LOCUS       NM_015450               3924 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens protection of telomeres 1 (POT1), transcript variant
            1, mRNA.
ACCESSION   NM_015450
VERSION     NM_015450.3
KEYWORDS    RefSeq; MANE Select.
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 3924)
  AUTHORS   Maas,E.J., DeBortoli,E., Nathan,V., Freeman,N.P., Mothershaw,A.,
            Smit,D.J., Betz-Stablein,B., Aoude,L.G., Stark,M.S., Sturm,R.A.,
            Soyer,H.P. and McInerney-Leo,A.M.
  TITLE     POT1 and multiple primary melanomas: the dermatological phenotype
  JOURNAL   J Med Genet 61 (9), 891-894 (2024)
   PUBMED   38724174
  REMARK    GeneRIF: POT1 and multiple primary melanomas: the dermatological
            phenotype.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3924)
  AUTHORS   Baptista Freitas,M., Desmyter,L., Badoer,C., Smits,G.,
            Vandernoot,I. and T Kint de Roodenbeke,D.
  TITLE     POT1 tumour predisposition: a broader spectrum of associated
            malignancies and proposal for additional screening program
  JOURNAL   Eur J Hum Genet 32 (8), 980-986 (2024)
   PUBMED   38839987
  REMARK    GeneRIF: POT1 tumour predisposition: a broader spectrum of
            associated malignancies and proposal for additional screening
            program.
REFERENCE   3  (bases 1 to 3924)
  AUTHORS   Cai,S.W., Takai,H., Zaug,A.J., Dilgen,T.C., Cech,T.R., Walz,T. and
            de Lange,T.
  TITLE     POT1 recruits and regulates CST-Polalpha/primase at human telomeres
  JOURNAL   Cell 187 (14), 3638-3651 (2024)
   PUBMED   38838667
  REMARK    GeneRIF: POT1 recruits and regulates CST-Polalpha/primase at human
            telomeres.
REFERENCE   4  (bases 1 to 3924)
  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   5  (bases 1 to 3924)
  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   6  (bases 1 to 3924)
  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   7  (bases 1 to 3924)
  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   8  (bases 1 to 3924)
  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]
REFERENCE   9  (bases 1 to 3924)
  AUTHORS   Henry,M.L., Osborne,J. and Else,T.
  TITLE     POT1 Tumor Predisposition
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   33119245
REFERENCE   10 (bases 1 to 3924)
  AUTHORS   Savage,S.A. and Niewisch,M.R.
  TITLE     Dyskeratosis Congenita and Related Telomere Biology Disorders
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301779
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA580630.1, AK022580.1,
            AL050120.1 and BM693856.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_015450.2.
            
            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 :: SRR14038197.430493.1,
                                           SRR14038192.2091156.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000357628.8/ ENSP00000350249.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 DA580630.1         153-157
            6-2388              AK022580.1         1-2383
            2389-3759           AL050120.1         452-1822
            3760-3924           BM693856.1         14-178              c
FEATURES             Location/Qualifiers
     source          1..3924
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q31.33"
     gene            1..3924
                     /gene="POT1"
                     /gene_synonym="CMM10; CRMCC3; GLM9; HPOT1; PFBMFT8; TPDS3"
                     /note="protection of telomeres 1"
                     /db_xref="GeneID:25913"
                     /db_xref="HGNC:HGNC:17284"
                     /db_xref="MIM:606478"
     exon            1..32
                     /gene="POT1"
