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FLASH GENE
Symbol SON contributors: mct - updated : 18-10-2016
HGNC name SON DNA binding protein
HGNC id 11183
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • three groups of repeats reactivated 31 times starting with the tripeptide ELP,
  • an alternating serine/arginine (S/R) repeat at the C terminus
  • 1 DRBM (double-stranded RNA-binding) domain
  • a G-patch domain
    • HOMOLOGY
    intraspecies homolog to c-mos
    Homologene
    FAMILY
    CATEGORY DNA associated , RNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    text
  • DNA- and RNA-binding protein primarily localized to nuclear speckles
    • basic FUNCTION
  • may be involved in pre-mRNA splicing
  • repressing hepatitis B virus (hbv) core promoter activity and transcription of hbv genes
    • and production of hbv virions
  • spliceosome-associated factor required for mitotic progression
  • has a novel role in maintaining proper nuclear organization of pre-mRNA processing factors in nuclear speckles
  • essential for appropriate subnuclear organization of pre-mRNA splicing factors and for promoting normal cell cycle progression
  • large Ser/Arg (SR)-related protein, is a splicing cofactor contributing to efficient splicing of cell-cycle regulators
  • facilitates the interaction of Ser/Arg proteins with RNA polymerase II and other key spliceosome components, suggesting its function in efficient cotranscriptional RNA processing
  • plays a critical role in the proliferation, survival, and tumorigenicity of pancreatic cancer cells
  • SON-mediated splicing is required for proper processing of selective transcripts related to cell cycle, microtubules, centrosome maintenance, and genome stability
  • is an emerging player in gene regulation during cancer development and progression
  • RNA splicing factor, controls MLL complex-mediated transcriptional initiation
  • influence cell-cycle progression, genomic integrity, and maintenance of pluripotency in stem cell populations
  • is a master regulator governing neurodevelopment and demonstrate the importance of SON-mediated RNA splicing in human development
    • CELLULAR PROCESS nucleotide, chromatin organization, remodeling
    nucleotide, transcription, maturation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of spliceosome that plays pleiotropic roles during mitotic progression
    • INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • regulates the proper splicing of transcripts encoding for pluripotency regulators such as POU5F1, PRDM14, E4F1 and MED24
  • binds to DNA near transcription start sites, interacts with menin, and inhibits MLL complex assembly, resulting in decreased H3K4me3 and transcriptional repression ( :
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) TOKIMS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in acute megakaryoblastic leukemia of Down syndrome
    constitutional     --low  
    leads to severe impairment of spindle pole separation, microtubule dynamics, and genome integrity
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • short SON overexpression is a marker indicating aberrant transcriptional initiation in leukemia
    • Therapy target
    SystemTypeDisorderPubmed
    cancerdigestivepancreas
    is a novel therapeutic molecular target for pancreatic cancer
    ANIMAL & CELL MODELS