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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
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