| http://purl.uniprot.org/citations/23150559 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23150559 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23150559 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations affecting ciliary components cause a series of related genetic disorders in humans, including nephronophthisis (NPHP), Joubert syndrome (JBTS), Meckel-Gruber syndrome (MKS), and Bardet-Biedl syndrome (BBS), which are collectively termed "ciliopathies." Recent protein-protein interaction studies combined with genetic analyses revealed that ciliopathy-related proteins form several functional networks/modules that build and maintain the primary cilium. However, the precise function of many ciliopathy-related proteins and the mechanisms by which these proteins are targeted to primary cilia are still not well understood. Here, we describe a protein-protein interaction network of inositol polyphosphate-5-phosphatase E (INPP5E), a prenylated protein associated with JBTS, and its ciliary targeting mechanisms. INPP5E is targeted to the primary cilium through a motif near the C terminus and prenyl-binding protein phosphodiesterase 6D (PDE6D)-dependent mechanisms. Ciliary targeting of INPP5E is facilitated by another JBTS protein, ADP-ribosylation factor-like 13B (ARL13B), but not by ARL2 or ARL3. ARL13B missense mutations that cause JBTS in humans disrupt the ARL13B-INPP5E interaction. We further demonstrate interactions of INPP5E with several ciliary and centrosomal proteins, including a recently identified ciliopathy protein centrosomal protein 164 (CEP164). These findings indicate that ARL13B, INPP5E, PDE6D, and CEP164 form a distinct functional network that is involved in JBTS and NPHP but independent of the ones previously defined by NPHP and MKS proteins."xsd:string |
| http://purl.uniprot.org/citations/23150559 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.1210916109"xsd:string |
| http://purl.uniprot.org/citations/23150559 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.1210916109"xsd:string |
| http://purl.uniprot.org/citations/23150559 | http://purl.uniprot.org/core/author | "Li Y."xsd:string |
| http://purl.uniprot.org/citations/23150559 | http://purl.uniprot.org/core/author | "Li Y."xsd:string |
| http://purl.uniprot.org/citations/23150559 | http://purl.uniprot.org/core/author | "Seo S."xsd:string |
| http://purl.uniprot.org/citations/23150559 | http://purl.uniprot.org/core/author | "Seo S."xsd:string |
| http://purl.uniprot.org/citations/23150559 | http://purl.uniprot.org/core/author | "Sheffield V.C."xsd:string |
| http://purl.uniprot.org/citations/23150559 | http://purl.uniprot.org/core/author | "Sheffield V.C."xsd:string |
| http://purl.uniprot.org/citations/23150559 | http://purl.uniprot.org/core/author | "Humbert M.C."xsd:string |
| http://purl.uniprot.org/citations/23150559 | http://purl.uniprot.org/core/author | "Humbert M.C."xsd:string |
| http://purl.uniprot.org/citations/23150559 | http://purl.uniprot.org/core/author | "Pope R.M."xsd:string |
| http://purl.uniprot.org/citations/23150559 | http://purl.uniprot.org/core/author | "Pope R.M."xsd:string |
| http://purl.uniprot.org/citations/23150559 | http://purl.uniprot.org/core/author | "Searby C.C."xsd:string |
| http://purl.uniprot.org/citations/23150559 | http://purl.uniprot.org/core/author | "Searby C.C."xsd:string |
| http://purl.uniprot.org/citations/23150559 | http://purl.uniprot.org/core/author | "Weihbrecht K."xsd:string |
| http://purl.uniprot.org/citations/23150559 | http://purl.uniprot.org/core/author | "Weihbrecht K."xsd:string |
| http://purl.uniprot.org/citations/23150559 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |
| http://purl.uniprot.org/citations/23150559 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |
| http://purl.uniprot.org/citations/23150559 | http://purl.uniprot.org/core/name | "Proc. Natl. Acad. Sci. U.S.A."xsd:string |
| http://purl.uniprot.org/citations/23150559 | http://purl.uniprot.org/core/name | "Proc. Natl. Acad. Sci. U.S.A."xsd:string |
| http://purl.uniprot.org/citations/23150559 | http://purl.uniprot.org/core/pages | "19691-19696"xsd:string |
| http://purl.uniprot.org/citations/23150559 | http://purl.uniprot.org/core/pages | "19691-19696"xsd:string |