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FLASH GENE
Symbol NUP133 contributors: mct - updated : 25-09-2019
HGNC name nucleoporin 133kDa
HGNC id 18016
Corresponding disease
GAMOS8 Galloway-Mowat syndrome 8
Location 1q42.13      Physical location : 229.577.044 - 229.644.088
Synonym symbol(s) FLJ10814, RP5-1068B5.4, MGC21133, hNUP133, GAMOS8, NPHS18
DNA
TYPE functioning gene
STRUCTURE 67.04 kb     26 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned   linked   status
RNA
TRANSCRIPTS type
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
26 - 4170 - 1156 - 2007 17768364
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an N-terminal domain whose crystal structure reveals a seven-bladed beta-propeller, which although largely dispensable for nuclear pore complex assembly, is required for efficient anchoring of the dynein/dynactin complex to the nuclear envelope in prophase (
  • a C-terminal domain responsible for its interaction with its subcomplex through NUP107
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    intracellular,nuclear envelope,pore
    basic FUNCTION
  • with NUP107, form elongated structures that interact tightly via a compact interface in tail-to-tail fashion
  • major alpha-helical building blocks of the nuclear pore complex scaffold
  • is required for proper nuclear pore basket assembly and dynamics in embryonic stem cells
  • NUP133 and NUP153 play different roles in assembling the nuclear pore complex (NPC) on membrane fenestrations
  • likely required for proper glomerular structure and function
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • belongs to the Y-complex, a key component of the nuclear pore complex (NPC) scaffold
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with CENPF
  • NUP133 interacts with CENPF both at nuclear pores in prophase and at kinetochores in mitosis
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GAMOS8
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS