Aliases for SIGMAR1 Gene
External Ids for SIGMAR1 Gene
Previous HGNC Symbols for SIGMAR1 Gene
Previous GeneCards Identifiers for SIGMAR1 Gene
This gene encodes a receptor protein that interacts with a variety of psychotomimetic drugs, including cocaine and amphetamines. The receptor is believed to play an important role in the cellular functions of various tissues associated with the endocrine, immune, and nervous systems. As indicated by its previous name, opioid receptor sigma 1 (OPRS1), the product of this gene was erroneously thought to function as an opioid receptor; it is now thought to be a non-opioid receptor. Mutations in this gene has been associated with juvenile amyotrophic lateral sclerosis 16. Alternative splicing of this gene results in transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2013]
GeneCards Summary for SIGMAR1 Gene
SIGMAR1 (Sigma Non-Opioid Intracellular Receptor 1) is a Protein Coding gene. Diseases associated with SIGMAR1 include amyotrophic lateral sclerosis 16, juvenile and amyotrophic lateral sclerosis type 2. GO annotations related to this gene include drug binding and C-8 sterol isomerase activity.
UniProtKB/Swiss-Prot for SIGMAR1 Gene
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.
Sigma1 receptors are members of the sigma family of receptors that also includes sigma2 receptors. Originally thought to be opioid receptors or the phencyclidine binding site on the NMDA receptor, they are now known to be distinct targets. These receptors are distinguished from sigma2 receptors as they exhibit high affinity and stereoselectivity for the (+)-isomers of pentazocine, SK&F 10047 and cyclazocine, as well as having different tissue distribution patterns and subcellular localizations. sigma1 receptors are distributed throughout the central nervous system (especially the hippocampal formation and other limbic areas) and in various peripheral tissues, including the liver, kidneys, lungs and muscles. These single transmembrane receptors are found on the plasma, mitochondrial and endoplasmic reticular membranes and are primarily associated with neuronal perikarya and dendrites. There has been extensive study of sigma receptors since their discovery over twenty years ago. Sigma ligands are thought to have potential as pharmacological agents in modulation of mood disorders, amnesic and cognitive deficits, the effects produced by drug abuse, tardive dyskinesia and the potentiation of analgesia.