Description: Homo sapiens ceramide kinase-like (CERKL), transcript variant 6, non-coding RNA. RefSeq Summary (NR_027690): 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]. Transcript (Including UTRs) Position: hg19 chr2:182,401,401-182,521,834 Size: 120,434 Total Exon Count: 12 Strand: - Coding Region Position: hg19 chr2:182,402,911-182,423,356 Size: 20,446 Coding Exon Count: 9
ID:CERKL_HUMAN DESCRIPTION: RecName: Full=Ceramide kinase-like protein; FUNCTION: Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions. SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nucleolus. Note=Enriched in nucleoli. May shuttle between nucleus and cytoplasm. Isoform 5 is not enriched in the nucleoli. SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Nucleus, nucleolus. Golgi apparatus, trans-Golgi network. Endoplasmic reticulum. TISSUE SPECIFICITY: 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. DEVELOPMENTAL STAGE: Expressed in fetal lung, kidney and brain. PTM: Phosphorylated on serine residues. 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. SIMILARITY: Contains 1 DAGKc domain. SEQUENCE CAUTION: Sequence=BAC85266.1; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=CAG26980.1; Type=Frameshift; Positions=Several;
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): CERKL CDC HuGE Published Literature: CERKL Positive Disease Associations: Isoxazoles Related Studies:
Isoxazoles S Volpi et al. Molecular psychiatry 2009, Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia., Molecular psychiatry.
[PubMed 18521091]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q49MI3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0008152 metabolic process GO:0016310 phosphorylation GO:0030148 sphingolipid biosynthetic process GO:0043066 negative regulation of apoptotic process
US Server
