InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CLN5

Summary

InnateDB Protein

IDBP-39322.6

Last Modified

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

Gene Symbol

CLN5

Protein Name

ceroid-lipofuscinosis, neuronal 5

Synonyms

NCL;

Species

Homo sapiens

Ensembl Protein

ENSP00000366673

InnateDB Gene

IDBG-39320 (CLN5)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Lysosome {ECO:0000269PubMed:11971870}.

Disease Associations

Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731]: 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 lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 5 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. {ECO:0000269PubMed:15728307, ECO:0000269PubMed:16814585, ECO:0000269PubMed:17607606, ECO:0000269PubMed:19309691, ECO:0000269PubMed:21990111, ECO:0000269PubMed:9662406}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous.

Comments

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