CLN5

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]

CLN5, Intracellular Trafficking Protein

Plays a role in influencing the retrograde trafficking of lysosomal sorting receptors SORT1 and IGF2R from the endosomes to the trans-Golgi network by controlling the recruitment of retromer complex to the endosomal membrane. Regulates the localization and activation of RAB7A which is required to recruit the retromer complex to the endosomal membrane (PubMed:22431521).

Brain development Source: UniProtKB
Glycosylation Source: UniProtKB
Lysosomal lumen acidification Source: UniProtKB
Lysosome organization Source: GO_Central
Neurogenesis Source: UniProtKB
Neuron maturation Source: UniProtKB
Positive regulation of GTP binding Source: UniProtKB
Protein catabolic process Source: UniProtKB
Retrograde transport, endosome to Golgi Source: UniProtKB
Signal peptide processing Source: UniProtKB

Ceroid-lipofuscinosis neuronal protein 5, secreted form: Lysosome
Ceroid-lipofuscinosis neuronal protein 5: Membrane. An amphipathic anchor region facilitates its association with the membrane.

Ceroid lipofuscinosis, neuronal, 5 (CLN5):
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.

Cytoplasmic: 1-23
Helical: 24-41
Lumenal: 42-358

N-glycosylated with both high mannose and complex type sugars. Glycosylation is important for proper folding and trafficking to the lysosomes.
Ceroid-lipofuscinosis neuronal protein 5:
The type II membrane signal anchor is proteolytically cleaved to produce a mature form that is transported to the lysosomes (Ceroid-lipofuscinosis neuronal protein 5, secreted form) (PubMed:24038957, PubMed:20052765).
Can undergo proteolytic cleavage at the C-terminus, probably by a cysteine protease and may involve the removal of approximately 10-15 residues from the C-terminal end (PubMed:26342652).