Property Summary

NCBI Gene PubMed Count 30
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)
19667359 Our data indicate that compound heterozygous mutations of CERKL can cause RP.
19578027 CERKL mutations are associated with widespread retinal degeneration with prominent maculopathy.
19501188 The Pleckstrin Homology (PH) domain of CERK, which is required for Golgi complex localization, can substitute for the N-terminal region of CERKL and allow for wild-type CERKL localization, which is typified by nucleolar accumulation.
19158957 Retinitis pigmentosa gene ceramide kinase-like (CERKL) was analyzed to determine CERKL function and contribution to pathogenesis.
18978954 This is the third reported mutation in CERKL causing retinal degeneration but is the first report to show that a single amino acid change in CERKL, rather than a null mutation, can cause retinal disease.
18521091 Genome-wide association study of gene-disease association. (HuGE Navigator)
18519826 Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18515597 This study presents the first genotype-phenotype correlation for persons carrying p.Arg257ter mutation and provides clues for a characteristic phenotype of these mutations among persons with autosomal recessive cases.
18055789 c.238+1G>A is the second reported mutation of CERKL and is a prevalent founder mutation that underlies approximately 33% of autosomal recessive retinal degeneration cases in the Yemenite Jewish population.
16581028 Identification of a nuclear localization signal that might be responsible for nucleolar retention of CERKL.
15708351 Data suggest a functional link between CERKL, a new ceramide kinase homolog, and its nucleolar localization.
14681825 Novel mutation in CERKL which encompassed 13 exons is identified in retinitis pigmentosa

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
//

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.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19667359 2009 Novel compound heterozygous mutations in CERKL cause autosomal recessive retinitis pigmentosa in a nonconsanguineous Chinese family.
19578027 2009 CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.
19501188 2009 Subcellular localization of ceramide kinase and ceramide kinase-like protein requires interplay of their Pleckstrin Homology domain-containing N-terminal regions together with C-terminal domains.
19158957 2009 Overexpression of CERKL, a gene responsible for retinitis pigmentosa in humans, protects cells from apoptosis induced by oxidative stress.
18978954 2008 A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.
18521091 2009 Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia.
18519826 2008 Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
18515597 2008 CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa.
18055789 2007 A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews.
16581028 2006 Identification of a nuclear localization signal in the retinitis pigmentosa-mutated RP26 protein, ceramide kinase-like protein.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15708351 2005 Characterization of a ceramide kinase-like protein.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14681825 2004 Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11956206 2002 Ceramide kinase, a novel lipid kinase. Molecular cloning and functional characterization.
9507394 1998 A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.