Target:CERKL
Gene Name:CERKL
Protein Name:Ceramide kinase-like protein
Human Gene Id:375298
Human Swiss Prot No:Q49MI3
Immunogen:The antiserum was produced against synthesized peptide derived from human CERKL. AA range:341-390
Specificity:CERKL Polyclonal Antibody detects endogenous levels of CERKL protein.
Formulation:Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Source:Polyclonal, Rabbit,IgG
Dilution:WB 1:500 - 1:2000. IHC 1:100 - 1:300. ELISA: 1:20000.. IF 1:50-200
Purification:The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration:1 mg/ml
Storage Stability:-15°C to -25°C/1 year(Do not lower than -25°C)
Other Name:CERKL;Ceramide kinase-like protein
Observed Band(KD):63kD
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.[provided by RefSeq, May 2010],
Function: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.,
Subcellular Location: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.
Expression: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.