LOCUS       NM_018983               1015 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens GAR1 ribonucleoprotein (GAR1), transcript variant 1,
            mRNA.
ACCESSION   NM_018983
VERSION     NM_018983.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1015)
  AUTHORS   MacNeil,D.E., Lambert-Lanteigne,P., Qin,J., McManus,F.P.,
            Bonneil,E., Thibault,P. and Autexier,C.
  TITLE     SUMOylation- and GAR1-Dependent Regulation of Dyskerin Nuclear and
            Subnuclear Localization
  JOURNAL   Mol Cell Biol 41 (4), e00464-20 (2021)
   PUBMED   33526451
  REMARK    GeneRIF: SUMOylation- and GAR1-Dependent Regulation of Dyskerin
            Nuclear and Subnuclear Localization.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1015)
  AUTHORS   Nguyen,T.H.D., Tam,J., Wu,R.A., Greber,B.J., Toso,D., Nogales,E.
            and Collins,K.
  TITLE     Cryo-EM structure of substrate-bound human telomerase holoenzyme
  JOURNAL   Nature 557 (7704), 190-195 (2018)
   PUBMED   29695869
REFERENCE   3  (bases 1 to 1015)
  AUTHORS   Zheng,J.S., Arnett,D.K., Lee,Y.C., Shen,J., Parnell,L.D.,
            Smith,C.E., Richardson,K., Li,D., Borecki,I.B., Ordovas,J.M. and
            Lai,C.Q.
  TITLE     Genome-wide contribution of genotype by environment interaction to
            variation of diabetes-related traits
  JOURNAL   PLoS One 8 (10), e77442 (2013)
   PUBMED   24204828
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1015)
  AUTHORS   Bellodi,C., McMahon,M., Contreras,A., Juliano,D., Kopmar,N.,
            Nakamura,T., Maltby,D., Burlingame,A., Savage,S.A., Shimamura,A.
            and Ruggero,D.
  TITLE     H/ACA small RNA dysfunctions in disease reveal key roles for
            noncoding RNA modifications in hematopoietic stem cell
            differentiation
  JOURNAL   Cell Rep 3 (5), 1493-1502 (2013)
   PUBMED   23707062
  REMARK    GeneRIF: The deregulated expression and function of H/ACA snoRNPs
            may underlie specific pathological features of human disease.
REFERENCE   5  (bases 1 to 1015)
  AUTHORS   Grolimund,L., Aeby,E., Hamelin,R., Armand,F., Chiappe,D.,
            Moniatte,M. and Lingner,J.
  TITLE     A quantitative telomeric chromatin isolation protocol identifies
            different telomeric states
  JOURNAL   Nat Commun 4, 2848 (2013)
   PUBMED   24270157
REFERENCE   6  (bases 1 to 1015)
  AUTHORS   Pellizzoni,L., Baccon,J., Charroux,B. and Dreyfuss,G.
  TITLE     The survival of motor neurons (SMN) protein interacts with the
            snoRNP proteins fibrillarin and GAR1
  JOURNAL   Curr Biol 11 (14), 1079-1088 (2001)
   PUBMED   11509230
REFERENCE   7  (bases 1 to 1015)
  AUTHORS   Pogacic,V., Dragon,F. and Filipowicz,W.
  TITLE     Human H/ACA small nucleolar RNPs and telomerase share
            evolutionarily conserved proteins NHP2 and NOP10
  JOURNAL   Mol Cell Biol 20 (23), 9028-9040 (2000)
   PUBMED   11074001
REFERENCE   8  (bases 1 to 1015)
  AUTHORS   Dragon,F., Pogacic,V. and Filipowicz,W.
  TITLE     In vitro assembly of human H/ACA small nucleolar RNPs reveals
            unique features of U17 and telomerase RNAs
  JOURNAL   Mol Cell Biol 20 (9), 3037-3048 (2000)
   PUBMED   10757788
REFERENCE   9  (bases 1 to 1015)
  AUTHORS   Adams,M.D., Kerlavage,A.R., Fleischmann,R.D., Fuldner,R.A.,
            Bult,C.J., Lee,N.H., Kirkness,E.F., Weinstock,K.G., Gocayne,J.D.,
            White,O. et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
REFERENCE   10 (bases 1 to 1015)
  AUTHORS   Fujii,Y., Zhao,F.X., Fu,S.C., Nakai,N. and Lai,C.Y.
  TITLE     Stable preparation of aldose reductase isoenzymes from human
            placenta
  JOURNAL   Protein Expr Purif 2 (5-6), 420-425 (1991)
   PUBMED   1821816
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CN428426.1, AJ276003.1 and
            BC003413.1.
            
            On Nov 23, 2018 this sequence version replaced NM_018983.3.
