Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.
| RefSeq Version | NM_198253.2, 109633030 |
| Length | 4018 bp |
| Structure | linear |
| Update Date | 03-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA. |
| Product | telomerase reverse transcriptase isoform 1 |
| Comment | 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]. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). |
| RefSeq | NP_937983.2 |
| CDS | 59..3457 | Exon (1) | 1..277 | Exon (2) | 1..277 | Exon (3) | 278..1631 | Exon (4) | 1632..1827 | Exon (5) | 1828..2008 | Exon (6) | 2009..2188 | Exon (7) | 2189..2344 | Exon (8) | 2345..2440 | Exon (9) | 2441..2526 | Exon (10) | 2527..2640 | Exon (11) | 2641..2712 | Exon (12) | 2713..2901 | Exon (13) | 2902..3028 | Exon (14) | 3029..3090 | Exon (15) | 3091..3215 | Exon (16) | 3216..3353 | Exon (17) | 3354..4018 |
| Translation | MPRAPRCRAVRSLLRSHYREVLPLATFVRRLGPQGWRLVQRGDPAAFRALVAQCLVCVPW
DARPPPAAPSFRQVSCLKELVARVLQRLCERGAKNVLAFGFALLDGARGGPPEAFTTSVR
SYLPNTVTDALRGSGAWGLLLRRVGDDVLVHLLARCALFVLVAPSCAYQVCGPPLYQLGA
ATQARPPPHASGPRRRLGCERAWNHSVREAGVPLGLPAPGARRRGGSASRSLPLPKRPRR
GAAPEPERTPVGQGSWAHPGRTRGPSDRGFCVVSPARPAEEATSLEGALSGTRHSHPSVG
RQHHAGPPSTSRPPRPWDTPCPPVYAETKHFLYSSGDKEQLRPSFLLSSLRPSLTGARRL
VETIFLGSRPWMPGTPRRLPRLPQRYWQMRPLFLELLGNHAQCPYGVLLKTHCPLRAAVT
PAAGVCAREKPQGSVAAPEEEDTDPRRLVQLLRQHSSPWQVYGFVRACLRRLVPPGLWGS
RHNERRFLRNTKKFISLGKHAKLSLQELTWKMSVRDCAWLRRSPGVGCVPAAEHRLREEI
LAKFLHWLMSVYVVELLRSFFYVTETTFQKNRLFFYRKSVWSKLQSIGIRQHLKRVQLRE
LSEAEVRQHREARPALLTSRLRFIPKPDGLRPIVNMDYVVGARTFRREKRAERLTSRVKA
LFSVLNYERARRPGLLGASVLGLDDIHRAWRTFVLRVRAQDPPPELYFVKVDVTGAYDTI
PQDRLTEVIASIIKPQNTYCVRRYAVVQKAAHGHVRKAFKSHVSTLTDLQPYMRQFVAHL
QETSPLRDAVVIEQSSSLNEASSGLFDVFLRFMCHHAVRIRGKSYVQCQGIPQGSILSTL
LCSLCYGDMENKLFAGIRRDGLLLRLVDDFLLVTPHLTHAKTFLRTLVRGVPEYGCVVNL
RKTVVNFPVEDEALGGTAFVQMPAHGLFPWCGLLLDTRTLEVQSDYSSYARTSIRASLTF
NRGFKAGRNMRRKLFGVLRLKCHSLFLDLQVNSLQTVCTNIYKILLLQAYRFHACVLQLP
FHQQVWKNPTFFLRVISDTASLCYSILKAKNAGMSLGAKGAAGPLPSEAVQWLCHQAFLL
KLTRHRVTYVPLLGSLRTAQTQLSRKLPGTTLTALEAAANPALPSDFKTILD
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| Position | Chain | Variation | Link |
| complement(630) | - | g, c | dbSNP:11952056 |
| 662 | + | a, g | dbSNP:121918661 |
| 721 | + | a, g | dbSNP:35837567 |
| complement(796) | - | t, c | dbSNP:111527543 |
| complement(893) | - | t, c | dbSNP:61748181 |
| 973 | + | a, g | dbSNP:2736098 |
| complement(1250) | - | , c | dbSNP:67628414 |
| 1292 | + | c, t | dbSNP:34094720 |
| complement(1395) | - | t, c | dbSNP:111952055 |
| complement(1396) | - | g, a | dbSNP:112441737 |
| complement(1489) | - | g, c | dbSNP:35459373 |
| complement(1587) | - | , c | dbSNP:67172607 |
| complement(1605) | - | t, c | dbSNP:113065975 |
| 1717 | + | c, t | dbSNP:35809415 |
| complement(1762..1763) | - | , t | dbSNP:67541672 |
| complement(1818) | - | , a | dbSNP:66475544 |
| 1870 | + | a, g | dbSNP:33959226 |
| 1894 | + | c, g | dbSNP:34170122 |
| complement(1901) | - | t, c | dbSNP:112614087 |
| complement(1938) | - | , g | dbSNP:66688792 |
| 2071 | + | a, g | dbSNP:34625402 |
| 2089 | + | c, t | dbSNP:33956095 |
| 2138 | + | a, g | dbSNP:121918662 |
| 2155 | + | c, t | dbSNP:33963617 |
| complement(2365) | - | g, a | dbSNP:117662357 |
| 2373 | + | a, g | dbSNP:121918663 |
| 2652 | + | a, g | dbSNP:121918666 |
| 2764 | + | c, g | dbSNP:121918665 |
| 2833 | + | c, t | dbSNP:34528119 |
| 2902 | + | a, c | dbSNP:34062885 |
| 3097 | + | c, t | dbSNP:33954691 |
| complement(3132) | - | , a | dbSNP:67648047 |
| complement(3149) | - | , a | dbSNP:67578903 |
| complement(3159) | - | t, c | dbSNP:62331332 |
| 3242 | + | a, g | dbSNP:35719940 |
| 3326 | + | a, g | dbSNP:121918664 |
| complement(3332..3333) | - | , g | dbSNP:66907572 |
| 3382 | + | a, g | dbSNP:35033501 |
