Nucleolar protein, member A1

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

GAR1
Identifiers
Aliases	GAR1, NOLA1, Nucleolar protein, member A1, GAR1 ribonucleoprotein
External IDs	OMIM: 606468; MGI: 1930948; HomoloGene: 137420; GeneCards: GAR1; OMA:GAR1 - orthologs
Gene location (Human) Chr. Chromosome 4 (human) Band 4q25 Start 109,815,510 bp End 109,824,740 bp
Gene location (Mouse) Chr. Chromosome 3 (mouse) Band 3|3 G3 Start 129,618,561 bp End 129,625,045 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tendon of biceps brachii parotid gland amniotic fluid internal globus pallidus germinal epithelium epithelium of nasopharynx endometrium hair follicle gingival epithelium oral cavity Top expressed in Ileal epithelium otic placode primitive streak otic vesicle yolk sac saccule epiblast zygote tail of embryo hair follicle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function 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 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 68147 Ensembl ENSG00000109534 ENSMUSG00000028010 UniProt Q9NY12 Q9CY66 RefSeq (mRNA) NM_032993 NM_018983 NM_026578 RefSeq (protein) NP_061856 NP_127460 NP_080854 Location (UCSC) Chr 4: 109.82 – 109.82 Mb Chr 3: 129.62 – 129.63 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

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.

Interactions

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

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. S2CID 37174534.
• 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. Bibcode:2001CBio...11.1079P. doi:10.1016/S0960-9822(01)00316-5. PMID 11509230. S2CID 12392702.
• 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. Bibcode:2002CBio...12....1A. doi:10.1016/S0960-9822(01)00650-9. PMID 11790298. S2CID 14132033.
• 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. S2CID 27764390.
• Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI, Mann M (2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. Bibcode:2005Natur.433...77A. doi:10.1038/nature03207. PMID 15635413. S2CID 4344740.
• 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. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.