| Tbio | Ceramide kinase-like protein |
Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions.
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]
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]
Comments
Property Summary
| NCBI Gene PubMed Count | 30 |
| Grant Count | 7 |
| R01 Count | 3 |
| Funding | $589,400.13 |
| PubMed Score | 32.19 |
| PubTator Score | 27.05 |
| PMID | Text |
|---|---|
| 26296657 | pVHL interacts with CERKL and ubiquitinates it for oxygen dependent proteasomal degradation. |
| 24735978 | CERKL interacts with TRX2 and plays a novel key role in the regulation of the TRX2 antioxidant pathway. |
| 24547929 | The initial presenting features of CERKL-related retinopathy are distinct and unusual. Recognition of this initial presenting phenotype can facilitate earlier molecular diagnosis and genetic counseling. |
| 21508105 | An unexpected multiplicity of CERKL transcriptional start sites (four in each species) plus a high variety of alternative splicing events primarily affecting the 5' half of the gene generate >20 fully validated mRNA isoforms in human and 23 in mouse. |
| 20801516 | Observational study of genetic testing. (HuGE Navigator) |
| 20677014 | Observational study of gene-disease association. (HuGE Navigator) |
| 20628086 | Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) |
| 20591486 | Observational study of genetic testing. (HuGE Navigator) |
| 20379614 | Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 19913121 | Observational study of gene-disease association. (HuGE Navigator) |
| More... |
MPWRRRRNRVSALEGGREEEAPPEAAAVPPALLTSPQQTEAAAERILLRGIFEIGRDSCDVVLSERALRW 1 - 70 RPIQPERPAGDSKYDLLCKEEFIELKDIFSVKLKRRCSVKQQRSGTLLGITLFICLKKEQNKLKNSTLDL 71 - 140 INLSEDHCDIWFRQFKKILAGFPNRPKSLKILLNPQSHKKEATQVYYEKVEPLLKLAGIKTDVTIMEYEG 141 - 210 HALSLLKECELQGFDGGHRKPLFAIHWSVQRLFTGMQTLEPSVVCVGGDGSASEVAHALLLRAQKNAGME 211 - 280 TDRILTPVRAQLPLGLIPAGSTNVLAHSLHGVPHVITATLHIIMGHVQLVDVCTFSTAGKLLRFGFSAMF 281 - 350 GFGGRTLALAEKYRWMSPNQRRDFAVVKALAKLKAEDCEISFLPFNSSDDVQERRAQGSPKSDCNDQWQM 351 - 420 IQGQFLNVSIMAIPCLCSVAPRGLAPNTRLNNGSMALIIARNTSRPEFIKHLKRYASVKNQFNFPFVETY 421 - 490 TVEEVKVHPRNNTGGYNPEEEEDETASENCFPWNVDGDLMEVASEVHIRLHPRLISLYGGSMEEMIPK 491 - 558 //
| PMID | Year | Title |
|---|---|---|
| 26296657 | 2015 | pVHL interacts with Ceramide kinase like (CERKL) protein and ubiquitinates it for oxygen dependent proteasomal degradation. |
| 24735978 | 2014 | CERKL interacts with mitochondrial TRX2 and protects retinal cells from oxidative stress-induced apoptosis. |
| 24547929 | 2015 | Rod-Cone Dystrophy with Initially Preserved Visual Acuity Despite Early Macular Involvement Suggests Recessive CERKL Mutations. |
| 24023788 | 2013 | Gene network analysis in a pediatric cohort identifies novel lung function genes. |
| 21738480 | 2011 | Multiple loci are associated with white blood cell phenotypes. |
| 21508105 | 2011 | High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse. |
| 20801516 | 2011 | Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. |
| 20677014 | 2010 | An approach based on a genome-wide association study reveals candidate loci for narcolepsy. |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. |
| 20591486 | 2010 | Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. |
| More... |