            
            Summary: 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. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) contains a region of
            additional sequence in the 5' UTR when compared to variant 2. The
            encoded protein is identical for both transcript variants.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ276003.1, SRR1163658.101898.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000226796.7/ ENSP00000226796.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-376               CN428426.1         218-593
            377-937             AJ276003.1         586-1146
            938-1015            BC003413.1         931-1008
FEATURES             Location/Qualifiers
     source          1..1015
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q25"
     gene            1..1015
                     /gene="GAR1"
                     /gene_synonym="NOLA1"
                     /note="GAR1 ribonucleoprotein"
                     /db_xref="GeneID:54433"
                     /db_xref="HGNC:HGNC:14264"
                     /db_xref="MIM:606468"
     exon            1..43
                     /gene="GAR1"
                     /gene_synonym="NOLA1"
                     /inference="alignment:Splign:2.1.0"
     exon            44..269
                     /gene="GAR1"
                     /gene_synonym="NOLA1"
                     /inference="alignment:Splign:2.1.0"
     CDS             56..709
                     /gene="GAR1"
                     /gene_synonym="NOLA1"
                     /note="nucleolar protein family A, member 1 (H/ACA small
                     nucleolar RNPs); nucleolar protein family A member 1;
                     snoRNP protein GAR1; GAR1 ribonucleoprotein homolog; GAR1
                     homolog, ribonucleoprotein"
                     /codon_start=1
                     /product="H/ACA ribonucleoprotein complex subunit 1"
                     /protein_id="NP_061856.1"
                     /db_xref="CCDS:CCDS34050.1"
                     /db_xref="GeneID:54433"
                     /db_xref="HGNC:HGNC:14264"
                     /db_xref="MIM:606468"
                     /translation="MSFRGGGRGGFNRGGGGGGFNRGGSSNHFRGGGGGGGGGNFRGG
                     GRGGFGRGGGRGGFNKGQDQGPPERVVLLGEFLHPCEDDIVCKCTTDENKVPYFNAPV
                     YLENKEQIGKVDEIFGQLRDFYFSVKLSENMKASSFKKLQKFYIDPYKLLPLQRFLPR
                     PPGEKGPPRGGGRGGRGGGRGGGGRGGGRGGGFRGGRGGGGGGFRGGRGGGFRGRGH"
     exon            270..424
                     /gene="GAR1"
                     /gene_synonym="NOLA1"
                     /inference="alignment:Splign:2.1.0"
     exon            425..484
                     /gene="GAR1"
                     /gene_synonym="NOLA1"
                     /inference="alignment:Splign:2.1.0"
     exon            485..626
                     /gene="GAR1"
                     /gene_synonym="NOLA1"
                     /inference="alignment:Splign:2.1.0"
     exon            627..695
                     /gene="GAR1"
                     /gene_synonym="NOLA1"
                     /inference="alignment:Splign:2.1.0"
     exon            696..1015
                     /gene="GAR1"
                     /gene_synonym="NOLA1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      993..998
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GAR1"
                     /gene_synonym="NOLA1"
                     /note="hexamer: AATAAA"
     polyA_site      1015
                     /gene="GAR1"
                     /gene_synonym="NOLA1"
                     /note="major polyA site"
ORIGIN      
        1 gggtgtgtgc gcaaggccag ggccagaggg gcacgtggcg ccgggaggag agagaatgtc
       61 ttttcgaggc ggaggtcgtg gaggctttaa tcgaggtggt ggaggtggcg gcttcaaccg
      121 aggtggcagc agcaaccact tccgaggtgg aggcggcggt ggaggcggcg gcaatttcag
      181 aggcggcggc aggggaggat ttggacgagg gggtggccgc ggaggcttta acaaaggcca
      241 agaccaagga cctccagaac gtgtagtctt attaggagag ttcctgcatc cctgtgaaga
      301 tgacatagtt tgtaaatgta ccacagatga aaataaggtg ccttatttca atgctcctgt
      361 ttacttagaa aacaaagaac aaattggaaa agtggatgaa atatttggac aactcagaga
      421 tttttatttt tcagttaagt tgtcagaaaa catgaaggct tcatccttta aaaaactaca
      481 gaagttttat atagacccat ataagctgct gccactgcag aggtttttac ctcgacctcc
      541 aggtgagaaa ggacctccaa gaggtggtgg caggggaggc cgaggaggag gaagaggagg
      601 aggtggcaga ggtggtggca gaggcggtgg ttttagaggt ggaagaggag gtggaggtgg
      661 gggcttcaga ggaggaagag gtggtggttt cagagggaga ggacattaag tgaaacagtt
      721 gacagacatc accagttgac ttctgcatta acctgcatga tctgtttcta ctatggattg
      781 gaaacttgtt tcttgaacaa gtcttgaaga tcttggtcat tttatgacaa tggatctaaa
      841 atgtcagcat catgcaaagt gcaacggaat agtgaatttt gctctaaaag agcatgaaca
      901 agtctttcta atgttttgta cagtgcctgg cactctgtgg gtgctcaata aatggatagg
      961 agttttcatt tgaagcatat ttgaattttt aaaataaagt gttttattcc cttaa
//
