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FLASH GENE
Symbol SIGMAR1 contributors: mct - updated : 14-12-2013
HGNC name sigma non-opioid intracellular receptor 1
HGNC id 8157
Corresponding disease
ALS16 amyotrophic lateral sclerosis 16, juvenile
Location 9p13.3      Physical location : 34.634.719 - 34.637.768
Genatlas name type I sigma receptor
Synonym name
  • opioid receptor, sigma 1
  • SR31747 binding protein 1
  • aging-associated gene 8 protein
  • Synonym symbol(s) ALS16, SR-BP1, OPRS1, FLJ25585, SRBP1, SIG-1R, SR-BP, SR-BP1, SRBP, hSigmaR1, sigma1R, S1R
    DNA
    TYPE functioning gene
    STRUCTURE 3.08 kb     4 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 1655 25.1 223 - 2013 23760505
  • OPRS1 variant 1
  • 3 - 1580 21.5 192 - 2013 23760505
    OPRS1 variant 2
    - - 1547 - 187 - 2013 23760505
    - - 1626 - 106 - 2013 23760505
    - - 1706 - 67 - 2013 23760505
    - - 1510 17.5 155 - 2013 23760505
    - - 1681 13.6 123 - 2013 23760505
    - - 1668 22.5 203 - 2013 23760505
    - - 1751 - 159 - 2013 23760505
    - - 1588 12.5 110 - 2013 23760505
    - - 321 12 109 . localizes primarily in the ER at perinuclear regions and forms a complex with SIGMAR1 but not with IP3R in the mitochondrion-associated ER membrane 2012 22619170
  • SIGMAR1 short isoform, SIGMA1SR, truncated isoform of the sigma1R
  • two transmembrane domains (TM1, amino acids 1129; TM2, amino acids 91109), an extracellular loop, and intracellular N and C termini with the C-terminal region including a large soluble domain
  • has a detrimental effect on mitochondrial energy production and cell survival
  • enhances autophagosome formation following ER stress
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
    Digestiveliver    
    Nervousbraindiencephalonhypothalamus highly Homo sapiens
     brainhindbraincerebellum highly Homo sapiens
    Reproductivefemale systemovary   
    Visualeyeretina    Rattus norvegicus
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/liningretinal pigment epithelium (RPE)  
    Epithelialsensoryvisualouter nuclear layer 
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousoligodendrocyte Rattus norvegicus
    NervousPurkinje cell
    Visualganglion cell Rattus norvegicus
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a single putative transmembrane domain
  • a MQWAVGRR motif, which is thought to be an endoplasmic reticulum retention signal
  • a chaperone domain, containing a helix at the N terminus followed by a largely dynamic region and a structured, helical C-terminal region that encompasses a membrane associated domain containing four helices
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY chaperone/stress , receptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,nuclear envelope,int
    intracellular,nuclear envelope,ext
    basic FUNCTION
  • playing an important role in the cellular functions of various tissues associated with the endocrine, immune, and nervous systems
  • its activation can regulate calcium homeostasis and signaling in retinal ganglion cells, likely by directly influencing the activity of L-type voltage-gated calcium channels
  • may have neuromodulatory and neuroprotective roles in the retina
  • amplify dopamine DRD1 signaling at presynaptic sites in the prelimbic cortex
  • molecular chaperone protein highly enriched in the brain
  • plays an important role in modifying the function of transmembrane proteases
  • protects against cellular oxidative stress and activates antioxidant response elements
  • ligand-regulated membrane protein chaperone involved in the ER stress response
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism alcohol
    signaling
    ergosterol biosynthesis
    a component
    INTERACTION
    DNA
    RNA
    small molecule other,
    interacts with a variety of psychotomimetic drugs, including cocaine and amphetamines
    protein
  • SIGMAR1 amplify dopamine DRD1 signaling at presynaptic sites in the prelimbic cortex
  • in retinal neurons, binds HSPA5 under stressful conditions
  • its overexpression diminished ADAM17- and ADAM10-dependent shedding
  • regulate the HSPA5 and the inositol triphosphate receptor calcium channel through a C-terminal domain
  • is a key initial mediator of IL24 induction of cancer-specific killing
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ALS16
    Susceptibility to schizophrenia and differential activation of the prefrontal cortex (PFC)
    Variant & Polymorphism other polymorphism is associated with an increased risk of schizophrenia and differential activation of the prefrontal cortex (PFC)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • axonal disruption in the optic nerve head of Sigmar1-/- mice as early as 6 months of age
  • motoneurons of mice lacking S1r exhibit increased excitability