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Gene Review

AIPL1  -  aryl hydrocarbon receptor interacting...

Homo sapiens

Synonyms: AIPL2, Aryl-hydrocarbon-interacting protein-like 1, LCA4
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Disease relevance of AIPL1


High impact information on AIPL1

  • AIPL1 mutations may cause approximately 20% of recessive LCA, as disease-causing mutations were identified in 3 of 14 LCA families not tested previously for linkage [5].
  • Mutations in AIPL1 cause Leber congenital amaurosis, a severe early-onset retinopathy that leads to visual impairment in infants [6].
  • Before any noticeable pathology, there was a reduction in the level of rod cGMP phosphodiesterase (PDE) proportional to the decrease in AIPL1 expression, whereas other photoreceptor proteins were unaffected [6].
  • Thus loss of AIPL1 would result in a condition that phenocopies retinal degenerations in the rd mouse and in a subgroup of human patients [6].
  • Analysis of isoprenylation in cultured human cells shows that AIPL1 enhances the processing of farnesylated proteins [4].

Biological context of AIPL1


Anatomical context of AIPL1

  • These data raise the possibility that AIPL1 is important for appropriate photoreceptor formation during development and/or survival following differentiation [1].
  • Co-transfection of AIPL1 with GFP-NUB1-N and GFP-NUB1-C resulted in an AIPL1-dependent suppression of GFP-NUB1-N perinuclear inclusions and GFP-NUB1-C intranuclear inclusions leading to the redistribution of these fragments in the cytoplasm [7].
  • AIPL1 was not detected in the cone photoreceptors of peripheral or central human retina [11].
  • Within the retina, AIPL1 was detected only in the rod photoreceptor cells of the peripheral and central human retina [11].
  • A screen of human tissues and immortalized cell lines with this antibody reveals AIPL1 to be specific to human retina and cell lines of retinal origin (Y79 retinoblastoma cells) [11].

Associations of AIPL1 with chemical compounds

  • We found a homozygous nonsense mutation in the AIPL1 gene, which replaces a tryptophan with a stop codon (Trp278X) [12].

Physical interactions of AIPL1


Regulatory relationships of AIPL1

  • Interestingly, AIPL1 was able to act in a chaperone-like fashion to efficiently suppress inclusion formation by NUB1 fragments [7].

Other interactions of AIPL1

  • We examined the effect of a range of pathogenic and engineered mutations on the ability of AIPL1 to modulate NUB1 localization or inclusion formation [7].
  • We also identified affected individuals in two apparently dominant families, diagnosed with juvenile retinitis pigmentosa or dominant cone-rod dystrophy, respectively, who are heterozygous for a 12-bp AIPL1 deletion [8].
  • The present study establishes a genotype-phenotype correlation for AIPL1, CRB1, and GUCY2D [13].
  • The frequency of RPE65 mutations was 9.5%; and of AIPL1 mutations 4.8% [14].
  • Role of AIP and its homologue the blindness-associated protein AIPL1 in regulating client protein nuclear translocation [15].

Analytical, diagnostic and therapeutic context of AIPL1


  1. The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1. Akey, D.T., Zhu, X., Dyer, M., Li, A., Sorensen, A., Blackshaw, S., Fukuda-Kamitani, T., Daiger, S.P., Craft, C.M., Kamitani, T., Sohocki, M.M. Hum. Mol. Genet. (2002) [Pubmed]
  2. Evaluation of genotype-phenotype associations in leber congenital amaurosis. Galvin, J.A., Fishman, G.A., Stone, E.M., Koenekoop, R.K. Retina (Philadelphia, Pa.) (2005) [Pubmed]
  3. The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations. Dharmaraj, S., Leroy, B.P., Sohocki, M.M., Koenekoop, R.K., Perrault, I., Anwar, K., Khaliq, S., Devi, R.S., Birch, D.G., De Pool, E., Izquierdo, N., Van Maldergem, L., Ismail, M., Payne, A.M., Holder, G.E., Bhattacharya, S.S., Bird, A.C., Kaplan, J., Maumenee, I.H. Arch. Ophthalmol. (2004) [Pubmed]
  4. AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins. Ramamurthy, V., Roberts, M., van den Akker, F., Niemi, G., Reh, T.A., Hurley, J.B. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  5. Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Sohocki, M.M., Bowne, S.J., Sullivan, L.S., Blackshaw, S., Cepko, C.L., Payne, A.M., Bhattacharya, S.S., Khaliq, S., Qasim Mehdi, S., Birch, D.G., Harrison, W.R., Elder, F.F., Heckenlively, J.R., Daiger, S.P. Nat. Genet. (2000) [Pubmed]
  6. AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase. Liu, X., Bulgakov, O.V., Wen, X.H., Woodruff, M.L., Pawlyk, B., Yang, J., Fain, G.L., Sandberg, M.A., Makino, C.L., Li, T. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  7. The Leber congenital amaurosis protein AIPL1 modulates the nuclear translocation of NUB1 and suppresses inclusion formation by NUB1 fragments. van der Spuy, J., Cheetham, M.E. J. Biol. Chem. (2004) [Pubmed]
  8. Prevalence of AIPL1 mutations in inherited retinal degenerative disease. Sohocki, M.M., Perrault, I., Leroy, B.P., Payne, A.M., Dharmaraj, S., Bhattacharya, S.S., Kaplan, J., Maumenee, I.H., Koenekoop, R., Meire, F.M., Birch, D.G., Heckenlively, J.R., Daiger, S.P. Mol. Genet. Metab. (2000) [Pubmed]
  9. Effects of Low AIPL1 Expression on Phototransduction in Rods. Makino, C.L., Wen, X.H., Michaud, N., Peshenko, I.V., Pawlyk, B., Brush, R.S., Soloviev, M., Liu, X., Woodruff, M.L., Calvert, P.D., Savchenko, A.B., Anderson, R.E., Fain, G.L., Li, T., Sandberg, M.A., Dizhoor, A.M. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  10. Novel triple missense mutations of GUCY2D gene in Japanese family with cone-rod dystrophy: Possible use of genotyping microarray. Yoshida, S., Yamaji, Y., Yoshida, A., Kuwahara, R., Yamamoto, K., Kubata, T., Ishibashi, T. Mol. Vis. (2006) [Pubmed]
  11. The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina. van der Spuy, J., Chapple, J.P., Clark, B.J., Luthert, P.J., Sethi, C.S., Cheetham, M.E. Hum. Mol. Genet. (2002) [Pubmed]
  12. Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p. Damji, K.F., Sohocki, M.M., Khan, R., Gupta, S.K., Rahim, M., Loyer, M., Hussein, N., Karim, N., Ladak, S.S., Jamal, A., Bulman, D., Koenekoop, R.K. Can. J. Ophthalmol. (2001) [Pubmed]
  13. Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. Yzer, S., Leroy, B.P., De Baere, E., de Ravel, T.J., Zonneveld, M.N., Voesenek, K., Kellner, U., Ciriano, J.P., de Faber, J.T., Rohrschneider, K., Roepman, R., den Hollander, A.I., Cruysberg, J.R., Meire, F., Casteels, I., van Moll-Ramirez, N.G., Allikmets, R., van den Born, L.I., Cremers, F.P. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  14. Analysis of three genes in Leber congenital amaurosis in Indonesian patients. Sitorus, R.S., Lorenz, B., Preising, M.N. Vision Res. (2003) [Pubmed]
  15. Role of AIP and its homologue the blindness-associated protein AIPL1 in regulating client protein nuclear translocation. van der Spuy, J., Cheetham, M.E. Biochem. Soc. Trans. (2004) [Pubmed]
  16. Purification, characterisation and intracellular localisation of aryl hydrocarbon interacting protein-like 1 (AIPL1) and effects of mutations associated with inherited retinal dystrophies. Gallon, V.A., Wilkie, S.E., Deery, E.C., Newbold, R.J., Sohocki, M.M., Bhattacharya, S.S., Hunt, D.M., Warren, M.J. Biochim. Biophys. Acta (2004) [Pubmed]
  17. The expression of the Leber congenital amaurosis protein AIPL1 coincides with rod and cone photoreceptor development. van der Spuy, J., Kim, J.H., Yu, Y.S., Szel, A., Luthert, P.J., Clark, B.J., Cheetham, M.E. Invest. Ophthalmol. Vis. Sci. (2003) [Pubmed]
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