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FLASH GENE
Symbol NUP88 contributors: mct/npt/pgu - updated : 06-07-2010
HGNC name nucleoporin 88kDa
HGNC id 8067
Location 17p13.2      Physical location : 5.289.419 - 5.322.996
Synonym name
  • nuclear pore complex protein 88
  • karyoporin
    • Synonym symbol(s) MGC8530
    DNA
    TYPE functioning gene
    STRUCTURE 33.58 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map pter - C1QBP - D17S2014 - NUP88 ,D17S1662 - D17S938 - cen
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 polyA site 2381 85 741 - 1997 9049309
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis  highly
    Urinarykidneynephronrenal capsule  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • coiled-coil domain, an interaction domain often founded in NPC proteins
    • HOMOLOGY
    interspecies homolog to murine Prei2
    Homologene
    FAMILY Ezrin/radixin/moesin family
    CATEGORY structural protein , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    intracellular,nuclear envelope,pore
    text
  • localized on the spindles together with NUP214 during mitosis
  • localizes to the cytoplasmic and nuclear face of the nuclear pore complexes (
    • basic FUNCTION
  • having a dichotomous role in non-neoplastic and neoplastic conditions of the liver
  • its proper expression is critical for preventing aneuploidy formation and tumorigenesis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text birectional nucleocytoplastic transport
    PATHWAY
    metabolism
    signaling
    a component
  • nuclear pore complex
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding CAN/NUP214 and XPO1 (CRM1)
  • requested for NPC location
  • interacting with NFAT5 (up-regulated in response to hypertonic stress and acts to retain NFAT5 in the nucleus, activating transcription of critical osmoprotective genes)
  • binds lamin A (interaction is mediated by the N-terminus of NUP88, and NUP88 specifically binds the tail domain of lamin A but not of lamins B1 and B2)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in response to osmotic stress in inner medullary collecting duct (IMCD3) cells
    constitutional     --over  
    enhanced multinucleated cell formation
    tumoral     --over  
    in high-grade cervical intraepithelial neoplasia (CIN1) lesions and invasive squamous cell carcinoma compared with normal ectocervical squamous epithelia and CIN1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS