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FLASH GENE
Symbol NSUN5 contributors: mct - updated : 12-6-2009
HGNC name NOL1/NOP2/Sun domain family, member 5
HGNC id 16385
Location 7q11.23      Physical location : 72.716.513 - 72.722.864
Synonym name
  • Williams Beuren syndrome chromosome region 20A
  • Williams-Beuren syndrome critical region protein 20 copy A
  • NOL1/NOP2/sun gene family member
  • Synonym symbol(s) WBMT, NOL1R, WBSCR20, WBSCR20A, p120 (NOL1), FLJ10267, MGC986, NSUN5A, Ynl022cL
    EC.number 2.1.1.-
    DNA
    TYPE functioning gene
    STRUCTURE 6.35 kb     10 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - D7S1776 - D7S2323 - D7S1778 - D7S16333 - NSUN5 - D7S489 - FZD9 - D7S2476 - MLXIPL - WBSCR22 - D7S1624 - STX1A - D7S613 - D7S1465 - D7S2233 - D7S1870 - D7S2308 - D7S2175 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 splicing 2376 50.7 466 heart, muscle, kidney 2002 12073013
    9 splicing 2446 46.7 429 ubiquitous, brain, stomach, fetal, lung 2002 12073013
  • having an additional segment in the 3' terminal sequence compared to NM_148956, which causes a frameshift and immediate translation termination
  • 10 - 2371 - 470 - -
    9 - 2332 - 391 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal   Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • NOL1/NOP2/sun family domain
  • HOMOLOGY
    interspecies homolog to C.elegans R10h10.1
    intraspecies homolog to NOL1, proliferation nucleolar antigen
    Homologene
    FAMILY
  • NOL1/NOP2/sun family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • NOL1/NOP2/sun domain-containing proteins
  • involved in the control of cell cycle, rRNA processing or assembly of ribosomes
  • flanks the WBS deletion at the telomeric side
  • CELLULAR PROCESS cell cycle
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in Williams-Beuren syndrome
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS