LOCUS       NM_001193376            3850 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens telomerase reverse transcriptase (TERT), transcript
            variant 2, mRNA.
ACCESSION   NM_001193376
VERSION     NM_001193376.3
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 3850)
  AUTHORS   Karna,D., Liang,L., Sharma,G., Mandal,S., Asamitsu,S., Kawamoto,Y.,
            Hashiya,K., Bando,T., Sugiyama,H. and Mao,H.
  TITLE     Modulation of dynamic DNA G-quadruplex structures in the hTERT
            promoter region by ligands
  JOURNAL   Nucleic Acids Res 52 (18), 10775-10787 (2024)
   PUBMED   39217470
  REMARK    GeneRIF: Modulation of dynamic DNA G-quadruplex structures in the
            hTERT promoter region by ligands.
REFERENCE   2  (bases 1 to 3850)
  AUTHORS   Sergeeva,S.V., Loshchenova,P.S., Oshchepkov,D.Y. and
            Orishchenko,K.E.
  TITLE     Crosstalk between BER and NHEJ in XRCC4-Deficient Cells Depending
            on hTERT Overexpression
  JOURNAL   Int J Mol Sci 25 (19), 10405 (2024)
   PUBMED   39408734
  REMARK    GeneRIF: Crosstalk between BER and NHEJ in XRCC4-Deficient Cells
            Depending on hTERT Overexpression.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3850)
  AUTHORS   Song,Y., Xu,J., Geng,W., Yin,L., Wang,J. and Zhao,J.
  TITLE     Association and causal impact of TERT genetic variants on
            peripheral blood leukocyte telomere length and cerebral small
            vessel disease risk in a Chinese Han population: a mendelian
            randomization analysis
  JOURNAL   Orphanet J Rare Dis 19 (1), 309 (2024)
   PUBMED   39180127
  REMARK    GeneRIF: Association and causal impact of TERT genetic variants on
            peripheral blood leukocyte telomere length and cerebral small
            vessel disease risk in a Chinese Han population: a mendelian
            randomization analysis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3850)
  AUTHORS   Marczyk,V.R., Maia,A.L. and Goemann,I.M.
  TITLE     Distinct transcriptional and prognostic impacts of TERT promoter
            mutations C228T and C250T in papillary thyroid carcinoma
  JOURNAL   Endocr Relat Cancer 31 (9), e240058 (2024)
   PUBMED   38973620
  REMARK    GeneRIF: Distinct transcriptional and prognostic impacts of TERT
            promoter mutations C228T and C250T in papillary thyroid carcinoma.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3850)
  AUTHORS   Meyerson,M., Counter,C.M., Eaton,E.N., Ellisen,L.W., Steiner,P.,
            Caddle,S.D., Ziaugra,L., Beijersbergen,R.L., Davidoff,M.J., Liu,Q.,
            Bacchetti,S., Haber,D.A. and Weinberg,R.A.
  TITLE     hEST2, the putative human telomerase catalytic subunit gene, is
            up-regulated in tumor cells and during immortalization
  JOURNAL   Cell 90 (4), 785-795 (1997)
   PUBMED   9288757
REFERENCE   6  (bases 1 to 3850)
  AUTHORS   Nakamura,T.M., Morin,G.B., Chapman,K.B., Weinrich,S.L.,
            Andrews,W.H., Lingner,J., Harley,C.B. and Cech,T.R.
  TITLE     Telomerase catalytic subunit homologs from fission yeast and human
  JOURNAL   Science 277 (5328), 955-959 (1997)
   PUBMED   9252327
REFERENCE   7  (bases 1 to 3850)
  AUTHORS   Lingner,J., Hughes,T.R., Shevchenko,A., Mann,M., Lundblad,V. and
            Cech,T.R.
  TITLE     Reverse transcriptase motifs in the catalytic subunit of telomerase
  JOURNAL   Science 276 (5312), 561-567 (1997)
   PUBMED   9110970
REFERENCE   8  (bases 1 to 3850)
  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
REFERENCE   9  (bases 1 to 3850)
  AUTHORS   Garcia,C.K. and Talbert,J.L.
  TITLE     Pulmonary Fibrosis Predisposition Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301408
REFERENCE   10 (bases 1 to 3850)
  AUTHORS   Morin,G.B.
