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FLASH GENE
Symbol SNURF contributors: mct - updated : 18-08-2010
HGNC name SNRPN upstream reading frame
HGNC id 11171
Location 15q11.2      Physical location : 25.200.069 - 25.223.729
DNA
TYPE functioning gene
STRUCTURE 26.02 kb     10 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map cen - MKRN3 - MAGEL2 - NDN - SNURF - SNRPN - HBII-436 - HBII-13 - HBII-437 - HBII-438A - IPW - HBII-52 - UBE3A - ATP10A - qter
Authors Runte (01)
Physical map
C15orf2 15q11-q13 chromosome 15 open reading frame 2 SNRPN 15q11.2-q12 small nuclear ribonucleoprotein polypeptide N SNURF 15q12 SNRPN upstream reading frame HBII-436 15q11.2 HBII-436 C/D box snoRNA PAR-SN 15q11.2 paternally expressed transcript PAR-SN PAR5 15q11-q13 paternally expressed transcript PAR-SN HBII-13 15q12 HBII-13 snoRNA HBII-437 15q11.2 HBII-437 C/D box snoRNA HBII-438A 15q11.2 HBII-438A C/D box snoRNA PWCR1 15q11.2 Prader-Willi syndrome chromosome region 1 X102 15q11.2 X102 protein IPW 15q11.2-q12 imprinted in Prader-Willi syndrome PAR1 15q11-q13 imprinted in Prader-Willi syndrome HBII-52 15q11.2 HBII-52 snoRNA PAR4 15q11.2 PAR4 gene HBII-438B 15q11.2 HBII-438B C/D box snoRNA UBE3A 15q11-q12 ubiquitin protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome) ATP10A 15q11-q13 ATPase, Class V, type 10A
regionally located . SNURF–SNRPN locus spans more than 460 kb and contains at least 148 exons (Kishore 2010) . large 3'-UTR region of the SNURF–SNRPN locus harbors clusters of the C/D box snoRNAs HBII-85 and HBII-52 that are present in 24 and 47 copies, respectively (Kishore 2010)
RNA
TRANSCRIPTS type messenger
text utilizes the first three exons of the transcript SNRPN, a region that has been identified as an imprinting center
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
10 splicing 1326 8.4 71 - Rokeach, Rodriguez-Jato (2005)
  • includes exons 1-10 in a bicistronic transcript that also contains a downstream open reading frame for the SNRPN gene
  • 4 splicing 437 - 71 - Rokeach, Rodriguez-Jato (2005)
  • includes exons 1-3 and alternative exon 3b (exon 3b has a polyA signal and site and its inclusion results in a truncated, monocistronic transcript)
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text brain
    IMPRINTING maternally
    text
  • paternally expressed
  • SNURF–SNRPN pre-mRNA is expressed only from the paternal allele (Kishore 2010)
  • PROTEIN
    PHYSICAL PROPERTIES basic
    STRUCTURE
    motifs/domains
  • Sm domain
  • HOMOLOGY
    interspecies homolog to murine Snurf
    Homologene
    FAMILY
  • SNURF family
  • CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleolus
    basic FUNCTION unknown
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding to a nuclear matrix attachment (MAR) sequence
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    mapped within the commonly deleted PWS/AS region
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS