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FLASH GENE
Symbol AIPL1 contributors: shn/pgu - updated : 18-10-2019
HGNC name aryl hydrocarbon receptor interacting protein-like 1
HGNC id 359
Corresponding disease
LCA4 Leber congenital amaurosis, type 4
Location 17p13.2      Physical location : 6.327.059 - 6.338.519
Synonym symbol(s) AIPL2
DNA
TYPE functioning gene
STRUCTURE 11.40 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map pter - D17S938 - D17S796 - AIPL1 - D17S1881 - D17S960 - cen
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 2981 43 384 restricted to rod photoreceptors in adult retina and pineal 2002 11929855
5 - 2792 - 321 - -
5 - 2801 - 324 - -
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbraindiencephalonepithalamuspineal glandhighly
Visualeyeretina  specific
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier liningretinal pigment epithelium (RPE)  
cells
SystemCellPubmedSpeciesStageRna symbol
Visualcone photoreceptor
Visualrod photoreceptor
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, fetal
Text expressed in the central and
peripheral retina, which coincides with rod and cone photoreceptor
development
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • three tetratricopeptide (TPR) motifs
  • one PPIase FKBP-type domain
  • HOMOLOGY
    interspecies ortholog to Aipl1, Mus musculus
    ortholog to Aipl1, Rattus norvegicus
    ortholog to AIPL1, Pan troglodytes
    Homologene
    FAMILY
  • FK-506-binding protein family
  • CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • important for appropriate photoreceptor formation during development and/or survival following differentiation
  • playing an essential role in processing of farnesylated proteins in retina
  • enhances the stability of cGMP phosphodiesterase and is essential for photoreceptor viability
  • a specialized chaperone required for rod phosphodiesterase biosynthesis
  • required for the normal accumulation of cone phosphodiesterase
  • plays a direct role in cones and is needed for a proper light response from cone photoreceptor cells
  • needed for the proper functioning and survival of cone photoreceptors
  • may have a role in directly regulating the UBD conjugation machinery
  • CELLULAR PROCESS protein, post translation, folding
    PHYSIOLOGICAL PROCESS
    text nuclear-cytoplasmic transport
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NEDD8 Ultimate Buster 1, NUB1
  • farnesylated proteins
  • interacting with HSP90 and HSP70 (specialized role of AIPL1 in photoreceptors may be modulated by the molecular chaperones Hsp90 and Hsp70, and this association may be important in the pathogenesis of LCA)
  • interacting with PDE6A and is needed for the proper assembly of functional rod PDE6 subunits
  • AIPL1 interact with NUB1, which facilitates the proteasomal degradation of proteins modified with the ubiquitin-like protein UBD
  • NEUROD1 may act through AIPL1 and other genes to maintain photoreceptor homeostasis
  • ZP3 regulates AKT1 phosphorylation, lamin binding to the nuclear membrane via AIPL1, and organization of the actin cytoskeleton via DIAPH2
  • AIPL1 was unexpectedly capable of inducing the maturation of unprenylated cone PDE6C, whereas mutant AIPL1 deficient in prenyl binding competently cochaperoned prenylated PDE6C
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LCA4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    juvenile RP or cone-rod dystrophy
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurosensorialvisualretina
    . strong and stable rescue retinal degeneration in Aipl1 null and Aipl1 hypomorphic (Aipl1hypo) mutant mice using AAV8 vector containing the human RK promoter, which is only active in both types of photoreceptors
    ANIMAL & CELL MODELS
  • Aipl1-/- mice have highly disorganized, short, fragmented photoreceptor outer segments and lack both rod and cone electroretinogram responses
  • knockdown of AIPL1 expression in mice produces a retinopathy with a reduction in the level of rod cGMP phosphodiesterase expression
  • Aipl1-/- mouse displays rapid retinal degeneration and massive Müler cell gliosis
  • mouse with rods expressing lowered amounts of AIPL1 delayed the photoresponse, decreased its amplification constant, slowed a rate-limiting step in its recovery, and limited the light-induced decrease in Ca2
  • in mice lacking endogenous Aipl1, rod-specific expression of hAIPL1 protein completely rescues rod outer segment ultrastructure
  • restoration of cellular function and preservation of photoreceptor cells and retinal function in Aipl1 h/h mice following gene replacement therapy using an AAV2/2 vector and in the light accelerated Aipl1 h/h model and Aipl1-/- mice using an AAV2/8 vector