INPP5E translocates to the primary cilium

Stable Identifier
Reaction [omitted]
Homo sapiens
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INPP5E is a ciliary peripheral membrane protein that is associated with the ciliopathy Joubert's Syndrome (Bielas et al, 2009; Jacoby et al, 2009). Ciliary localization of the full-length protein depends on a targeting sequence and interactions with PDE6D and ARL13B, although the detailed mechanism remains unresolved (Humbert et al, 2012).
Literature References
PubMed ID Title Journal Year
19668215 INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

Ayub, M, Compère, P, Kisseleva, MV, Hampshire, DJ, Cox, JJ, Gergely, F, Gayral, S, Riley, JH, Woods, CG, Jacoby, M, Pérez-Morga, D, Pernot, E, Schurmans, S, Schiffmann, SN, Blockmans, M

Nat. Genet. 2009
23150559 ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting

Seo, S, Searby, CC, Li, Y, Pope, RM, Sheffield, VC, Humbert, MC, Weihbrecht, K

Proc. Natl. Acad. Sci. U.S.A. 2012
19668216 Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Schurmans, S, Kayserili, H, Gayral, S, Brancati, F, Dallapiccola, B, Jacoby, M, Gleeson, JG, Swistun, D, Majerus, PW, Zaki, MS, Valente, EM, Silhavy, JL, Boltshauser, E, Kisseleva, MV, Scott, LC, Travaglini, L, Abdel-Aleem, A, Fazzi, E, Bayoumi, RA, Bielas, SL, Bertini, E, Al-Gazali, L, Field, SJ, Sztriha, L, Rosti, RO

Nat Genet 2009
Orthologous Events
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