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CLN3
Description
CLN3 lysosomal/endosomal transmembrane protein, battenin
Image
No pdb structure
GO Annotations
Cellular Component
Golgi Membrane
Nucleus
Cytoplasm
Lysosome
Lysosomal Membrane
Early Endosome
Late Endosome
Vacuole
Autophagosome
Endoplasmic Reticulum
Golgi Apparatus
Golgi Stack
Trans-Golgi Network
Cytosol
Plasma Membrane
Caveola
Synaptic Vesicle
Integral Component Of Membrane
Integral Component Of Endoplasmic Reticulum Membrane
Early Endosome Membrane
Late Endosome Membrane
Neuron Projection
Autolysosome
Membrane Raft
Recycling Endosome
Molecular Function
Protein Binding
Glycolipid Binding
Sulfatide Binding
Biological Process
Action Potential
Receptor-mediated Endocytosis
Lysosome Organization
Lysosomal Lumen Acidification
Learning Or Memory
Associative Learning
Cellular Water Homeostasis
Regulation Of Fibroblast Migration
Arginine Transport
Protein Processing
Regulation Of Synaptic Transmission, GABAergic
Ionotropic Glutamate Receptor Signaling Pathway
Lysosomal Lumen PH Elevation
Renal Potassium Excretion
Neurotransmitter Metabolic Process
Amyloid Precursor Protein Catabolic Process
Positive Regulation Of Golgi To Plasma Membrane Protein Transport
Negative Regulation Of Apoptotic Process
Negative Regulation Of Catalytic Activity
Negative Regulation Of Neuron Apoptotic Process
Plasma Membrane Raft Organization
Negative Regulation Of Proteolysis
Glycerophospholipid Biosynthetic Process
Glycolipid Transport
Vesicle Transport Along Microtubule
Regulation Of Short-term Neuronal Synaptic Plasticity
Positive Regulation Of Pinocytosis
Neuromuscular Process Controlling Balance
Regulation Of Intracellular PH
Regulation Of Cytosolic Calcium Ion Concentration
Regulation Of Cytoskeleton Organization
Regulation Of Synaptic Transmission, Glutamatergic
Membrane Organization
Autophagosome-lysosome Fusion
Regulation Of Protein Processing
Golgi To Lysosome Transport
Phagosome-lysosome Docking
Phagosome-lysosome Fusion
Autophagosome Maturation
Regulation Of Cellular Response To Osmotic Stress
Regulation Of Arginine Biosynthetic Process
Regulation Of Autophagosome Maturation
Regulation Of Protein Localization To Plasma Membrane
Lysosomal Protein Catabolic Process
Regulation Of Phagosome Maturation
Regulation Of Modification Of Synaptic Structure
Positive Regulation Of Caveolin-mediated Endocytosis
Pathways
Drugs
Diseases
Neuronal ceroid lipofuscinosis, including: Infantile Neuronal Ceroid Lipofuscinosis (INCL)/ Santavuori-Haltia Disease (CLN1); Late-Infantile Neuronal Ceroid Lipofuscinosis (LINCL)/ Jansky-Bielschowsky Disease (CLN2); Juvenile Neuronal Ceroid Lipofuscinosis (JNCL)/Batten Disease/ Spielmeyer-Vogt Disease (CLN3); Adult Neuronal Ceroid Lipofuscinosis (ANCL)/ Kufs Disease (CLN4); LINCL variant (CLN5, CLN6, CLN7, CLN8); Batten Disease variant (CLN9); Congenital NCL (CLN10)
Progressive myoclonic epilepsy (PME), including: Lafora disease (LBD); Unverricht-Lundborg disease (ULD); Neuronal ceroid lipofuscinoses (NCL); Type I sialidosis; Action myoclonus-renal failure syndrome (AMRF); Type III Gaucher disease (GD)
GWAS
Body fat distribution (arm fat ratio) (
30664634
)
Body fat distribution (leg fat ratio) (
30664634
)
Body fat distribution (trunk fat ratio) (
30664634
)
Brain morphology (MOSTest) (
32665545
)
Crohn's disease (
28067908
)
Extremely high intelligence (
29520040
)
General cognitive ability (
29844566
)
Inflammatory bowel disease (
28067908
)
Inflammatory bowel disease (early onset) (
19915574
)
Intelligence (MTAG) (
29326435
)
Lamb consumption (
32066663
)
Mean platelet volume (
32888494
)
Platelet count (
32888494
)
Platelet distribution width (
27863252
)
Type 1 diabetes (
30572963
)
Interacting Genes
2 interacting genes:
KCNIP3
SBDS
Entrez ID
1201
HPRD ID
08450
Ensembl ID
ENSG00000188603
Uniprot IDs
A0A024QZB8
B4DFF3
B4DMY6
Q13286
Q2TA70
PDB IDs
Enriched GO Terms of Interacting Partners
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