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FLASH GENE
Symbol NUP93 contributors: mct - updated : 13-12-2017
HGNC name nucleoporin 93kDa
HGNC id 28958
Corresponding disease
NPHS12 nephrotic syndrome, type 12
Location 16q13      Physical location : 56.764.016 - 56.878.676
Synonym name
  • hypothetical protein KIAA0095
  • nuclear pore complex protein Nup93
    • Synonym symbol(s) KIAA0095, MGC21106, NIC96
    DNA
    TYPE functioning gene
    STRUCTURE 114.85 kb     22 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 - 2876 - 696 - 2016 26878725
    22 - 2922 93 819 - 2016 26878725
    20 - 2927 - 696 - 2016 26878725
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • nucleoporin interacting component (NIC) family
    • CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    intracellular,nuclear envelope,pore
    text localized at the nuclear basket and at or near the nuclear entry to the gated channel of the pore
  • localization of endogenous NUP188/NUP93 at cilia bases, supporting their direct role at cilia
    • basic FUNCTION
  • forms a complex with NUP205 and is required for correct nuclear pore assembly
  • NUP93, and NUP205, are scaffold nucleoporins considered important for the overall integrity of the nuclear pore complex (NPC) but not known to have cargo-specific functions
  • having a role in supporting SMAD nuclear import that are separate from their previously assigned functions in nuclear pore complex assembly
  • essential for Nuclear pore complexes (NPCs) assembly and connects both portions of the NPC
  • is required for the additional recruitment of the NUP62 complex and the establishment of transport-competent NPCs
  • its essential function in nuclear pore complex assembly is likely a linker between the nuclear membrane and the central part of the pore and its various roles in nuclear transport processes and beyond
  • nucleoporin NUP93 assisted by its interactors NUP188 and NUP205 mediates the repression of HOXA gene expression
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • NUP93 complex, is a major structural component linking the nuclear pore complex to the membranes of the nuclear envelope
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • only two of more than 20 nuclear pore core structure components, namely NUP93 and NUP98, are caspase targets
  • potential functional link between TMEM48 and the soluble nucleoporins NUP93, NUP35, and NUP205
  • interact with NUP93, NUP35 and NUP205
  • negative regulatory loop within the nuclear pore complex (NPC) controlling the chromatin attachment state, in which NUP155 and NUP93 recruit NUP62 to suppress chromatin tethering by NUP155
  • potential role for NUP93 in tethering and repressing the HOXA gene cluster
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NPHS12
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --other  
    alterations in specific proteins (NDC1, NUP160, NUP153 and NUP93) in ischaemic and dilated human heart
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS