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FLASH GENE
Symbol NYX contributors: mct/shn - updated : 31-10-2012
HGNC name nyctalopin
HGNC id 8082
Corresponding disease
CSNB1A blindness night congenital, stationary 1A
Location Xp11.4      Physical location : 41.306.712 - 41.334.905
Synonym name
  • leucine-rich proteoglycan, nyctalopin
  • leucine-rich repeat protein
    • Synonym symbol(s) CLRP, CSNB1, MGC138447, CSNB4, CSNB1A, NBM1
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    STRUCTURE 28.19 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map pter - DXS1056 - DXS993 - NYX - DXS1207 - DXS1201 - cen
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 2629 - 481 - 2005 15905181
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Urinarykidney   predominantly Homo sapiensNM_022567
    Visualeyeretina  predominantly Homo sapiensNM_022567
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualamacrine cell Homo sapiensNM_022567
    Visualbipolar cell Homo sapiensNM_022567
    Visualcone photoreceptor Homo sapiensNM_022567
    Visualganglion cell Homo sapiensNM_022567
    Visualrod photoreceptor Homo sapiensNM_022567
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an N-terminal endoplasmic reticulum (ER) signaling sequence
  • eleven leucine-rich repeats flanked both at N and C termini by cysteine-rich LRR repeats
  • five sequences for glycosylation
  • a C-terminal glycosylphosphatidylinositol (GPI) anchor
    • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to Nyx, Mus musculus
    ortholog to Nyx, Rattus norvegicus
    ortholog to nyx, Danio rerio
    ortholog to NYX, Pan troglodytes
    Homologene
    FAMILY small leucine rich proteoglycan family
    CATEGORY adhesion
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    text
  • extracellular GPI-anchored LSRP
  • in the outer plexiform layer, the site of the photoreceptor to bipolar cell synapses
    • basic FUNCTION
  • putatively required for establishing or maintening functional contracts between rod phosphoreceptors and post synaptic neurons
  • presence on the surface of the cell rather than the mechanism of anchoring crucial to its function
  • playing a role in synaptic transmission and/or synapse formation at ribbon synapses in the retina
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text axon guidance
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • TRPM1 forms complexes with NYX and accumulates in postsynaptic compartment of ON-bipolar neurons in GRM6-dependent manner
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • TRPM1 and mGluR6
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CSNB1A
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    mouse mutant nob has a 85-bp deletion in nyx gene leading to complete form of human X-linked congenital stationary night blindness