Reactome | ARL13B-mediated ciliary trafficking of INPP5E

ARL13B-mediated ciliary trafficking of INPP5E

Stable Identifier

R-HSA-5624958

Type

Pathway

Species

Homo sapiens

ReviewStatus

5/5

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ARL13B-mediated ciliary trafficking of INPP5E

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ARL13B is a ciliary-localized small GTPase with an atypical C-terminus containing a coiled coil domain and a proline rich domain (PRD) (Hori et al, 2008). Mutations in ARL13B are associated with the development of the ciliopathy Joubert's Syndrome (Cantagrel et al, 2008; Parisi et al, 2009). Studies in C. elegans and vertebrates suggest that ARL13B may play a role in stabilizing the interaction between the IFT A and B complexes and the kinesin-2 motors during anterograde traffic in the cilium (Cevik et al, 2010; Li et al, 2010; Cevik et al, 2013; reviewed in Li et al, 2012; Zhang et al, 2013). Recent work has shown an additional role for ARL13B in trafficking the inositol polyphosphate-5-phosphatase E (INPP5E) to the cilium through a network that also involves the phosphodiesterase PDE6D and the centriolar protein CEP164 (Humbert et al, 2012; Thomas et al, 2014; reviewed in Zhang et al, 2013). Mutations in INPP5E are also associated with the development of Joubert syndrome and other ciliopathies (Bielas et al, 2009; Jacoby et al, 2009; reviewed in Conduit et al, 2012).

Literature References

PubMed ID	Title	Journal	Year
19876931	Clinical and molecular features of Joubert syndrome and related disorders Parisi, MA	Am J Med Genet C Semin Med Genet	2009
18554500	Domain architecture of the atypical Arf-family GTPase Arl13b involved in cilia formation Hori, Y, Kobayashi, T, Kikko, Y, Kontani, K, Katada, T	Biochem. Biophys. Res. Commun.	2008
22389062	The emerging role of Arf/Arl small GTPases in cilia and ciliopathies Li, Y, Ling, K, Hu, J	J. Cell. Biochem.	2012
23150559	ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting Humbert, MC, Weihbrecht, K, Searby, CC, Li, Y, Pope, RM, Sheffield, VC, Seo, S	Proc. Natl. Acad. Sci. U.S.A.	2012
24339792	Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain Cevik, S, Sanders, AA, Van Wijk, E, Boldt, K, Clarke, L, van Reeuwijk, J, Hori, Y, Horn, N, Hetterschijt, L, Wdowicz, A, Mullins, A, Kida, K, Kaplan, OI, van Beersum, SE, Man Wu, K, Letteboer, SJ, Mans, DA, Katada, T, Kontani, K, Ueffing, M, Roepman, R, Kremer, H, Blacque, OE	PLoS Genet.	2013
23548655	Molecular views of Arf-like small GTPases in cilia and ciliopathies Zhang, Q, Hu, J, Ling, K	Exp. Cell Res.	2013
24166846	A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium Thomas, S, Wright, KJ, Le Corre, S, Micalizzi, A, Romani, M, Abhyankar, A, Saada, J, Perrault, I, Amiel, J, Litzler, J, Filhol, E, Elkhartoufi, N, Kwong, M, Casanova, JL, Boddaert, N, Baehr, W, Lyonnet, S, Munnich, A, Burglen, L, Chassaing, N, Encha-Ravazi, F, Vekemans, M, Gleeson, JG, Valente, EM, Jackson, PK, Drummond, IA, Saunier, S, Attié-Bitach, T	Hum. Mutat.	2014
18674751	Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome Cantagrel, V, Silhavy, JL, Bielas, SL, Swistun, D, Marsh, SE, Bertrand, JY, Audollent, S, Attié-Bitach, T, Holden, KR, Dobyns, WB, Traver, D, Al-Gazali, L, Ali, BR, Lindner, TH, Caspary, T, Otto, EA, Hildebrandt, F, Glass, IA, Logan, CV, Johnson, CA, Bennett, C, Brancati, F	Am. J. Hum. Genet.	2008
19668215	INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse Jacoby, M, Cox, JJ, Gayral, S, Hampshire, DJ, Ayub, M, Blockmans, M, Pernot, E, Kisseleva, MV, Compère, P, Schiffmann, SN, Gergely, F, Riley, JH, Pérez-Morga, D, Woods, CG, Schurmans, S	Nat. Genet.	2009
22828281	Inositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathies Conduit, SE, Dyson, JM, Mitchell, CA	FEBS Lett.	2012
20530210	The small GTPases ARL-13 and ARL-3 coordinate intraflagellar transport and ciliogenesis Li, Y, Wei, Q, Zhang, Y, Ling, K, Hu, J	J. Cell Biol.	2010
19668216	Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies Bielas, SL, Silhavy, JL, Brancati, F, Kisseleva, MV, Al-Gazali, L, Sztriha, L, Bayoumi, RA, Zaki, MS, Abdel-Aleem, A, Rosti, RO, Kayserili, H, Swistun, D, Scott, LC, Bertini, E, Boltshauser, E, Fazzi, E, Travaglini, L, Field, SJ, Gayral, S, Jacoby, M, Schurmans, S, Dallapiccola, B, Majerus, PW, Valente, EM, Gleeson, JG	Nat Genet	2009
20231383	Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegans Cevik, S, Hori, Y, Kaplan, OI, Kida, K, Toivenon, T, Foley-Fisher, C, Cottell, D, Katada, T, Kontani, K, Blacque, OE	J. Cell Biol.	2010