| 释义 |
- Function
- Interactions
- References
- Further reading
- External links
{{Infobox_gene}}Aryl-hydrocarbon-interacting protein-like 1 is a protein that in humans is encoded by the AIPL1 gene.[1][2][3][4] Function 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.[4] Interactions AIPL1 has been shown to interact with NUB1.[5] References 1. ^{{cite journal | vauthors = Sohocki MM, Bowne SJ, Sullivan LS, Blackshaw S, Cepko CL, Payne AM, Bhattacharya SS, Khaliq S, Qasim Mehdi S, Birch DG, Harrison WR, Elder FF, Heckenlively JR, Daiger SP | title = Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis | journal = Nat. Genet. | volume = 24 | issue = 1 | pages = 79–83 | date = Feb 2000 | pmid = 10615133 | pmc = 2581448 | doi = 10.1038/71732 }}
2. ^{{cite journal | vauthors = Ramamurthy V, Roberts M, van den Akker F, Niemi G, Reh TA, Hurley JB | title = AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 100 | issue = 22 | pages = 12630–5 | date = Oct 2003 | pmid = 14555765 | pmc = 240669 | doi = 10.1073/pnas.2134194100 }}
3. ^{{cite journal | vauthors = Liu X, Bulgakov OV, Wen XH, Woodruff ML, Pawlyk B, Yang J, Fain GL, Sandberg MA, Makino CL, Li T | title = AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 101 | issue = 38 | pages = 13903–8 | date = Sep 2004 | pmid = 15365173 | pmc = 518851 | doi = 10.1073/pnas.0405160101 }}
4. ^1 {{cite web | title = Entrez Gene: AIPL1 aryl hydrocarbon receptor interacting protein-like 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23746| accessdate = }}
5. ^{{cite journal | vauthors = Akey DT, Zhu X, Dyer M, Li A, Sorensen A, Blackshaw S, Fukuda-Kamitani T, Daiger SP, Craft CM, Kamitani T, Sohocki MM | title = The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1 | journal = Hum. Mol. Genet. | volume = 11 | issue = 22 | pages = 2723–33 | date = Oct 2002 | pmid = 12374762 | pmc = 2585502 | doi = 10.1093/hmg/11.22.2723 }}
Further reading {{refbegin | 2}}- {{cite journal | vauthors = Bonaldo MF, Lennon G, Soares MB | title = Normalization and subtraction: two approaches to facilitate gene discovery | journal = Genome Res. | volume = 6 | issue = 9 | pages = 791–806 | year = 1996 | pmid = 8889548 | doi = 10.1101/gr.6.9.791 }}
- {{cite journal | vauthors = Sohocki MM, Malone KA, Sullivan LS, Daiger SP | title = Localization of retina/pineal-expressed sequences: identification of novel candidate genes for inherited retinal disorders | journal = Genomics | volume = 58 | issue = 1 | pages = 29–33 | year = 1999 | pmid = 10331942 | doi = 10.1006/geno.1999.5810 }}
- {{cite journal | vauthors = Damji KF, Sohocki MM, Khan R, Gupta SK, Rahim M, Loyer M, Hussein N, Karim N, Ladak SS, Jamal A, Bulman D, Koenekoop RK | title = Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p | journal = Can. J. Ophthalmol. | volume = 36 | issue = 5 | pages = 252–9 | year = 2001 | pmid = 11548141 | doi = 10.1016/s0008-4182(01)80018-1 }}
- {{cite journal | vauthors = van der Spuy J, Chapple JP, Clark BJ, Luthert PJ, Sethi CS, Cheetham ME | title = The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina | journal = Hum. Mol. Genet. | volume = 11 | issue = 7 | pages = 823–31 | year = 2002 | pmid = 11929855 | doi = 10.1093/hmg/11.7.823 }}
- {{cite journal | vauthors = Akey DT, Zhu X, Dyer M, Li A, Sorensen A, Blackshaw S, Fukuda-Kamitani T, Daiger SP, Craft CM, Kamitani T, Sohocki MM | title = The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1 | journal = Hum. Mol. Genet. | volume = 11 | issue = 22 | pages = 2723–33 | year = 2002 | pmid = 12374762 | pmc = 2585502 | doi = 10.1093/hmg/11.22.2723 }}
- {{cite journal | vauthors = Kanaya K, Sohocki MM, Kamitani T | title = Abolished interaction of NUB1 with mutant AIPL1 involved in Leber congenital amaurosis | journal = Biochem. Biophys. Res. Commun. | volume = 317 | issue = 3 | pages = 768–73 | year = 2004 | pmid = 15081406 | doi = 10.1016/j.bbrc.2004.03.108 }}
- {{cite journal | vauthors = Akey DT, Zhu X, Dyer M, Li A, Sorensen A, Fukada-Kamitani T, Daiger SP, Craft C, Kamitani T, Sohocki MM | title = Functional studies of AIPL1: potential role of AIPL1 in cell cycle exit and/or differentiation of photoreceptors | journal = Adv. Exp. Med. Biol. | volume = 533 | issue = | pages = 287–95 | year = 2003 | pmid = 15180275 | doi = 10.1007/978-1-4615-0067-4_35 }}
- {{cite journal | vauthors = Dharmaraj S, Leroy BP, Sohocki MM, Koenekoop RK, Perrault I, Anwar K, Khaliq S, Devi RS, Birch DG, De Pool E, Izquierdo N, Van Maldergem L, Ismail M, Payne AM, Holder GE, Bhattacharya SS, Bird AC, Kaplan J, Maumenee IH | title = The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations | journal = Arch. Ophthalmol. | volume = 122 | issue = 7 | pages = 1029–37 | year = 2004 | pmid = 15249368 | doi = 10.1001/archopht.122.7.1029 }}
- {{cite journal | vauthors = van der Spuy J, Cheetham ME | title = The Leber congenital amaurosis protein AIPL1 modulates the nuclear translocation of NUB1 and suppresses inclusion formation by NUB1 fragments | journal = J. Biol. Chem. | volume = 279 | issue = 46 | pages = 48038–47 | year = 2004 | pmid = 15347646 | doi = 10.1074/jbc.M407871200 }}
- {{cite journal | vauthors = Gallon VA, Wilkie SE, Deery EC, Newbold RJ, Sohocki MM, Bhattacharya SS, Hunt DM, Warren MJ | title = Purification, characterisation and intracellular localisation of aryl hydrocarbon interacting protein-like 1 (AIPL1) and effects of mutations associated with inherited retinal dystrophies | journal = Biochim. Biophys. Acta | volume = 1690 | issue = 2 | pages = 141–9 | year = 2004 | pmid = 15469903 | doi = 10.1016/j.bbadis.2004.06.012 }}
- {{cite journal | vauthors = Booij JC, Florijn RJ, ten Brink JB, Loves W, Meire F, van Schooneveld MJ, de Jong PT, Bergen AA | title = Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa | journal = J. Med. Genet. | volume = 42 | issue = 11 | pages = e67 | year = 2005 | pmid = 16272259 | pmc = 1735944 | doi = 10.1136/jmg.2005.035121 }}
{{refend}} External links - {{UCSC gene info|AIPL1}}
- [https://www.ncbi.nlm.nih.gov/books/NBK1417/ GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview]
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