CERKL

Ceramide kinase-like protein

developmental stage:Expressed in fetal lung, kidney and brain.,disease:Defects in CERKL are the cause of retinitis pigmentosa type 26 (RP26) [MIM:608380]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP26 inheritance is autosomal recessive.,function:Has no detectable ceramide-kinase activity.,PTM:Phosphorylated on serine residues.,sequence caution:Wrong choice of CDS.,similarity:Contains 1 DAGKc domain.,subcellular location:Enriched in nucleoli. May shuttle between nucleus and cytoplasm. Isoform 5 is not enriched in the nucleoli.,tissue specificity:Moderately expressed in retina, kidney, lung, testis, trachea, and pancreas. Weakly expressed in brain, placenta and liver.,

cell surface receptor linked signal transduction, G-protein coupled receptor protein signaling pathway, activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway, sensory perception, visual perception, regulation of phosphate metabolic process, activation of protein kinase activity, positive regulation of kinase activity, regulation of phosphorylation, positive regulation of catalytic activity, regulation of kinase activity,positive regulation of molecular function, regulation of protein kinase activity, positive regulation of protein kinase activity, neurological system process, cognition, sensory perception of light stimulus, regulation of phosphorus metabolic process, regulation of transferase activity, positive regulation of transferase activity,

Cytoplasm. Nucleus, nucleolus. Enriched in nucleoli. May shuttle between nucleus and cytoplasm. Isoform 5 is not enriched in the nucleoli.; [Isoform 2]: Cytoplasm. Nucleus, nucleolus. Golgi apparatus, trans-Golgi network. Endoplasmic reticulum.

Isoform 1 and isoform 2 are expressed in adult retina, liver and pancreas as well as in fetal brain, lung and kidney. Isoform 3 is expressed in adult retina as well as in fetal lung and liver. Isoform 4 is expressed in adult retina, lung and kidney as well as in fetal lung and liver. Moderately expressed in retina, kidney, lung, testis, trachea, and pancreas. Weakly expressed in brain, placenta and liver.