2024-03-29 17:50:12, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_015450 4095 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens protection of telomeres 1 (POT1), transcript variant 1, mRNA. ACCESSION NM_015450 VERSION NM_015450.2 GI:98991775 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 4095) AUTHORS Ramsay,A.J., Quesada,V., Foronda,M., Conde,L., Martinez-Trillos,A., Villamor,N., Rodriguez,D., Kwarciak,A., Garabaya,C., Gallardo,M., Lopez-Guerra,M., Lopez-Guillermo,A., Puente,X.S., Blasco,M.A., Campo,E. and Lopez-Otin,C. TITLE POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia JOURNAL Nat. Genet. 45 (5), 526-530 (2013) PUBMED 23502782 REMARK GeneRIF: POT1 mutations cause telomere dysfunction and is associated with chronic lymphocytic leukemia. REFERENCE 2 (bases 1 to 4095) AUTHORS Miller,A.S., Balakrishnan,L., Buncher,N.A., Opresko,P.L. and Bambara,R.A. TITLE Telomere proteins POT1, TRF1 and TRF2 augment long-patch base excision repair in vitro JOURNAL Cell Cycle 11 (5), 998-1007 (2012) PUBMED 22336916 REMARK GeneRIF: 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. REFERENCE 3 (bases 1 to 4095) AUTHORS Liu,F., Pu,X.Y., Huang,S.G., Xiang,G.M., Jiang,D.N., Hou,G. and Huang,D.N. TITLE 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 JOURNAL Asian Pac. J. Cancer Prev. 13 (11), 5659-5663 (2012) PUBMED 23317234 REMARK GeneRIF: Gene variation of pot1 Exon14 is associated with endometrial cancer REFERENCE 4 (bases 1 to 4095) AUTHORS Wan,S.M., Tie,J., Zhang,Y.F., Guo,J., Yang,L.Q., Wang,J., Xia,S.H., Yang,S.M., Wang,R.Q. and Fang,D.C. TITLE 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 JOURNAL J. Clin. Pathol. 64 (12), 1051-1057 (2011) PUBMED 21778296 REMARK GeneRIF: The effects of hPOT1 RNAi seem to be functionally linked to up-regulation of PinX1 and down-regulation of hTERT. REFERENCE 5 (bases 1 to 4095) AUTHORS Hockemeyer,D., Sfeir,A.J., Shay,J.W., Wright,W.E. and de Lange,T. TITLE POT1 protects telomeres from a transient DNA damage response and determines how human chromosomes end JOURNAL EMBO J. 24 (14), 2667-2678 (2005) PUBMED 15973431 REMARK GeneRIF: determines the structure of the 3' and 5' ends of human chromosomes REFERENCE 6 (bases 1 to 4095) AUTHORS Loayza,D., Parsons,H., Donigian,J., Hoke,K. and de Lange,T. TITLE DNA binding features of human POT1: a nonamer 5'-TAGGGTTAG-3' minimal binding site, sequence specificity, and internal binding to multimeric sites JOURNAL J. Biol. Chem. 279 (13), 13241-13248 (2004) PUBMED 14715659 REMARK GeneRIF: 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 REFERENCE 7 (bases 1 to 4095) AUTHORS Loayza,D. and De Lange,T. TITLE POT1 as a terminal transducer of TRF1 telomere length control JOURNAL Nature 423 (6943), 1013-1018 (2003) PUBMED 12768206 REMARK GeneRIF: 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 REFERENCE 8 (bases 1 to 4095) AUTHORS Colgin,L.M., Baran,K., Baumann,P., Cech,T.R. and Reddel,R.R. TITLE Human POT1 facilitates telomere elongation by telomerase JOURNAL Curr. Biol. 13 (11), 942-946 (2003) PUBMED 12781132 REMARK GeneRIF: hPOT1 can act as a telomerase-dependent, positive regulator of telomere length REFERENCE 9 (bases 1 to 4095) AUTHORS Baumann,P., Podell,E. and Cech,T.R. TITLE Human Pot1 (protection of telomeres) protein: cytolocalization, gene