InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CLN8

Summary

InnateDB Protein

IDBP-5425.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CLN8

Protein Name

ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)

Synonyms

C8orf61; EPMR;

Species

Homo sapiens

Ensembl Protein

ENSP00000328182

InnateDB Gene

IDBG-5421 (CLN8)

Protein Structure

UniProt Annotation

Function

Could play a role in cell proliferation during neuronal differentiation and in protection against cell death. {ECO:0000269PubMed:19431184}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000269PubMed:10861296}; Multi-pass membrane protein {ECO:0000269PubMed:10861296}. Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000269PubMed:10861296}; Multi-pass membrane protein {ECO:0000269PubMed:10861296}.

Disease Associations

Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143]: A form of neuronal ceroid lipofuscinosis with onset in childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 8 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. {ECO:0000269PubMed:15024724, ECO:0000269PubMed:16570191, ECO:0000269PubMed:19201763, ECO:0000269PubMed:19431184, ECO:0000269PubMed:21990111}. Note=The disease is caused by mutations affecting the gene represented in this entry.Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8NE) [MIM:610003]: A form of neuronal ceroid lipofuscinosis clinically characterized by epilepsy that presents between 5 and 10 years of age with frequent tonic-clonic seizures followed by progressive mental retardation. Visual loss is not a prominent feature. Intracellular accumulation of autofluorescent material results in curvilinear and granular profiles on ultrastructural analysis. {ECO:0000269PubMed:10508524, ECO:0000269PubMed:21990111}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 31 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	31 [view]
Protein-Protein	31 [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

Biological Process

GO:0001306	age-dependent response to oxidative stress
GO:0006644	phospholipid metabolic process
GO:0006672	ceramide metabolic process
GO:0006869	lipid transport
GO:0007006	mitochondrial membrane organization
GO:0007040	lysosome organization
GO:0007399	nervous system development
GO:0007601	visual perception
GO:0007628	adult walking behavior
GO:0008203	cholesterol metabolic process
GO:0008219	cell death
GO:0008306	associative learning
GO:0008344	adult locomotory behavior
GO:0008361	regulation of cell size
GO:0008610	lipid biosynthetic process
GO:0021522	spinal cord motor neuron differentiation
GO:0021523	somatic motor neuron differentiation
GO:0030163	protein catabolic process
GO:0035176	social behavior
GO:0043066	negative regulation of apoptotic process
GO:0044257	cellular protein catabolic process
GO:0044265	cellular macromolecule catabolic process
GO:0044267	cellular protein metabolic process
GO:0045494	photoreceptor cell maintenance
GO:0045861	negative regulation of proteolysis
GO:0046513	ceramide biosynthetic process
GO:0050881	musculoskeletal movement
GO:0050884	neuromuscular process controlling posture
GO:0050885	neuromuscular process controlling balance
GO:0051348	negative regulation of transferase activity
GO:0051935	L-glutamate uptake involved in synaptic transmission
GO:0060041	retina development in camera-type eye
GO:0060052	neurofilament cytoskeleton organization

Cellular Component

GO:0005739	mitochondrion
GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment
GO:0016021	integral component of membrane
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane