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

Summary

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 (CERK like autophagy regulator). [provided by Alliance of Genome Resources, Dec 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

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_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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.

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Variation

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Alleles

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

Endonuclease-mediated (2) 1 citation
Targeted (4) 1 citation

General gene information

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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
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 membrane	IEA Inferred from Electronic Annotation 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)

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

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

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.