Version 5.4
Mus musculus Gene: Cln3
Summary
InnateDB Gene IDBG-209626.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Cln3
Gene Name ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)
Synonyms AI323623
Species Mus musculus
Ensembl Gene ENSMUSG00000030720
Encoded Proteins
IDBP-209628
ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)
IDBP-209630
ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)
IDBP-209632
ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)
IDBP-274535
ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)
IDBP-790010
ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)
IDBP-532620
ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)
IDBP-536063
ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)
IDBP-531859
ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)
IDBP-536181
ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)
IDBP-531576
ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000188603:
This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:126571207-126585817
Strand Reverse strand
Band F3
Transcripts
ENSMUST00000032962 ENSMUSP00000032962
ENSMUST00000084589 ENSMUSP00000081636
ENSMUST00000098036 ENSMUSP00000095644
ENSMUST00000116269 ENSMUSP00000111973
ENSMUST00000138285
ENSMUST00000139766
ENSMUST00000124177
ENSMUST00000153790
ENSMUST00000128225
ENSMUST00000150917 ENSMUSP00000138688
ENSMUST00000128970 ENSMUSP00000114901
ENSMUST00000125508 ENSMUSP00000117561
ENSMUST00000134246
ENSMUST00000134406
ENSMUST00000134498
ENSMUST00000150587 ENSMUSP00000118054
ENSMUST00000150311 ENSMUSP00000116160
ENSMUST00000147086 ENSMUSP00000114555
ENSMUST00000128049
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 44 interaction(s) predicted by orthology.
Predicted by orthology
Total 44 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0048306 calcium-dependent protein binding
Biological Process
GO:0000046 autophagic vacuole fusion
GO:0001508 action potential
GO:0001575 globoside metabolic process
GO:0006520 cellular amino acid metabolic process
GO:0006672 ceramide metabolic process
GO:0006678 glucosylceramide metabolic process
GO:0006681 galactosylceramide metabolic process
GO:0006684 sphingomyelin metabolic process
GO:0006865 amino acid transport
GO:0006898 receptor-mediated endocytosis
GO:0007034 vacuolar transport
GO:0007040 lysosome organization
GO:0007042 lysosomal lumen acidification
GO:0008306 associative learning
GO:0010468 regulation of gene expression
GO:0015809 arginine transport
GO:0016236 macroautophagy
GO:0016242 negative regulation of macroautophagy
GO:0016485 protein processing
GO:0035235 ionotropic glutamate receptor signaling pathway
GO:0035752 lysosomal lumen pH elevation
GO:0042133 neurotransmitter metabolic process
GO:0042987 amyloid precursor protein catabolic process
GO:0043066 negative regulation of apoptotic process
GO:0043086 negative regulation of catalytic activity
GO:0043524 negative regulation of neuron apoptotic process
GO:0045861 negative regulation of proteolysis
GO:0047496 vesicle transport along microtubule
GO:0050885 neuromuscular process controlling balance
GO:0051480 cytosolic calcium ion homeostasis
GO:0061024 membrane organization
Cellular Component
GO:0000139 Golgi membrane
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005769 early endosome
GO:0005770 late endosome
GO:0005776 autophagic vacuole
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005795 Golgi stack
GO:0005802 trans-Golgi network
GO:0005886 plasma membrane
GO:0005901 caveola
GO:0008021 synaptic vesicle
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0031301 integral component of organelle membrane
GO:0031410 cytoplasmic vesicle
GO:0043005 neuron projection
GO:0045121 membrane raft
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000188603
View Gene Order
ENSBTAG00000018000
Not yet available
Pathways
NETPATH
REACTOME
KEGG
mmu04142
Lysosome pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
KEGG
hsa04142
Lysosome pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL D3YUU4 D3YVA8 D3YZN0 D3Z6L5
UniProt Splice Variant
Entrez Gene 12752
UniGene Mm.268930
RefSeq NM_001146311 NM_009907 XM_006507289 XM_006507290 XM_006507291 XM_006507292
OMIM
CCDS CCDS21833
HPRD
IMGT
MGI ID MGI:107537
MGI Symbol Cln3
EMBL AC125169
GenPept
RNA Seq Atlas 12752

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca