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
Disease | Target Count | Z-score | Confidence |
---|---|---|---|
cone-rod dystrophy | 60 | 4.696 | 2.3 |
Fundus dystrophy | 77 | 3.836 | 1.9 |
Bacillary angiomatosis | 7 | 3.552 | 1.8 |
Cone dystrophy | 59 | 3.417 | 1.7 |
Disease | Target Count |
---|---|
Retinitis pigmentosa | 156 |
Retinitis pigmentosa 26 | 1 |
Species | Source |
---|---|
Chimp | OMA EggNOG |
Macaque | OMA EggNOG Inparanoid |
Mouse | OMA EggNOG Inparanoid |
Rat | OMA EggNOG |
Dog | OMA EggNOG Inparanoid |
Horse | OMA EggNOG Inparanoid |
Cow | OMA EggNOG |
Pig | OMA Inparanoid |
Opossum | OMA EggNOG Inparanoid |
Platypus | OMA EggNOG |
Chicken | OMA EggNOG |
Xenopus | OMA EggNOG |
Zebrafish | OMA EggNOG |
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) |
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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. |
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