What is the official name of the SIGMAR1 gene?
The official name of this gene is “sigma non-opioid intracellular receptor 1.”
SIGMAR1 is the gene's official symbol. The SIGMAR1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the SIGMAR1 gene?
- From NCBI 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]
- From UniProt (SGMR1_HUMAN):
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.
How are changes in the SIGMAR1 gene related to health conditions?
- Genetics Home Reference provides information about amyotrophic lateral sclerosis, which is associated with changes in the SIGMAR1 gene.
- UniProt (SGMR1_HUMAN) provides the following information about the SIGMAR1 gene's known or predicted involvement in human disease.
Amyotrophic lateral sclerosis 16, juvenile (ALS16): 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. The disease is caused by mutations affecting the gene represented in this entry.
- NCBI Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the SIGMAR1 gene.
- Amyotrophic lateral sclerosis 16, juvenile
- Distal spinal muscular atrophy, autosomal recessive 2
- OMIM.org, a catalog designed for genetics professionals and researchers, provides the following information about the SIGMAR1 gene and its association with health conditions.
Where is the SIGMAR1 gene located?
Cytogenetic Location: 9p13.3
Molecular Location on chromosome 9: base pairs 34,634,722 to 34,637,826
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI
The SIGMAR1 gene is located on the short (p) arm of chromosome 9 at position 13.3.
More precisely, the SIGMAR1 gene is located from base pair 34,634,722 to base pair 34,637,826 on chromosome 9.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SIGMAR1?
You and your healthcare professional may find the following resources about SIGMAR1 helpful.
- Genetic Testing Registry - Repository of genetic test information
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog
- Research Resources - Tools for researchers
What other names do people use for the SIGMAR1 gene or gene products?
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding SIGMAR1?
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? in the Handbook.