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FLASH GENE
Symbol SON contributors: mct - updated : 18-10-2016
HGNC name SON DNA binding protein
HGNC id 11183
Corresponding disease
TOKIMS Tokita-Kim syndrome
Location 21q22.11      Physical location : 34.915.349 - 34.949.812
Synonym name
  • Bax antagonist selected in Saccharomyces 1
  • NRE-binding protein
    • Synonym symbol(s) DBP5, KIAA1019, C21orf50, FLJ21099, FLJ33914, BASS1, NREBP, SON3, BASS1, DBP-5, NREBP3, TOKIMS
    DNA
    TYPE functioning gene
    STRUCTURE 34.48 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure in mice
    MAPPING cloned Y linked N status confirmed
    Map cen - GART - SON - CRYZL1 - qter
    Authors Reymond (01)
    Physical map
    LOC391279 21 similar to putative taste receptor HTR2 SYNJ1 21q22.1-q22.2 synaptojanin 1 C21orf66 21q22.11 chromosome 21 open reading frame 66 C21orf62 21q22.1 chromosome 21 open reading frame 62 OLIG2 21q22.11 oligodendrocyte lineage transcription factor 2 C21orf54 21q22.11 chromosome 21 open reading frame 54 IFNAR2 21q22.1 interferon (alpha, beta and omega) receptor 2 IL10RB 21q22.1-q22.2 interleukin 10 receptor, beta IFNAR1 21q22.1 interferon (alpha, beta and omega) receptor 1 IFNGR2 21q22.1 interferon gamma receptor 2 (interferon gamma transducer 1) C21orf4 21q22.1-q22.2 chromosome 21 open reading frame 4 RPS5L 21q22.11 ribosomal protein S5-like C21orf55 21q22.11 chromosome 21 open reading frame 55 GART 21q22.1 phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase SON 21q22.1-q22.2 SON DNA binding protein DONSON 21q22.1 downstream neighbor of SON CRYZL1 21q22.1 crystallin, zeta (quinone reductase)-like 1 ITSN1 21q22.1-q22.2 intersectin 1 (SH3 domain protein) ATP5O 21q22.1-q22.2 ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit (oligomycin sensitivity conferring protein) LOC388819 21 similar to GNGT1 protein MRPS6 21q21.3-q22.1 mitochondrial ribosomal protein S6 SLC5A3 21q22.1 solute carrier family 5 (inositol transporters), member 3 C21orf82 21q22.1 chromosome 21 open reading frame 82 KCNE2 21q22.12 potassium voltage-gated channel, Isk-related family, member 2 C21orf51 21q22.12 chromosome 21 open reading frame 51
    RNA
    TRANSCRIPTS type messenger
    text alternatively spliced 5.7kb
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - splicing 8266 - 2386 - 2016 26990989
    7 splicing 7497 - 2303 - 2016 26990989
  • isoform B
  • 10AA (MDSQMLAA(ST)(S/N/G)(S/T)
    • 5 splicing 7903 - 2108 - 2016 26990989
    12 splicing 8412 - 2426 - 2016 26990989
  • isoform F
    • - splicing 7402 - 2140 - 2016 26990989
    11 - 2524 - 454 - 2016 26990989
    variant H
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Endocrineneuroendocrinepituitary  highly
     parathyroid   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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