Version 5.4
Homo sapiens Gene: CLN6
Summary
InnateDB Gene IDBG-18915.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CLN6
Gene Name ceroid-lipofuscinosis, neuronal 6, late infantile, variant
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000128973
Encoded Proteins
IDBP-18917
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
IDBP-598448
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
IDBP-744627
IDBP-746667
IDBP-744551
IDBP-747796
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 15:68206992-68257211
Strand Reverse strand
Band q23
Transcripts
ENST00000249806 ENSP00000249806
ENST00000538696 ENSP00000445770
ENST00000567060 ENSP00000454818
ENST00000564752 ENSP00000457822
ENST00000564846
ENST00000565471 ENSP00000457384
ENST00000569336
ENST00000563917
ENST00000566347 ENSP00000457783
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0042803 protein homodimerization activity
Biological Process
GO:0001573 ganglioside metabolic process
GO:0007040 lysosome organization
GO:0007042 lysosomal lumen acidification
GO:0007601 visual perception
GO:0008203 cholesterol metabolic process
GO:0008219 cell death
GO:0030163 protein catabolic process
GO:0030203 glycosaminoglycan metabolic process
GO:0031987 locomotion involved in locomotory behavior
GO:0044265 cellular macromolecule catabolic process
GO:0045862 positive regulation of proteolysis
Cellular Component
GO:0005634 nucleus
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043231 intracellular membrane-bounded organelle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000032245
View Gene Order
ENSBTAG00000005565
Not yet available
Cross-References
SwissProt
TrEMBL H3BUV4
UniProt Splice Variant
Entrez Gene 54982
UniGene Hs.584921
RefSeq NM_017882
HUGO HGNC:2077
OMIM 606725
CCDS CCDS10227
HPRD 05991
IMGT
EMBL AC107871
GenPept
RNA Seq Atlas 54982

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