  TITLE     The human telomere terminal transferase enzyme is a
            ribonucleoprotein that synthesizes TTAGGG repeats
  JOURNAL   Cell 59 (3), 521-529 (1989)
   PUBMED   2805070
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC114291.2, AB085628.1 and
            AF015950.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001193376.2.
            
            Summary: Telomerase is a ribonucleoprotein polymerase that
            maintains telomere ends by addition of the telomere repeat TTAGGG.
            The enzyme consists of a protein component with reverse
            transcriptase activity, encoded by this gene, and an RNA component
            which serves as a template for the telomere repeat. Telomerase
            expression plays a role in cellular senescence, as it is normally
            repressed in postnatal somatic cells resulting in progressive
            shortening of telomeres. Deregulation of telomerase expression in
            somatic cells may be involved in oncogenesis. Studies in mouse
            suggest that telomerase also participates in chromosomal repair,
            since de novo synthesis of telomere repeats may occur at
            double-stranded breaks. Alternatively spliced variants encoding
            different isoforms of telomerase reverse transcriptase have been
            identified; the full-length sequence of some variants has not been
            determined. Alternative splicing at this locus is thought to be one
            mechanism of regulation of telomerase activity. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the middle portion of the coding region, compared to
            variant 1. This results in a shorter protein (isoform 2), compared
            to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AB085628.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1968968 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-79                AC114291.2         178997-179075       c
            80-3289             AB085628.1         1-3210
            3290-3850           AF015950.1         3455-4015
FEATURES             Location/Qualifiers
     source          1..3850
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.33"
     gene            1..3850
                     /gene="TERT"
                     /gene_synonym="CMM9; DKCA2; DKCB4; EST2; hEST2; hTRT;
                     PFBMFT1; TCS1; TP2; TRT"
                     /note="telomerase reverse transcriptase"
                     /db_xref="GeneID:7015"
                     /db_xref="HGNC:HGNC:11730"
                     /db_xref="MIM:187270"
     exon            1..298
                     /gene="TERT"
                     /gene_synonym="CMM9; DKCA2; DKCB4; EST2; hEST2; hTRT;
                     PFBMFT1; TCS1; TP2; TRT"
                     /inference="alignment:Splign:2.1.0"
     CDS             80..3289
                     /gene="TERT"
                     /gene_synonym="CMM9; DKCA2; DKCB4; EST2; hEST2; hTRT;
                     PFBMFT1; TCS1; TP2; TRT"
                     /EC_number="2.7.7.49"
                     /note="isoform 2 is encoded by transcript variant 2;
                     telomerase catalytic subunit; telomerase-associated
                     protein 2"
                     /codon_start=1
                     /product="telomerase reverse transcriptase isoform 2"
                     /protein_id="NP_001180305.1"
                     /db_xref="CCDS:CCDS54831.1"
                     /db_xref="GeneID:7015"
                     /db_xref="HGNC:HGNC:11730"
                     /db_xref="MIM:187270"
                     /translation="MPRAPRCRAVRSLLRSHYREVLPLATFVRRLGPQGWRLVQRGDP
                     AAFRALVAQCLVCVPWDARPPPAAPSFRQVSCLKELVARVLQRLCERGAKNVLAFGFA
                     LLDGARGGPPEAFTTSVRSYLPNTVTDALRGSGAWGLLLRRVGDDVLVHLLARCALFV
                     LVAPSCAYQVCGPPLYQLGAATQARPPPHASGPRRRLGCERAWNHSVREAGVPLGLPA
                     PGARRRGGSASRSLPLPKRPRRGAAPEPERTPVGQGSWAHPGRTRGPSDRGFCVVSPA
                     RPAEEATSLEGALSGTRHSHPSVGRQHHAGPPSTSRPPRPWDTPCPPVYAETKHFLYS
                     SGDKEQLRPSFLLSSLRPSLTGARRLVETIFLGSRPWMPGTPRRLPRLPQRYWQMRPL
                     FLELLGNHAQCPYGVLLKTHCPLRAAVTPAAGVCAREKPQGSVAAPEEEDTDPRRLVQ
                     LLRQHSSPWQVYGFVRACLRRLVPPGLWGSRHNERRFLRNTKKFISLGKHAKLSLQEL
                     TWKMSVRDCAWLRRSPGVGCVPAAEHRLREEILAKFLHWLMSVYVVELLRSFFYVTET
                     TFQKNRLFFYRKSVWSKLQSIGIRQHLKRVQLRELSEAEVRQHREARPALLTSRLRFI
                     PKPDGLRPIVNMDYVVGARTFRREKRAERLTSRVKALFSVLNYERARRPGLLGASVLG
                     LDDIHRAWRTFVLRVRAQDPPPELYFVKVDVTGAYDTIPQDRLTEVIASIIKPQNTYC
                     VRRYAVVQKAAHGHVRKAFKSHVSTLTDLQPYMRQFVAHLQETSPLRDAVVIEQSSSL
                     NEASSGLFDVFLRFMCHHAVRIRGKSYVQCQGIPQGSILSTLLCSLCYGDMENKLFAG
                     IRRDGLLLRLVDDFLLVTPHLTHAKTFLSYARTSIRASLTFNRGFKAGRNMRRKLFGV
                     LRLKCHSLFLDLQVNSLQTVCTNIYKILLLQAYRFHACVLQLPFHQQVWKNPTFFLRV
                     ISDTASLCYSILKAKNAGMSLGAKGAAGPLPSEAVQWLCHQAFLLKLTRHRVTYVPLL
                     GSLRTAQTQLSRKLPGTTLTALEAAANPALPSDFKTILD"
     exon            299..1652
                     /gene="TERT"
                     /gene_synonym="CMM9; DKCA2; DKCB4; EST2; hEST2; hTRT;
                     PFBMFT1; TCS1; TP2; TRT"
                     /inference="alignment:Splign:2.1.0"
     exon            1653..1848
                     /gene="TERT"
                     /gene_synonym="CMM9; DKCA2; DKCB4; EST2; hEST2; hTRT;
                     PFBMFT1; TCS1; TP2; TRT"
                     /inference="alignment:Splign:2.1.0"
     exon            1849..2029
                     /gene="TERT"
                     /gene_synonym="CMM9; DKCA2; DKCB4; EST2; hEST2; hTRT;
                     PFBMFT1; TCS1; TP2; TRT"
                     /inference="alignment:Splign:2.1.0"
     exon            2030..2209
                     /gene="TERT"
                     /gene_synonym="CMM9; DKCA2; DKCB4; EST2; hEST2; hTRT;
                     PFBMFT1; TCS1; TP2; TRT"
                     /inference="alignment:Splign:2.1.0"
     exon            2210..2365
                     /gene="TERT"
                     /gene_synonym="CMM9; DKCA2; DKCB4; EST2; hEST2; hTRT;
                     PFBMFT1; TCS1; TP2; TRT"
                     /inference="alignment:Splign:2.1.0"
     exon            2366..2461
                     /gene="TERT"
                     /gene_synonym="CMM9; DKCA2; DKCB4; EST2; hEST2; hTRT;
                     PFBMFT1; TCS1; TP2; TRT"
                     /inference="alignment:Splign:2.1.0"
     exon            2462..2547
                     /gene="TERT"
                     /gene_synonym="CMM9; DKCA2; DKCB4; EST2; hEST2; hTRT;
                     PFBMFT1; TCS1; TP2; TRT"
                     /inference="alignment:Splign:2.1.0"
     exon            2548..2661
                     /gene="TERT"
                     /gene_synonym="CMM9; DKCA2; DKCB4; EST2; hEST2; hTRT;
