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FLASH GENE
Symbol SMG6 contributors: mct - updated : 17-01-2024
HGNC name Smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)
HGNC id 17809
Location 17p13.3      Physical location : 1.963.132 - 2.207.069
Synonym name
  • cDNA sequence, expressed in brain
  • chromosome 17 open reading frame 31
  • EST1 telomerase component homolog A (S. cerevisiae)
  • telomerase subunit EST1A
  • Smg-6 homolog, nonsense mediated mRNA decay factor
    • Synonym symbol(s) KIAA0732, C17orf31, EST1A, SMG-6, hSMG5/7a, FLJ35688
    EC.number 3.1.-.-
    DNA
    TYPE functioning gene
    STRUCTURE 243.95 kb     19 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 3241 - 511 - 2018 29363864
    19 - 5974 - 1419 - 2018 29363864
    12 - 3466 - 511 - 2018 29363864
    6 - 4239 - 330 - 2018 29363864
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a C-terminal PIN domain (Glavan 2006)
    • HOMOLOGY
    interspecies homolog to murine Smg6 (90.9pc)
    homolog to Rattus Smg6 (91.4pc)
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • promoting endonucleolytic cleavage of non-sense mRNA (Eberle 2009)
  • molecular link between telomeric repeat-containing RNA regulation and the maintenance of telomere integrity (Azzalin 2007)
  • SMG5-SMG7 and SMG6 exhibit different and non-overlapping modes of UPF1 recognition, thus pointing at distinguished roles in integrating the complex NMD interaction network
  • degradation of NMD target mRNAs involves both exonucleolytic and endonucleolytic pathways in mammalian cells, and the latter is mediated by the endonuclease SMG6
  • loss of the first SMG5-SMG7-dependent pathway also inactivates the second SMG6-dependent branch, indicating an unexpected functional connection between the final NMD steps
  • is an endonuclease, which cleaves mRNAs during nonsense-mediated mRNA decay (NMD), thereby regulating gene expression and controling mRNA quality
  • is a differentiation license factor of totipotent embryonic stem cells
  • SMG6 is an essential regulator of the male germline transcriptome
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA telomeric DNA binding
    RNA
    small molecule metal binding,
  • ions Mn2+ binding
    • protein
  • associated with most or all active telomerase and is involved either directly or indirectly in telomere elongation and telomere capping (Takeshita 2006)
  • physically interacting with the chromosome end replication enzyme telomerase (Redon, 2007)
  • endonuclease SMG6, which cleaves mRNA near the premature translation-termination codons (PTCs), is one of the three known NMD factors thought to be recruited to nonsense mRNAs via an interaction with P-UPF1, leading to eventual mRNA degradation
  • DLX1 and DLX2 were reduced after SMG6 deletion
    • cell & other
  • interacts directly with the EJC (exon junction complex ) via two conserved EJC-binding motifs (
    • REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS