Mouse Anti-CLN3 Recombinant Antibody (CBFYC-1950) (CBMAB-C2016-FY)

Mouse

Human

CBFYC-1950

IgG2a, k

ELISA, WB

Human

IgG2a, k

Monoclonal

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Liquid

PBS, pH 7.2

Store at +4°C short term (1-2 weeks). Aliquot and store at-20°C long term. Avoid repeated freeze/thaw cycles.

ceroid-lipofuscinosis, neuronal 3

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.

CLN3, Battenin; Ceroid-Lipofuscinosis, Neuronal 3; Batten Disease Protein; BTS; Juvenile Neuronal Ceroid Lipofuscinosis; Batten, Spielmeyer-Vogt Disease

Mediates microtubule-dependent, anterograde transport connecting the Golgi network, endosomes, autophagosomes, lysosomes and plasma membrane, and participates in several cellular processes such as regulation of lysosomal pH, lysosome protein degradation, receptor-mediated endocytosis, autophagy, transport of proteins and lipids from the TGN, apoptosis and synaptic transmission (PubMed:10924275, PubMed:18817525, PubMed:18317235, PubMed:22261744, PubMed:15471887, PubMed:20850431).

Facilitates the proteins transport from trans-Golgi network (TGN)-to other membrane compartments such as transport of microdomain-associated proteins to the plasma membrane, IGF2R transport to the lysosome where it regulates the CTSD release leading to regulation of CTSD maturation and thereby APP intracellular processing (PubMed:10924275, PubMed:18817525).

Moreover regulates CTSD activity in response to osmotic stress (PubMed:23840424, PubMed:28390177).

Also binds galactosylceramide and transports it from the trans Golgi to the rafts, which may have immediate and downstream effects on cell survival by modulating ceramide synthesis (PubMed:18317235).

At the plasma membrane, regulates actin-dependent events including filopodia formation, cell migration, and pinocytosis through ARF1-CDC42 pathway and also the cytoskeleton organization through interaction with MYH10 and fodrin leading to the regulation of the plasma membrane association of Na+, K+ ATPase complex (PubMed:20850431).

Regulates synaptic transmission in the amygdala, hippocampus, and cerebellum through regulation of synaptic vesicles density and their proximity to active zones leading to modulation of short-term plasticity and age-dependent anxious behavior, learning and memory (By similarity).

Regulates autophagic vacuoles (AVs) maturation by modulating the trafficking between endocytic and autophagolysosomal/lysosomal compartments, which involves vesicle fusion leading to regulation of degradation process (By similarity).

Participates also in cellular homeostasis of compounds such as, water, ions, amino acids, proteins and lipids in several tissue namely in brain and kidney through regulation of their transport and synthesis (PubMed:17482562).

Action potential Source: UniProtKB
Amyloid precursor protein catabolic process Source: UniProtKB
Arginine transport Source: UniProtKB
Associative learning Source: UniProtKB
Autophagosome-lysosome fusion Source: UniProtKB
Autophagosome maturation Source: UniProtKB
Cellular water homeostasis Source: UniProtKB
Glycerophospholipid biosynthetic process Source: UniProtKB
Glycolipid transport Source: UniProtKB
Golgi to lysosome transport Source: UniProtKB
Ionotropic glutamate receptor signaling pathway Source: UniProtKB
Learning or memory Source: UniProtKB
Lysosomal lumen acidification Source: UniProtKB
Lysosomal lumen pH elevation Source: UniProtKB
Lysosomal protein catabolic process Source: UniProtKB
Lysosome organization Source: UniProtKB
Membrane organization Source: UniProtKB
Negative regulation of apoptotic process Source: UniProtKB
Negative regulation of catalytic activity Source: UniProtKB
Negative regulation of neuron apoptotic process Source: UniProtKB
Negative regulation of proteolysis Source: UniProtKB
Neuromuscular process controlling balance Source: UniProtKB
Neurotransmitter metabolic process Source: UniProtKB
Phagosome-lysosome docking Source: UniProtKB
Phagosome-lysosome fusion Source: UniProtKB
Plasma membrane raft organization Source: UniProtKB
Positive regulation of caveolin-mediated endocytosis Source: UniProtKB
Positive regulation of Golgi to plasma membrane protein transport Source: UniProtKB
Positive regulation of pinocytosis Source: UniProtKB
Protein processing Source: UniProtKB
Receptor-mediated endocytosis Source: UniProtKB
Regulation of arginine biosynthetic process Source: UniProtKB
Regulation of autophagosome maturation Source: UniProtKB
Regulation of cellular response to osmotic stress Source: UniProtKB
Regulation of cytoskeleton organization Source: UniProtKB
Regulation of cytosolic calcium ion concentration Source: UniProtKB
Regulation of fibroblast migration Source: UniProtKB
Regulation of intracellular pH Source: GO_Central
Regulation of modification of synaptic structure Source: UniProtKB
Regulation of phagosome maturation Source: UniProtKB
Regulation of protein localization to plasma membrane Source: UniProtKB
Regulation of protein processing Source: UniProtKB
Regulation of short-term neuronal synaptic plasticity Source: UniProtKB
Regulation of synaptic transmission, GABAergic Source: UniProtKB
Regulation of synaptic transmission, glutamatergic Source: UniProtKB
Renal potassium excretion Source: UniProtKB
Vesicle transport along microtubule Source: UniProtKB

Lysosome membrane; Lysosome; Cell membrane; Golgi apparatus; Golgi apparatus membrane; Golgi stack; Trans-Golgi network; Late endosome; Recycling endosome; Early endosome membrane; Late endosome membrane; Membrane raft; Caveola; Synaptosome; Autophagosome. CLN3 is not present in late endosomes/lysosomes in fibroblasts and neurons (PubMed:15240864). Trafficks from cell membrane to Golgi via endosomes (PubMed:15240864). Osmotic stress changes the subcellular localization of CLN3 (PubMed:23840424). Trafficks to intracellular compartments via the plasma membranet through AP3M1-dependent mechanisms (PubMed:14644441). Excluded from the synaptic vesicles (By similarity).

Ceroid lipofuscinosis, neuronal, 3 (CLN3):
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 hallmark of CLN3 is the ultrastructural pattern of lipopigment with a fingerprint profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with neuronal ceroid lipofuscinosis type 3.

Cytoplasmic: 1-37
Helical: 38-58
Lumenal: 59-127
Helical: 128-148
Cytoplasmic: 149-151
Helical: 152-172
Lumenal: 173-182
Helical: 183-203
Cytoplasmic: 204-277
Helical: 278-298
Lumenal: 299-346
Helical: 347-367
Cytoplasmic: 368-438

Highly glycosylated.
Farnesylation is important for trafficking to lysosomes.
Phosphorylated on both serine and threonine residues by PKA, PKG and CK2.