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FLASH GENE
Symbol NXNL1 contributors: mct - updated : 11-12-2015
HGNC name nucleoredoxin-like 1
HGNC id 25179
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 948 23 212 - 2015 25415434
  • truncated form (RDCVF) that is a thioredoxin-like protein secreted by rods that promotes cone survival
  • RDCVF gene therapy has potential for treating retinal degenerative disease
  • - splicing - - - - 2015 25596499
  • thioredoxin enzyme that interacts with TAU
  • through the thioredoxin RdCVFL, NXNL1 is part of an endogenous defense mechanism against photooxidative stress that is likely of great importance for human vision
  • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain     Homo sapiens
    Visualeyeretina    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualbipolar cell Homo sapiens
    Visualrod photoreceptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    intraspecies paralog to NXNL2
    Homologene
    FAMILY
  • nucleoredoxin family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria,outer
    intracellular,cytoplasm,organelle,membrane
    intracellular,nucleus
    basic FUNCTION
  • thioredoxine-like protein bifunctional with an extracellular form involved in cone viability and the other having oxidoreductase activity
  • protects retinal cells from photooxidative damage-induced apoptosis via upregulation of NF-kappaB activity
  • trophic factor of the thioredoxins family that promotes the survival of cone photoreceptors
  • clock- and light-dependent regulations of NXNL1, NXNL2 that may be part of a protective shield against photooxidative damage
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting CHX2 (regulates NHNL1 promoter activity in the inner retina)
  • FLII is a novel NXN-binding partner (binds to NXN and other related proteins, such as Rod-derived cone viability factor (NXNL1)
  • interacting with MSRA (critical role in MSRA repair of essential lens proteins under oxidative stress conditions and NXNL1 is important for MSRA defense protection against cataract)
  • cell & other
    REGULATION
    induced by at high levels in lens epithelial cells exposed to H(2)O(2)-induced oxidative stress
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurosensorialvisualretina
    administration of NXNL1 would maintain cones and central vision in most patients suffering from RP
    neurosensorialvisual 
    therapeutic potential for the treatment of retinitis pigmentosa
    ANIMAL & CELL MODELS
    in the rd1 mouse, a model of RP, the expression by rods of the trophic factor NXNL1 is lost through their degeneration, but the reduction in its expression by bipolar cells results from a downregulation of its expression