The inherited blindness protein AIPL1 regulates the ubiquitin-like FAT10 pathway

PLoS ONE

Volumn 7, Issue 2, 2012, Pages

  Bett, John S ^a   Kanuga, Naheed ^a   Richet, Emma ^a   Schmidtke, Gunter ^b   Groettrup, Marcus ^b   Cheetham, Michael E ^a   van der Spuy, Jacqueline ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF KONSTANZ   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARYL HYDROCARBON RECEPTOR INTERACTING PROTEIN LIKE 1; CHAPERONE; E1 ACTIVATING ENZYME; ENZYME; MUTANT PROTEIN; PROTEIN DHFR; PROTEIN FAT10; PROTEIN NUB1; UBIQUITIN; UNCLASSIFIED DRUG; AIPL1 PROTEIN, HUMAN; CARRIER PROTEIN; EYE PROTEIN; NUB1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR; UBD PROTEIN, HUMAN;

ARTICLE; CONTROLLED STUDY; CYTOLOGY; HUMAN; HUMAN CELL; IMMUNOPRECIPITATION; INHERITANCE; LEBER CONGENITAL AMAUROSIS; MUTATIONAL ANALYSIS; PATHOGENESIS; PHOTORECEPTOR; PROTEIN BINDING; PROTEIN DEGRADATION; PROTEIN FUNCTION; PROTEIN PROCESSING; PROTEIN PROTEIN INTERACTION; SIGNAL TRANSDUCTION; METABOLISM; MUTATION; PATHOLOGY; PHYSIOLOGY; RETINA; TUMOR CELL LINE;

CARRIER PROTEINS; CELL LINE, TUMOR; EYE PROTEINS; HUMANS; LEBER CONGENITAL AMAUROSIS; MUTATION; RETINA; TRANSCRIPTION FACTORS; UBIQUITINS;

EID: 84856729588     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0030866     Document Type: Article

References (28)

1. Sohocki MM, Bowne SJ, Sullivan LS, Blackshaw S, Cepko CL, et al. (2000) Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nat Genet 24: 79-83.
2. Liu X, Bulgakov OV, Wen XH, Woodruff ML, Pawlyk B, 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: 13903-13908.
3. Kolandaivelu S, Huang J, Hurley JB, Ramamurthy V, (2009) AIPL1, a protein associated with childhood blindness, interacts with alpha-subunit of rod phosphodiesterase (PDE6) and is essential for its proper assembly. J Biol Chem 284: 30853-30861.
4. Ramamurthy V, Niemi GA, Reh TA, Hurley JB, (2004) Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase. Proc Natl Acad Sci U S A 101: 13897-13902.
5. Hidalgo-de-Quintana J, Evans RJ, Cheetham ME, van der Spuy J, (2008) The Leber congenital amaurosis protein AIPL1 functions as part of a chaperone heterocomplex. Invest Ophthalmol Vis Sci 49: 2878-2887.
6. Akey DT, Zhu X, Dyer M, Li A, Sorensen A, et al. (2002) The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1. Hum Mol Genet 11: 2723-2733.
7. Hipp MS, Raasi S, Groettrup M, Schmidtke G, (2004) NEDD8 ultimate buster-1L interacts with the ubiquitin-like protein FAT10 and accelerates its degradation. J Biol Chem 279: 16503-16510.
8. Kamitani T, Kito K, Fukuda-Kamitani T, Yeh ET, (2001) Targeting of NEDD8 and its conjugates for proteasomal degradation by NUB1. J Biol Chem 276: 46655-46660.
9. van der Spuy J, Cheetham ME, (2004) The Leber congenital amaurosis protein AIPL1 modulates the nuclear translocation of NUB1 and suppresses inclusion formation by NUB1 fragments. J Biol Chem 279: 48038-48047.
10. Kerscher O, Felberbaum R, Hochstrasser M, (2006) Modification of proteins by ubiquitin and ubiquitin-like proteins. Annu Rev Cell Dev Biol 22: 159-180.
11. Raasi S, Schmidtke G, Groettrup M, (2001) The ubiquitin-like protein FAT10 forms covalent conjugates and induces apoptosis. J Biol Chem 276: 35334-35343.
12. Hipp MS, Kalveram B, Raasi S, Groettrup M, Schmidtke G, (2005) FAT10, a ubiquitin-independent signal for proteasomal degradation. Mol Cell Biol 25: 3483-3491.
13. Schmidtke G, Kalveram B, Groettrup M, (2009) Degradation of FAT10 by the 26S proteasome is independent of ubiquitylation but relies on NUB1L. FEBS Lett 583: 591-594.
14. Aichem A, Pelzer C, Lukasiak S, Kalveram B, Sheppard PW, et al. (2010) USE1 is a bispecific conjugating enzyme for ubiquitin and FAT10, which FAT10ylates itself in cis. Nat Commun 1: 1-10.
15. Schmidtke G, Kalveram B, Weber E, Bochtler P, Lukasiak S, et al. (2006) The UBA domains of NUB1L are required for binding but not for accelerated degradation of the ubiquitin-like modifier FAT10. J Biol Chem 281: 20045-20054.
16. Chiu YH, Sun Q, Chen ZJ, (2007) E1-L2 activates both ubiquitin and FAT10. Mol Cell 27: 1014-1023.
17. Liu YC, Pan J, Zhang C, Fan W, Collinge M, et al. (1999) A MHC-encoded ubiquitin-like protein (FAT10) binds noncovalently to the spindle assembly checkpoint protein MAD2. Proc Natl Acad Sci U S A 96: 4313-4318.
18. Canaan A, Yu X, Booth CJ, Lian J, Lazar I, et al. (2006) FAT10/diubiquitin-like protein-deficient mice exhibit minimal phenotypic differences. Mol Cell Biol 26: 5180-5189.
19. Lee CG, Ren J, Cheong IS, Ban KH, Ooi LL, et al. (2003) Expression of the FAT10 gene is highly upregulated in hepatocellular carcinoma and other gastrointestinal and gynecological cancers. Oncogene 22: 2592-2603.
20. Lukasiak S, Schiller C, Oehlschlaeger P, Schmidtke G, Krause P, et al. (2008) Proinflammatory cytokines cause FAT10 upregulation in cancers of liver and colon. Oncogene 27: 6068-6074.
21. Kalveram B, Schmidtke G, Groettrup M, (2008) The ubiquitin-like modifier FAT10 interacts with HDAC6 and localizes to aggresomes under proteasome inhibition. J Cell Sci 121: 4079-4088.
22. Ren J, Kan A, Leong SH, Ooi LL, Jeang KT, et al. (2006) FAT10 plays a role in the regulation of chromosomal stability. J Biol Chem 281: 11413-11421.
23. van der Spuy J, Chapple JP, Clark BJ, Luthert PJ, Sethi CS, 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: 823-831.
24. van der Spuy J, Kim JH, Yu YS, Szel A, Luthert PJ, et al. (2003) The expression of the Leber congenital amaurosis protein AIPL1 coincides with rod and cone photoreceptor development. Invest Ophthalmol Vis Sci 44: 5396-5403.
25. van der Spuy J, Munro PM, Luthert PJ, Preising MN, Bek T, et al. (2005) Predominant rod photoreceptor degeneration in Leber congenital amaurosis. Mol Vis 11: 542-553.
26. Mendes HF, Cheetham ME, (2008) Pharmacological manipulation of gain-of-function and dominant-negative mechanisms in rhodopsin retinitis pigmentosa. Hum Mol Genet 17: 3043-3054.
27. Kanaya K, Sohocki MM, Kamitani T, (2004) Abolished interaction of NUB1 with mutant AIPL1 involved in Leber congenital amaurosis. Biochem Biophys Res Commun 317: 768-773.
28. Lim CB, Zhang D, Lee CG, (2006) FAT10, a gene up-regulated in various cancers, is cell-cycle regulated. Cell Div 1: 20.