# name
CERKL, a retinal disease gene,encodes an mRNA-biding protein that localizes in compact and unstranslated mRNPs associated to microtubules.

# metadata.dc.description.abstract[].value
The function of CERKL (CERamide Kinase Like), a causative gene of retinitis pigmentosa and cone-rod dystrophy, still awaits characterization. To approach its cellular role we have investigated the subcellular localization and interaction partners of the full length CERKL isoform, CERKLa of 532 amino acids, in different cell lines, including a photoreceptor-derived cell line. We demonstrate that CERKLa is a main component of compact and untranslated mRNPs and that associates with other RNP complexes such as stress granules, P-bodies and polysomes. CERKLa is a protein that binds through its N-terminus to mRNAs and interacts with other mRNA-binding proteins like eIF3B, PABP, HSP70 and RPS3. Except for eIF3B, these interactions depend on the integrity of mRNAs but not of ribosomes. Interestingly, the C125W CERKLa pathological mutant does not interact with eIF3B and is absent from these complexes. Compact mRNPs containing CERKLa also associate with microtubules and are found in neurites of neural differentiated cells. These localizations had not been reported previously for any member of the retinal disorders gene family and should be considered when investigating the pathogenic mechanisms and therapeutical approaches in these diseases.

# metadata.dc.rights[].value
cc-by (c) Fathinajafabadi, Alihamze et al., 2014

# metadata.dc.source[].value
Articles publicats en revistes (Genètica, Microbiologia i Estadística)

# metadata.dc.title[].value
CERKL, a retinal disease gene,encodes an mRNA-biding protein that localizes in compact and unstranslated mRNPs associated to microtubules.