CLN5 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | CLN5 |
| Official Name | CLN5 intracellular trafficking protein [Source:HGNC Symbol;Acc:HGNC:2076] |
| Ensembl ID | ENSG00000102805 |
| Bio databases IDs | |
| Aliases | CLN5 intracellular trafficking protein |
| Synonyms | A730075N08Rik, ceroid-lipofuscinosis, neuronal 5, CLN5 intracellular trafficking protein, CLN5, intracellular trafficking protein |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CLN5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ceroid-lipofuscinosis neuronal protein 5
- enzyme
- protein binding
- Non-amino-acyl group acyltransferase
- acyl-CoA hydrolase
- mannose binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- perinuclear region
- cellular membrane
- vacuole
- lysosome
- Golgi Apparatus
- Endoplasmic Reticulum
- lysosome membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CLN5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glycosylation
- lysosome organization
- protein catabolic process
- lysosomal lumen acidification
- signal peptide processing
- neuron maturation
- neurogenesis
- brain development
- retrograde transport, endosome to Golgi
- visual perception
Cellular Component
Where in the cell the gene product is active
- perinuclear region of cytoplasm
- extracellular vesicular exosome
- membrane
- cytosol
- endoplasmic reticulum
- Golgi apparatus
- lysosomal membrane
- vacuolar lumen
- lysosome
Molecular Function
What the gene product does at the molecular level
- protein binding
- mannose binding
- long-chain acyl-CoA hydrolase activity
- hydrolase activity, acting on glycosyl bonds