structure, and alternative splicing JOURNAL Mol. Cell. Biol. 22 (22), 8079-8087 (2002) PUBMED 12391173 REMARK GeneRIF: 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. REFERENCE 10 (bases 1 to 4095) AUTHORS Baumann,P. and Cech,T.R. TITLE Pot1, the putative telomere end-binding protein in fission yeast and humans JOURNAL Science 292 (5519), 1171-1175 (2001) PUBMED 11349150 REMARK Erratum:[Science 2001 Jul 13;293(5528):214] COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA412639.1, DA580630.1, AK022580.1, AL050120.1 and BM693856.1. This sequence is a reference standard in the RefSeqGene project. On May 19, 2006 this sequence version replaced gi:13123773. Summary: 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. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (1) encodes the longer isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK022580.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025088 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-6 DA412639.1 1-6 7-163 DA580630.1 1-157 164-2546 AK022580.1 1-2383 2547-3917 AL050120.1 452-1822 3918-4095 BM693856.1 1-178 c FEATURES Location/Qualifiers source 1..4095 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="7" /map="7q31.33" gene 1..4095 /gene="POT1" /gene_synonym="HPOT1" /note="protection of telomeres 1" /db_xref="GeneID:25913" /db_xref="HGNC:17284" /db_xref="MIM:606478" exon 1..190 /gene="POT1" /gene_synonym="HPOT1" /inference="alignment:Splign:1.39.8" exon 191..375 /gene="POT1" /gene_synonym="HPOT1" /inference="alignment:Splign:1.39.8" exon 376..448 /gene="POT1" /gene_synonym="HPOT1" /inference="alignment:Splign:1.39.8" misc_feature 401..403 /gene="POT1" /gene_synonym="HPOT1" /note="upstream in-frame stop codon" exon 449..562 /gene="POT1" /gene_synonym="HPOT1" /inference="alignment:Splign:1.39.8" exon 563..610 /gene="POT1" /gene_synonym="HPOT1" /inference="alignment:Splign:1.39.8" CDS 602..2506 /gene="POT1" /gene_synonym="HPOT1" /note="isoform 1 is encoded by transcript variant 1; POT1-like telomere end-binding protein; protection of telomeres 1 homolog" /codon_start=1 /product="protection of telomeres protein 1 isoform 1" /protein_id="NP_056265.2" /db_xref="GI:98991776" /db_xref="CCDS:CCDS5793.1" /db_xref="GeneID:25913" /db_xref="HGNC:17284" /db_xref="MIM:606478" /translation="
MSLVPATNYIYTPLNQLKGGTIVNVYGVVKFFKPPYLSKGTDYCSVVTIVDQTNVKLTCLLFSGNYEALPIIYKNGDIVRFHRLKIQVYKKETQGITSSGFASLTFEGTLGAPIIPRTSSKYFNFTTEDHKMVEALRVWASTHMSPSWTLLKLCDVQPMQYFDLTCQLLGKAEVDGASFLLKVWDGTRTPFPSWRVLIQDLVLEGDLSHIHRLQNLTIDILVYDNHVHVARSLKVGSFLRIYSLHTKLQSMNSENQTMLSLEFHLHGGTSYGRGIRVLPESNSDVDQLKKDLESANLTANQHSDVICQSEPDDSFPSSGSVSLYEVERCQQLSATILTDHQYLERTPLCAILKQKAPQQYRIRAKLRSYKPRRLFQSVKLHCPKCHLLQEVPHEGDLDIIFQDGATKTPDVKLQNTSLYDSKIWTTKNQKGRKVAVHFVKNNGILPLSNECLLLIEGGTLSEICKLSNKFNSVIPVRSGHEDLELLDLSAPFLIQGTIHHYGCKQCSSLRSIQNLNSLVDKTSWIPSSVAEALGIVPLQYVFVMTFTLDDGTGVLEAYLMDSDKFFQIPASEVLMDDDLQKSVDMIMDMFCPPGIKIDAYPWLECFIKSYNVTNGTDNQICYQIFDTTVAEDVI
