Alternative titles; symbols
HGNC Approved Gene Symbol: GAR1
Cytogenetic location: 4q25 Genomic coordinates (GRCh38) : 4:109,815,510-109,824,737 (from NCBI)
Small nucleolar RNAs (snoRNAs) of the H/ACA class specify the sites of uridine-to-pseudouridine conversion. The H and ACA motifs are located in the hinge and tail, respectively, of a 2-domain hairpin-hinge-hairpin-tail structure. The uridine conversion process, together with the removal of the spacer region and the 2-prime-O-methylation of ribose groups, which is carried out by snoRNAs of the C/D class, is required for the generation of functional rRNAs (see Tollervey and Kiss (1997) for further information). GAR1 is a component of H/ACA sno-ribonucleoproteins (snoRNPs) and telomerase (see 602322) (Dragon et al., 2000).
By cell fractionation and competition assays, Dragon et al. (2000) showed that the 3-prime terminal hairpin of U17 cleavage RNA (see 603238) and telomerase RNA can form an RNP in association with RNAs and 4 proteins (60, 29, 23, and 14 kD) of the H/ACA class. By EST database searching and probing a Burkitt lymphoma cDNA library, Dragon et al. (2000) obtained a cDNA encoding NOLA1, which they called GAR1 after its yeast homolog. The deduced 217-amino acid NOLA1 protein contains a core domain that is flanked by glycine- and arginine-rich (GAR) domains, which compose half of the sequence. Western blot analysis showed expression of a 28-kD protein, higher than the calculated mass of 23 kD. Immunoprecipitation analysis demonstrated that NOLA1 is a subunit of H/ACA snoRNPs and telomerase, but it is not required for H/ACA protein assembly. Dragon et al. (2000) proposed that the 23- and 14-kD H/ACA proteins represent the human homologs of the yeast Nhp2 (NOLA2; 606470) and Nop10 (NOLA3; 606471) proteins.
Gross (2021) mapped the GAR1 gene to chromosome 4q25 based on an alignment of the GAR1 sequence (GenBank BC003413) with the genomic sequence (GRCh38).
Dragon, F., Pogacic, V., Filipowicz, W. In vitro assembly of human H/ACA small nucleolar RNPs reveals unique features of U17 and telomerase RNAs. Molec. Cell. Biol. 20: 3037-3048, 2000. [PubMed: 10757788] [Full Text: https://doi.org/10.1128/MCB.20.9.3037-3048.2000]
Gross, M. B. Personal Communication. Baltimore, Md. 11/1/2021.
Tollervey, D., Kiss, T. Function and synthesis of small nucleolar RNAs. Curr. Opin. Cell Biol. 9: 337-342, 1997. [PubMed: 9159079] [Full Text: https://doi.org/10.1016/s0955-0674(97)80005-1]