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Cerkl ceramide kinase-like [ Mus musculus (house mouse) ]

Gene ID: 228094, updated on 2-Nov-2024

Summary

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Official Symbol
Cerklprovided by MGI
Official Full Name
ceramide kinase-likeprovided by MGI
Primary source
MGI:MGI:3037816
See related
Ensembl:ENSMUSG00000075256 AllianceGenome:MGI:3037816
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Rp26; Gm1958
Summary
Enables sphingolipid binding activity. Acts upstream of or within sphingolipid biosynthetic process. Located in several cellular components, including perinuclear region of cytoplasm; photoreceptor inner segment; and photoreceptor outer segment. Is expressed in eye and optic nerve. Used to study retinitis pigmentosa 26. Human ortholog(s) of this gene implicated in retinitis pigmentosa and retinitis pigmentosa 26. Orthologous to human CERKL (ceramide kinase like). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in liver E14.5 (RPKM 8.1), liver E14 (RPKM 7.2) and 20 other tissues See more
Orthologs
human all
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Genomic context

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See Cerkl in Genome Data Viewer
Location:
2 C3; 2 47.43 cM
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (79162835..79259332, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (79332491..79428988, complement)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene heat shock protein 1 (chaperonin) pseudogene 14 Neighboring gene STARR-positive B cell enhancer mm9_chr2:79068188-79068489 Neighboring gene STARR-seq mESC enhancer starr_04928 Neighboring gene STARR-positive B cell enhancer ABC_E7829 Neighboring gene STARR-positive B cell enhancer ABC_E5938 Neighboring gene predicted gene, 39866 Neighboring gene predicted gene, 35813 Neighboring gene STARR-seq mESC enhancer starr_04929 Neighboring gene STARR-positive B cell enhancer mm9_chr2:79105774-79106074 Neighboring gene STARR-seq mESC enhancer starr_04930 Neighboring gene integrin alpha 4 Neighboring gene STARR-seq mESC enhancer starr_04931 Neighboring gene STARR-seq mESC enhancer starr_04932 Neighboring gene STARR-seq mESC enhancer starr_04933 Neighboring gene STARR-positive B cell enhancer mm9_chr2:79210921-79211222 Neighboring gene predicted gene, 22606 Neighboring gene STARR-seq mESC enhancer starr_04934 Neighboring gene tubulin, beta 6 pseudogene Neighboring gene STARR-seq mESC enhancer starr_04935 Neighboring gene neurogenic differentiation 1 Neighboring gene predicted gene, 54165

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Targeted knockdown of Cerkl, a retinal dystrophy gene, causes mild affectation of the retinal ganglion cell layer. Garanto A, et al. Biochim Biophys Acta, 2012 Aug. PMID 22549043
  2. CERKL alleviates ischemia reperfusion-induced nervous system injury through modulating the SIRT1/PINK1/Parkin pathway and mitophagy induction. Huang S, et al. Biol Chem, 2022 Jun 27. PMID 35238502
  3. A New Cerkl Mouse Model Generated by CRISPR-Cas9 Shows Progressive Retinal Degeneration and Altered Morphological and Electrophysiological Phenotype. Domènech EB, et al. Invest Ophthalmol Vis Sci, 2020 Jul 1. PMID 32658961, Free PMC Article
  4. Exacerbated response to oxidative stress in the Retinitis Pigmentosa Cerkl(KD/KO) mouse model triggers retinal degeneration pathways upon acute light stress. García-Arroyo R, et al. Redox Biol, 2023 Oct. PMID 37660443, Free PMC Article
  5. High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse. Garanto A, et al. Invest Ophthalmol Vis Sci, 2011 Jul 13. PMID 21508105

