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FLASH GENE
Symbol SMG9 contributors: mct - updated : 29-04-2016
HGNC name SMG9 nonsense mediated mRNA decay factor
HGNC id 25763
Corresponding disease
MCACC multiple congenital anomalies with cerebral and cardiac malformations
Location 19q13.31      Physical location : -
Genatlas name protein smg-9 homolog
Synonym name
  • hypothetical protein LOC56006
  • protein SMG9
  • chromosome 19 open reading frame 61
  • Synonym symbol(s) FLJ12886, DKFZp564H1322, F17127_1, C19orf61
    DNA
    TYPE functioning gene
    STRUCTURE 23.84 kb     14 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 2371 57.5 520 - 2011 20817927
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineadrenal gland    
    Lymphoid/Immunespleen    
    Nervousnerve    
    Reproductivemale systemtestis   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text umbilical cord
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an N-terminal 180 AA intrinsically disordered region (IDR)
  • a well-folded C-terminal domain
  • HOMOLOGY
    Homologene
    FAMILY
  • SMG9 family
  • CATEGORY unknown/unspecified
    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 (NMD)
  • has biological functions beyond SMG1C, as part of distinct SMG9-containing complexes
  • is required for normal human and murine development, most likely through a transcriptional regulatory role
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • part of a protein kinase complex, SMG1C, which consists of the SMG1 kinase, SMG8 and SMG9 , and this complex contributes to regulate NMD by recruiting UPF1 and UPF2 to distinct sites in the vicinity of the kinase domain
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • IQGAP1 protein, an actin cytoskeleton modifier acts as a binding partner with SMG9 and this binding is regulated by phosphorylation of SMG9 at Tyr-41
  • cell & other
    REGULATION
    Other tyrosine phosphorylation of SMG9 may play likely a role in the formation of the NMD complex in the cells stimulated by the growth factor
    ASSOCIATED DISORDERS
    corresponding disease(s) MCACC
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Smg9-/- mice have reduced viability and display major brain, eye, and cardiovascular malformations