GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.
PMID:14555765
| Citation |
Ramamurthy, V, Roberts, M, van den Akker, F, Niemi, G, Reh, TA and Hurley, JB (2003) AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins. Proc. Natl. Acad. Sci. U.S.A. 100:12630-5 |
|---|---|
| Abstract |
The most common form of blindness at birth, Leber's congenital amaurosis (LCA), is inherited in an autosomal recessive fashion. Mutations in six different retina-specific genes, including a recently discovered gene, AIPL1, have been linked to LCA in humans. To understand the molecular basis of LCA caused by aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) mutations, and to elucidate the normal function of AIPL1, we performed a yeast two-hybrid screen using AIPL1 as bait. The screen demonstrated that AIPL1 interacts specifically with farnesylated proteins. Mutations in AIPL1 linked to LCA compromise this activity. These findings suggest that the essential function of AIPL1 within photoreceptors requires interactions with farnesylated proteins. Analysis of isoprenylation in cultured human cells shows that AIPL1 enhances the processing of farnesylated proteins. Based on these findings, we propose that AIPL1 interacts with farnesylated proteins and plays an essential role in processing of farnesylated proteins in retina. |
| Links |
PubMed PMC240669 Online version:10.1073/pnas.2134194100 |
| Keywords |
Adaptor Proteins, Signal Transducing; Animals; COS Cells; Carrier Proteins/genetics; Carrier Proteins/metabolism; Cell Line; Cercopithecus aethiops; Cloning, Molecular; Eye Proteins; Gene Deletion; Humans; Kidney; Mice; Mutagenesis; Optic Atrophy, Hereditary, Leber/genetics; Protein Prenylation/physiology; Protein Processing, Post-Translational; Proteins/metabolism; Recombinant Proteins/metabolism; Retina/metabolism; Saccharomyces cerevisiae/enzymology; Saccharomyces cerevisiae/genetics; Transfection |
| edit table |
Significance
Annotations
| Gene product | Qualifier | GO ID | GO term name | Evidence Code | with/from | Aspect | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| edit table |
See also
References
See Help:References for how to manage references in GONUTS.
