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FLASH GENE
Symbol GAR1 contributors: mct/npt - updated : 10-09-2021
HGNC name GAR1 ribonucleoprotein homolog (yeast)
HGNC id 14264
Location 4q25      Physical location : 110.736.665 - 110.745.891
Synonym name
  • nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs)
  • snoRNP protein GAR1
    • Synonym symbol(s) NOLA1, H/ACA
    DNA
    TYPE functioning gene
    STRUCTURE 9.23 kb     7 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 1280 22.22 217 ubiquitous Dragon (2000)
    7 - 1021 22.22 217 - Dragon (2000)
    ubiquitous
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines proliferating cells
    fluid/secretion
    at STAGE
    physiological period embryo
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two glycine- and arginine-rich domains
  • N and C terminal core domains
    • HOMOLOGY
    interspecies homolog to yeast S.cerevisiae Gar1p
    homolog to murine Nola1
    Homologene
    FAMILY
  • H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family
    • CATEGORY enzyme , RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,coiled bodies (Cajal)
    intracellular,nucleus,nucleolus
    text dense fibrillar component of nucleole and Cajal bodies
    basic FUNCTION
  • playing a role in rRNA production and pseudouridylation of pre rRNAs
  • involved in the assembly and metabolism of SnoRNPs in the SMN complex
  • dimethylarginine-modified box H/ACA small nucleolar ribonucleoprotein interacting with SMN proteins (interaction not enhanced by arginine dimethylation)(Whitehead 2002)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • telomerase complex, associating with NHP2, NOP10, DKC1, TERC, TERT
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • linked to RRP8 (Bousquet-Antonelli 2000)
  • interaction with SMN (SMN interaction requires the arginine- and glycine-rich domains of both fibrillarin and GAR1 and is defective in SMN mutants found in some SMA patients)(Pellizzoni 2001)
  • interaction with TERC (assembles not one but two sets of all four of the H/ACA RNP core proteins, dyskerin, NOP10, NHP2, and GAR1) (Egan 2010)
  • NOP10 and GAR1 stabilize CBF5 in its active conformation and this might likely also be true for guide-RNA dependent pseudouridine formation by CBF5
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS