CLN3 Gene Summary [Human]
This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | CLN3 |
| Official Name | CLN3 lysosomal/endosomal transmembrane protein, battenin [Source:HGNC Symbol;Acc:HGNC:2074] |
| Ensembl ID | ENSG00000188603 |
| Bio databases IDs | |
| Aliases | CLN3 lysosomal/endosomal transmembrane protein, battenin, juvenile neuronal ceroid lipofuscinosis |
| Synonyms | AI323623, BTN1, BTS, CLN3 lysosomal/endosomal transmembrane protein, battenin, JNCL, LOC100047702 |
| 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 CLN3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- glycolipid transporter
- calcium-dependent protein binding
- lipid binding
- binding protein
- cytoplasmic domain
- cytoplasmic loop
- CLN3 protein
- tail domain
- protein binding
- loop domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- acute myeloid leukemia
- hepatocellular carcinoma
- insulin-dependent diabetes mellitus
- epithelial cancer
- non-insulin-dependent diabetes mellitus
- inflammatory bowel disease
- CLN3 disease
- neuronal ceroid lipofuscinosis
- cone-rod dystrophy
- juvenile neuronal ceroid lipofuscinosis
role in cell
- apoptosis
- expression in
- growth
- morphology
- number
- cell viability
- accumulation in
- phosphorylation in
- quantity
- activation
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
- microsomal fraction
- cellular membrane
- Nucleus
- Plasma Membrane
- endosomes
- vesicles
- lysosome
- Golgi Apparatus
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- caveolae
- Golgi membrane
- Golgi stacks
- trans Golgi network
- lysosome membrane
- lysosomal compartment
- endosomal membrane
- synaptic vesicles
- neurites
- autophagic vacuoles
- recycling endosomes
- early endosomes
- late endosomes
- cytoplasmic vesicles
- autolysosomes
- membrane rafts
- axons
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CLN3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of Golgi to plasma membrane protein transport
- cellular water homeostasis
- regulation of arginine biosynthetic process
- negative regulation of proteolysis
- associative learning
- glycolipid transport
- learning or memory
- negative regulation of neuron apoptotic process
- regulation of filopodium assembly
- vesicle transport along microtubule
- regulation of action potential
- ionotropic glutamate receptor signaling pathway
- lysosomal lumen pH elevation
- regulation of synaptic transmission, GABAergic
- regulation of synaptic transmission, glutamatergic
- positive regulation of caveolin-mediated endocytosis
- amyloid precursor protein catabolic process
- membrane organization
- lysosome organization
- lysosomal lumen acidification
- cytosolic calcium ion homeostasis
- phagosome-lysosome docking
- phagosome-lysosome fusion
- blood vessel endothelial cell migration
- Golgi to lysosome transport
- receptor-mediated endocytosis
- positive regulation of pinocytosis
- regulation of cytoskeleton organization
- negative regulation of apoptotic process
- positive regulation of protein phosphorylation
- glycerophospholipid biosynthetic process
- protein processing
- regulation of autophagic vacuole size
- ceramide transport
- regulation of short-term neuronal synaptic plasticity
- actin cytoskeleton organization
- neuromuscular process controlling balance
- protein localization in plasma membrane
- regulation of fibroblast migration
- regulation of protein processing
Cellular Component
Where in the cell the gene product is active
- synaptic vesicle
- late endosome
- Golgi membrane
- endoplasmic reticulum
- Golgi apparatus
- neuron projection
- Golgi stack
- lysosomal membrane
- autophagic vacuole
- plasma membrane
- lysosome
- early endosome membrane
- endoplasmic reticulum membrane
- nucleus
- late endosome membrane
- early endosome
- trans-Golgi network
- caveola
- cytoplasm
- membrane raft
- membrane
- cytosol
- recycling endosome
Molecular Function
What the gene product does at the molecular level
- protein binding
- glycolipid binding
- calcium-dependent protein binding
- glycolipid transporter activity