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

General

nuclear protein phosphoprotein

Properties

SIZE: entity length = 558 aa MW = 63 kD COMPARTMENT: cytoplasm cell nucleus golgi endoplasmic reticulum MOTIF: nuclear translocation signal {2-9} nuclear translocation signal {102-106} DAGKc {164-339}

Database Correlations

OMIM correlations MORBIDMAP 608381 UniProt Q49MI3 Pfam PF00781 Entrez Gene 375298 Kegg hsa:375298

References

UniProt :accession Q49MI3