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

Knowledge Summary

Patent

No data available

Expression

Gene RIF (22)

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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AA Sequence

MPWRRRRNRVSALEGGREEEAPPEAAAVPPALLTSPQQTEAAAERILLRGIFEIGRDSCDVVLSERALRW      1 - 70
RPIQPERPAGDSKYDLLCKEEFIELKDIFSVKLKRRCSVKQQRSGTLLGITLFICLKKEQNKLKNSTLDL     71 - 140
INLSEDHCDIWFRQFKKILAGFPNRPKSLKILLNPQSHKKEATQVYYEKVEPLLKLAGIKTDVTIMEYEG    141 - 210
HALSLLKECELQGFDGGHRKPLFAIHWSVQRLFTGMQTLEPSVVCVGGDGSASEVAHALLLRAQKNAGME    211 - 280
TDRILTPVRAQLPLGLIPAGSTNVLAHSLHGVPHVITATLHIIMGHVQLVDVCTFSTAGKLLRFGFSAMF    281 - 350
GFGGRTLALAEKYRWMSPNQRRDFAVVKALAKLKAEDCEISFLPFNSSDDVQERRAQGSPKSDCNDQWQM    351 - 420
IQGQFLNVSIMAIPCLCSVAPRGLAPNTRLNNGSMALIIARNTSRPEFIKHLKRYASVKNQFNFPFVETY    421 - 490
TVEEVKVHPRNNTGGYNPEEEEDETASENCFPWNVDGDLMEVASEVHIRLHPRLISLYGGSMEEMIPK      491 - 558
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Text Mined References (31)

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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