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 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 and Amyotrophic Lateral Sclerosis 16, Juvenile. Among its related pathways are Neuroscience. Gene Ontology (GO) annotations related to this gene include opioid receptor 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 (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).
sigma1 receptors are members of the sigma family of receptors that also includes sigma2 receptors. They are distinguished from sigma2 receptors as they have high affinity and stereoselectivity for the (+)-isomers of pentazocine, SK&F 10047 and cyclazocine, and different subcellular localizations.