|Other Names||H/ACA ribonucleoprotein complex subunit 1, Nucleolar protein family A member 1, snoRNP protein GAR1, GAR1, NOLA1|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ("psi") residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme.|
|Cellular Location||Nucleus, nucleolus. Nucleus, Cajal body. Note=Also localized to Cajal bodies (coiled bodies)|
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This gene is a member of the H/ACA snoRNPs (smallnucleolar ribonucleoproteins) gene family. snoRNPs are involved invarious aspects of rRNA processing and modification and have beenclassified into two families: C/D and H/ACA. The H/ACA snoRNPs alsoinclude the DKC1, NOLA2 and NOLA3 proteins. These four H/ACA snoRNPproteins localize to the dense fibrillar components of nucleoli andto coiled (Cajal) bodies in the nucleus. Both 18S rRNA productionand rRNA pseudouridylation are impaired if any one of the fourproteins is depleted. These four H/ACA snoRNP proteins are alsocomponents of the telomerase complex. The encoded protein of thisgene contains two glycine- and arginine-rich domains and is relatedto Saccharomyces cerevisiae Gar1p. Two splice variants have beenfound for this gene.
Kalsi, G., et al. Hum. Mol. Genet. 19(12):2497-2506(2010)Hamma, T., et al. J. Biol. Chem. 285(2):805-809(2010)Pigullo, S., et al. Pediatr Blood Cancer 52(3):376-378(2009)Vasan, R.S., et al. BMC Med. Genet. 8 SUPPL 1, S2 (2007) :Andersen, J.S., et al. Nature 433(7021):77-83(2005)
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