Entrez Summary: 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.[provided by RefSeq, May 2010].
UniProt Summary: N/A
Pfam DomainsGO Terms
Pfam Domains
DAGK cat
GO Terms
sphingolipid binding
NAD+ kinase activity
photoreceptor inner segment
photoreceptor outer segment
sphingolipid biosynthetic process
membrane lipid biosynthetic process
sphingolipid metabolic process
membrane lipid metabolic process
lipid biosynthetic process
perinuclear region of cytoplasm
nucleolus
cellular lipid metabolic process
Golgi apparatus
endoplasmic reticulum
lipid metabolic process
phosphorylation
organonitrogen compound biosynthetic process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)