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FLASH GENE
Symbol NUP205 contributors: mct - updated : 13-12-2017
HGNC name nucleoporin 205kDa
HGNC id 18658
Corresponding disease
NPHS13 nephrotic syndrome, type 13
Location 7q33      Physical location : 135.242.661 - 135.333.489
Synonym name chromosome 7 open reading frame 14
Synonym symbol(s) KIAA0225, C7orf14, NPHS13
DNA
TYPE functioning gene
STRUCTURE 90.84 kb     43 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
43 - 6286 205 2012 - 2016 26878725
- - 6297 - 1654 - 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
interspecies homolog to murine Nup205
Homologene
FAMILY
CATEGORY motor/contractile , transport
SUBCELLULAR LOCALIZATION     intracellular
intracellular,nucleus
intracellular,nuclear envelope,pore
basic FUNCTION
  • forms a complex with NUP93 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
  • critical function for nuclear envelope protein TMEM209 in human pulmonary carcinogenesis
  • both TMEM209 and NUP205 are likely to be cancer testis antigens
  • TMEM209 and NUP205 are involved in regulation of the nuclear transport of MYC
  • 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
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • potential functional link between TMEM48 and the soluble nucleoporins NUP93, NUP35, and NUP205
  • nucleoporin protein NUP205 is a TMEM209-interacting protein, stabilizing NUP205 and increasing the level of MYC in the nucleus
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NPHS13
    Susceptibility to Paget disease of bone (PDB)
    Variant & Polymorphism other
  • rs4294134 strongly associated with PDB
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS