AIPL1

Aryl hydrocarbon receptor interacting protein-like 1
Identifiers
Symbols	AIPL1 ; AIPL2; LCA4
External IDs	Template:OMIM5 Template:MGI HomoloGene: 22806
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Aryl hydrocarbon receptor interacting protein-like 1, also known as AIPL1, is a human gene.

Leber congenital amaurosis (LCA) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat electroretinogram. The photoreceptor/pineal -expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, was mapped within the LCA4 candidate region. The protein contains three tetratricopeptide motifs, consistent with nuclear transport or chaperone activity. AIPL1 mutations may cause approximately 20% of recessive LCA.

Further reading

• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. PMID 8889548.CS1 maint: Multiple names: authors list (link)
• Sohocki MM, Malone KA, Sullivan LS, Daiger SP (1999). "Localization of retina/pineal-expressed sequences: identification of novel candidate genes for inherited retinal disorders". Genomics. 58 (1): 29–33. doi:10.1006/geno.1999.5810. PMID 10331942.CS1 maint: Multiple names: authors list (link)
• Sohocki MM, Bowne SJ, Sullivan LS; et al. (2000). "Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis". Nat. Genet. 24 (1): 79–83. doi:10.1038/71732. PMID 10615133.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Damji KF, Sohocki MM, Khan R; et al. (2002). "Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p". Can. J. Ophthalmol. 36 (5): 252–9. PMID 11548141.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• van der Spuy J, Chapple JP, Clark BJ; et al. (2002). "The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina". Hum. Mol. Genet. 11 (7): 823–31. PMID 11929855.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Akey DT, Zhu X, Dyer M; et al. (2003). "The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1". Hum. Mol. Genet. 11 (22): 2723–33. PMID 12374762.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ramamurthy V, Roberts M, van den Akker F; et al. (2004). "AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins". Proc. Natl. Acad. Sci. U.S.A. 100 (22): 12630–5. doi:10.1073/pnas.2134194100. PMID 14555765.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kanaya K, Sohocki MM, Kamitani T (2004). "Abolished interaction of NUB1 with mutant AIPL1 involved in Leber congenital amaurosis". Biochem. Biophys. Res. Commun. 317 (3): 768–73. doi:10.1016/j.bbrc.2004.03.108. PMID 15081406.CS1 maint: Multiple names: authors list (link)
• Akey DT, Zhu X, Dyer M; et al. (2004). "Functional studies of AIPL1: potential role of AIPL1 in cell cycle exit and/or differentiation of photoreceptors". Adv. Exp. Med. Biol. 533: 287–95. PMID 15180275.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Dharmaraj S, Leroy BP, Sohocki MM; et al. (2004). "The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations". Arch. Ophthalmol. 122 (7): 1029–37. doi:10.1001/archopht.122.7.1029. PMID 15249368.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• van der Spuy J, Cheetham ME (2005). "The Leber congenital amaurosis protein AIPL1 modulates the nuclear translocation of NUB1 and suppresses inclusion formation by NUB1 fragments". J. Biol. Chem. 279 (46): 48038–47. doi:10.1074/jbc.M407871200. PMID 15347646.
• Liu X, Bulgakov OV, Wen XH; et al. (2004). "AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase". Proc. Natl. Acad. Sci. U.S.A. 101 (38): 13903–8. doi:10.1073/pnas.0405160101. PMID 15365173.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gallon VA, Wilkie SE, Deery EC; et al. (2004). "Purification, characterisation and intracellular localisation of aryl hydrocarbon interacting protein-like 1 (AIPL1) and effects of mutations associated with inherited retinal dystrophies". Biochim. Biophys. Acta. 1690 (2): 141–9. doi:10.1016/j.bbadis.2004.06.012. PMID 15469903.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Booij JC, Florijn RJ, ten Brink JB; et al. (2006). "Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa". J. Med. Genet. 42 (11): e67. doi:10.1136/jmg.2005.035121. PMID 16272259.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)