                     /gene_synonym="CMM10; CRMCC3; GLM9; HPOT1; PFBMFT8; TPDS3"
                     /inference="alignment:Splign:2.1.0"
     exon            33..217
                     /gene="POT1"
                     /gene_synonym="CMM10; CRMCC3; GLM9; HPOT1; PFBMFT8; TPDS3"
                     /inference="alignment:Splign:2.1.0"
     exon            218..290
                     /gene="POT1"
                     /gene_synonym="CMM10; CRMCC3; GLM9; HPOT1; PFBMFT8; TPDS3"
                     /inference="alignment:Splign:2.1.0"
     exon            291..404
                     /gene="POT1"
                     /gene_synonym="CMM10; CRMCC3; GLM9; HPOT1; PFBMFT8; TPDS3"
                     /inference="alignment:Splign:2.1.0"
     exon            405..452
                     /gene="POT1"
                     /gene_synonym="CMM10; CRMCC3; GLM9; HPOT1; PFBMFT8; TPDS3"
                     /inference="alignment:Splign:2.1.0"
     CDS             444..2348
                     /gene="POT1"
                     /gene_synonym="CMM10; CRMCC3; GLM9; HPOT1; PFBMFT8; TPDS3"
                     /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="CCDS:CCDS5793.1"
                     /db_xref="GeneID:25913"
                     /db_xref="HGNC:HGNC:17284"
                     /db_xref="MIM:606478"
                     /translation="MSLVPATNYIYTPLNQLKGGTIVNVYGVVKFFKPPYLSKGTDYC
                     SVVTIVDQTNVKLTCLLFSGNYEALPIIYKNGDIVRFHRLKIQVYKKETQGITSSGFA
                     SLTFEGTLGAPIIPRTSSKYFNFTTEDHKMVEALRVWASTHMSPSWTLLKLCDVQPMQ
                     YFDLTCQLLGKAEVDGASFLLKVWDGTRTPFPSWRVLIQDLVLEGDLSHIHRLQNLTI
                     DILVYDNHVHVARSLKVGSFLRIYSLHTKLQSMNSENQTMLSLEFHLHGGTSYGRGIR
                     VLPESNSDVDQLKKDLESANLTANQHSDVICQSEPDDSFPSSGSVSLYEVERCQQLSA
                     TILTDHQYLERTPLCAILKQKAPQQYRIRAKLRSYKPRRLFQSVKLHCPKCHLLQEVP
                     HEGDLDIIFQDGATKTPDVKLQNTSLYDSKIWTTKNQKGRKVAVHFVKNNGILPLSNE
                     CLLLIEGGTLSEICKLSNKFNSVIPVRSGHEDLELLDLSAPFLIQGTIHHYGCKQCSS
                     LRSIQNLNSLVDKTSWIPSSVAEALGIVPLQYVFVMTFTLDDGTGVLEAYLMDSDKFF
                     QIPASEVLMDDDLQKSVDMIMDMFCPPGIKIDAYPWLECFIKSYNVTNGTDNQICYQI
                     FDTTVAEDVI"
     exon            453..567
                     /gene="POT1"
                     /gene_synonym="CMM10; CRMCC3; GLM9; HPOT1; PFBMFT8; TPDS3"
                     /inference="alignment:Splign:2.1.0"
     exon            568..698
                     /gene="POT1"
                     /gene_synonym="CMM10; CRMCC3; GLM9; HPOT1; PFBMFT8; TPDS3"
                     /inference="alignment:Splign:2.1.0"
     exon            699..989
                     /gene="POT1"
                     /gene_synonym="CMM10; CRMCC3; GLM9; HPOT1; PFBMFT8; TPDS3"
                     /inference="alignment:Splign:2.1.0"
     exon            990..1145
                     /gene="POT1"
                     /gene_synonym="CMM10; CRMCC3; GLM9; HPOT1; PFBMFT8; TPDS3"
                     /inference="alignment:Splign:2.1.0"
     exon            1146..1312
                     /gene="POT1"
                     /gene_synonym="CMM10; CRMCC3; GLM9; HPOT1; PFBMFT8; TPDS3"
                     /inference="alignment:Splign:2.1.0"
     exon            1313..1392
                     /gene="POT1"
                     /gene_synonym="CMM10; CRMCC3; GLM9; HPOT1; PFBMFT8; TPDS3"
                     /inference="alignment:Splign:2.1.0"
     exon            1393..1449
                     /gene="POT1"
                     /gene_synonym="CMM10; CRMCC3; GLM9; HPOT1; PFBMFT8; TPDS3"
                     /inference="alignment:Splign:2.1.0"
     exon            1450..1606
                     /gene="POT1"
