Recombinant Human Ceramide kinase-like protein (CERKL)

Uniprot Id

Q49MI3

Target Species

Human

Target Name

CERKL

Target Full Name

Ceramide kinase-like protein

Target Function

Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions.

Target Involvement

Retinitis pigmentosa 26 (RP26)

Target Subcellular Location

Cytoplasm. Nucleus, nucleolus. Note=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.

Target 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 wel

Target Synonyms

Ceramide kinase like protein; Ceramide kinase-like protein; CERKL; CERKL_HUMAN; Retinitis pigmentosa 26 (autosomal recessive); RP26

Target Background

This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative regulator of apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in multiple transcript variants encoding different isoforms and non-coding transcripts.