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FLASH GENE
Symbol NPAP1 contributors: npt/mct - updated : 26-10-2016
HGNC name nuclear pore associated protein 1
HGNC id 1190
Location 15q11.2      Physical location : -
Synonym name
  • chromosome 15 open reading frame2, biallelic expression (testis specific)
  • hypothetical protein LOC23742
  • chromosome 15 open reading frame 2
  • Synonym symbol(s) C15orf2
    DNA
    TYPE functioning gene
    STRUCTURE 8.05 kb     1 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - NIPA1 - NIPA2 - TUBGCP5 - MKRN3 - MAGEL2 - NDN - PWRN2 - PWRN1 - C15orf2 - SNURF /SNRPN - IPW - UBE3A - ATP10A - GABRB3 - GABRA5 - GABRG3 - qter
    Authors Buiting (07)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 8053 121 1156 - 2014 24482533
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbraindiencephalonhypothalamus   Homo sapiens
    Reproductivefemale systemovary   
     male systemtestis  specific
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    IMPRINTING maternally
    text monoallelic expression in fetal brain (paternally expressed in human fetal brain)
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six nuclear localisation sequences
  • HOMOLOGY
    intraspecies paralog to NPAP1L
    Homologene
    FAMILY
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nuclear envelope,int
    intracellular,nuclear envelope,pore
    text
  • is present at the nuclear periphery, where it colocalizes with nuclear pore complex (NPC) and nuclear lamins, at the inner face of the nuclear envelope
  • basic FUNCTION
  • involved in spermatogenesis
  • potential nuclear envelope-associated function of NPAP1
  • nuclear pore-associated protein, originating from the vertebrate nucleoporin gene POM121 and--after several steps of retrotransposition and duplication-has been subjected to genomic imprinting and positive selection after integration into the imprinted SNRPN-UBE3A chromosomal domain
  • CELLULAR PROCESS
    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    
    mapped within the commonly deleted PWS/AS region
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS