Sigma non-opioid intracellular receptor 1

UniProt Q99720 Organism Homo sapiens Gene OPRS1, SIGMAR1, SRBP

Also known as: OPRS1, SIGMAR1, SRBP

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. 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).

Classification

Family (Pfam): PF04622 ERG2_Sigma1R
InterPro: ERG2_sigma1_rcpt-like
Functional cluster: Secreted Growth Factors & Cytokines

Experimental structures · PDB · 5

5HK1 X-ray 2.51A
5HK2 X-ray 3.20A
6DJZ X-ray 3.08A
6DK0 X-ray 2.90A
6DK1 X-ray 3.12A

A predicted model is available from AlphaFold.

Gene Ontology · 31

Disease associations

autosomal recessive distal spinal muscular atrophy 2 MONDO:0011585
amyotrophic lateral sclerosis type 16 MONDO:0013715

Drugs targeting this protein · 5

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Sigma non-opioid intracellular receptor 1 2 shared papers
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase 1 shared papers
Sigma non-opioid intracellular receptor 1 1 shared papers
Membrane-associated progesterone receptor component 1 1 shared papers
Sigma intracellular receptor 2 1 shared papers

Literature · 22 cited papers

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome. Neurology · 2016
Crystal structure of the human sigma1 receptor. Nature · 2016
A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy. Neurology · 2015
N-terminome analysis of the human mitochondrial proteome. Proteomics · 2015
Solution NMR studies reveal the location of the second transmembrane domain of the human sigma-1 receptor. FEBS Lett. · 2015
An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J. Proteomics · 2014
Altered localization, abnormal modification and loss of function of Sigma receptor-1 in amyotrophic lateral sclerosis. Hum. Mol. Genet. · 2013
S2R(Pgrmc1): the cytochrome-related sigma-2 receptor that regulates lipid and drug metabolism and hormone signaling. Expert Opin. Drug Metab. Toxicol. · 2012
A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis. Ann. Neurol. · 2011
Initial characterization of the human central proteome. BMC Syst. Biol. · 2011
Silencing of sigma-1 receptor induces cell death in human lens cells. Exp. Cell Res. · 2006
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. · 2004
… and 10 more in the literature graph

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