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FLASH GENE
Symbol NXN contributors: npt/mct - updated : 14-12-2015
HGNC name nucleoredoxin
HGNC id 18008
Corresponding disease
RBNS5 Robinow syndrome 5
Location 17p13.3      Physical location : 702.585 - 883.010
Synonym symbol(s) FLJ12614, NRX, TRG-4
EC.number 1.8.1.8
DNA
TYPE functioning gene
STRUCTURE 180.45 kb     8 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 3004 - 435 - 2006 16604061
8 - 2681 - 327 - -
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • three TRX-like modules arranged as direct repeats of the classic TRX domain (Laughner 1998)
  • C-terminus is a non-TRX module that possesses C residues in the proper sequence context to form a Zn finger
    • HOMOLOGY
    Homologene
    FAMILY
  • nucleoredoxin family, thioredoxin (TRX) superfamily
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • negative regulator of the Wnt signaling pathway through Dishevelled (Dvl) (Funato 2006)
  • can inhibit Dvl-induced up-regulation of c-Jun phosphorylation (Funato 2008)
  • oxidative stress response protein, nucleoredoxin, which is highly expressed in the developing limb bud of mice
  • form a link between MYD88 and FLII to mediate negative regulation of the TLR4/MYD88 pathway
  • unexpected function of NXN, retaining a pool of inactive DVL for robust activation of WNT/CTNNB1 signaling upon Wnt stimulation
  • novel role of NXN in the regulation of PFKL activity and in the balance between glycolysis and the pentose phosphate pathway
  • likely acts as a novel proadipogenic factor and controls obesity
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction with protein phosphatase 2A (Lechward 2006)
  • NXN usually interacts with Dishevelled (DVL), an essential adaptor protein for Wnt signalling, and blocks the activation of the Wnt pathway
  • NXN is a substantial interacting partner of DVL1, particularly under oxidative conditions, often stimulated by growth factors
  • FLII is a novel NXN-binding partner (binds to NXN and other related proteins, such as Rod-derived cone viability factor (NXNL1)
  • NXN is an interaction partner of SEC63 (21251912)
  • NXN binds directly to PFKL
  • DVL2 no longer bound to NXN is now positioned to prime the Wnt pathway(s) required for primitive endoderm (PrE) formation
  • interaction of NXN and DVL may be a key regulatory mechanism to maintain a spatial or temporal balance between canonical and noncanonical Wnt pathways during development
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RBNS5
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Nxn-/- mouse models show abnormal craniofacial morphology with a shortened snout and cleft palate partially recapitulating the RS subjects’ phenotype