                     PFBMFT1; TCS1; TP2; TRT"
                     /inference="alignment:Splign:2.1.0"
     exon            2662..2733
                     /gene="TERT"
                     /gene_synonym="CMM9; DKCA2; DKCB4; EST2; hEST2; hTRT;
                     PFBMFT1; TCS1; TP2; TRT"
                     /inference="alignment:Splign:2.1.0"
     exon            2734..2860
                     /gene="TERT"
                     /gene_synonym="CMM9; DKCA2; DKCB4; EST2; hEST2; hTRT;
                     PFBMFT1; TCS1; TP2; TRT"
                     /inference="alignment:Splign:2.1.0"
     exon            2861..2922
                     /gene="TERT"
                     /gene_synonym="CMM9; DKCA2; DKCB4; EST2; hEST2; hTRT;
                     PFBMFT1; TCS1; TP2; TRT"
                     /inference="alignment:Splign:2.1.0"
     exon            2923..3047
                     /gene="TERT"
                     /gene_synonym="CMM9; DKCA2; DKCB4; EST2; hEST2; hTRT;
                     PFBMFT1; TCS1; TP2; TRT"
                     /inference="alignment:Splign:2.1.0"
     exon            3048..3185
                     /gene="TERT"
                     /gene_synonym="CMM9; DKCA2; DKCB4; EST2; hEST2; hTRT;
                     PFBMFT1; TCS1; TP2; TRT"
                     /inference="alignment:Splign:2.1.0"
     exon            3186..3850
                     /gene="TERT"
                     /gene_synonym="CMM9; DKCA2; DKCB4; EST2; hEST2; hTRT;
                     PFBMFT1; TCS1; TP2; TRT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3821..3826
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TERT"
                     /gene_synonym="CMM9; DKCA2; DKCB4; EST2; hEST2; hTRT;
                     PFBMFT1; TCS1; TP2; TRT"
                     /note="hexamer: AATATA"
     polyA_site      3850
                     /gene="TERT"
                     /gene_synonym="CMM9; DKCA2; DKCB4; EST2; hEST2; hTRT;
                     PFBMFT1; TCS1; TP2; TRT"
                     /note="major polyA site"
ORIGIN      
        1 ctctcctcgc ggcgcgagtt tcaggcagcg ctgcgtcctg ctgcgcacgt gggaagccct
       61 ggccccggcc acccccgcga tgccgcgcgc tccccgctgc cgagccgtgc gctccctgct
      121 gcgcagccac taccgcgagg tgctgccgct ggccacgttc gtgcggcgcc tggggcccca
      181 gggctggcgg ctggtgcagc gcggggaccc ggcggctttc cgcgcgctgg tggcccagtg
      241 cctggtgtgc gtgccctggg acgcacggcc gccccccgcc gccccctcct tccgccaggt
      301 gtcctgcctg aaggagctgg tggcccgagt gctgcagagg ctgtgcgagc gcggcgcgaa
      361 gaacgtgctg gccttcggct tcgcgctgct ggacggggcc cgcgggggcc cccccgaggc
      421 cttcaccacc agcgtgcgca gctacctgcc caacacggtg accgacgcac tgcgggggag
      481 cggggcgtgg gggctgctgc tgcgccgcgt gggcgacgac gtgctggttc acctgctggc
      541 acgctgcgcg ctctttgtgc tggtggctcc cagctgcgcc taccaggtgt gcgggccgcc
      601 gctgtaccag ctcggcgctg ccactcaggc ccggcccccg ccacacgcta gtggaccccg
      661 aaggcgtctg ggatgcgaac gggcctggaa ccatagcgtc agggaggccg gggtccccct
      721 gggcctgcca gccccgggtg cgaggaggcg cgggggcagt gccagccgaa gtctgccgtt
      781 gcccaagagg cccaggcgtg gcgctgcccc tgagccggag cggacgcccg ttgggcaggg
      841 gtcctgggcc cacccgggca ggacgcgtgg accgagtgac cgtggtttct gtgtggtgtc
      901 acctgccaga cccgccgaag aagccacctc tttggagggt gcgctctctg gcacgcgcca
      961 ctcccaccca tccgtgggcc gccagcacca cgcgggcccc ccatccacat cgcggccacc
     1021 acgtccctgg gacacgcctt gtcccccggt gtacgccgag accaagcact tcctctactc
     1081 ctcaggcgac aaggagcagc tgcggccctc cttcctactc agctctctga ggcccagcct
