GGRNA Home | Help | Advanced search

2024-03-28 18:26:14, GGRNA : RefSeq release 60 (20130726)

LOCUS       NR_003103               4006 bp    RNA     linear   PRI 16-JUL-2013
DEFINITION  Homo sapiens protection of telomeres 1 (POT1), transcript variant
            3, non-coding RNA.
ACCESSION   NR_003103
VERSION     NR_003103.1  GI:110671312
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 4006)
  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 4006)
  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 4006)
  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 4006)
  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 4006)
  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 4006)
  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 4006)
  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 4006)
  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 4006)
  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 4006)
  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, DA707481.1,
            AK022580.1, AY823522.1, AL050120.1 and BM693856.1.
            
            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 (3) lacks an alternate exon in the
            coding region that results in a frameshift and early stop codon,
            compared to variant 1. A CDS is not annotated because the
            transcript is a nonsense-mediated mRNA decay (NMD) candidate.
            
            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.
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 DA412639.1         1-7
            8-163               DA707481.1         4-159
            164-590             AK022580.1         1-427
            591-2417            AY823522.1         1-1827
            2418-3992           AL050120.1         412-1986
            3993-4006           BM693856.1         1-14                c
FEATURES             Location/Qualifiers
     source          1..4006
                     /organism="Homo sapiens"
                     /mol_type="transcribed RNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q31.33"
     gene            1..4006
                     /gene="POT1"
                     /gene_synonym="HPOT1"
                     /note="protection of telomeres 1"
                     /db_xref="GeneID:25913"
                     /db_xref="HGNC:17284"
                     /db_xref="MIM:606478"
     misc_RNA        1..4006
                     /gene="POT1"
                     /gene_synonym="HPOT1"
                     /product="protection of telomeres 1, transcript variant 3"
                     /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"
     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"
     misc_feature    602..2158
                     /gene="POT1"
                     /gene_synonym="HPOT1"
                     /note="putative truncated open reading frame"
     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"
     misc_feature    995..2158
                     /gene="POT1"
                     /gene_synonym="HPOT1"
                     /inference="COORDINATES:
                     alignment:Blast2seq::RefSeq|NM_001042594.1"
                     /note="primary ORF has stop codon >50 nucleotides from the
                     terminal splice site; nonsense-mediated decay (NMD)
                     candidate"
     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..2198
                     /gene="POT1"
                     /gene_synonym="HPOT1"
                     /inference="alignment:Splign:1.39.8"
     exon            2199..2304
                     /gene="POT1"
                     /gene_synonym="HPOT1"
                     /inference="alignment:Splign:1.39.8"
     exon            2305..3993
                     /gene="POT1"
                     /gene_synonym="HPOT1"
                     /inference="alignment:Splign:1.39.8"
     polyA_signal    3102..3107
                     /gene="POT1"
                     /gene_synonym="HPOT1"
     polyA_site      3125
                     /gene="POT1"
                     /gene_synonym="HPOT1"
     polyA_signal    3971..3976
                     /gene="POT1"
                     /gene_synonym="HPOT1"
     polyA_site      3993
                     /gene="POT1"
                     /gene_synonym="HPOT1"
ORIGIN      


