H/ACA ribonucleoprotein complex subunit 1 is a protein that in humans is encoded by the GAR1 gene.^[5][6]

Quick Facts GAR1, Identifiers ...

GAR1
Identifiers
Aliases	GAR1, NOLA1, Nucleolar protein, member A1, GAR1 ribonucleoprotein
External IDs	OMIM: 606468 MGI: 1930948 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]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 G3 Start 129,618,561 bp[2] End 129,625,045 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in parotid gland amniotic fluid internal globus pallidus germinal epithelium endometrium hair follicle oral cavity parietal pleura visceral pleura monocyte Top expressed in otic placode primitive streak yolk sac saccule hair follicle Paneth cell abdominal wall cumulus cell secondary oocyte somite 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 [3] [4]
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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.^[6]

Nucleolar protein, member A1 has been shown to interact with SMN1.^[7]