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]
Interactionsedit
Nucleolar protein, member A1 has been shown to interact with SMN1.[5]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000109534 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^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. PMC85579. PMID 10757788.
^ ab"Entrez Gene: NOLA1 nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs)".
^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. S2CID 12392702.
Further readingedit
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. PMC86556. 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. 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. 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. PMC394235. 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.
This article on a gene on human chromosome 4 is a stub. You can help Wikipedia by expanding it.
nucleolar, protein, member, ribonucleoprotein, complex, subunit, protein, that, humans, encoded, gar1, gene, gar1identifiersaliasesgar1, nola1, gar1, ribonucleoproteinexternal, idsomim, 606468, homologene, 137420, genecards, gar1gene, location, human, chromoso. H ACA ribonucleoprotein complex subunit 1 is a protein that in humans is encoded by the GAR1 gene 3 4 GAR1IdentifiersAliasesGAR1 NOLA1 Nucleolar protein member A1 GAR1 ribonucleoproteinExternal IDsOMIM 606468 HomoloGene 137420 GeneCards GAR1Gene location Human Chr Chromosome 4 human 1 Band4q25Start109 815 510 bp 1 End109 824 740 bp 1 RNA expression patternBgeeHumanMouse ortholog Top expressed inparotid glandamniotic fluidinternal globus pallidusgerminal epitheliumendometriumhair folliclecavity of mouthparietal pleuravisceral pleuramonocyten aMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionprotein binding telomerase RNA binding box H ACA snoRNA binding RNA bindingCellular componentbox H ACA snoRNP complex Cajal body box H ACA telomerase RNP complex box H ACA scaRNP complex nucleus telomerase holoenzyme complex nucleoplasm fibrillar center nucleolusBiological processrRNA processing pseudouridine synthesis telomere maintenance via telomerase ribosome biogenesis rRNA pseudouridine synthesis snoRNA guided rRNA pseudouridine synthesisSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez54433n aEnsemblENSG00000109534n aUniProtQ9NY12n aRefSeq mRNA NM 032993NM 018983n aRefSeq protein NP 061856NP 127460n aLocation UCSC Chr 4 109 82 109 82 Mbn aPubMed search 2 n aWikidataView Edit Human Contents 1 Function 2 Interactions 3 References 4 Further readingFunction editThis 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 editNucleolar protein member A1 has been shown to interact with SMN1 5 References edit a b c GRCh38 Ensembl release 89 ENSG00000109534 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Dragon F Pogacic 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 a b Entrez Gene NOLA1 nucleolar protein family A member 1 H ACA small nucleolar RNPs 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 S2CID 12392702 Further reading editFujii 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 Pogacic 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 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 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 nbsp This article on a gene on human chromosome 4 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Nucleolar protein member A1 amp oldid 1142701023, wikipedia, wiki, book, books, library,