gtcagtatttcgccaaacctccaggcgccatcagtgtgtgaaccgttacgcagctggtccaccgcgggcggagaacaagcgactatgcccagggatcctgcacgcatgcgtggagctgaaccgtcagcgtgcgtgtgacgtcacctgcgcgcccgcctaaactcttcctagggttctttctagagtacggcagcaagttgtcagattccctagttgaatttgctttggacatcagtgtgaagcagaactgatatgccacttgaattaataaaggaagtcaatggggtgcctgaagttcagccgctgagtaaattacataaagtagatttcggatccctacagccaggttacaattatagcaagaaatatattcagggaaaactttcacttatctcttctttaacttatcgtggaaataaaacagctgttttgcagattggactacaaggacaccattgcagtggctagatttattgtttttttagcttcttcatctacaagcagagatggtaaaccttgcatatttttgaaagcatttgaagacctcaaatcaactgtttatgtttatgtcaaatctttaagagatttttctacagaatcaatgtctttggttccagcaacaaattatatatatacacccctgaatcaacttaagggtggtacaattgtcaatgtctatggtgttgtgaagttctttaagcccccatatctaagcaaaggaactgattattgctcagttgtaactattgtggaccagacaaatgtaaaactaacttgcctgctctttagtggaaactatgaagcccttccaataatttataaaaatggagatattgttcgctttcacaggctgaagattcaagtatataaaaaggagactcagggtatcaccagctctggctttgcatctttgacgtttgagggaactttgggagcccctatcatacctcgcacttcaagcaagtattttaacttcactactgaggaccacaaaatggtagaagccttacgtgtttgggcatctactcatatgtcaccgtcttggacattactaaaattgtgtgatgttcagccaatgcagtattttgacctgacttgtcagctcttgggcaaagcagaagtggacggagcatcatttcttctaaaggtatgggatggcaccaggacaccatttccatcttggagagtcttaatacaagaccttgttcttgaaggtgatttaagtcacatccatcggctacaaaatctgacaatagacattttagtctacgataaccatgttcatgtggcaagatctctgaaggttggaagctttcttagaatctatagccttcataccaaacttcaatcaatgaattcagagaatcagacaatgttaagtttagagtttcatcttcatggaggtaccagttacggtcggggaatcagggtcttgccagaaagtaactctgatgtggatcaactgaaaaaggatttagaatctgcaaatttgacagccaatcagcattcagatgttatctgtcaatcagaacctgacgacagctttccaagctctggatcagtatcattatacgaggtagaaagatgtcaacagctatctgctacaatacttacagatcatcagtatttggagaggacaccactatgtgccattttgaaacaaaaagctcctcaacaataccgcatccgagcaaaattgaggtcatataagcccagaagactatttcagtctgttaaacttcattgccctaaatgtcatttgctgcaagaagttccacatgagggcgatttggatataatttttcaggatggtgcaactaaaaccccagatgtcaagctacaaaatacatcattatatgattcaaaaatctggaccactaaaaatcaaaaaggacgaaaagtagcagttcattttgtgaaaaataatggtattctcccgctttcaaatgaatgtctacttttgatagaaggaggtacactcagtgaaatttgcaaactctcgaacaagtttaatagtgtaattcctgtgagatctggccacgaagacctggaacttttggacctttcagcaccatttcttatacaaggaacaatacatcactatggcactgggtattgtacccctccaatatgtgtttgttatgacctttacacttgatgatggaacaggagtactagaagcctatctcatggattctgacaaattcttccagattccagcatcagaagttctgatggatgatgaccttcagaaaagtgtggatatgatcatggatatgttttgtcctccaggaataaaaattgatgcatatccgtggttggaatgcttcatcaagtcatacaatgtcacaaatggaacagataatcaaatttgctatcagatttttgacaccacagttgcagaagatgtaatctaatattgccatccaatttagcatacataaaatgttgccactcaccttccctgtttgagcttcttttcctgacctgagttttgtatcagcaatgttgatgatgttagcatgggtatgggattagaaaatgtccttaccttaaatctcttggcttttactgggtgcaaggtaaataatggctatggattttgttttgctttctgttttgcttttgtacaaagagacctgcttaaacaagtactgctgagataagtgtctgatcaagctacagtgtactttaagtagaaatggcaaagttgctttgttggggtgctgatactgatgattttaggataaattcatttctttaaacttgtaatacatggttttattgcttgtttctctccaggatagtagagatttctctatttcacctcaacctaataaaagtggtcagatttataatgttaatgacttaatattatccttttctaatagtctcatgtaaaatatgccgctattacaacttacaactaattgaatgagatgttaacttagtaaaatagtttgatttttacctgacagtgtttgtcaaatttaaaatcatgaatattcaattttatacaaacatttatatatatatatatagatttgtgtatgttatttgccaaagacagatataaattacctggtttaatattagtgaagaataaataagtgcacacatttcaactgtttcatttatttgccctaagttgagctgaaaaatgatatgaggcaaagaatcgaaataggtgtggcaatgcagcagatgtttagggctgtctacatcccaggtactgtgctaagcactaaacatgtatttgatcctcacagcaacctatttttccgataagaaatctgaggcttgattgataagctgacttgactaagttcacacagtttgtaaaagctagagtctgtgccttaattcacataatctctattcagagcctgtactgttaaccactcaaggattctggaacagaagctaacagttttctgcaacgagtctttgacttaaacatctgaaataacattggaaatagattataagaggagtcagtgtgtttttctatagtttcaaaatacttttaacatcttattgtcaaaaagattggataactgactttctttgctcataataactctaaattctagttcctgagtacattaacacatcttctttacctaactaccaatgtcccccatcatcgacttatcagcttgtttgagacaatgagaaagactgattttattttcaagaatatagactcttggttcaaaacattttcaggaaaaatattttaaaaccctacagttgaacaggtgtgtttccgtgttgatgatgtgctcaggatacaaaggtgaaataaacattttttctgccttcaggaagccctcaatctagaagagtagaggtccaaaggtgccatatgttcacactgtgagcctgcaagatctccacgttaacaaaggaaaactcttcctatgaatcttcatgatgataggccatgtctcttcttatttttgttttaaataaacatccaccttatcatgaaaaaaaaaaaaaa
//

Annotations:

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

by @meso_cacase at DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.