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FLASH GENE
Symbol SMG8 contributors: mct - updated : 30-12-2020
HGNC name SMG8 nonsense mediated mRNA decay factor
HGNC id 25551
Corresponding disease
Location 17q22      Physical location : -
Genatlas name protein smg-8 homolog
Synonym name
  • amplified in breast cancer gene 2 protein
  • hypothetical protein LOC55181
  • chromosome 17 open reading frame 71
  • Synonym symbol(s) FLJ10587, C17orf71, ABC2
    DNA
    TYPE functioning gene
    STRUCTURE 5.24 kb     4 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 3283 109.7 991 - 2011 21245168
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • SMG8 family
  • CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • SMG8 and SMG9, two novel subunits of the SMG1 complex, regulate remodeling of the mRNA surveillance complex during nonsense-mediated mRNA decay
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SMG8 binding to the SMG1:SMG9 complex specifically down-regulates the kinase activity of SMG1 on UPF1 without contacting the catalytic domain
  • SMG8 is involved in the recruitment of inactive SMG1 to the SURF complex
  • SMG1C (a complex containing SMG1, SMG8, and SMG9) contributes to regulate NMD by recruiting UPF1 and UPF2 to distinct sites in the vicinity of the kinase domain
  • SMG8 and SMG9 interact with the SMG1 C-insertion and promote high-affinity UPF1 binding to SMG1-8-9, as well as decelerated SMG1 kinase activity and enhanced stringency of phosphorylation site selection
  • SMG8 and SMG9 act, in addition to serving as a scaffold for the interaction between SMG1 and UPF1, to negatively regulate SMG1 kinase activity and maintain UPF1 in the unphosphorylated (inactive) form within the SURF complex
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DDFMD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • appropriate target for inhibiting nonsense-mediated mRNA decay (NMD) to improve NMD-exacerbated mutant phenotypes
  • Therapy target
    ANIMAL & CELL MODELS