Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SIGMAR1 Gene

Aliases for SIGMAR1 Gene

  • Sigma Non-Opioid Intracellular Receptor 1 2 3 5
  • 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
  • SR-BP 3 4
  • SRBP 3 4
  • SR31747 Binding Protein 1 3
  • Opioid Receptor, Sigma 1 2
  • SR31747-Binding Protein 4
  • Sigma1-Receptor 4
  • SR-BP1 3
  • ALS16 3
  • DSMA2 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 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 and Amyotrophic Lateral Sclerosis 16, Juvenile. GO annotations related to this gene include receptor activity and opioid receptor 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 (PubMed:16472803, PubMed:9341151). Necessary for proper mitochondrial axonal transport in motor neurons, in particular the retrograde movement of mitochondria (By similarity).

Tocris Summary for SIGMAR1 Gene

  • sigma1 receptors are members of the sigma family of receptors that also includes sigma2 receptors. They are distinguished from sigma2 receptors as they have high affinity and stereoselectivity for the (+)-isomers of pentazocine, SK&F 10047 and cyclazocine, and different subcellular localizations.

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

Enhancers for SIGMAR1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SIGMAR1 on UCSC Golden Path with GeneCards custom track

Promoters for SIGMAR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SIGMAR1 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for SIGMAR1 Gene

Chromosome:
9
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

Genes around SIGMAR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SIGMAR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 142
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for OPRS1

No data available for DME Specific Peptides for SIGMAR1 Gene

Domains & Families for SIGMAR1 Gene

Protein Domains for SIGMAR1 Gene

Graphical View of Domain Structure for InterPro Entry

Q99720

UniProtKB/Swiss-Prot:

SGMR1_HUMAN :
  • Belongs to the ERG2 family.
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 (PubMed:16472803, PubMed:9341151). Necessary for proper mitochondrial axonal transport in motor neurons, in particular the retrograde movement of mitochondria (By similarity).
genes like me logo Genes that share phenotypes with SIGMAR1: view

Human Phenotype Ontology for SIGMAR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SIGMAR1 Gene

MGI Knock Outs for SIGMAR1:

Animal Model Products

  • Taconic Biosciences Mouse Models for SIGMAR1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Note=Targeted to lipid droplets, cholesterol and galactosylceramide-enriched domains of the endoplasmic reticulum. Accumulation at the endoplasmic reticulum is prominent in alpha-motor neurons of patients with amyotrophic lateral sclerosis (PubMed:23314020). Enriched at cell-cell communication regions, growth cone and postsynaptic structures. Localization is modulated by ligand-binding. In motor neurons it is enriched at cholinergic postsynaptic densities (By similarity). {ECO:0000250 UniProtKB:O55242, ECO:0000269 PubMed:23314020}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SIGMAR1 Gene COMPARTMENTS Subcellular localization image for SIGMAR1 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 4
plasma membrane 4
extracellular 2
golgi apparatus 1
lysosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for SIGMAR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005635 nuclear envelope IDA 9341151
GO:0005640 nuclear outer membrane IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005811 lipid particle IEA --
GO:0005887 integral component of plasma membrane TAS 8954936
genes like me logo Genes that share ontologies with SIGMAR1: view

Pathways & Interactions for SIGMAR1 Gene

SuperPathways for SIGMAR1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SIGMAR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with SIGMAR1: view

No data available for Pathways by source and SIGNOR curated interactions for SIGMAR1 Gene

Drugs & Compounds for SIGMAR1 Gene

(31) Drugs for SIGMAR1 Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dextromethorphan Approved Pharma agonist, Target 125
Pentazocine Approved Pharma Target, agonist 8
Remoxipride Approved, Withdrawn Pharma Target, antagonist 0
Naltrexone Approved, Investigational Pharma Antagonist, antagonist, Target 367
Amitriptyline Approved Pharma Antagonist, Target, agonist 103

(10) Additional Compounds for SIGMAR1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(+-)-PPCC oxalate
932736-91-9
(+)-SK&F 10047 hydrochloride
133005-41-1
BD 1047 dihydrobromide
138356-21-5
PRE-084 hydrochloride
138847-85-5
SA 4503 dihydrochloride
165377-44-6

(5) Tocris Compounds for SIGMAR1 Gene

Compound Action Cas Number
(+-)-PPCC oxalate Selective sigma agonist (sigma1> sigma2) 932736-91-9
(+)-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
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:

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 (x4.5).

Protein differential expression in normal tissues from HIPED for SIGMAR1 Gene

This gene is overexpressed in Bone (14.4) and Gallbladder (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines 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. Expressed in alpha-motor neurons (PubMed:23314020).
genes like me logo Genes that share expression patterns with SIGMAR1: view

Protein tissue co-expression partners for SIGMAR1 Gene

- Elite partner

Primer 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
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
chimpanzee
(Pan troglodytes)
Mammalia SIGMAR1 35
  • 99.55 (n)
  • 100 (a)
SIGMAR1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sigmar1 35
  • 88.04 (n)
  • 93.27 (a)
oppossum
(Monodelphis domestica)
Mammalia SIGMAR1 36
  • 79 (a)
OneToOne
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)
zgc56378 35
sigmar1 36
  • 64 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL181C 35
  • 49.87 (n)
  • 40.6 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F06336g 35
  • 41.53 (n)
  • 31.55 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG2 35
  • 48.6 (n)
  • 41.98 (a)
ERG2 36
  • 31 (a)
OneToOne
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
rs1800866 - 34,637,693(-) GATGC(A/C)GTGGG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs192644838 - 34,635,672(+) CAAGC(C/T)GGAGG intron-variant, nc-transcript-variant, reference, missense, utr-variant-3-prime
VAR_067311 Amyotrophic lateral sclerosis 16, juvenile (ALS16)
rs1799729 -- 34,637,993(-) TGGCG(C/T)TAGCT upstream-variant-2KB
rs7865100 -- 34,636,597(+) GCCAC(C/T)GCACG intron-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

Variation tolerance for SIGMAR1 Gene

Residual Variation Intolerance Score: 40.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.72; 86.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SIGMAR1 Gene

Human Gene Mutation Database (HGMD)
SIGMAR1

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

Disorders for SIGMAR1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for SIGMAR1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spinal muscular atrophy, distal, autosomal recessive, 2
  • neuropathy, distal hereditary motor, jerash type
amyotrophic lateral sclerosis 16, juvenile
  • als16
amyotrophic lateral sclerosis type 2
  • amyotrophic lateral sclerosis 2, juvenile
sigmar1-related amyotrophic lateral sclerosis
  • amyotrophic lateral sclerosis 16, juvenile
lateral sclerosis
  • motor neuron disease
- elite association - COSMIC cancer census association via MalaCards

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.
  • Distal spinal muscular atrophy, autosomal recessive, 2 (DSMA2) [MIM:605726]: An autosomal recessive neuromuscular disorder characterized by onset of distal muscle weakness and wasting affecting the lower and upper limbs in the first decade. There is no sensory involvement. {ECO:0000269 PubMed:26078401}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SIGMAR1

Genetic Association Database (GAD)
SIGMAR1
Human Genome Epidemiology (HuGE) Navigator
SIGMAR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SIGMAR1
genes like me logo Genes that share disorders with SIGMAR1: view

No data available for Genatlas for SIGMAR1 Gene

Publications for SIGMAR1 Gene

  1. 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 67
  2. [Atypical antipsychotic profiles of sigma receptor ligands]. (PMID: 10562961) Okuyama S. (Nippon Yakurigaku Zasshi 1999) 23 25 26
  3. In vitro and ex vivo characterization of sigma-1 and sigma-2 receptors: agonists and antagonists in biological assays. (PMID: 20021350) Colabufo N.A. … Roperto F. (Cent Nerv Syst Agents Med Chem 2009) 25 26
  4. An unambiguous assay for the cloned human sigma1 receptor reveals high affinity interactions with dopamine D4 receptor selective compounds and a distinct structure-affinity relationship for butyrophenones. (PMID: 17961544) Lee I.T. … Schetz J.A. (Eur. J. Pharmacol. 2008) 3 23
  5. Substituted benzylaminoalkylindoles with preference for the sigma2 binding site. (PMID: 18069094) Mamolo M.G. … Vio L. (Eur J Med Chem 2008) 25 26

Products for SIGMAR1 Gene

Sources for SIGMAR1 Gene

Content