YLR175W
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| Systematic name | YLR175W |
| Gene name | CBF5 |
| Aliases | |
| Feature type | ORF, Verified |
| Coordinates | Chr XII:506136..507587 |
| Primary SGDID | S000004165 |
Description of YLR175W: Pseudouridine synthase catalytic subunit of box H/ACA small nucleolar ribonucleoprotein particles (snoRNPs), acts on both large and small rRNAs and on snRNA U2; mutations in human ortholog dyskerin cause the disorder dyskeratosis congenita[1][2][3][4]
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References
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- ↑ Heiss NS, et al. (1998) X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet 19(1):32-8 SGD PMID 9590285
- ↑ Lafontaine DL, et al. (1998) The box H + ACA snoRNAs carry Cbf5p, the putative rRNA pseudouridine synthase. Genes Dev 12(4):527-37 SGD PMID 9472021
- ↑ Henras AK, et al. (2004) Cbf5p, the putative pseudouridine synthase of H/ACA-type snoRNPs, can form a complex with Gar1p and Nop10p in absence of Nhp2p and box H/ACA snoRNAs. RNA 10(11):1704-12 SGD PMID 15388873
- ↑ Ma X, et al. (2005) Pseudouridylation of yeast U2 snRNA is catalyzed by either an RNA-guided or RNA-independent mechanism. EMBO J 24(13):2403-13 SGD PMID 15962000
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