CERKL
Developmental stage
Expressed in fetal lung, kidney and brain.
Function
Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions.
Involvement in disease
Retinitis pigmentosa 26
RP26
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated on serine residues.
Tissue Specificity
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.
Cellular localization
- 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
Alternative names
Ceramide kinase-like protein, CERKL