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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SIGMAR1 Gene

protein-coding   GIFtS: 60
GCID: GC09M034634

Sigma Non-Opioid Intracellular Receptor 1

(Previous names: opioid receptor, sigma 1)
(Previous symbol: OPRS1)
Alzheimer's & Parkinson's Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Sigma Non-Opioid Intracellular Receptor 11 2     Opioid Receptor, Sigma 11
OPRS11 2 3     ALS162
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 mood disorder, 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008413.18  NC_018920.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SIGMAR1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: 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
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q99720

  • SIGMAR1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SIGMAR1 Protein Expression
    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  

    Human Recombinant Protein Products for SIGMAR1: 
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    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. 

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005635nuclear envelope IDA9341151
    GO:0005637nuclear inner membrane IEA--
    GO:0005640nuclear outer membrane IEA--
    GO:0005783endoplasmic reticulum ----
    GO:0005789endoplasmic reticulum membrane IEA--

    SIGMAR1 for ontologies           About GeneDecksing



    SIGMAR1 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for SIGMAR1 

    Assay Products for SIGMAR1: 
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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     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


    SIGMAR1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000247C-8 sterol isomerase activity IEA--
    GO:0004872receptor activity ----
    GO:0004985opioid receptor activity IEA--
    GO:0005515protein binding ----
    GO:0008144drug binding TAS8954936
         
    SIGMAR1 for ontologies           About GeneDecksing


    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 

    SIGMAR1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SIGMAR1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    miRTarBase miRNAs that target SIGMAR1:
    hsa-let-7b (MIRT005041), hsa-mir-205 (MIRT004655)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SIGMAR1
    8/13 QIAGEN miScript miRNA 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:
        
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    Gene Editing
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    Clone
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    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
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                         Customized lentivirus expression plasmids for stable overexpression of SIGMAR1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIGMAR1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SIGMAR1

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

    5/27 Interacting proteins for SIGMAR1 (Q997203 ENSP000002770104) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CLN3Q132863, ENSP000003530734I2D: score=3 STRING: ENSP00000353073
    ITPR3Q145733, ENSP000003634354I2D: score=3 STRING: ENSP00000363435
    ANK2Q014843, ENSP000003495884I2D: score=2 STRING: ENSP00000349588
    HSPA5P110213I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006696ergosterol biosynthetic process IEA--
    GO:0006869lipid transport IEA--
    GO:0007399nervous system development IEA--
    GO:0008219cell death IEA--
    GO:0038003opioid receptor signaling pathway ----

    SIGMAR1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SIGMAR1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for SIGMAR1

    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

    10/12 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)

    Search CenterWatch for drugs/clinical trials and news about SIGMAR1 / SGMR1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    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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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SIGMAR1
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    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 

    24/574 AceView cDNA sequences (see all 574):

    AL527309 BX418964 CR609235 BU543712 NM_147159 BQ643117 CR604206 NM_147158 
    CR590434 BQ682173 CF131715 BQ018910 BU557093 BC010104 BE255885 BQ679437 
    BX462186 CR619527 BM973970 AF226604 BQ009227 BI822247 BU174340 CR598930 

    GeneLoc Exon Structure

    5/11 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See SIGMAR1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SIGMAR1

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including SIGMAR1: 
              G Protein Coupled Receptors 384HT in human mouse rat
              Obesity in human mouse rat
              Stem Cells 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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SIGMAR1 gene from 6/16 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_011014.21  NP_035144.11 
     417384935 
    chicken
    (Gallus gallus)
    Aves SIGMAR11 sigma non-opioid intracellular receptor 1 74.26(n)
    70.79(a)
      100859748  XM_003642979.1  XP_003643027.1 
    lizard
    (Anolis carolinensis)
    Reptilia SIGMAR16
    Uncharacterized protein
    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 Erg2p 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)
    About This Section
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/137 SNPs in SIGMAR1 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601978    OMIM disorders: --

    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

  • 20/25 diseases for SIGMAR1 (see all 25):    About MalaCards
    mood disorder    tardive dyskinesia    thoracic aortic aneurysm    cocaine abuse
    motor neuron disease    major depressive disorder    aortic aneurysm    anorexia nervosa
    paralysis    lateral sclerosis    amyotrophic lateral sclerosis    neuronitis
    parkinson's disease    schizophrenia    glioblastoma    neuroblastoma
    retinitis    alzheimer's disease    alcoholism    hypertension


    SIGMAR1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    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)
    About This Section

    PubMed articles for SIGMAR1 gene, integrated from 9 sources (see all 130):
    (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. (1998)
    2. Cloning and functional expression of the human type 1 sigma receptor (hSigmaR1). (PubMed id 8954936)1, 2, 3 Kekuda R.... Ganapathy V. (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. (1999)
    4. A mutation in sigma-1 receptor causes juvenile amyotr ophic lateral sclerosis. (PubMed id 21842496)1, 2 Al-Saif A....Bohlega S. (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. (2009)
    6. Association between sigma-1 receptor gene polymorphis m and prefrontal hemodynamic response induced by cognitive activation in schizo phrenia. (PubMed id 19439245)1, 4 Takizawa R....Kasai K. (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. (2008)
    8. Silencing of sigma-1 receptor induces cell death in human lens cells. (PubMed id 16472803)1, 2 Wang L. and Duncan G. (2006)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 10280 HGNC: 8157 AceView: OPRS1 Ensembl:ENSG00000147955 euGenes: HUgn10280
    ECgene: SIGMAR1 H-InvDB: SIGMAR1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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



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    About This Section

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