| 3520 | + | c, t | dbSNP:5031049 |
| 3556 | + | c, t | dbSNP:2853690 |
| complement(3610) | - | g, a | dbSNP:114012142 |
| 3708 | + | a, g | dbSNP:34527601 |
| complement(3732) | - | , a | dbSNP:67121469 |
| Gene Symbol | TERT |
| Gene Synonym | EST2; hEST2; TCS1; TP2; TRT |
| Chromosome | 5 |
| Locus Map | 5p15.33 |
| All Transcripts | NM_198253 , NM_001193376 |
| Title | Telomerase inhibitor PinX1 provides a link between TRF1 and telomerase to prevent telomere elongation . |
| Author | Soohoo,C.Y., Shi,R., Lee,T.H., Huang,P., Lu,K.P. and Zhou,X.Z. |
| Journal | J. Biol. Chem. 286 (5), 3894-3906 (2011) |
| Title | Proteomic studies coupled with RNAi methodologies can shed further light on the downstream effects of telomerase in glioma . |
| Author | Thakkar,D., Shervington,L. and Shervington,A. |
| Journal | Cancer Invest. 29 (2), 113-122 (2011) |
| Title | EGFR overexpression induces activation of telomerase via PI3K/AKT-mediated phosphorylation and transcriptional regulation through Hif1-alpha in a cellular model of oral-esophageal carcinogenesis . |
| Author | Heeg,S., Hirt,N., Queisser,A., Schmieg,H., Thaler,M., Kunert,H., Quante,M., Goessel,G., von Werder,A., Harder,J., Beijersbergen,R., Blum,H.E., Nakagawa,H. and Opitz,O.G. |
| Journal | Cancer Sci. 102 (2), 351-360 (2011) |
| Title | Genetic correction of PSA values using sequence variants associated with PSA levels . |
| Author | Gudmundsson,J., Besenbacher,S., Sulem,P., Gudbjartsson,D.F., Olafsson,I., Arinbjarnarson,S., Agnarsson,B.A., Benediktsdottir,K.R., Isaksson,H.J., Kostic,J.P., Gudjonsson,S.A., Stacey,S.N., Gylfason,A., Sigurdsson,A., Holm,H., Bjornsdottir,U.S., Eyjolfsson,G.I., Navarrete,S., Fuertes,F., Garcia-Prats,M.D., Polo,E., Checherita,I.A., Jinga,M., Badea,P., Aben,K.K., Schalken,J.A., van Oort,I.M., Sweep,F.C., Helfand,B.T., Davis,M., Donovan,J.L., Hamdy,F.C., Kristjansson,K., Gulcher,J.R., Masson,G., Kong,A., Catalona,W.J., Mayordomo,J.I., Geirsson,G., Einarsson,G.V., Barkardottir,R.B., Jonsson,E., Jinga,V., Mates,D., Kiemeney,L.A., Neal,D.E., Thorsteinsdottir,U., Rafnar,T. and Stefansson,K. |
| Journal | Sci Transl Med 2 (62), 62RA92 (2010) |
| Title | Study of telomerase reverse transcriptase (hTERT) expression in normal, aged, and photo-aged skin . |
| Author | Attia,E.A., Seada,L.S., El-Sayed,M.H. and El-Shiemy,S.M. |
| Journal | Int. J. Dermatol. 49 (8), 886-893 (2010) |
| Title | Human telomerase contains evolutionarily conserved catalytic and structural subunits . |
| Author | Harrington,L., Zhou,W., McPhail,T., Oulton,R., Yeung,D.S., Mar,V., Bass,M.B. and Robinson,M.O. |
| Journal | Genes Dev. 11 (23), 3109-3115 (1997) |
| Title | Isolation of a candidate human telomerase catalytic subunit gene, which reveals complex splicing patterns in different cell types . |
| Author | Kilian,A., Bowtell,D.D., Abud,H.E., Hime,G.R., Venter,D.J., Keese,P.K., Duncan,E.L., Reddel,R.R. and Jefferson,R.A. |
| Journal | Hum. Mol. Genet. 6 (12), 2011-2019 (1997) |
| Title | hEST2, the putative human telomerase catalytic subunit gene, is up-regulated in tumor cells and during immortalization . |
| Author | 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. |
| Journal | Cell 90 (4), 785-795 (1997) |
| Title | Telomerase catalytic subunit homologs from fission yeast and human . |
| Author | Nakamura,T.M., Morin,G.B., Chapman,K.B., Weinrich,S.L., Andrews,W.H., Lingner,J., Harley,C.B. and Cech,T.R. |
| Journal | Science 277 (5328), 955-959 (1997) |
| Title | Reverse transcriptase motifs in the catalytic subunit of telomerase . |
| Author | Lingner,J., Hughes,T.R., Shevchenko,A., Mann,M., Lundblad,V. and Cech,T.R. |
| Journal | Science 276 (5312), 561-567 (1997) |
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