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FLASH GENE
Symbol NRL contributors: mct/shn/pgu - updated : 05-04-2016
HGNC name neural retina leucine zipper
HGNC id 8002
RNA
TRANSCRIPTS type messenger
text multiple phosphorylated isoforms of NRL in rod photoreceptors (PMID: 12566383)
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 1974 - 237 - 2003 12566383
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Visualeyeretina  specific
cells
SystemCellPubmedSpeciesStageRna symbol
Visualamacrine cell
Visualbipolar cell
Visualcone photoreceptor
Visualganglion cell
Visualhorizontal association cell
VisualMuller cell
Visualrod photoreceptor
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a MTD (inimal transcription domain) N terminal domain, playing an important role in assembling the transcription initiation complex
  • a basic leucine zipper (bZIP) domains
  • a minimal transactivation domain (MTD)
  • HOMOLOGY
    interspecies ortholog to Nrl, Mus musculus
    ortholog to Nrl, Rattus norvegicus
    ortholog to NRL, Pan troglodytes
    ortholog to nrl, Danio rerio
    Homologene
    FAMILY
  • Maf-Nrl subfamily of bZIP transcription factors
  • Maf-family leucine zipper transcription factor
  • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • regulator of photoceptor development and function
  • signaling by RA via RA receptors regulates the expression of NRL, providing a framework for delineating early steps in photoreceptor cell fate determination
  • regulator of rhodopsin expression synergistically with Crx
  • basic motif leucine zipper transcription factor that regulates the expression of several rod-specific genes, including rhodopsin and cGMP phosphodiesterase beta-subunit, in synergy with other transcription factors
  • regulates the expression of several rod-specific genes such as rhodopsin and cGMP phosphodiesterase beta-subunit
  • is essential for rod photoreceptor specification in the mammalian retina as its loss of function converts rod precursors to functional cones
  • critical for rod versus cone photoreceptor cell fate choice during retinal development and acts as a molecular switch to produce rods from postmitotic precursors
  • essential transcription factor for cell fate specification and functional maintenance of rod photoreceptors in the mammalian retina
  • is a critical determinant of rod photoreceptor cell fate and a key regulator of rod differentiation
  • transcription factor, modulating rod photoreceptor differentiation by activating rod-specific target genes
  • activated rhodopsin and PPP2R5C transcription by recruiting KAT5 to promote histone H3/H4 acetylation
  • is essential for rod photoreceptor development and functional maintenance in the mammalian retina
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
    INTERACTION
    DNA induces rhodopsin promoter activity
    RNA
    small molecule other,
  • signaling by RA via RA receptors regulates the expression of NRL, providing a framework for delineating early steps in photoreceptor cell fate determination
  • protein
  • CRX homeodomain
  • NRL and NR2E3 have overlapping functions, and NRL binds to a sequence element in the NR2E3 promoter and enhances its activity synergistically with the homeodomain protein CRX
  • PPP2R5C expression is regulated by NRL during retinogenesis through direct binding to the promoter region of PPP2R5C
  • direct transcriptional target of RORB, suggesting that combinatorial action of multiple regulatory factors modulates the expression of NRL in developing and mature retina
  • CRX, OTX2, and cyclic AMP response element-binding protein (CREB) are implicated in modulating NRL expression
  • MEF2C expression from an alternative promoter in the retina is regulated by NRL
  • interactions of NRL with c-Jun N-terminal kinase 1 (MAPK8) and HIV Tat-interacting protein 60 (KAT5)
  • NRL is the first OPTN-binding protein to show eye-specific expression
  • OTX2 maintains NRL expression in developing rods to consolidate rod fate
  • KCNV2 is controlled by cone-rod homeobox (CRX) and neural retina leucine zipper (NRL)
  • NRL binding within the REEP6 intron 1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RP27
    related resource Retinal Information Network
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurosensorialvisualretina
    identification of a small NRL promoter/enhancer sequence of <0.3 kb that can specifically direct the target gene to both developing and mature rod photoreceptors should be of interest in the design of adeno-associated virus-based therapies for retinal dis
    ANIMAL & CELL MODELS
  • deletion of Nrl in mice results in the complete loss of rod function and super-normal cone function, retina have cone-like nuclear morphology and short, sparse outer segments with abnormal disks
  • Loss of Nrl in mouse leads to a cone-only retina
  • in the Nrl(-/-) mouse retina, photoreceptor precursors fail to produce rods and generate functional cone photoreceptors that predominantly express S-opsin
  • loss of Nrl in mice leads to a cone-only retina with the complete absence of rods