Human Gene CERKL (ENST00000409440.7) Description and Page Index
Description: Homo sapiens ceramide kinase like (CERKL), transcript variant 7, mRNA. (from RefSeq NM_001160277) RefSeq Summary (NM_001160277): 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]. Gencode Transcript: ENST00000409440.7 Gencode Gene: ENSG00000188452.14 Transcript (Including UTRs) Position: hg38 chr2:181,537,405-181,657,107 Size: 119,703 Total Exon Count: 13 Strand: - Coding Region Position: hg38 chr2:181,538,184-181,657,006 Size: 118,823 Coding Exon Count: 13
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;
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.