Nucleolar protein, member A1

H/ACA ribonucleoprotein complex subunit 1 is a protein that in humans is encoded by the GAR1 gene.[3][4]

GAR1
Identifiers
Aliases	GAR1, NOLA1, Nucleolar protein, member A1, GAR1 ribonucleoprotein
External IDs	OMIM: 606468 HomoloGene: 137420 GeneCards: GAR1
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q25 Start 109,815,510 bp[1] End 109,824,740 bp[1]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001948 protein binding • telomerase RNA binding • box H/ACA snoRNA binding • RNA binding Cellular component • box H/ACA snoRNP complex • Cajal body • box H/ACA telomerase RNP complex • box H/ACA scaRNP complex • nuclear chromosome, telomeric region • cell nucleus • telomerase holoenzyme complex • nucleoplasm • fibrillar center • nucleolus Biological process • rRNA processing • pseudouridine synthesis • telomere maintenance via telomerase • ribosome biogenesis • rRNA pseudouridine synthesis • snoRNA guided rRNA pseudouridine synthesis Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	54433	n/a
Ensembl	ENSG00000109534	n/a
UniProt	Q9NY12	n/a
RefSeq (mRNA)	NM_032993 NM_018983	n/a
RefSeq (protein)	NP_061856 NP_127460	n/a
Location (UCSC)	Chr 4: 109.82 – 109.82 Mb	n/a
PubMed search	[2]	n/a
Wikidata
View/Edit Human

Function

This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA2 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The encoded protein of this gene contains two glycine- and arginine-rich domains and is related to Saccharomyces cerevisiae Gar1p. Two splice variants have been found for this gene.[4]

Interactions

Nucleolar protein, member A1 has been shown to interact with SMN1.[5]

References

1. GRCh38: Ensembl release 89: ENSG00000109534 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. Dragon F, Pogacić V, Filipowicz W (May 2000). "In vitro assembly of human H/ACA small nucleolar RNPs reveals unique features of U17 and telomerase RNAs". Mol Cell Biol. 20 (9): 3037–48. doi:10.1128/MCB.20.9.3037-3048.2000. PMC 85579. PMID 10757788.
4. "Entrez Gene: NOLA1 nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs)".
5. Pellizzoni L, Baccon J, Charroux B, Dreyfuss G (Jul 2001). "The survival of motor neurons (SMN) protein interacts with the snoRNP proteins fibrillarin and GAR1". Curr. Biol. 11 (14): 1079–88. doi:10.1016/S0960-9822(01)00316-5. PMID 11509230.

Further reading

• Fujii Y, Zhao FX, Fu SC, Nakai N, Lai CY (1992). "Stable preparation of aldose reductase isoenzymes from human placenta". Protein Expr. Purif. 2 (5–6): 420–5. doi:10.1016/1046-5928(91)90103-P. PMID 1821816.
• Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee NH, Kirkness EF, Weinstock KG, Gocayne JD, White O (1995). "Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence" (PDF). Nature. 377 (6547 Suppl): 3–174. PMID 7566098.
• Ardell MD, Aragon I, Oliveira L, Porche GE, Burke E, Pittler SJ (1996). "The beta subunit of human rod photoreceptor cGMP-gated cation channel is generated from a complex transcription unit". FEBS Lett. 389 (2): 213–8. doi:10.1016/0014-5793(96)00588-1. PMID 8766832.
• Pogacić V, Dragon F, Filipowicz W (2000). "Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10". Mol. Cell. Biol. 20 (23): 9028–40. doi:10.1128/MCB.20.23.9028-9040.2000. PMC 86556. PMID 11074001.
• Pellizzoni L, Baccon J, Charroux B, Dreyfuss G (2001). "The survival of motor neurons (SMN) protein interacts with the snoRNP proteins fibrillarin and GAR1". Curr. Biol. 11 (14): 1079–88. doi:10.1016/S0960-9822(01)00316-5. PMID 11509230.
• Andersen JS, Lyon CE, Fox AH, Leung AK, Lam YW, Steen H, Mann M, Lamond AI (2002). "Directed proteomic analysis of the human nucleolus". Curr. Biol. 12 (1): 1–11. doi:10.1016/S0960-9822(01)00650-9. PMID 11790298.
• Whitehead SE, Jones KW, Zhang X, Cheng X, Terns RM, Terns MP (2003). "Determinants of the interaction of the spinal muscular atrophy disease protein SMN with the dimethylarginine-modified box H/ACA small nucleolar ribonucleoprotein GAR1". J. Biol. Chem. 277 (50): 48087–93. doi:10.1074/jbc.M204551200. PMID 12244096.
• Wang C, Meier UT (2005). "Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteins". EMBO J. 23 (8): 1857–67. doi:10.1038/sj.emboj.7600181. PMC 394235. PMID 15044956.
• Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, Li Y, Xu C, Fang R, Guegler K, Rao MS, Mandalam R, Lebkowski J, Stanton LW (2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nat. Biotechnol. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197.
• Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI, Mann M (2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. doi:10.1038/nature03207. PMID 15635413.
• Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.