetic analyses in population-based studies of endometrial cancer risk.
20231318 2010 Functional interaction between telomere protein TPP1 and telomerase.
20094033 2010 POT1-TPP1 enhances telomerase processivity by slowing primer dissociation and aiding translocation.
20056641 2010 Multiple genetic variants in telomere pathway genes and breast cancer risk.
20008939 2009 Human POT1 is required for efficient telomere C-rich strand replication in the absence of WRN.
19854130 2009 RPA-like mammalian Ctc1-Stn1-Ten1 complex binds to single-stranded DNA and protects telomeres independently of the Pot1 pathway.
19812417 2009 Replication protein A stimulates the Werner syndrome protein branch migration activity.
19773453 2009 Polymorphisms in telomere maintenance genes and risk of lung cancer.
19766477 2009 Polymorphisms in telomere-associated genes, breast cancer susceptibility and prognosis.
19734539 2009 Telomeric D-loops containing 8-oxo-2'-deoxyguanosine are preferred substrates for Werner and Bloom syndrome helicases and are bound by POT1.
19692168 2010 Genetic susceptibility to distinct bladder cancer subphenotypes.
19651898 2009 POT1 association with TRF2 regulates telomere length.
19648609 2009 OB fold-containing protein 1 (OBFC1), a human homolog of yeast Stn1, associates with TPP1 and is implicated in telomere length regulation.
19625176 2009 PTEN identified as important risk factor of chronic obstructive pulmonary disease.
19424630 2009 Increased expression of telomere-related proteins correlates with resistance to radiation in human laryngeal cancer cell lines.
19285750 2009 Genetic variation in telomere maintenance genes, telomere length, and lung cancer susceptibility.
19262689 2009 Mechanism of Werner DNA helicase: POT1 and RPA stimulates WRN to unwind beyond gaps in the translocating strand.
19179534 2009 A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis.
19170196 2009 Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
19135898 2009 Purification of proteins associated with specific genomic Loci.
18955498 2009 Functional dissection of human and mouse POT1 proteins.
18922974 2008 Suppression of hPOT1 in diploid human cells results in an hTERT-dependent alteration of telomere length dynamics.
18676680 2008 Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.
18519588 2008 Distinct functions of POT1 at telomeres.
18425352 2008 Protection of telomeres 1 protein levels are associated with telomere length in gastric cancer.
18178559 2008 Tethering telomeric double- and single-stranded DNA-binding proteins inhibits telomere elongation.
18066078 2008 Pot1 and cell cycle progression cooperate in telomere length regulation.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17848914 2007 Genetic variation in five genes important in telomere biology and risk for breast cancer.
17632522 2007 Telomere protection by mammalian Pot1 requires interaction with Tpp1.
17237768 2007 The POT1-TPP1 telomere complex is a telomerase processivity factor.
17237767 2007 TPP1 is a homologue of ciliate TEBP-beta and interacts with POT1 to recruit telomerase.
16880378 2006 A critical role for TPP1 and TIN2 interaction in high-order telomeric complex assembly.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
16166375 2005 Shelterin: the protein complex that shapes and safeguards human telomeres.
16043710 2005 Human POT1 disrupts telomeric G-quadruplexes allowing telomerase extension in vitro.
16030011 2005 POT1 stimulates RecQ helicases WRN and BLM to unwind telomeric DNA substrates.
15973431 2005 POT1 protects telomeres from a transient DNA damage response and determines how human chromosomes end.
15792951 2005 Switching human telomerase on and off with hPOT1 protein in vitro.
15657433 2005 POT1 and TRF2 cooperate to maintain telomeric integrity.
15632080 2005 Human protection of telomeres 1 (POT1) is a negative regulator of telomerase activity in vitro.
15620654 2004 Loss of hPot1 function leads to telomere instability and a cut-like phenotype.
15558049 2004 Structure of human POT1 bound to telomeric single-stranded DNA provides a model for chromosome end-protection.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15383534 2004 Telosome, a mammalian telomere-associated complex formed by multiple telomeric proteins.
15316005 2004 TIN2 binds TRF1 and TRF2 simultaneously and stabilizes the TRF2 complex on telomeres.
15231715 2004 POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex.
15181449 2004 PTOP interacts with POT1 and regulates its localization to telomeres.
15060173 2004 Rescue of an hTERT mutant defective in telomere elongation by fusion with hPot1.
14744765 2004 Expression of POT1 is associated with tumor stage and telomere length in gastric carcinoma.
14715659 2004 DNA binding features of human POT1: a nonamer 5'-TAGGGTTAG-3' minimal binding site, sequence specificity, and internal binding to multimeric sites.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12853948 2003 The DNA sequence of human chromosome 7.
12781132 2003 Human POT1 facilitates telomere elongation by telomerase.
12768206 2003 POT1 as a terminal transducer of TRF1 telomere length control.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12391173 2002 Human Pot1 (protection of telomeres) protein: cytolocalization, gene structure, and alternative splicing.
11349150 2001 Pot1, the putative telomere end-binding protein in fission yeast and humans.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.