" misc_feature 626..1024 /gene="POT1" /gene_synonym="HPOT1" /note="hPOT1_OB1_like: A subfamily of OB folds similar to the first OB fold (OB1) of human protection of telomeres 1 protein (hPOT1), the single OB fold of the N-terminal domain of Schizosaccharomyces pombe POT1 (SpPOT1), and the first OB fold of the N-terminal...; Region: hPOT1_OB1_like; cd04497" /db_xref="CDD:72969" misc_feature order(671..673,833..835,839..841,845..847,911..913) /gene="POT1" /gene_synonym="HPOT1" /note="generic binding surface II; other site" /db_xref="CDD:72969" misc_feature order(692..703,707..709,743..745,809..811,815..817, 821..826,926..928) /gene="POT1" /gene_synonym="HPOT1" /note="OB1/OB2 interface [polypeptide binding]; other site" /db_xref="CDD:72969" misc_feature order(698..700,707..709,713..715,725..727,743..745, 779..781,785..787,791..793,860..862,866..868,881..883) /gene="POT1" /gene_synonym="HPOT1" /note="ssDNA binding site [nucleotide binding]; other site" /db_xref="CDD:72969" misc_feature 698..745 /gene="POT1" /gene_synonym="HPOT1" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9NUX5.1); Region: DNA binding" misc_feature 1082..1435 /gene="POT1" /gene_synonym="HPOT1" /note="hPOT1_OB2: A subfamily of OB folds similar to the second OB fold (OB2) of human protection of telomeres 1 protein (hPOT1). POT1 proteins bind to the single-stranded (ss) 3-prime ends of the telomere. hPOT1 binds specifically to ss telomeric DNA repeats...; Region: hPOT1_OB2; cd04498" /db_xref="CDD:72970" misc_feature order(1082..1084,1268..1273,1328..1330,1334..1336, 1397..1402,1409..1414,1418..1420) /gene="POT1" /gene_synonym="HPOT1" /note="ssDNA binding [nucleotide binding]; other site" /db_xref="CDD:72970" misc_feature order(1319..1321,1325..1327,1406..1408,1415..1417, 1427..1429) /gene="POT1" /gene_synonym="HPOT1" /note="binding surface II" /db_xref="CDD:72970" misc_feature 1328..1330 /gene="POT1" /gene_synonym="HPOT1" /experiment="experimental evidence, no additional details recorded" /note="DNA binding; propagated from UniProtKB/Swiss-Prot (Q9NUX5.1)" misc_feature 1409..1420 /gene="POT1" /gene_synonym="HPOT1" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9NUX5.1); Region: DNA binding" exon 611..725 /gene="POT1" /gene_synonym="HPOT1" /inference="alignment:Splign:1.39.8" exon 726..856 /gene="POT1" /gene_synonym="HPOT1" /inference="alignment:Splign:1.39.8" exon 857..1147 /gene="POT1" /gene_synonym="HPOT1" /inference="alignment:Splign:1.39.8" exon 1148..1303 /gene="POT1" /gene_synonym="HPOT1" /inference="alignment:Splign:1.39.8" exon 1304..1470 /gene="POT1" /gene_synonym="HPOT1" /inference="alignment:Splign:1.39.8" exon 1471..1550 /gene="POT1" /gene_synonym="HPOT1" /inference="alignment:Splign:1.39.8" variation 1525 /gene="POT1" /gene_synonym="HPOT1" /replace="a" /replace="g" /db_xref="dbSNP:34398311" variation 1537 /gene="POT1" /gene_synonym="HPOT1" /replace="c" /replace="t" /db_xref="dbSNP:35051558" exon 1551..1607 /gene="POT1" /gene_synonym="HPOT1" /inference="alignment:Splign:1.39.8" exon 1608..1764 /gene="POT1" /gene_synonym="HPOT1" /inference="alignment:Splign:1.39.8" exon 1765..1970 /gene="POT1" /gene_synonym="HPOT1" /inference="alignment:Splign:1.39.8" exon 1971..2106 /gene="POT1" /gene_synonym="HPOT1" /inference="alignment:Splign:1.39.8" exon 2107..2195 /gene="POT1" /gene_synonym="HPOT1" /inference="alignment:Splign:1.39.8" variation 2186 /gene="POT1" /gene_synonym="HPOT1" /replace="a" /replace="g" /db_xref="dbSNP:34973253" exon 2196..2287 /gene="POT1" /gene_synonym="HPOT1" /inference="alignment:Splign:1.39.8" exon 2288..2393 /gene="POT1" /gene_synonym="HPOT1" /inference="alignment:Splign:1.39.8" exon 2394..4082 /gene="POT1" /gene_synonym="HPOT1" /inference="alignment:Splign:1.39.8" STS 2424..3230 /gene="POT1" /gene_synonym="HPOT1" /standard_name="POT1_1702" /db_xref="UniSTS:277595" STS 2792..2941 /gene="POT1" /gene_synonym="HPOT1" /standard_name="WI-16165" /db_xref="UniSTS:18870" STS 2981..3174 /gene="POT1" /gene_synonym="HPOT1" /standard_name="WI-22258" /db_xref="UniSTS:30417" polyA_signal 3191..3196 /gene="POT1" /gene_synonym="HPOT1" polyA_site 3214 /gene="POT1" /gene_synonym="HPOT1" polyA_signal 4060..4065 /gene="POT1" /gene_synonym="HPOT1" polyA_site 4082 /gene="POT1" /gene_synonym="HPOT1" ORIGIN
gtcagtatttcgccaaacctccaggcgccatcagtgtgtgaaccgttacgcagctggtccaccgcgggcggagaacaagcgactatgcccagggatcctgcacgcatgcgtggagctgaaccgtcagcgtgcgtgtgacgtcacctgcgcgcccgcctaaactcttcctagggttctttctagagtacggcagcaagttgtcagattccctagttgaatttgctttggacatcagtgtgaagcagaactgatatgccacttgaattaataaaggaagtcaatggggtgcctgaagttcagccgctgagtaaattacataaagtagatttcggatccctacagccaggttacaattatagcaagaaatatattcagggaaaactttcacttatctcttctttaacttatcgtggaaataaaacagctgttttgcagattggactacaaggacaccattgcagtggctagatttattgtttttttagcttcttcatctacaagcagagatggtaaaccttgcatatttttgaaagcatttgaagacctcaaatcaactgtttatgtttatgtcaaatctttaagagatttttctacagaatcaatgtctttggttccagcaacaaattatatatatacacccctgaatcaacttaagggtggtacaattgtcaatgtctatggtgttgtgaagttctttaagcccccatatctaagcaaaggaactgattattgctcagttgtaactattgtggaccagacaaatgtaaaactaacttgcctgctctttagtggaaactatgaagcccttccaataatttataaaaatggagatattgttcgctttcacaggctgaagattcaagtatataaaaaggagactcagggtatcaccagctctggctttgcatctttgacgtttgagggaactttgggagcccctatcatacctcgcacttcaagcaagtattttaacttcactactgaggaccacaaaatggtagaagccttacgtgtttgggcatctactcatatgtcaccgtcttggacattactaaaattgtgtgatgttcagccaatgcagtattttgacctgacttgtcagctcttgggcaaagcagaagtggacggagcatcatttcttctaaaggtatgggatggcaccaggacaccatttccatcttggagagtcttaatacaagaccttgttcttgaaggtgatttaagtcacatccatcggctacaaaatctgacaatagacattttagtctacgataaccatgttcatgtggcaagatctctgaaggttggaagctttcttagaatctatagccttcataccaaacttcaatcaatgaattcagagaatcagacaatgttaagtttagagtttcatcttcatggaggtaccagttacggtcggggaatcagggtcttgccagaaagtaactctgatgtggatcaactgaaaaaggatttagaatctgcaaatttgacagccaatcagcattcagatgttatctgtcaatcagaacctgacgacagctttccaagctctggatcagtatcattatacgaggtagaaagatgtcaacagctatctgctacaatacttacagatcatcagtatttggagaggacaccactatgtgccattttgaaacaaaaagctcctcaacaataccgcatccgagcaaaattgaggtcatataagcccagaagactatttcagtctgttaaacttcattgccctaaatgtcatttgctgcaagaagttccacatgagggcgatttggatataatttttcaggatggtgcaactaaaaccccagatgtcaagctacaaaatacatcattatatgattcaaaaatctggaccactaaaaatcaaaaaggacgaaaagtagcagttcattttgtgaaaaataatggtattctcccgctttcaaatgaatgtctacttttgatagaaggaggtacactcagtgaaatttgcaaactctcgaacaagtttaatagtgtaattcctgtgagatctggccacgaagacctggaacttttggacctttcagcaccatttcttatacaaggaacaatacatcactatggatgtaaacagtgttctagtttgagatccatacaaaatctaaattccctggttgataaaacatcgtggattccttcttctgtggcagaagcactgggtattgtacccctccaatatgtgtttgttatgacctttacacttgatgatggaacaggagtactagaagcctatctcatggattctgacaaattcttccagattccagcatcagaagttctgatggatgatgaccttcagaaaagtgtggatatgatcatggatatgttttgtcctccaggaataaaaattgatgcatatccgtggttggaatgcttcatcaagtcatacaatgtcacaaatggaacagataatcaaatttgctatcagatttttgacaccacagttgcagaagatgtaatctaatattgccatccaatttagcatacataaaatgttgccactcaccttccctgtttgagcttcttttcctgacctgagttttgtatcagcaatgttgatgatgttagcatgggtatgggattagaaaatgtccttaccttaaatctcttggcttttactgggtgcaaggtaaataatggctatggattttgttttgctttctgttttgcttttgtacaaagagacctgcttaaacaagtactgctgagataagtgtctgatcaagctacagtgtactttaagtagaaatggcaaagttgctttgttggggtgctgatactgatgattttaggataaattcatttctttaaacttgtaatacatggttttattgcttgtttctctccaggatagtagagatttctctatttcacctcaacctaataaaagtggtcagatttataatgttaatgacttaatattatccttttctaatagtctcatgtaaaatatgccgctattacaacttacaactaattgaatgagatgttaacttagtaaaatagtttgatttttacctgacagtgtttgtcaaatttaaaatcatgaatattcaattttatacaaacatttatatatatatatatagatttgtgtatgttatttgccaaagacagatataaattacctggtttaatattagtgaagaataaataagtgcacacatttcaactgtttcatttatttgccctaagttgagctgaaaaatgatatgaggcaaagaatcgaaataggtgtggcaatgcagcagatgtttagggctgtctacatcccaggtactgtgctaagcactaaacatgtatttgatcctcacagcaacctatttttccgataagaaatctgaggcttgattgataagctgacttgactaagttcacacagtttgtaaaagctagagtctgtgccttaattcacataatctctattcagagcctgtactgttaaccactcaaggattctggaacagaagctaacagttttctgcaacgagtctttgacttaaacatctgaaataacattggaaatagattataagaggagtcagtgtgtttttctatagtttcaaaatacttttaacatcttattgtcaaaaagattggataactgactttctttgctcataataactctaaattctagttcctgagtacattaacacatcttctttacctaactaccaatgtcccccatcatcgacttatcagcttgtttgagacaatgagaaagactgattttattttcaagaatatagactcttggttcaaaacattttcaggaaaaatattttaaaaccctacagttgaacaggtgtgtttccgtgttgatgatgtgctcaggatacaaaggtgaaataaacattttttctgccttcaggaagccctcaatctagaagagtagaggtccaaaggtgccatatgttcacactgtgagcctgcaagatctccacgttaacaaaggaaaactcttcctatgaatcttcatgatgataggccatgtctcttcttatttttgttttaaataaacatccaccttatcatgaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:25913 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:25913 -> Molecular function: GO:0010521 [telomerase inhibitor activity] evidence: IDA GeneID:25913 -> Molecular function: GO:0017151 [DEAD/H-box RNA helicase binding] evidence: IPI GeneID:25913 -> Molecular function: GO:0043047 [single-stranded telomeric DNA binding] evidence: IDA GeneID:25913 -> Molecular function: GO:0043047 [single-stranded telomeric DNA binding] evidence: IMP GeneID:25913 -> Biological process: GO:0000723 [telomere maintenance] evidence: TAS GeneID:25913 -> Biological process: GO:0007004 [telomere maintenance via telomerase] evidence: IDA GeneID:25913 -> Biological process: GO:0016233 [telomere capping] evidence: IGI GeneID:25913 -> Biological process: GO:0016233 [telomere capping] evidence: IMP GeneID:25913 -> Biological process: GO:0032203 [telomere formation via telomerase] evidence: IDA GeneID:25913 -> Biological process: GO:0032211 [negative regulation of telomere maintenance via telomerase] evidence: IMP GeneID:25913 -> Biological process: GO:0032212 [positive regulation of telomere maintenance via telomerase] evidence: IMP GeneID:25913 -> Biological process: GO:0032508 [DNA duplex unwinding] evidence: IDA GeneID:25913 -> Biological process: GO:0051096 [positive regulation of helicase activity] evidence: IDA GeneID:25913 -> Biological process: GO:0051973 [positive regulation of telomerase activity] evidence: IDA GeneID:25913 -> Biological process: GO:0051974 [negative regulation of telomerase activity] evidence: IDA GeneID:25913 -> Biological process: GO:0060383 [positive regulation of DNA strand elongation] evidence: IDA GeneID:25913 -> Cellular component: GO:0000781 [chromosome, telomeric region] evidence: IDA GeneID:25913 -> Cellular component: GO:0000783 [nuclear telomere cap complex] evidence: IDA GeneID:25913 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS
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