Homo sapiens Gene: CLN5
Summary
InnateDB Gene IDBG-39320.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CLN5
Gene Name ceroid-lipofuscinosis, neuronal 5
Synonyms NCL;
Species Homo sapiens
Ensembl Gene ENSG00000102805
Encoded Proteins
ceroid-lipofuscinosis, neuronal 5
ceroid-lipofuscinosis, neuronal 5
ceroid-lipofuscinosis, neuronal 5
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 13:76990660-77002517
Strand Forward strand
Band q22.3
Transcripts
ENST00000377453 ENSP00000366673
ENST00000485938 ENSP00000482959
ENST00000616833 ENSP00000479547
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 37 experimentally validated interaction(s) in this database.
Experimentally validated
Total 37 [view]
Protein-Protein 36 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0005537 mannose binding
Biological Process
GO:0006465 signal peptide processing
GO:0007040 lysosome organization
GO:0007042 lysosomal lumen acidification
GO:0007420 brain development
GO:0007601 visual perception
GO:0008219 cell death
GO:0022008 neurogenesis
GO:0030163 protein catabolic process
GO:0042551 neuron maturation
GO:0070085 glycosylation
Cellular Component
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005775 vacuolar lumen
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0016021 integral component of membrane
GO:0048471 perinuclear region of cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Lysosome pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 1203
UniGene
RefSeq NM_006493
HUGO HGNC:2076
OMIM 608102
CCDS CCDS9456
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas 1203