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Aliases for SIGMAR1 Gene

Aliases for SIGMAR1 Gene

  • Sigma Non-Opioid Intracellular Receptor 1 2 3
  • SRBP 3 4 6
  • Aging-Associated Gene 8 Protein 3 4
  • Sigma 1-Type Opioid Receptor 3 4
  • HSigmaR1 3 4
  • Sigma1R 3 4
  • SIG-1R 3 4
  • OPRS1 3 4
  • ALS16 3 6
  • SR-BP 3 4
  • SR31747 Binding Protein 1 3
  • Opioid Receptor, Sigma 1 2
  • SR31747-Binding Protein 4
  • Sigma1-Receptor 4
  • SR-BP1 3

External Ids for SIGMAR1 Gene

Previous HGNC Symbols for SIGMAR1 Gene

  • OPRS1

Previous GeneCards Identifiers for SIGMAR1 Gene

  • GC09M034625
  • GC09M034589

Summaries for SIGMAR1 Gene

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 amyotrophic lateral sclerosis type 2. GO annotations related to this gene include drug binding and C-8 sterol isomerase activity.

UniProtKB/Swiss-Prot for SIGMAR1 Gene

  • 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.

Tocris 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 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SIGMAR1 Gene

Genomics for SIGMAR1 Gene

Regulatory Elements for SIGMAR1 Gene

Transcription factor binding sites by QIAGEN in the SIGMAR1 gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SIGMAR1 Gene

Start:
34,634,722 bp from pter
End:
34,637,826 bp from pter
Size:
3,105 bases
Orientation:
Minus strand

Genomic View for SIGMAR1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SIGMAR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SIGMAR1 Gene

Proteins for SIGMAR1 Gene

  • Protein details for SIGMAR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99720-SGMR1_HUMAN
    Recommended name:
    Sigma non-opioid intracellular receptor 1
    Protein Accession:
    Q99720
    Secondary Accessions:
    • D3DRM7
    • O00673
    • O00725
    • Q0Z9W6
    • Q153Z1
    • Q2TSD1
    • Q53GN2
    • Q7Z653
    • Q8N7H3
    • Q9NYX0

    Protein attributes for SIGMAR1 Gene

    Size:
    223 amino acids
    Molecular mass:
    25128 Da
    Quaternary structure:
    • Forms a ternary complex with ANK2 and ITPR3. The complex is disrupted by agonists. Interacts with KCNA4 (By similarity). Interacts with KCNA2; cocaine consumption leads to increased interaction (By similarity).
    Miscellaneous:
    • Depletion by RNAi inhibits growth and survival signaling cascades and induces cell death. The antagonist rimcazole produces the same effect

    Alternative splice isoforms for SIGMAR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SIGMAR1 Gene

Proteomics data for SIGMAR1 Gene at MOPED

Post-translational modifications for SIGMAR1 Gene

  • Ubiquitination at Lys142
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for SIGMAR1 Gene

Domains for SIGMAR1 Gene

Protein Domains for SIGMAR1 Gene

Suggested Antigen Peptide Sequences for SIGMAR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99720

UniProtKB/Swiss-Prot:

SGMR1_HUMAN :
  • Q99720
Family:
  • Belongs to the ERG2 family.
genes like me logo Genes that share domains with SIGMAR1: view

No data available for Gene Families for SIGMAR1 Gene

Function for SIGMAR1 Gene

Molecular function for SIGMAR1 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for SIGMAR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity --
GO:0004985 opioid receptor activity IEA --
GO:0005515 protein binding --
GO:0008144 drug binding TAS 8954936
genes like me logo Genes that share ontologies with SIGMAR1: view

Phenotypes for SIGMAR1 Gene

genes like me logo Genes that share phenotypes with SIGMAR1: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SIGMAR1 Gene

Localization for SIGMAR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SIGMAR1 Gene

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
Jensen Localization Image for SIGMAR1 Gene COMPARTMENTS Subcellular localization image for SIGMAR1 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 5
plasma membrane 5
extracellular 2
cytosol 1
golgi apparatus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for SIGMAR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005635 nuclear envelope IDA 9341151
GO:0005637 nuclear inner membrane IEA --
GO:0005640 nuclear outer membrane IEA --
GO:0005783 endoplasmic reticulum --
GO:0005789 endoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with SIGMAR1: view

Pathways for SIGMAR1 Gene

SuperPathways for SIGMAR1 Gene

No Data Available

PCR Array Products

Gene Ontology (GO) - Biological Process for SIGMAR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport IEA --
GO:0007399 nervous system development IEA --
GO:0008219 cell death --
GO:0038003 opioid receptor signaling pathway IEA --
GO:0043523 regulation of neuron apoptotic process IMP 21842496
genes like me logo Genes that share ontologies with SIGMAR1: view

No data available for Pathways by source for SIGMAR1 Gene

Compounds for SIGMAR1 Gene

(5) Tocris Compounds for SIGMAR1 Gene

Compound Action Cas Number
(+)-Igmesine hydrochloride Selective sigma1 ligand; antidepressant [130152-35-1]
(+)-SK&F 10047 hydrochloride sigma1 selective agonist [133005-41-1]
BD 1047 dihydrobromide sigma1 selective antagonist [138356-21-5]
PRE-084 hydrochloride Highly selective sigma1 agonist [138847-85-5]
SA 4503 dihydrochloride Selective sigma1 receptor agonist [165377-44-6]

(2) HMDB Compounds for SIGMAR1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Dextromethorphan
  • Bayer Select Flu Relief
6700-34-1

(5) Drugbank Compounds for SIGMAR1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Dextromethorphan
  • D-Methorphan
125-71-3 target agonist
Dimethyltryptamine
61-50-7 target
Pentazocine
  • L-pentazocine
359-83-1 target agonist
Phencyclidine
  • 1-(1-Phenylcyclohexyl)piperidine
77-10-1 target
Remoxipride
  • Remoxiprida [INN-Spanish]
80125-14-0 target antagonist

(12) Novoseek inferred chemical compound relationships for SIGMAR1 Gene

Compound -log(P) Hits PubMed IDs
phenylacetamide 84.4 2
n,n-dipropyl-2-(4-methoxy-3-(2-phenylethoxy)phenyl)ethylamine monohydrochloride 83.3 1
emopamil 82.5 2
dhea 57.8 2
dehydroepiandrosterone sulfate 52.4 3
genes like me logo Genes that share compounds with SIGMAR1: view

Transcripts for SIGMAR1 Gene

Unigene Clusters for SIGMAR1 Gene

Sigma non-opioid intracellular receptor 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SIGMAR1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SIGMAR1 Gene

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: - - - -
SP6: - - -
SP7: -
SP8: -
SP9: - - - -
SP10: - - -
SP11:

Relevant External Links for SIGMAR1 Gene

GeneLoc Exon Structure for
SIGMAR1
ECgene alternative splicing isoforms for
SIGMAR1

Expression for SIGMAR1 Gene

mRNA expression in normal human tissues for SIGMAR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SIGMAR1 Gene

This gene is overexpressed in Liver (4.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SIGMAR1 Gene

SOURCE GeneReport for Unigene cluster for SIGMAR1 Gene Hs.522087

mRNA Expression by UniProt/SwissProt for SIGMAR1 Gene

Q99720-SGMR1_HUMAN
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.
genes like me logo Genes that share expressions with SIGMAR1: view

In Situ Assay Products

Orthologs for SIGMAR1 Gene

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

Orthologs for SIGMAR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SIGMAR1 35
  • 99.55 (n)
  • 100 (a)
SIGMAR1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SIGMAR1 35
  • 92.64 (n)
  • 96.85 (a)
SIGMAR1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SIGMAR1 35
  • 93.72 (n)
  • 97.76 (a)
SIGMAR1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sigmar1 35
  • 86.19 (n)
  • 90.54 (a)
Sigmar1 16
Sigmar1 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SIGMAR1 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sigmar1 35
  • 88.04 (n)
  • 93.27 (a)
chicken
(Gallus gallus)
Aves SIGMAR1 35
  • 75.79 (n)
  • 73.16 (a)
SIGMAR1 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SIGMAR1 36
  • 66 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.14555 35
zebrafish
(Danio rerio)
Actinopterygii sigmar1 35
  • 70.26 (n)
  • 71.79 (a)
sigmar1 36
  • 64 (a)
OneToOne
zgc56378 35
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL181C 35
  • 49.87 (n)
  • 40.6 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG2 35
  • 48.6 (n)
  • 41.98 (a)
ERG2 36
  • 31 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F06336g 35
  • 41.53 (n)
  • 31.55 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU04156 35
  • 48.41 (n)
  • 36.31 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erg2 35
  • 41.87 (n)
  • 37.5 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5805 36
  • 22 (a)
OneToOne
Species with no ortholog for SIGMAR1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SIGMAR1 Gene

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

Paralogs for SIGMAR1 Gene

No data available for Paralogs for SIGMAR1 Gene

Variants for SIGMAR1 Gene

Sequence variations from dbSNP and Humsavar for SIGMAR1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs1799729 -- 34,637,993(-) TGGCG(C/T)TAGCT upstream-variant-2KB
rs1800866 - 34,637,693(-) GATGC(A/C)GTGGG reference, missense, utr-variant-5-prime, nc-transcript-variant
rs4878583 -- 34,634,425(+) CAAGA(C/T)CCCAT downstream-variant-500B
rs4878584 -- 34,639,275(+) TTTTG(A/C)CCTTA upstream-variant-2KB
rs4879809 -- 34,635,601(+) CTGTC(A/C/G/T)ATCCG utr-variant-3-prime, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for SIGMAR1 Gene

Variant ID Type Subtype PubMed ID
nsv893038 CNV Loss 21882294
nsv818699 CNV Gain 17921354
nsv893039 CNV Loss 21882294

Relevant External Links for SIGMAR1 Gene

HapMap Linkage Disequilibrium report
SIGMAR1
Human Gene Mutation Database (HGMD)
SIGMAR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SIGMAR1 Gene

Disorders for SIGMAR1 Gene

(1) OMIM Diseases for SIGMAR1 Gene (601978)

UniProtKB/Swiss-Prot

SGMR1_HUMAN
  • 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:0000269 PubMed:21842496}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) Novoseek inferred disease relationships for SIGMAR1 Gene

Disease -log(P) Hits PubMed IDs
neurodegenerative diseases 15.4 1
cancer 0 4

Relevant External Links for SIGMAR1

Genetic Association Database (GAD)
SIGMAR1
Human Genome Epidemiology (HuGE) Navigator
SIGMAR1
genes like me logo Genes that share disorders with SIGMAR1: view

Publications for SIGMAR1 Gene

  1. Colocalization of sterol isomerase and sigma(1) receptor at endoplasmic reticulum and nuclear envelope level. (PMID: 10406945) Dussossoy D. … Casellas P. (Eur. J. Biochem. 1999) 3 4 23
  2. Cloning and functional expression of the human type 1 sigma receptor (hSigmaR1). (PMID: 8954936) Kekuda R. … Ganapathy V. (Biochem. Biophys. Res. Commun. 1996) 2 3 4
  3. Exon-intron structure, analysis of promoter region, and chromosomal localization of the human type 1 sigma receptor gene. (PMID: 9453537) Prasad P.D. … Ganapathy V. (J. Neurochem. 1998) 2 3 4
  4. Molecular and ligand-binding characterization of the sigma-receptor in the Jurkat human T lymphocyte cell line. (PMID: 10087012) Ganapathy M.E. … Ganapathy V. (J. Pharmacol. Exp. Ther. 1999) 3 4
  5. Purification and characterization of the human SR 31747A-binding protein. A nuclear membrane protein related to yeast sterol isomerase. (PMID: 9341151) Jbilo O. … Casellas P. (J. Biol. Chem. 1997) 3 4

Products for SIGMAR1 Gene

Sources for SIGMAR1 Gene

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