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SIGMAR1 sigma non-opioid intracellular receptor 1 [ Homo sapiens (human) ]

Gene ID: 10280, updated on 3-Nov-2024

Summary

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Official Symbol
SIGMAR1provided by HGNC
Official Full Name
sigma non-opioid intracellular receptor 1provided by HGNC
Primary source
HGNC:HGNC:8157
See related
Ensembl:ENSG00000147955 MIM:601978; AllianceGenome:HGNC:8157
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SRBP; ALS16; DSMA2; HMNR2; OPRS1; SR-BP; SIG-1R; SR-BP1; sigma1R; hSigmaR1
Summary
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]
Expression
Ubiquitous expression in liver (RPKM 44.6), duodenum (RPKM 22.5) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See SIGMAR1 in Genome Data Viewer
Location:
9p13.3
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (34634722..34637787, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (34653268..34656333, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (34634719..34637784, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene dynactin subunit 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34624191-34624739 Neighboring gene AT-rich interaction domain 3C Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19851 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19853 Neighboring gene Sharpr-MPRA regulatory region 8240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28313 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28314 Neighboring gene galactose-1-phosphate uridylyltransferase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34654819-34655434 Neighboring gene interleukin 11 receptor subunit alpha Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34659625-34660126 Neighboring gene C-C motif chemokine ligand 27

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Irreversible blockade of sigma-1 receptors by haloperidol and its metabolites in guinea pig brain and SH-SY5Y human neuroblastoma cells. Cobos EJ, et al. J Neurochem, 2007 Aug. PMID 17419803
  2. The role of SIGMAR1 gene mutation and mitochondrial dysfunction in amyotrophic lateral sclerosis. Fukunaga K, et al. J Pharmacol Sci, 2015 Jan. PMID 25704016
  3. Sigma-1 receptor and inflammatory pain. Gris G, et al. Inflamm Res, 2015 Jun. PMID 25902777
  4. A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy. Li X, et al. Neurology, 2015 Jun 16. PMID 26078401
  5. Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling. Gregianin E, et al. Hum Mol Genet, 2016 Sep 1. PMID 27402882

See all (183) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SIGMAR1 targets AMPK/ULK1 pathway to inhibit SH-SY5Y cell apoptosis by regulating endoplasmic reticulum stress and autophagy.
    Title: SIGMAR1 targets AMPK/ULK1 pathway to inhibit SH-SY5Y cell apoptosis by regulating endoplasmic reticulum stress and autophagy.
  2. Unraveling the CLCC1 interactome: Impact of the Asp25Glu variant and its interaction with SigmaR1 at the Mitochondrial-Associated ER Membrane (MAM).
    Title: Unraveling the CLCC1 interactome: Impact of the Asp25Glu variant and its interaction with SigmaR1 at the Mitochondrial-Associated ER Membrane (MAM).
  3. The Sigma-1 Receptor Is a Novel Target for Improving Cold Preservation in Rodent Kidney Transplants.
    Title: The Sigma-1 Receptor Is a Novel Target for Improving Cold Preservation in Rodent Kidney Transplants.
  4. Sig1R activates extracellular matrix-induced bladder cancer cell proliferation and angiogenesis by combing beta-integrin.
    Title: Sig1R activates extracellular matrix-induced bladder cancer cell proliferation and angiogenesis by combing β-integrin.
  5. SIGMAR1 Confers Innate Resilience against Neurodegeneration.
    Title: SIGMAR1 Confers Innate Resilience against Neurodegeneration.
  6. Investigation of the Entry Pathway and Molecular Nature of sigma1 Receptor Ligands.
    Title: Investigation of the Entry Pathway and Molecular Nature of σ1 Receptor Ligands.
  7. Sigma-1 Receptor Signaling: In Search of New Therapeutic Alternatives for Cardiovascular and Renal Diseases.
    Title: Sigma-1 Receptor Signaling: In Search of New Therapeutic Alternatives for Cardiovascular and Renal Diseases.
  8. Overview of Sigma-1R Subcellular Specific Biological Functions and Role in Neuroprotection.
    Title: Overview of Sigma-1R Subcellular Specific Biological Functions and Role in Neuroprotection.
  9. An investigation of Sigma-1 receptor expression and ligand-induced endoplasmic reticulum stress in breast cancer.
    Title: An investigation of Sigma-1 receptor expression and ligand-induced endoplasmic reticulum stress in breast cancer.
  10. TRPA1 modulation by Sigma-1 receptor prevents oxaliplatin-induced painful peripheral neuropathy.
    Title: TRPA1 modulation by Sigma-1 receptor prevents oxaliplatin-induced painful peripheral neuropathy.
Submit: New GeneRIF Correction See all GeneRIFs (114)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Amyotrophic lateral sclerosis type 16
MedGen: C3280587 OMIM: 614373 GeneReviews: Amyotrophic Lateral Sclerosis Overview
not available
Autosomal recessive distal spinal muscular atrophy 2
MedGen: C1854023 OMIM: 605726 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat Inhibition of sigma receptor or VEGFR causes a significant decrease in HIV-1 Tat- and cocaine-induced H2O2 generation in human pulmonary arterial smooth muscle cells PubMed
tat Downregulation of ZO-1 by treatment with HIV-1 Tat and cocaine is inhibited by VEGFR-2 or sigma receptor antagonists, suggesting that VEGFR-2 and sigma receptor are involved in the downregulation of ZO-1 by Tat and cocaine in pulmonary cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC3851, FLJ25585

