Property Summary

NCBI Gene PubMed Count 95
Grant Count 43
R01 Count 34
Funding $7,261,935.44
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 0.000
sonic hedgehog group medulloblastoma 1.600 0.000
lung cancer 1.800 0.000
Pick disease -1.100 0.001
progressive supranuclear palsy -1.200 0.023
ovarian cancer 1.300 0.004

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.
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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.
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