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FLASH GENE
Symbol SNRPN contributors: mct - updated : 18-08-2010
HGNC name small nuclear ribonucleoprotein polypeptide N
HGNC id 11164
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervouscentral   
cell lineage
cell lines
fluid/secretion
at STAGE
IMPRINTING maternally
text
  • only paternal allele expressed in fetal brain and heart
  • SNURF–SNRPN pre-mRNA is expressed only from the paternal allele (Kishore 2010)
    • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • proline rich extensin domain
    • conjugated RiboP
    HOMOLOGY
    interspecies homolog to murine Surpin
    Homologene
    FAMILY
  • Sur up Smb/Smn family
    • CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • playing a role in maternal imprinting may be dependent or facilitated by the presence of a nuclear matrix attachment region (MAR)
  • containing a promoter region playing a critical role in the initiation of imprint switching during spermatogenesis
  • time-dependent demethylated during the process of postovulatory aging in oocytes (Liang 2008)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PWS , DUP15QP
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    hypermethylated in benign ovarian teratoma and germ cell tumor
    constitutional   deletion    
    in Prader-Willi syndrome
    tumoral     --low  
    by hypermethylation in acute myeloid leukemia and myelodysplastic syndromes (Benetatos 2010)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS