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HUGO Gene Nomenclature Committee
HGNC Approved SymbolHGNC Approved Name
TERCtelomerase RNA component
snoid : SR0000311
Length : 548
Abstract : Homo sapiens telomerase RNA (hTR). Human telomerase RNA was cloned by Feng et al. (1995). By in vitro and in vivo mapping experiments, Antal et al. (2002) showed that its 3' terminal domain folds into to a box H/ACA snoRNA-like "hairpin-hinge-hairpin-tail" structure, as previously predicted by Mitchell, Cheng and Collins (1999) and Chen, Blasco and Greider (2000). In agreement, RNP proteins associated with box H/ACA snoRNAs, including the pseudouridine synthase dyskerin, are also integral components of the human telomerase RNP (Mitchell, Wood and Collins, 1999; Filipowicz and Pogacic, 2002). The H/ACA domain of hTR is essential for both in vivo function and accumulation of telomerase (Fu and Collins, 2003). The autosomal dominant form of dyskeratosis congenita, an inherited skin and bone marrow failure syndrome, is due to mutations in hTR gene (Vulliamy et al. ,2001). FISH experiments showed that hTR accumulates in Cajal bodies of cancer cells. Accordingly, the conserved CR7 region in the second hairpin of the H/ACA domain of hTR contains a Cajal body-specific localization signal previously recognized in small Cajal body-specific RNAs (scaRNAs) (Richard et al. 2003). The NMR structure of the CR7/CAB box was determined by Theimer et al. (2007).
GenBank accession number : AF221907
Host gene : Independent transcriptional unit
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Target RNA : Unknown
sno/scaRNAs with same target Unknown : HBI-36   ACA11   ACA18   ACA29   ACA38   ACA39   ACA49   ACA51   ACA53   ACA59   U17a   U17b   HBII-436   HBII-437   HBII-438A   HBII-438B   HBII-13   14q(0)   14q(I-1)   14q(I-2)   14q(I-3)   14q(I-4)   14q(I-5)   14q(I-6)   14q(I-7)   14q(I-8)   14q(I-9)   14q(II-1)   14q(II-2)   14q(II-3)   14q(II-4)   14q(II-5)   14q(II-6)   14q(II-7)   14q(II-8)   14q(II-9)   14q(II-10)   14q(II-11)   14q(II-12)   14q(II-13)   14q(II-14)   14q(II-15)   14q(II-16)   14q(II-17)   14q(II-18)   14q(II-19)   14q(II-20)   14q(II-21)   14q(II-22)   14q(II-23)   14q(II-24)   14q(II-25)   14q(II-26)   14q(II-27)   14q(II-28)   14q(II-29)   14q(II-30)   14q(II-31)   HBII-52-32   HBII-52-20   HBII-52-19   HBII-52-18   HBII-52-17   HBII-52-2   HBII-52-3   HBII-52-7   HBII-52-25   HBII-52-23   HBII-85-27   HBII-85-26   HBII-85-24   HBII-85-23   HBII-85-22   HBII-85-21   HBII-85-20   HBII-85-19   HBII-85-1   HBII-85-2   HBII-85-3   HBII-85-4   HBII-85-5   HBII-85-6   HBII-85-7   HBII-85-8   HBII-85-9   HBII-85-10   HBII-85-11   HBII-85-12   HBII-85-13   HBII-85-14   HBII-85-15   HBII-85-16   HBII-85-17   HBII-85-18   U97   U98b   U101   U106   HBII-85-25   HBII-115   HBII-289   HBII-295   U50B   U3   U8   U13   U22   U3-2   U3-3   U3-4   U83   U84   U83A   U83B   U86   U73a   U73b   U3-2B   U108   U107   ACA59B   HBII-52-37   HBII-52-48   HBII-85-28   HBII-85-29   SNORA11B   SNORA11C   SNORA11D   SNORA11E   SNORA38B   SNORA84   SNORD126   SNORD125   SNORD124   SNORD123   
References :
- Richard, P., Darzacq, X., Bertrand, E., Jady, B. E., Verheggen, C., and Kiss, T. (2003). A common sequence motif determines the Cajal body-specific localization of box H/ACA scaRNAs. Embo J, 22, 4283-4293.
- Chen, J. L., Blasco, M. A., and Greider, C. W. (2000). Secondary structure of vertebrate telomerase RNA. Cell, 100, 503-514.
- Antal, M., Boros, E., Solymosy, F., and Kiss, T. (2002). Analysis of the structure of human telomerase RNA in vivo. Nucleic Acids Res, 30, 912-920.
- Mitchell, J. R., Cheng, J., and Collins, K. (1999). A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3' end. Mol Cell Biol, 19, 567-576.
- Fu, D., and Collins, K. (2003). Distinct biogenesis pathways for human telomerase RNA and H/ACA small nucleolar RNAs. Mol Cell, 11, 1361-1372.
- Mitchell, J. R., Wood, E., and Collins, K. (1999). A telomerase component is defective in the human disease dyskeratosis congenita. Nature, 402, 551-555
- Filipowicz, W., and Pogacic, V. (2002). Biogenesis of small nucleolar ribonucleoproteins. Curr Opin Cell Biol, 14, 319-327
- Vulliamy, T., Marrone, A., Goldman, F., Dearlove, A., Bessler, M., Mason, P. J., and Dokal, I. (2001). The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature, 413, 432-435
- Feng, J., Funk, W. D., Wang, S. S., Weinrich, S. L., Avilion, A. A., Chiu, C. P., Adams, R. R., Chang, E., Allsopp, R. C., Yu, J., and et al. (1995). The RNA component of human telomerase. Science, 269, 1236-1241.
- Theimer, C. A., Jady, B. E., Chim, N., Richard, P., Breece, K. E., Kiss, T., and Feigon, J. (2007). Structural and functional characterization of human telomerase RNA processing and cajal body localization signals. Mol Cell 27, 869-881
Sequence :
Phylogenic conservation: Alignment - Fasta file
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