ceramide kinase-like protein (CERKL)

Function

• has no detectable ceramide-kinase activity
• overexpression of CERKL protects cells from apoptosis under conditions of oxidative stress
• phosphorylated on Ser

Structure

contains 1 DAGKc domain

Compartment

• cytoplasmic & nuclear; enriched in nucleoli
• may shuttle between nucleus & cytoplasm
• isoform 2: cytoplasm. nucleus, nucleolus, Golgi, trans-Golgi network, endoplasmic reticulum
• isoform 5 is not enriched in the nucleoli

Alternative splicing

• named isoforms=8
• at least one isoform may be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay

Expression

• expressed in fetal lung, kidney & brain
• isoform 1 & isoform 2 are expressed in adult retina, liver & pancreas as well as in fetal brain, lung & kidney
• isoform 3 is expressed in adult retina as well as in fetal lung & liver
• isoform 4 is expressed in adult retina, lung & kidney as well as in fetal lung & liver
• moderately expressed in retina, kidney, lung, testis, trachea, & pancreas
• weakly expressed in brain, placenta & liver

Pathology

• defects in CERKL are the cause of retinitis pigmentosa 26

Laboratory

• CERKL gene mutation

More general terms

• nuclear protein
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=375298
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:375298
• OMIM: https://mirror.omim.org/entry/608380
• OMIM: https://mirror.omim.org/entry/608381
• UniProt: http://www.uniprot.org/uniprot/Q49MI3.html