InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SIGMAR1

Summary

InnateDB Protein

IDBP-60348.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SIGMAR1

Protein Name

sigma non-opioid intracellular receptor 1

Synonyms

ALS16; hSigmaR1; OPRS1; SIG-1R; sigma1R; SR-BP; SR-BP1; SRBP;

Species

Homo sapiens

Ensembl Protein

ENSP00000277010

InnateDB Gene

IDBG-60346 (SIGMAR1)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:16472803, ECO:0000269PubMed:9341151}.

Subcellular Localization

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.

Disease Associations

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. {ECO:0000269PubMed:21842496}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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. {ECO:0000269PubMed:11687279, ECO:0000269PubMed:8954936, ECO:0000269PubMed:9341151}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	8 [view]
Protein-Protein	6 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004872	receptor activity
GO:0004985	opioid receptor activity
GO:0005515	protein binding
GO:0008144	drug binding

Biological Process

GO:0006869	lipid transport
GO:0007399	nervous system development
GO:0008219	cell death
GO:0038003	opioid receptor signaling pathway
GO:0043523	regulation of neuron apoptotic process

Cellular Component

GO:0005635	nuclear envelope
GO:0005637	nuclear inner membrane
GO:0005640	nuclear outer membrane
GO:0005789	endoplasmic reticulum membrane
GO:0005811	lipid particle
GO:0005887	integral component of plasma membrane
GO:0016021	integral component of membrane
GO:0030054	cell junction
GO:0030426	growth cone