CERKL

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]

Description

Ceramide kinase like

Tissue specificity

Tissue enhanced (lymphoid tissue, retina)

Subcell location

Nucleoplasm, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Kim et al 2014)

Chromosome

2 (181536672 - 181680665)

Ensembl ID

ENSG00000188452  (ver. 103.38)

Orthologs

Mouse Cerkl: ENSMUSG00000075256

UniProt

Q49MI3

neXtProt

NX_Q49MI3

Human splice variants
Mouse splice variants

Protein structure