Disease relevance of CERKL

• A more detailed analysis by in situ hybridization on adult murine retina sections shows expression of Cerkl in the ganglion cell layer [1].

High impact information on CERKL

• We finally identified a novel gene encoding a ceramide kinase (CERKL), which encompassed 13 exons [1].
• Human CERKL is expressed in the retina, among other adult and fetal tissues [1].
• Therefore, CERKL deficiency could shift the relative levels of the signaling sphingolipid metabolites and increase sensitivity of photoreceptor and other retinal cells to apoptotic stimuli [1].
• Our results provide the first evidence of the active nuclear import of CERKL and suggest that the identified NLS might be responsible for nucleolar retention of the protein [2].
• Identification of a nuclear localization signal in the retinitis pigmentosa-mutated RP26 protein, ceramide kinase-like protein [2].

Biological context of CERKL

• Two splice variants of CERKL did not localize to nucleoli nor did a CERKL variant with a point mutation in the putative ATP binding site [3].

Anatomical context of CERKL

• Upon 32P(i)-pulse labeling of COS-1 cells transiently expressing CERKL, or incubation with NBD-C6-ceramide, ceramide-1-phosphate was not detected [3].

Associations of CERKL with chemical compounds

• Treatment with the calcium ionophore A23187 led to clearing of CERKL from nucleoli, but had no effect on the R257X CERKL mutant [3].

Other interactions of CERKL

• Surprisingly, various ceramides, known substrates for CERK, were not phosphorylated by CERKL in vitro [3].
• We also studied a naturally occurring CERKL mutant (R257X), recently linked to the pathology of retinitis pigmentosa [3].

References