InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CLN3

Summary

InnateDB Protein

IDBP-22418.6

Last Modified

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

Gene Symbol

CLN3

Protein Name

ceroid-lipofuscinosis, neuronal 3

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000353073

InnateDB Gene

IDBG-22402 (CLN3)

Protein Structure

UniProt Annotation

Function

Involved in microtubule-dependent, anterograde transport of late endosomes and lysosomes. {ECO:0000269PubMed:22261744}.

Subcellular Localization

Lysosome membrane; Multi-pass membrane protein. Late endosome.

Disease Associations

Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200]: A form of neuronal ceroid lipofuscinosis. 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 hallmark of CLN3 is the ultrastructural pattern of lipopigment with a fingerprint profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with neuronal ceroid lipofuscinosis type 3. {ECO:0000269PubMed:21990111, ECO:0000269PubMed:9311735, ECO:0000269PubMed:9490299}. 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 89 experimentally validated interaction(s) in this database.

Experimentally validated
Total	89 [view]
Protein-Protein	89 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0051082	unfolded 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:0006898	receptor-mediated endocytosis
GO:0007034	vacuolar transport
GO:0007040	lysosome organization
GO:0007042	lysosomal lumen acidification
GO:0008219	cell death
GO:0008306	associative learning
GO:0015809	arginine transport
GO:0016236	macroautophagy
GO:0016242	negative regulation of macroautophagy
GO:0016485	protein processing
GO:0030163	protein catabolic process
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:0005739	mitochondrion
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:0043005	neuron projection
GO:0045121	membrane raft

Protein Structure and Domains

PDB ID

InterPro

IPR003492 Batten\'s disease protein Cln3
IPR016196 Major facilitator superfamily domain, general substrate transporter
IPR018460 Batten\'s disease protein Cln3, subgroup

PFAM

PF02487

PRINTS

PR01315

PIRSF

PIRSF015974

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt