Nucleolar protein, member A1

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)
End	109,824,740 bp
RNA expression pattern
	Top expressed in
	parotid gland; ; amniotic fluid; ; internal globus pallidus; ; germinal epithelium; ; endometrium; ; hair follicle; ; oral cavity; ; parietal pleura; ; visceral pleura; ; monocyte;
	n/a
	More reference expression data
	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
	54433
	n/a
	ENSG00000109534
	n/a
	Q9NY12
	n/a
	NM_032993 ; NM_018983
	n/a
	NP_061856 ; NP_127460
	n/a
	Wikidata
View/Edit Human

Last updated April 07, 2024

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

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]

Related Research Articles

snRNPs, or small nuclear ribonucleoproteins, are RNA-protein complexes that combine with unmodified pre-mRNA and various other proteins to form a spliceosome, a large RNA-protein molecular complex upon which splicing of pre-mRNA occurs. The action of snRNPs is essential to the removal of introns from pre-mRNA, a critical aspect of post-transcriptional modification of RNA, occurring only in the nucleus of eukaryotic cells. Additionally, U7 snRNP is not involved in splicing at all, as U7 snRNP is responsible for processing the 3′ stem-loop of histone pre-mRNA.

In molecular biology, small nucleolar RNAs (snoRNAs) are a class of small RNA molecules that primarily guide chemical modifications of other RNAs, mainly ribosomal RNAs, transfer RNAs and small nuclear RNAs. There are two main classes of snoRNA, the C/D box snoRNAs, which are associated with methylation, and the H/ACA box snoRNAs, which are associated with pseudouridylation. SnoRNAs are commonly referred to as guide RNAs but should not be confused with the guide RNAs that direct RNA editing in trypanosomes or the guide RNAs (gRNAs) used by Cas9 for CRISPR gene editing.

Coilin is a protein that in humans is encoded by the COIL gene. Coilin got its name from the coiled shape of the Cajal bodies in which it is found. It was first identified using human autoimmune serum.

Gideon Dreyfuss is an American biochemist, the Isaac Norris Professor of Biochemistry and Biophysics at the University of Pennsylvania School of Medicine, and an investigator of the Howard Hughes Medical Institute. He was elected to the National Academy of Sciences in 2012.

Survival of motor neuron or survival motor neuron (SMN) is a protein that in humans is encoded by the SMN1 and SMN2 genes.

rRNA 2'-O-methyltransferase fibrillarin is an enzyme that in humans is encoded by the FBL gene.

<span class="mw-page-title-main">Small Cajal body-specific RNA</span>

Small Cajal body-specific RNAs (scaRNAs) are a class of small nucleolar RNAs (snoRNAs) that specifically localise to the Cajal body, a nuclear organelle involved in the biogenesis of small nuclear ribonucleoproteins. ScaRNAs guide the modification of RNA polymerase II transcribed spliceosomal RNAs U1, U2, U4, U5 and U12.

Small nuclear ribonucleoprotein-associated proteins B and B' is a protein that in humans is encoded by the SNRPB gene.

H/ACA ribonucleoprotein complex subunit 4 is a protein that in humans is encoded by the gene DKC1.

Small nuclear ribonucleoprotein Sm D3 is a protein that in humans is encoded by the SNRPD3 gene.

Heterogeneous nuclear ribonucleoprotein H is a protein that in humans is encoded by the HNRNPH1 gene.

Nucleolar protein 56 is a protein that in humans is encoded by the NOP56 gene.

Nucleolar protein 58 is a protein that in humans is encoded by the NOP58 gene.

U1 small nuclear ribonucleoprotein C is a protein that in humans is encoded by the SNRPC gene.

H/ACA ribonucleoprotein complex subunit 2 is a protein that in humans is encoded by the NHP2 gene.

U3 small nucleolar RNA-interacting protein 2 is a protein that in humans is encoded by the RRP9 gene.

U3 small nucleolar ribonucleoprotein protein MPP10 is a protein that in humans is encoded by the MPHOSPH10 gene.

Gem-associated protein 5 is a protein that in humans is encoded by the GEMIN5 gene.

RNA-binding protein 28 is a protein that in humans is encoded by the RBM28 gene. It is a nucleolar component of the spliceosomal ribonucleoprotein complexes.

U3 small nucleolar ribonucleoprotein protein IMP4 is a protein that in humans is encoded by the IMP4 gene.

References

1 2 3 GRCh38: 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. PMC 85579 . PMID 10757788.
1 2 "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. Bibcode:2001CBio...11.1079P. doi: 10.1016/S0960-9822(01)00316-5 . PMID 11509230. S2CID 12392702.

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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000109534 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10757788-3] 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.

[entrez-4] 1 2 "Entrez Gene: NOLA1 nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs)".

[pmid11509230-5] 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. Bibcode:2001CBio...11.1079P. doi: 10.1016/S0960-9822(01)00316-5 . PMID 11509230. S2CID 12392702.

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Nucleolar protein, member A1

Contents

Function

Interactions

Related Research Articles

References

Further reading