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SIGMAR1 Gene

protein-coding   GIFtS: 60
GCID: GC09M034634

Sigma Non-Opioid Intracellular Receptor 1

(Previous names: opioid receptor, sigma 1)
(Previous symbol: OPRS1)
  See SIGMAR1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Sigma Non-Opioid Intracellular Receptor 11 2     ALS162 5
OPRS11 2 3     Opioid Receptor, Sigma 11
SRBP2 3 5     SR-BP12
Aging-Associated Gene 8 Protein2 3     sigma1R2
Sigma 1-Type Opioid Receptor2 3     SR31747 Binding Protein 12
SIG-1R2 3     Sigma1-receptor3
SR-BP2 3     Sigma1R3
hSigmaR12 3     SR31747-Binding Protein3

External Ids:    HGNC: 81571   Entrez Gene: 102802   Ensembl: ENSG000001479557   OMIM: 6019785   UniProtKB: Q997203   

Export aliases for SIGMAR1 gene to outside databases

Previous GC identifers: GC09M034625 GC09M034589


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary 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 amyotrophic lateral sclerosis 16, juvenile, and tardive dyskinesia. GO annotations related to this gene include drug binding and C-8 sterol isomerase activity.

UniProtKB/Swiss-Prot: SGMR1_HUMAN, Q99720
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

summary for SIGMAR1 Gene:
Sigma1 receptors are members of the sigma family of receptors that also includes sigma2 receptors.
Originally thought to be opioid receptors or the phencyclidine binding site on the NMDA receptor, they are
now known to be distinct targets. These receptors are distinguished from sigma2 receptors as they exhibit
high affinity and stereoselectivity for the (+)-isomers of pentazocine, SK&F 10047 and cyclazocine, as well
as having different tissue distribution patterns and subcellular localizations. sigma1 receptors are
distributed throughout the central nervous system (especially the hippocampal formation and other limbic
areas) and in various peripheral tissues, including the liver, kidneys, lungs and muscles. These single
transmembrane receptors are found on the plasma, mitochondrial and endoplasmic reticular membranes and are
primarily associated with neuronal perikarya and dendrites. There has been extensive study of sigma
receptors since their discovery over twenty years ago. Sigma ligands are thought to have potential as
pharmacological agents in modulation of mood disorders, amnesic and cognitive deficits, the effects produced
by drug abuse, tardive dyskinesia and the potentiation of analgesia.

Gene Wiki entry for SIGMAR1 (Sigma-1 receptor) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NC_018920.2  NT_008413.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the SIGMAR1 gene promoter:
         p53   AP-1   ATF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSIGMAR1 promoter sequence
   Search Chromatin IP Primers for SIGMAR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SIGMAR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9p13.3   Ensembl cytogenetic band:  9p13.3   HGNC cytogenetic band: 9p13.3

SIGMAR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SIGMAR1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M034634:  view genomic region     (about GC identifiers)

Start:
34,634,719 bp from pter      End:
34,637,806 bp from pter
Size:
3,088 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SGMR1_HUMAN, Q99720 (See protein sequence)
Recommended Name: Sigma non-opioid intracellular receptor 1  
Size: 223 amino acids; 25128 Da
Subunit: Forms a ternary complex with ANK2 and ITPR3. The complex is disrupted by agonists. Interacts with KCNA4
(By similarity)
Miscellaneous: Depletion by RNAi inhibits growth and survival signaling cascades and induces cell death. The
antagonist rimcazole produces the same effect
Secondary accessions: D3DRM7 O00673 O00725 Q0Z9W6 Q153Z1 Q2TSD1 Q53GN2 Q7Z653 Q8N7H3 Q9NYX0
Alternative splicing: 5 isoforms:  Q99720-1   Q99720-2   Q99720-3   Q99720-4   Q99720-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SIGMAR1: NX_Q99720

Explore proteomics data for SIGMAR1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys142
  • Modification sites at PhosphoSitePlus

  • See SIGMAR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (7 alternative transcripts): 
    NP_001269134.1  NP_001269135.1  NP_001269136.1  NP_001269137.1  NP_001269138.1  NP_005857.1  NP_671513.1  

