Cln5 ceroid-lipofuscinosis, neuronal 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cln5provided by MGI
Official Full Name: ceroid-lipofuscinosis, neuronal 5provided by MGI
Primary source: MGI:MGI:2442253
See related: Ensembl:ENSMUSG00000022125 AllianceGenome:MGI:2442253
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: A730075N08Rik
Summary: Predicted to enable hydrolase activity, acting on glycosyl bonds and mannose binding activity. Acts upstream of or within lysosome organization and visual perception. Located in lysosome and vacuolar lumen. Is expressed in several structures, including central nervous system; genitourinary system; liver; retina; and spleen. Used to study neuronal ceroid lipofuscinosis 5. Human ortholog(s) of this gene implicated in neuronal ceroid lipofuscinosis 5. Orthologous to human CLN5 (CLN5 intracellular trafficking protein). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in adrenal adult (RPKM 17.5), colon adult (RPKM 14.0) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 E2.3; 14 51.71 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (103307679..103315064)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (103070216..103077630)

Chromosome 14 - NC_000080.7 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?

Results show that loss of CLN5 triggers alterations in development and defects in embryonic interneurons. This may occur through increased binding of REST to Gad1. The study presents evidence that CLN5 functions as a critical modulator of key parameters required for proper neuronal development and maturation, and that the neurodegenerative processes of CLN5 disease pathophysiology have a neurodevelopmental component.
Title: Loss of Cln5 leads to altered Gad1 expression and deficits in interneuron development in mice.
Quantification revealed that the amounts of 12 different soluble lysosomal proteins were significantly reduced in Cln7 ko MEFs compared with wild-type controls. One of the most significantly depleted lysosomal proteins was Cln5 protein that underlies another distinct neuronal ceroid lipofuscinosis disorder
Title: Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation.
neurogenesis is increased in Cln5-deficient mice, which model the childhood neurodegenerative disorder caused by loss of Cln5.
Title: Loss of Cln5 causes altered neurogenesis in a mouse model of a childhood neurodegenerative disorder.
Rssults suggested that CLN2, CLN3 and CLN5 genes may play an important role in early embryonal neurogenesis.
Title: Neuronal ceroid lipofuscinosis genes, CLN2, CLN3 and CLN5 are spatially and temporally co-expressed in a developing mouse brain.
The simultaneous loss of both Cln1 and Cln5 genes might enhance the typical pathological phenotypes of these mice by disrupting or downregulating shared or convergent pathogenic pathways.
Title: Exacerbated neuronal ceroid lipofuscinosis phenotype in Cln1/5 double-knockout mice.
In Cln5-deficient mice, early and significant microglial activation is documented that is already evident at 3 months of age; it increases gradually with age and differs between neurons and glia, with the highest expression in microglia.
Title: Cln5-deficiency in mice leads to microglial activation, defective myelination and changes in lipid metabolism.
Study found that CLN5 interacts with several other NCL proteins namely, CLN1/PPT1, CLN2/TPP1, CLN3, CLN6 and CLN8.
Title: Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins.
These data provide unexpected evidence for a distinctive sequence of neuron loss in the thalamocortical system of Cln5-/- mice, diametrically opposed to that seen in other forms of NCL.
Title: Progressive thalamocortical neuron loss in Cln5 deficient mice: Distinct effects in Finnish variant late infantile NCL.
In mouse cerebral cortex, microinjection of VEGF-A disrupted CLN-5 and OCLN and induced loss of barrier function
Title: VEGF-mediated disruption of endothelial CLN-5 promotes blood-brain barrier breakdown.
because the role of the functionally uncharacterized Cln5 protein remains unclear these studies may offer clues to the unraveling of its possible function(s)
Title: Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

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

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

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables bis(monoacylglycero)phosphate synthase activity	ISO Inferred from Sequence Orthology more info
enables hydrolase activity, acting on glycosyl bonds	IBA Inferred from Biological aspect of Ancestor more info
enables long-chain fatty acyl-CoA hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables long-chain fatty acyl-CoA hydrolase activity	ISO Inferred from Sequence Orthology more info
enables mannose binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in glycosylation	ISO Inferred from Sequence Orthology more info
involved_in lysosomal lumen acidification	ISO Inferred from Sequence Orthology more info
involved_in lysosome organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within lysosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of GTP binding	ISO Inferred from Sequence Orthology more info
involved_in retrograde transport, endosome to Golgi	ISO Inferred from Sequence Orthology more info
involved_in signal peptide processing	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within visual perception	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
is_active_in lysosomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	ISO Inferred from Sequence Orthology more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in vacuolar lumen	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: bis(monoacylglycero)phosphate synthase CLN5

Names: BMP synthase CLN5; S-depalmitoylase CLN5; ceroid-lipofuscinosis neuronal protein 5 homolog; palmitoyl protein thioesterase CLN5

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.