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FLASH GENE
Symbol NUP188 contributors: mct - updated : 14-12-2017
HGNC name nucleoporin 188kDa
HGNC id 17859
Corresponding disease
DSMOBA developmental syndrome with microcephaly, ocular and brain anomalies
Location 9q34.11      Physical location : 131.709.976 - 131.769.374
Synonym name
  • KIAA0169 protein
  • nucleoporin NUP188 homolog
  • Synonym symbol(s) KIAA0169, FLJ21639
    DNA
    TYPE functioning gene
    STRUCTURE 59.40 kb     44 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    44 - 5689 196 1749 - 2000 11029043
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • both the middle and the C-terminal regions were required for chromosome alignment
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,nucleus
    intracellular,nuclear envelope,pore
    text
  • localization of endogenous NUP188/NUP93 at cilia bases, supporting their direct role at cilia
  • localizes to spindle poles during mitosis, through the C-terminal region of NUP188
  • basic FUNCTION
  • controls passage of membrane proteins across the nuclear pore complex
  • associated with cellular functions, including ciliogenesis, chromatin organization, transcriptional regulation, and chromosome segregation
  • in NUP188-depleted mitotic cells, chromosomes fail to align to the metaphase plate, which causes mitotic arrest due to the spindle assembly checkpoint
  • NUP188 promotes chromosome alignment through K-fiber formation and recruitment of NUMA1 to spindle poles
  • nucleoporin NUP93 assisted by its interactors NUP188 and NUP205 mediates the repression of HOXA gene expression
  • potential role of NUP188 in dendritic development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • NUP93-NUP188-NUP205 complex binds indirectly via the N-acetylglucosamine-modified nucleoporins
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NUP188 interacts with NUMA1, which plays an instrumental role in focusing microtubules at centrosomes, and NUMA1 localization to spindle poles is perturbed in NUP188-depleted cells (pMID: 23551833)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DSMOBA
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • NUP37, NUP43, and NUP188 are novel candidate genes for cardiovascular disease
  • Marker
    Therapy target
    ANIMAL & CELL MODELS