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FLASH GENE
Symbol SMNDC1 contributors: mct - updated : 30-04-2017
HGNC name survival motor neuron domain containing 1
HGNC id 16900
Location 10q25.2      Physical location : 112.052.798 - 112.064.707
Synonym name
  • splicing factor 30, survival of motor neuron-related
  • 30 kDa splicing factor SMNrp
  • Synonym symbol(s) SPF30, SMNR
    DNA
    TYPE functioning gene
    STRUCTURE 11.91 kb     6 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 2043 - 238 - Talbot (1998)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   lowly
    Digestiveliver    
    Endocrinepancreas   lowly
    Nervousbrain    
     spinal cord    
    Reproductivefemale systemplacenta   
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a bipartite nuclear localization signal
  • Tudor domains bound to symmetric and asymmetric dimethylated arginine (DMA) that is inherent in the RNP complexes (PMID;
  • mono polymer complex
    HOMOLOGY
    interspecies homolog to murine 241004J23Rik
    homolog to rattus LOC287768
    intraspecies paralog to SMN
    Homologene
    FAMILY
  • SMN family
  • CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    basic FUNCTION
  • necessary for spliceosome assembly and nuclear mRNA splicing, by entering the pre-spliceosome in association with 17S U2 snRNP and mediating the assembly of the mature spliceosome
  • essential splicing factor, U2 snRNP-associated protein, facilitating the recruitment of the [U4/U6.U5] tri-snRNP to the pre-spliceosome (Meister 2001)
  • inducing apoptosis in a dose-dependent manner
  • have the potential to mediate the addition of the tri-snRNP to the prespliceosome (Little 2008)
  • SPF30 and its partner-interacting domains are not conserved in yeast, suggesting this interaction network may play an important role in the complex splicing observed in higher eukaryotes (Little 2008)
  • is a pre-mRNA splicing factor harboring a Tudor domain in its central region, which regulates various cellular events by binding to dimethylarginine-modified proteins
  • SMNDC1 collaborates with the MTREX-exosome machinery to play a functional role in multiple RNA metabolic pathways, some of which may be regulated by the ATP hydrolysis of NVL
  • CELLULAR PROCESS cell life, cell death/apoptosis
    nucleotide, RNA splicing
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the pre-spliceosome (complex A) and the mature spliceosome (complex B)
  • INTERACTION
    DNA
    RNA associating with U4/U5/U6 tri-snRNP and with 17S U2 snRNP
    small molecule
    protein
  • interaction between the N-terminal domain of SPF30 and U2AF1, a prespliceosome protein that has a role in recognizing the 3' splice site and recruiting U2 snRNP (Little 2008)
  • interaction between SMNDC1 and the exosome core is mediated by MTREX and EXOSC10, a catalytic component of the nuclear exosome
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS