ID:SGMR1_HUMAN DESCRIPTION: RecName: Full=Sigma non-opioid intracellular receptor 1; AltName: Full=Aging-associated gene 8 protein; AltName: Full=SR31747-binding protein; Short=SR-BP; AltName: Full=Sigma 1-type opioid receptor; Short=SIG-1R; Short=Sigma1-receptor; Short=Sigma1R; Short=hSigmaR1; FUNCTION: 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. SUBUNIT: Forms a ternary complex with ANK2 and ITPR3. The complex is disrupted by agonists. Interacts with KCNA4 (By similarity). SUBCELLULAR LOCATION: Nucleus inner membrane. Nucleus outer membrane. Endoplasmic reticulum membrane. Lipid droplet. Cell junction. Cell membrane. Cell projection, growth cone. Note=Targeted to lipid droplets, cholesterol and galactosylceramide-enriched domains of the endoplasmic reticulum. Enriched at cell-cell communication regions, growth cone and postsynaptic structures. Localization is modulated by ligand- binding. TISSUE SPECIFICITY: Widely expressed with higher expression in liver, colon, prostate, placenta, small intestine, heart and pancreas. Expressed in the retina by retinal pigment epithelial cells. DISEASE: Defects in SIGMAR1 are the cause of amyotrophic lateral sclerosis type 16, juvenile (ALS16) [MIM:614373]. ALS16 is 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. MISCELLANEOUS: Depletion by RNAi inhibits growth and survival signaling cascades and induces cell death. The antagonist rimcazole produces the same effect. SIMILARITY: Belongs to the ERG2 family. WEB RESOURCE: Name=Wikipedia; Note=Sigma-1 receptor entry; URL="http://en.wikipedia.org/wiki/Sigma_1_Receptor";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q99720
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006869 lipid transport GO:0007165 signal transduction GO:0007399 nervous system development GO:0036474 cell death in response to hydrogen peroxide GO:0038003 opioid receptor signaling pathway GO:0043523 regulation of neuron apoptotic process GO:0070207 protein homotrimerization
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
