INPP5E translocates to the primary cilium

Stable Identifier
R-HSA-5624954
Type
Reaction [omitted]
Species
Homo sapiens
Compartment
Locations in the PathwayBrowser
General
SVG |   | PPTX  | SBGN
Click the image above or here to open this reaction in the Pathway Browser
The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout

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
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
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
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
Participants
Participant Of
Orthologous Events
Authored
Reviewed
Created
Cite Us!