Cln8 CLN8 transmembrane ER and ERGIC protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cln8provided by MGI
Official Full Name: CLN8 transmembrane ER and ERGIC proteinprovided by MGI
Primary source: MGI:MGI:1349447
See related: Ensembl:ENSMUSG00000026317 AllianceGenome:MGI:1349447
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: mnd; Tlcd6
Summary: Predicted to enable ceramide binding activity. Acts upstream of or within several processes, including adult walking behavior; glutamate reuptake; and neurofilament cytoskeleton organization. Located in endoplasmic reticulum. Is expressed in several structures, including adrenal gland; gonad; hemolymphoid system gland; nervous system; and retina. Used to study neuronal ceroid lipofuscinosis 8. Human ortholog(s) of this gene implicated in neuronal ceroid lipofuscinosis 8 and neuronal ceroid lipofuscinosis 8 northern epilepsy variant. Orthologous to human CLN8 (CLN8 transmembrane ER and ERGIC protein). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in placenta adult (RPKM 3.6), spleen adult (RPKM 3.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 A1.1; 8 7.59 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (14931335..14951720)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (14881335..14901720)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer.
Title: A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer.
Ceroid-lipofuscinosis neuronal 8 protein (Cln8) knockout strain, which bears an early frameshift mutation in Cln8 that causes CLN8 protein deficiency and features resembling those seen in Batten disease.
Title: CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis.
This study demonistrated that Selective spatiotemporal patterns of glial activation and neuron loss in the sensory thalamocortical pathways in neuronal ceroid lipofuscinosis 8 decifiency mice.
Title: Selective spatiotemporal patterns of glial activation and neuron loss in the sensory thalamocortical pathways of neuronal ceroid lipofuscinosis 8 mice.
The amount of myelin was reduced in 1-month-old Cln8(mnd) mice, but reached normal levels by 5 months of age. The level of Cln8 gene expression followed the developmental pattern of myelin formation and was high in primary oligodendrocytes.
Title: Galactolipid deficiency in the early pathogenesis of neuronal ceroid lipofuscinosis model Cln8mnd : implications to delayed myelination and oligodendrocyte maturation.
This study demonistrated that the changes in glutamate receptor expression in the hippocampus of the mnd mouse.
Title: Increased [³H]D-aspartate release and changes in glutamate receptor expression in the hippocampus of the mnd mouse.
Mutations in mouse CLN8 gene show marked deficiency of mitochondrial Ca2+ clearance in Cln8mnd neurons, and the heightened vulnerability of these neurons to excitotoxic effects of glutamate.
Title: Deficient mitochondrial Ca(2+) buffering in the Cln8(mnd) mouse model of neuronal ceroid lipofuscinosis.
The mnd mouse mutation in CLN8 leads to progressive behavioral abnormalities prior to the onset of gross motor symptoms, linking the mutation via pathology to a quantifiable behavioral phenotype.
Title: The development of behavioral abnormalities in the motor neuron degeneration (mnd) mouse.
Expression of Cln8 in the developing and mature brain suggests roles for Cln8 in maturation, differentiation and supporting the survival of different neuronal populations.
Title: The neuronal ceroid lipofuscinosis Cln8 gene expression is developmentally regulated in mouse brain and up-regulated in the hippocampal kindling model of epilepsy.
Mutations in the CLN8 gene underlie Northern epilepsy and a subset of Turkish variant late infantile NCL. Inducing disease mutations in a mouse hippocampal neuronal cell line did not affect localization of CLN8.
Title: Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells.
A marked increase in astroglial and microglial cells, and in TNF receptor TNFR-I immunoreactivity was observed in the spinal cord of motor neuron degeneration mutation (mnd) mice at the age of 4 month.
Title: Glial activation and TNFR-I upregulation precedes motor dysfunction in the spinal cord of mnd mice.

Submit: New GeneRIF Correction

Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:235841

Cln8 (e-PCR), detects polymorphism
- UniSTS:526215

Cln8 (e-PCR), detects polymorphism
- UniSTS:526216

RH135621 (e-PCR)
- UniSTS:209824

D6S1721 (e-PCR), detects polymorphism
- UniSTS:24785

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ceramide binding	IBA Inferred from Biological aspect of Ancestor more info
enables ceramide binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within adult locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within adult walking behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within associative learning	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ceramide metabolic process	ISO Inferred from Sequence Orthology more info
involved_in cholesterol metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within glutamate reuptake	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid homeostasis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within lysosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within macromolecule catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mitochondrial membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within musculoskeletal movement	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of transferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in nervous system development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neurofilament cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular process controlling balance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular process controlling posture	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phospholipid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within phospholipid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phospholipid metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within photoreceptor cell maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of cell size	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of retinal rod cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within social behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within somatic motor neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spinal cord motor neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within visual perception	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum-Golgi intermediate compartment	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein CLN8

Names: ceroid-lipofuscinosis, neuronal 8; motor neuron degeneration

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_001425024.1 → NP_001411953.1 protein CLN8

Status: VALIDATED

Source sequence(s)

AC108844

UniProtKB/Swiss-Prot

Q9QUK3

UniProtKB/TrEMBL

Q542J5
NM_001425025.1 → NP_001411954.1 protein CLN8

Status: VALIDATED

Source sequence(s)

AC108844

UniProtKB/Swiss-Prot

Q9QUK3

UniProtKB/TrEMBL

Q542J5
NM_012000.4 → NP_036130.1 protein CLN8

See identical proteins and their annotated locations for NP_036130.1

Status: VALIDATED

Source sequence(s)

AC108844

Consensus CDS

CCDS40239.1

UniProtKB/Swiss-Prot

Q9QUK3

UniProtKB/TrEMBL

Q542J5, Q8BNW2

Related

ENSMUSP00000027554.8, ENSMUST00000027554.8

Conserved Domains (1) summary

smart00724
Location:64 → 262

TLC; TRAM, LAG1 and CLN8 homology domains