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Exacerbated response to oxidative stress in the Retinitis Pigmentosa Cerkl[KD/KO] mouse model triggers retinal degeneration pathways upon acute light stress.
    Title: Exacerbated response to oxidative stress in the Retinitis Pigmentosa Cerkl(KD/KO) mouse model triggers retinal degeneration pathways upon acute light stress.
  2. CERKL, a Retinal Dystrophy Gene, Regulates Mitochondrial Transport and Dynamics in Hippocampal Neurons.
    Title: CERKL, a Retinal Dystrophy Gene, Regulates Mitochondrial Transport and Dynamics in Hippocampal Neurons.
  3. CERKL alleviates ischemia reperfusion-induced nervous system injury through modulating the SIRT1/PINK1/Parkin pathway and mitophagy induction.
    Title: CERKL alleviates ischemia reperfusion-induced nervous system injury through modulating the SIRT1/PINK1/Parkin pathway and mitophagy induction.
  4. CERKL, a retinal dystrophy gene, regulates mitochondrial function and dynamics in the mammalian retina.
    Title: CERKL, a retinal dystrophy gene, regulates mitochondrial function and dynamics in the mammalian retina.
  5. A New Cerkl Mouse Model Generated by CRISPR-Cas9 Shows Progressive Retinal Degeneration and Altered Morphological and Electrophysiological Phenotype.
    Title: A New Cerkl Mouse Model Generated by CRISPR-Cas9 Shows Progressive Retinal Degeneration and Altered Morphological and Electrophysiological Phenotype.
  6. In conclusion, the retina had the highest level of Cerkl mRNA and protein expression, which reached its maximum in the adult retina; and its expression decreased in NeuroD1 knock-out retina.
    Title: Expression and localization of CERKL in the mammalian retina, its response to light-stress, and relationship with NeuroD1 gene.
  7. Cerkl-/- knockdown shows a mild retinal phenotype, with increased levels of cellular stress and apoptosis indicators, and clear signs of functional alteration at the ganglion cell layer, but no detectable morphological changes.
    Title: Targeted knockdown of Cerkl, a retinal dystrophy gene, causes mild affectation of the retinal ganglion cell layer.
  8. 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.
    Title: High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse.
  9. The purpose of this work was to investigate alternative splicing, and the temporal and spatial expression pattern of CERKL in the mouse retina.
    Title: Spatiotemporal expression pattern of ceramide kinase-like in the mouse retina.
  10. This work shows that CerkL does not contribute to phosphorylation of Cer and has no impact on Cer and C16-C1P levels in the retina.
    Title: Wild-type levels of ceramide and ceramide-1-phosphate in the retina of ceramide kinase-like-deficient mice.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
NOT enables ceramide kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
NOT enables ceramide kinase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables lipid kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables sphingolipid binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of apoptotic process ISO
Inferred from Sequence Orthology
more info
  
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within sphingolipid biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in sphingolipid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
  
located_in nucleolus ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in photoreceptor inner segment IDA
Inferred from Direct Assay
more info
 PubMed 
located_in photoreceptor outer segment IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
ceramide kinase-like protein
Names
retinitis pigmentosa 26 (autosomal recessive)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001048176.1 → NP_001041641.1  ceramide kinase-like protein

    See identical proteins and their annotated locations for NP_001041641.1

    Status: VALIDATED

    Source sequence(s)
    BY742285, CJ130836, CJ235603, DT912627
    Consensus CDS
    CCDS38157.1
    UniProtKB/TrEMBL
    A2AQH1, G0XYF4
    Related
    ENSMUSP00000114325.2, ENSMUST00000143974.2
    Conserved Domains (2) summary
    PLN02204
    Location:113 → 513
    PLN02204; diacylglycerol kinase
    COG1597
    Location:154 → 510
    LCB5; Diacylglycerol kinase family enzyme [Lipid transport and metabolism, General function prediction only]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    79162835..79259332 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001033295.1: Suppressed sequence

    Description
    NM_001033295.1: This RefSeq was permanently suppressed because it contained the wrong CDS and was primarily intronic sequence.
Nucleotide Protein Strain
Heading Accession and Version

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