                     /gene_synonym="CMM10; CRMCC3; GLM9; HPOT1; PFBMFT8; TPDS3"
                     /inference="alignment:Splign:2.1.0"
     exon            1607..1812
                     /gene="POT1"
                     /gene_synonym="CMM10; CRMCC3; GLM9; HPOT1; PFBMFT8; TPDS3"
                     /inference="alignment:Splign:2.1.0"
     exon            1813..1948
                     /gene="POT1"
                     /gene_synonym="CMM10; CRMCC3; GLM9; HPOT1; PFBMFT8; TPDS3"
                     /inference="alignment:Splign:2.1.0"
     exon            1949..2037
                     /gene="POT1"
                     /gene_synonym="CMM10; CRMCC3; GLM9; HPOT1; PFBMFT8; TPDS3"
                     /inference="alignment:Splign:2.1.0"
     exon            2038..2129
                     /gene="POT1"
                     /gene_synonym="CMM10; CRMCC3; GLM9; HPOT1; PFBMFT8; TPDS3"
                     /inference="alignment:Splign:2.1.0"
     exon            2130..2235
                     /gene="POT1"
                     /gene_synonym="CMM10; CRMCC3; GLM9; HPOT1; PFBMFT8; TPDS3"
                     /inference="alignment:Splign:2.1.0"
     exon            2236..3924
                     /gene="POT1"
                     /gene_synonym="CMM10; CRMCC3; GLM9; HPOT1; PFBMFT8; TPDS3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2767..2772
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POT1"
                     /gene_synonym="CMM10; CRMCC3; GLM9; HPOT1; PFBMFT8; TPDS3"
                     /note="hexamer: AATAAA"
     polyA_site      2795
                     /gene="POT1"
                     /gene_synonym="CMM10; CRMCC3; GLM9; HPOT1; PFBMFT8; TPDS3"
                     /note="major polyA site"
     regulatory      3033..3038
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POT1"
                     /gene_synonym="CMM10; CRMCC3; GLM9; HPOT1; PFBMFT8; TPDS3"
                     /note="hexamer: AATAAA"
     polyA_site      3050
                     /gene="POT1"
                     /gene_synonym="CMM10; CRMCC3; GLM9; HPOT1; PFBMFT8; TPDS3"
     regulatory      3902..3907
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POT1"
                     /gene_synonym="CMM10; CRMCC3; GLM9; HPOT1; PFBMFT8; TPDS3"
                     /note="hexamer: AATAAA"
     polyA_site      3924
                     /gene="POT1"
                     /gene_synonym="CMM10; CRMCC3; GLM9; HPOT1; PFBMFT8; TPDS3"
                     /note="major polyA site"
ORIGIN      
        1 aaactcttcc tagggttctt tctagagtac ggcagcaagt tgtcagattc cctagttgaa
       61 tttgctttgg acatcagtgt gaagcagaac tgatatgcca cttgaattaa taaaggaagt
      121 caatggggtg cctgaagttc agccgctgag taaattacat aaagtagatt tcggatccct
      181 acagccaggt tacaattata gcaagaaata tattcaggga aaactttcac ttatctcttc
      241 tttaacttat cgtggaaata aaacagctgt tttgcagatt ggactacaag gacaccattg
      301 cagtggctag atttattgtt tttttagctt cttcatctac aagcagagat ggtaaacctt
      361 gcatattttt gaaagcattt gaagacctca aatcaactgt ttatgtttat gtcaaatctt
      421 taagagattt ttctacagaa tcaatgtctt tggttccagc aacaaattat atatatacac
      481 ccctgaatca acttaagggt ggtacaattg tcaatgtcta tggtgttgtg aagttcttta
      541 agcccccata tctaagcaaa ggaactgatt attgctcagt tgtaactatt gtggaccaga
      601 caaatgtaaa actaacttgc ctgctcttta gtggaaacta tgaagccctt ccaataattt
      661 ataaaaatgg agatattgtt cgctttcaca ggctgaagat tcaagtatat aaaaaggaga
      721 ctcagggtat caccagctct ggctttgcat ctttgacgtt tgagggaact ttgggagccc
      781 ctatcatacc tcgcacttca agcaagtatt ttaacttcac tactgaggac cacaaaatgg
      841 tagaagcctt acgtgtttgg gcatctactc atatgtcacc gtcttggaca ttactaaaat
      901 tgtgtgatgt tcagccaatg cagtattttg acctgacttg tcagctcttg ggcaaagcag