    ENSEMBL proteins: 
     ENSP00000368170   ENSP00000434453   ENSP00000277010   ENSP00000420022  

    SIGMAR1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for SIGMAR1
    OriGene Protein Over-expression Lysate for SIGMAR1
    OriGene MassSpec for SIGMAR1
    OriGene Custom Protein Services for SIGMAR1
    GenScript Custom Purified and Recombinant Proteins Services for SIGMAR1
    Novus Biologicals SIGMAR1 Protein
    Novus Biologicals SIGMAR1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for SIGMAR1 

     
    antibodies-online proteins for SIGMAR1 (3 products) 

     
    antibodies-online peptides for SIGMAR1

    SIGMAR1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SIGMAR1
    Browse R&D Systems for Antibodies
    OriGene Antibodies for SIGMAR1
    OriGene Custom Antibody Services for SIGMAR1
    Novus Biologicals SIGMAR1 Antibodies
    Search for Antibodies for SIGMAR1 at Abcam
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for SIGMAR1
    LSBio Antibodies in human, mouse, rat for SIGMAR1
    antibodies-online antibodies for SIGMAR1 (34 products) 

    SIGMAR1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SIGMAR1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SIGMAR1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for SIGMAR1 
    antibodies-online kits for SIGMAR1 (21 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR028545 SIGMAR1
     IPR006716 ERG2_sigma1_rcpt-like

    Graphical View of Domain Structure for InterPro Entry Q99720

    ProtoNet protein and cluster: Q99720

    1 Blocks protein domain: IPB006716 ERG2 and sigma1 receptor-like protein

    UniProtKB/Swiss-Prot: SGMR1_HUMAN, Q99720
    Similarity: Belongs to the ERG2 family


    Find genes that share domains with SIGMAR1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SGMR1_HUMAN, Q99720
    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

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity ----
    GO:0004985opioid receptor activity IEA--
    GO:0005515protein binding ----
    GO:0008144drug binding TAS8954936
         
    Find genes that share ontologies with SIGMAR1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for SIGMAR1:
     Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r 

         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Sigmar1):
     behavior/neurological 

    Find genes that share phenotypes with SIGMAR1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SIGMAR1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SIGMAR1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SIGMAR1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SIGMAR1

    miRNA
    Products:
        
    miRTarBase miRNAs that target SIGMAR1:
    hsa-let-7b-5p (MIRT005041), hsa-mir-769-3p (MIRT039068), hsa-mir-205-5p (MIRT004655), hsa-mir-98-5p (MIRT027830), hsa-mir-1 (MIRT023810), hsa-mir-7-5p (MIRT025728), hsa-mir-877-5p (MIRT037285), hsa-mir-1296-5p (MIRT036085)

    Block miRNA regulation of human, mouse, rat SIGMAR1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SIGMAR1 (see all 13):
    hsa-miR-3910 hsa-miR-448 hsa-miR-3179 hsa-miR-3142 hsa-miR-153 hsa-miR-2355-5p hsa-miR-873 hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidSIGMAR1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SIGMAR1
    Predesigned siRNA for gene silencing in human, mouse, rat SIGMAR1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SIGMAR1

    Clone
    Products:
         
    OriGene clones in human, mouse for SIGMAR1 (see all 12)
    OriGene ORF clones in mouse, rat for SIGMAR1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SIGMAR1 (NM_147157)
    Sino Biological Human cDNA Clone for SIGMAR1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SIGMAR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SIGMAR1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SIGMAR1
    Browse ESI BIO Cell Lines and PureStem Progenitors for SIGMAR1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIGMAR1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SGMR1_HUMAN, Q99720: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    nucleus5
    plasma membrane5
    extracellular2
    cytosol1
    golgi apparatus1
    lysosome1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005635nuclear envelope IDA9341151
    GO:0005637nuclear inner membrane IEA--
    GO:0005640nuclear outer membrane IEA--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005811lipid particle IEA--

    Find genes that share ontologies with SIGMAR1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Arrays including SIGMAR1: 
              G Protein Coupled Receptors 384HT in human mouse rat
              Obesity in human mouse rat
              Stem Cells in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SIGMAR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SIGMAR1 (Q997203 ENSP000002770104) via UniProtKB, MINT, STRING, and/or I2D (see all 109)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CLN3Q132863, ENSP000003530734I2D: score=3 STRING: ENSP00000353073
    ITPR3Q145733, ENSP000003634354I2D: score=3 STRING: ENSP00000363435
    HSPA5P110213, ENSP000003241734I2D: score=1 STRING: ENSP00000324173
    ANK2Q014843, ENSP000003495884I2D: score=2 STRING: ENSP00000349588
    C14orf1ENSP000002563194STRING: ENSP00000256319
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006869lipid transport IEA--
    GO:0007399nervous system development IEA--
    GO:0008219cell death IEA--
    GO:0038003opioid receptor signaling pathway ----
    GO:0043523regulation of neuron apoptotic process IMP--

    Find genes that share ontologies with SIGMAR1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for SIGMAR1
      Browse compounds at ApexBio 

    Compounds for SIGMAR1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    BD 1063 dihydrochloride Selective sigma1 ligand, putative antagonist [150208-28-9]
    PRE-084 hydrochlorideHighly selective sigma1 agonist[138847-85-5]
    NE 100 hydrochlorideSelective sigma1 antagonist[149409-57-4]
    BD 1047 dihydrobromidesigma1 selective antagonist[138356-20-4]
    (+)-SK&F 10047 hydrochloridesigma1 selective agonist[58640-82-7]

    2 HMDB Compounds for SIGMAR1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    DextromethorphanBayer Select Flu Relief (see all 58)6700-34-1--

    5 DrugBank Compounds for SIGMAR1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    DextromethorphanD-Methorphan (see all 20)125-71-3targetagonist17139284 11752352 17016423 17386960 15716633 15723099
    PentazocineL-pentazocine (see all 3)359-83-1targetagonist8788445 18069094 17622576 17898305 20021350
    Phencyclidine1-(1-Phenylcyclohexyl)piperidine (see all 25)77-10-1target--17139284 17016423
    RemoxiprideRemoxiprida [INN-Spanish] (see all 4)80125-14-0targetantagonist10562961 7800667
    Dimethyltryptamine-- 61-50-7target--19278957

    Selected Novoseek inferred chemical compound relationships for SIGMAR1 gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phenylacetamide 84.4 2 11728186 (2)
    n,n-dipropyl-2-(4-methoxy-3-(2-phenylethoxy)phenyl)ethylamine monohydrochloride 83.3 1 15322732 (1)
    emopamil 82.5 2 16033255 (1), 9730919 (1)
    dhea 57.8 3 16512622 (1), 15225127 (1)
    dehydroepiandrosterone sulfate 52.4 3 16012349 (2), 10562964 (1)
    phencyclidine 50.2 1 10562961 (1)
    dopamine 41.2 5 9349631 (2), 17134027 (1), 12801223 (1), 10562961 (1)
    haloperidol 37.7 3 17134027 (1), 15499608 (1)
    indole 31.1 2 16288878 (1), 11728186 (1)
    cocaine 25.7 1 19285059 (1)



    Find genes that share compounds with SIGMAR1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SIGMAR1 gene (10 alternative transcripts): 
    NM_001282205.1  NM_001282206.1  NM_001282207.1  NM_001282208.1  NM_001282209.1  NM_005866.3  NM_147157.2  NM_147158.1  
    NM_147159.1  NM_147160.2  

    Unigene Cluster for SIGMAR1:

    Sigma non-opioid intracellular receptor 1
    Hs.522087  [show with all ESTs]
    Unigene Representative Sequence: AK130502
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378892(uc003zuz.3) ENST00000353468 ENST00000277010(uc003zva.4 uc003zvb.3 uc003zvc.3 uc003zvd.3 uc011loo.1)
    ENST00000477726 ENST00000461426 ENST00000497006 ENST00000478146
    miRNA
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    Block miRNA regulation of human, mouse, rat SIGMAR1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SIGMAR1 (see all 13):
    hsa-miR-3910 hsa-miR-448 hsa-miR-3179 hsa-miR-3142 hsa-miR-153 hsa-miR-2355-5p hsa-miR-873 hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidSIGMAR1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SIGMAR1
    Clone
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    OriGene ORF clones in mouse, rat for SIGMAR1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SIGMAR1 (NM_147157)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SIGMAR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SIGMAR1
    Primer
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    OriGene qPCR primer pairs and template standards for SIGMAR1
    OriGene qSTAR qPCR primer pairs in human, mouse for SIGMAR1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SIGMAR1
      QuantiTect SYBR Green Assays in human, mouse, rat SIGMAR1
      QuantiFast Probe-based Assays in human, mouse, rat SIGMAR1

    Additional mRNA sequence: 

    AF226604.1 AK098451.1 AK130502.1 AK222899.1 AK291092.1 AK299130.1 AY633611.1 BC004899.2 
    BC007839.2 CR457075.1 DQ644568.1 DQ647702.1 DQ656583.1 U75283.1 U79528.1 

    22 DOTS entries:

    DT.100884984  DT.216839  DT.92455053  DT.99985706  DT.101985446  DT.100884994  DT.100045181  DT.75154631 
    DT.121165570  DT.95270500  DT.100884998  DT.100885001  DT.100885009  DT.92455046  DT.100884989  DT.100885004 
    DT.100885007  DT.100885011  DT.121165534  DT.95270523  DT.100885010  DT.40123046 

    Selected AceView cDNA sequences (see all 574):

    BC004899 CR593849 AW369343 CF131715 BQ018910 BU557093 BC010104 BE255885 
    BQ679437 BX462186 CR619527 BM973970 AF226604 BQ009227 BI822247 BU174340 
    CR598930 BU845959 CR603042 BI090530 AA316259 BE794509 AL527309 BX418964 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SIGMAR1 (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d
    SP1:                                                        -           -                                             
    SP2:                                                        -           -     -     -     -                           
    SP3:                                                  -     -           -                                             
    SP4:                                                                    -                                             
    SP5:                                            -     -     -           -                                             


    ECgene alternative splicing isoforms for SIGMAR1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SIGMAR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACTCACACC
    SIGMAR1 Expression
    About this image


    SIGMAR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    SIGMAR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SIGMAR1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.522087

    UniProtKB/Swiss-Prot: SGMR1_HUMAN, Q99720
    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SIGMAR1: 
              G Protein Coupled Receptors 384HT in human mouse rat
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SIGMAR1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sigmar11 , 5 sigma non-opioid intracellular receptor 11, 5 86.19(n)1
    90.54(a)1
      4 (22.05 cM)5
    183911  NM_011014.31  NP_035144.11 
     417384935 
    chicken
    (Gallus gallus)
    Aves SIGMAR11 sigma non-opioid intracellular receptor 1 75.79(n)
    73.16(a)
      100859748  NM_001270557.1  NP_001257486.1 
    lizard
    (Anolis carolinensis)
    Reptilia SIGMAR16
    sigma non-opioid intracellular receptor 1
    66(a)
    1 ↔ 1
    GL343305.1(60722-68887)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.145552 Xenopus laevis transcribed sequence with weak similarity more 83.23(n)    CF549299.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc563782 similar to opioid receptor, sigma 1 77.43(n)   393952  BC049416.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERG21 ERG2 48.6(n)
    41.98(a)
      855242   NP_013929.1 


    ENSEMBL Gene Tree for SIGMAR1 (if available)
    TreeFam Gene Tree for SIGMAR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SIGMAR1 (see all 137)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0673114
    Amyotrophic lateral sclerosis 16, juvenile (ALS16)4--see VAR_0673112 E Q mis40--------
    rs1131383491,2
    C--34602606(+) TGTCTC/TAGGTG 2 -- ds50011Minor allele frequency- T:0.50CSA 2
    rs1929062361,2
    --34602665(+) GTCTTC/GTCAGG 2 -- ds50010--------
    rs1834888551,2
    C--34602766(+) AGCAAC/GACCCC 2 -- ds50010--------
    rs48785831,2
    C,F,A--34602768(+) CAAGAC/TCCCAT 2 -- ds50017Minor allele frequency- T:0.25NA WA EA 366
    rs1412791741,2
    --34602779(+) TTCTAA/CAAAAA 2 -- ds50010--------
    rs1880306931,2
    --34602819(+) TTTGCG/TACTCA 2 -- ds50010--------
    rs1469286091,2
    --34602886(+) CAAGGC/TTGCAG 2 -- ds50010--------
    rs784072761,2
    F--34603037(+) GCTTTT/CTCCGG 2 -- ds50011Minor allele frequency- C:0.05EA 120
    rs1129264241,2
    C--34603145(+) TGATATG/-TGTGT 2 -- ut311Minor allele frequency- -:0.50CSA 2

    HapMap Linkage Disequilibrium report for SIGMAR1 (34634719 - 34637806 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SIGMAR1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv893038CNV Loss21882294
    nsv893039CNV Loss21882294
    nsv818699CNV Gain17921354

    Human Gene Mutation Database (HGMD): SIGMAR1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SIGMAR1
    DNA2.0 Custom Variant and Variant Library Synthesis for SIGMAR1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601978   
    OMIM disorders: 614373  
    UniProtKB/Swiss-Prot: SGMR1_HUMAN, Q99720
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 6 diseases for SIGMAR1:    
    About MalaCards
    amyotrophic lateral sclerosis 16, juvenile    tardive dyskinesia    amyotrophic lateral sclerosis 2, juvenile    blue cone monochromacy
    lateral sclerosis    amyotrophic lateral sclerosis


    Find genes that share disorders with SIGMAR1           About GenesLikeMe

    2 Novoseek inferred disease relationships for SIGMAR1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neurodegenerative diseases 15.4 1 18076369 (1)
    cancer 0 5 16388898 (3), 17534441 (1)

    Genetic Association Database (GAD): SIGMAR1
    Human Genome Epidemiology (HuGE) Navigator: SIGMAR1 (11 documents)

    Export disorders for SIGMAR1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SIGMAR1 gene, integrated from 10 sources (see all 136):
    (articles sorted by number of sources associating them with SIGMAR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Exon-intron structure, analysis of promoter region, and chromosomal localization of the human type 1 sigma receptor gene. (PubMed id 9453537)1, 2, 3 Prasad P.D.... Ganapathy V. (J. Neurochem. 1998)
    2. Cloning and functional expression of the human type 1 sigma receptor (hSigmaR1). (PubMed id 8954936)1, 2, 3 Kekuda R.... Ganapathy V. (Biochem. Biophys. Res. Commun. 1996)
    3. Colocalization of sterol isomerase and sigma(1) receptor at endoplasmic reticulum and nuclear envelope level. (PubMed id 10406945)1, 2, 9 Dussossoy D.... Casellas P. (Eur. J. Biochem. 1999)
    4. A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis. (PubMed id 21842496)1, 2 Al-Saif A.... Bohlega S. (Ann. Neurol. 2011)
    5. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PubMed id 19204726)1, 4 Chapuis J....Lambert J.C. (Mol. Psychiatry 2009)
    6. Association between sigma-1 receptor gene polymorphism and prefrontal hemodynamic response induced by cognitive activation in schizophrenia. (PubMed id 19439245)1, 4 Takizawa R....Kasai K. (amp 2009)
    7. Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database. (PubMed id 18583979)1, 4 Allen N.C....Bertram L. (Nat. Genet. 2008)
    8. Silencing of sigma-1 receptor induces cell death in human lens cells. (PubMed id 16472803)1, 2 Wang L. and Duncan G. (Exp. Cell Res. 2006)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10280 HGNC: 8157 AceView: OPRS1 Ensembl:ENSG00000147955 euGenes: HUgn10280
    ECgene: SIGMAR1 H-InvDB: SIGMAR1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SIGMAR1 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Sigma_1_Receptor

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SIGMAR1 gene:
    Search GeneIP for patents involving SIGMAR1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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