Nucleus inner membrane {Experimental EvidencePubMed:10406945}. Nucleus outer membrane {Experimental EvidencePubMed:10406945}. Nucleus envelope {Experimental EvidencePubMed:11476895, Experimental EvidencePubMed:9341151}. Cytoplasmic vesicle {Experimental EvidencePubMed:10406945}. Endoplasmic reticulum membrane {Experimental EvidencePubMed:10406945}. Membrane {Experimental EvidencePubMed:11476895, ECO:0000269|PubMed:27042935, Experimental EvidencePubMed:9341151}; Single-pass membrane protein {ECO:0000269|PubMed:27042935}. Lipid droplet {ECO:0000250|UniProtKB:O55242}. Cell junction. Cell membrane {ECO:0000269|PubMed:23314020}. Cell projection, growth cone. Postsynaptic density membrane {ECO:0000269|PubMed:23314020}. Note=During interphase, detected at the inner and outer nuclear membrane and the endoplasmic reticulum. Detected on cytoplasmic vesicles during mitosis (PubMed:10406945). Targeted to lipid droplets, cholesterol and galactosylceramide-enriched domains of the endoplasmic reticulum. Accumulation at the endoplasmic reticulum is prominent in alpha-motor neurons of patients with amyotrophic lateral sclerosis (PubMed:23314020). Enriched at cell-cell communication regions, growth cone and postsynaptic structures. Localization is modulated by ligand- binding. In motor neurons it is enriched at cholinergic postsynaptic densities (By similarity). {ECO:0000250|UniProtKB:O55242, Experimental EvidencePubMed:10406945, ECO:0000269|PubMed:23314020}.
The nuclear envelope is a membrane system which surrounds the nucleoplasm of eukaryotic cells. It is composed of the nuclear lamina, nuclear pore complexes and two nuclear membranes. The space between the two membranes is called the nuclear intermembrane space.
The inner membrane of the nucleus is the membrane which separates the nuclear matrix from the intermembrane space. In mammals, the inner nuclear membrane is associated with heterochromatin and the nuclear lamina.
The membrane surrounding the nucleus. This term is used when it is not known if the protein is found in or associated with the inner or outer nuclear membrane.
The outer membrane of the nucleus is the membrane facing the cytoplasm. In mammals, the outer nuclear membrane is continuous in many places with the rough endoplasmic reticulum and is dotted with ribosomes.
Functions in lipid transport from the endoplasmic reticulum and is involved in a wide array of cellular functions probably through regulation of the biogenesis of lipid microdomains at the plasma membrane. Involved in the regulation of different receptors it plays a role in BDNF signaling and EGF signaling. Also regulates ion channels like the potassium channel and could modulate neurotransmitter release. Plays a role in calcium signaling through modulation together with ANK2 of the ITP3R-dependent calcium efflux at the endoplasmic reticulum. Plays a role in several other cell functions including proliferation, survival and death. Originally identified for its ability to bind various psychoactive drugs it is involved in learning processes, memory and mood alteration (PubMed:16472803, PubMed:9341151). Necessary for proper mitochondrial axonal transport in motor neurons, in particular the retrograde movement of mitochondria. Plays a role in protecting cells against oxidative stress-induced cell death via its interaction with RNF112 (By similarity). {By
SimilarityUniProtKB:O55242, Experimental EvidencePubMed:16472803, Experimental EvidencePubMed:9341151}.
Amyotrophic lateral sclerosis 16, juvenile (ALS16) [MIM:614373]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {Experimental EvidencePubMed:21842496}. Note=The disease is caused by variants affecting the gene represented in this entry. Distal spinal muscular atrophy, autosomal recessive, 2 (DSMA2) [MIM:605726]: An autosomal recessive neuromuscular disorder characterized by onset of distal muscle weakness and wasting affecting the lower and upper limbs in the first decade. There is no sensory involvement. {Experimental EvidencePubMed:26078401, Experimental EvidencePubMed:27629094}. Note=The disease is caused by variants affecting the gene represented in this entry.
National and Kapodistrian University of Athens
Department of Biology
Biophysics & Bioinformatics Laboratory