      961 aagtggacgg agcatcattt cttctaaagg tatgggatgg caccaggaca ccatttccat
     1021 cttggagagt cttaatacaa gaccttgttc ttgaaggtga tttaagtcac atccatcggc
     1081 tacaaaatct gacaatagac attttagtct acgataacca tgttcatgtg gcaagatctc
     1141 tgaaggttgg aagctttctt agaatctata gccttcatac caaacttcaa tcaatgaatt
     1201 cagagaatca gacaatgtta agtttagagt ttcatcttca tggaggtacc agttacggtc
     1261 ggggaatcag ggtcttgcca gaaagtaact ctgatgtgga tcaactgaaa aaggatttag
     1321 aatctgcaaa tttgacagcc aatcagcatt cagatgttat ctgtcaatca gaacctgacg
     1381 acagctttcc aagctctgga tcagtatcat tatacgaggt agaaagatgt caacagctat
     1441 ctgctacaat acttacagat catcagtatt tggagaggac accactatgt gccattttga
     1501 aacaaaaagc tcctcaacaa taccgcatcc gagcaaaatt gaggtcatat aagcccagaa
     1561 gactatttca gtctgttaaa cttcattgcc ctaaatgtca tttgctgcaa gaagttccac
     1621 atgagggcga tttggatata atttttcagg atggtgcaac taaaacccca gatgtcaagc
     1681 tacaaaatac atcattatat gattcaaaaa tctggaccac taaaaatcaa aaaggacgaa
     1741 aagtagcagt tcattttgtg aaaaataatg gtattctccc gctttcaaat gaatgtctac
     1801 ttttgataga aggaggtaca ctcagtgaaa tttgcaaact ctcgaacaag tttaatagtg
     1861 taattcctgt gagatctggc cacgaagacc tggaactttt ggacctttca gcaccatttc
     1921 ttatacaagg aacaatacat cactatggat gtaaacagtg ttctagtttg agatccatac
     1981 aaaatctaaa ttccctggtt gataaaacat cgtggattcc ttcttctgtg gcagaagcac
     2041 tgggtattgt acccctccaa tatgtgtttg ttatgacctt tacacttgat gatggaacag
     2101 gagtactaga agcctatctc atggattctg acaaattctt ccagattcca gcatcagaag
     2161 ttctgatgga tgatgacctt cagaaaagtg tggatatgat catggatatg ttttgtcctc
     2221 caggaataaa aattgatgca tatccgtggt tggaatgctt catcaagtca tacaatgtca
     2281 caaatggaac agataatcaa atttgctatc agatttttga caccacagtt gcagaagatg
     2341 taatctaata ttgccatcca atttagcata cataaaatgt tgccactcac cttccctgtt
     2401 tgagcttctt ttcctgacct gagttttgta tcagcaatgt tgatgatgtt agcatgggta
     2461 tgggattaga aaatgtcctt accttaaatc tcttggcttt tactgggtgc aaggtaaata
     2521 atggctatgg attttgtttt gctttctgtt ttgcttttgt acaaagagac ctgcttaaac
     2581 aagtactgct gagataagtg tctgatcaag ctacagtgta ctttaagtag aaatggcaaa
     2641 gttgctttgt tggggtgctg atactgatga ttttaggata aattcatttc tttaaacttg
     2701 taatacatgg ttttattgct tgtttctctc caggatagta gagatttctc tatttcacct
     2761 caacctaata aaagtggtca gatttataat gttaatgact taatattatc cttttctaat
     2821 agtctcatgt aaaatatgcc gctattacaa cttacaacta attgaatgag atgttaactt
     2881 agtaaaatag tttgattttt acctgacagt gtttgtcaaa tttaaaatca tgaatattca
     2941 attttataca aacatttata tatatatata tagatttgtg tatgttattt gccaaagaca
     3001 gatataaatt acctggttta atattagtga agaataaata agtgcacaca tttcaactgt
     3061 ttcatttatt tgccctaagt tgagctgaaa aatgatatga ggcaaagaat cgaaataggt
     3121 gtggcaatgc agcagatgtt tagggctgtc tacatcccag gtactgtgct aagcactaaa
     3181 catgtatttg atcctcacag caacctattt ttccgataag aaatctgagg cttgattgat
     3241 aagctgactt gactaagttc acacagtttg taaaagctag agtctgtgcc ttaattcaca
     3301 taatctctat tcagagcctg tactgttaac cactcaagga ttctggaaca gaagctaaca
     3361 gttttctgca acgagtcttt gacttaaaca tctgaaataa cattggaaat agattataag
     3421 aggagtcagt gtgtttttct atagtttcaa aatactttta acatcttatt gtcaaaaaga
     3481 ttggataact gactttcttt gctcataata actctaaatt ctagttcctg agtacattaa
     3541 cacatcttct ttacctaact accaatgtcc cccatcatcg acttatcagc ttgtttgaga
     3601 caatgagaaa gactgatttt attttcaaga atatagactc ttggttcaaa acattttcag
     3661 gaaaaatatt ttaaaaccct acagttgaac aggtgtgttt ccgtgttgat gatgtgctca
     3721 ggatacaaag gtgaaataaa cattttttct gccttcagga agccctcaat ctagaagagt
     3781 agaggtccaa aggtgccata tgttcacact gtgagcctgc aagatctcca cgttaacaaa
     3841 ggaaaactct tcctatgaat cttcatgatg ataggccatg tctcttctta tttttgtttt
     3901 aaataaacat ccaccttatc atga
//