     1141 gactggcgct cggaggctcg tggagaccat ctttctgggt tccaggccct ggatgccagg
     1201 gactccccgc aggttgcccc gcctgcccca gcgctactgg caaatgcggc ccctgtttct
     1261 ggagctgctt gggaaccacg cgcagtgccc ctacggggtg ctcctcaaga cgcactgccc
     1321 gctgcgagct gcggtcaccc cagcagccgg tgtctgtgcc cgggagaagc cccagggctc
     1381 tgtggcggcc cccgaggagg aggacacaga cccccgtcgc ctggtgcagc tgctccgcca
     1441 gcacagcagc ccctggcagg tgtacggctt cgtgcgggcc tgcctgcgcc ggctggtgcc
     1501 cccaggcctc tggggctcca ggcacaacga acgccgcttc ctcaggaaca ccaagaagtt
     1561 catctccctg gggaagcatg ccaagctctc gctgcaggag ctgacgtgga agatgagcgt
     1621 gcgggactgc gcttggctgc gcaggagccc aggggttggc tgtgttccgg ccgcagagca
     1681 ccgtctgcgt gaggagatcc tggccaagtt cctgcactgg ctgatgagtg tgtacgtcgt
     1741 cgagctgctc aggtctttct tttatgtcac ggagaccacg tttcaaaaga acaggctctt
     1801 tttctaccgg aagagtgtct ggagcaagtt gcaaagcatt ggaatcagac agcacttgaa
     1861 gagggtgcag ctgcgggagc tgtcggaagc agaggtcagg cagcatcggg aagccaggcc
     1921 cgccctgctg acgtccagac tccgcttcat ccccaagcct gacgggctgc ggccgattgt
     1981 gaacatggac tacgtcgtgg gagccagaac gttccgcaga gaaaagaggg ccgagcgtct
     2041 cacctcgagg gtgaaggcac tgttcagcgt gctcaactac gagcgggcgc ggcgccccgg
     2101 cctcctgggc gcctctgtgc tgggcctgga cgatatccac agggcctggc gcaccttcgt
     2161 gctgcgtgtg cgggcccagg acccgccgcc tgagctgtac tttgtcaagg tggatgtgac
     2221 gggcgcgtac gacaccatcc cccaggacag gctcacggag gtcatcgcca gcatcatcaa
     2281 accccagaac acgtactgcg tgcgtcggta tgccgtggtc cagaaggccg cccatgggca
     2341 cgtccgcaag gccttcaaga gccacgtctc taccttgaca gacctccagc cgtacatgcg
     2401 acagttcgtg gctcacctgc aggagaccag cccgctgagg gatgccgtcg tcatcgagca
     2461 gagctcctcc ctgaatgagg ccagcagtgg cctcttcgac gtcttcctac gcttcatgtg
     2521 ccaccacgcc gtgcgcatca ggggcaagtc ctacgtccag tgccagggga tcccgcaggg
     2581 ctccatcctc tccacgctgc tctgcagcct gtgctacggc gacatggaga acaagctgtt
     2641 tgcggggatt cggcgggacg ggctgctcct gcgtttggtg gatgatttct tgttggtgac
     2701 acctcacctc acccacgcga aaaccttcct cagctatgcc cggacctcca tcagagccag
     2761 tctcaccttc aaccgcggct tcaaggctgg gaggaacatg cgtcgcaaac tctttggggt
     2821 cttgcggctg aagtgtcaca gcctgtttct ggatttgcag gtgaacagcc tccagacggt
     2881 gtgcaccaac atctacaaga tcctcctgct gcaggcgtac aggtttcacg catgtgtgct
     2941 gcagctccca tttcatcagc aagtttggaa gaaccccaca tttttcctgc gcgtcatctc
     3001 tgacacggcc tccctctgct actccatcct gaaagccaag aacgcaggga tgtcgctggg
     3061 ggccaagggc gccgccggcc ctctgccctc cgaggccgtg cagtggctgt gccaccaagc
     3121 attcctgctc aagctgactc gacaccgtgt cacctacgtg ccactcctgg ggtcactcag
     3181 gacagcccag acgcagctga gtcggaagct cccggggacg acgctgactg ccctggaggc
     3241 cgcagccaac ccggcactgc cctcagactt caagaccatc ctggactgat ggccacccgc
     3301 ccacagccag gccgagagca gacaccagca gccctgtcac gccgggctct acgtcccagg
     3361 gagggagggg cggcccacac ccaggcccgc accgctggga gtctgaggcc tgagtgagtg
     3421 tttggccgag gcctgcatgt ccggctgaag gctgagtgtc cggctgaggc ctgagcgagt
     3481 gtccagccaa gggctgagtg tccagcacac ctgccgtctt cacttcccca caggctggcg
     3541 ctcggctcca ccccagggcc agcttttcct caccaggagc ccggcttcca ctccccacat
     3601 aggaatagtc catccccaga ttcgccattg ttcacccctc gccctgccct cctttgcctt
     3661 ccacccccac catccaggtg gagaccctga gaaggaccct gggagctctg ggaatttgga
     3721 gtgaccaaag gtgtgccctg tacacaggcg aggaccctgc acctggatgg gggtccctgt
     3781 gggtcaaatt ggggggaggt gctgtgggag taaaatactg aatatatgag tttttcagtt
     3841 ttgaaaaaaa
//
