Reactome | INPP5E translocates to the primary cilium

INPP5E translocates to the primary cilium

Stable Identifier

R-HSA-5624954

Type

Reaction [omitted]

Species

Homo sapiens

Compartment

cilium

ReviewStatus

5/5

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INPP5E translocates to the primary cilium

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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