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G protein-coupled opioid receptor activity IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in G protein-coupled opioid receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid transport IEA
Inferred from Electronic Annotation
more info
  
involved_in nervous system development IEA
Inferred from Electronic Annotation
more info
  
involved_in protein homotrimerization IPI
Inferred from Physical Interaction
more info
 PubMed 
involved_in regulation of neuron apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of postsynapse assembly IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in anchoring junction IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in growth cone IEA
Inferred from Electronic Annotation
more info
  
located_in lipid droplet IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear envelope IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear inner membrane IEA
Inferred from Electronic Annotation
more info
  
located_in nuclear outer membrane IEA
Inferred from Electronic Annotation
more info
  
located_in postsynaptic density IDA
Inferred from Direct Assay
more info
 PubMed 
located_in postsynaptic density membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
sigma non-opioid intracellular receptor 1
Names
SR31747 binding protein 1
aging-associated gene 8 protein
sigma 1-type opioid receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029945.2 RefSeqGene

    Range
    4985..8050
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001282205.2 → NP_001269134.1  sigma non-opioid intracellular receptor 1 isoform 6

    See identical proteins and their annotated locations for NP_001269134.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses an alternate splice site in the 3'-terminal exon, compared to variant 1. The encoded isoform (6) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK299130, AL450283, BC007839, BE018138
    Consensus CDS
    CCDS94399.1
    UniProtKB/TrEMBL
    B4DR71
    Related
    ENSP00000505305.1, ENST00000680244.1
    Conserved Domains (1) summary
    pfam04622
    Location:25 → 149
    ERG2_Sigma1R; ERG2 and Sigma1 receptor like protein

  2. NM_001282206.2 → NP_001269135.1  sigma non-opioid intracellular receptor 1 isoform 7

    See identical proteins and their annotated locations for NP_001269135.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in its 5' UTR and 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (7) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AL450283, BC007839, BE018138
    UniProtKB/Swiss-Prot
    Q99720
    Related
    ENSP00000368170.1, ENST00000378892.5
    Conserved Domains (1) summary
    pfam04622
    Location:19 → 114
    ERG2_Sigma1R; ERG2 and Sigma1 receptor like protein

  3. NM_001282207.2 → NP_001269136.1  sigma non-opioid intracellular receptor 1 isoform 8

    See identical proteins and their annotated locations for NP_001269136.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (8) is shorter, compared to isoform 1.
    Source sequence(s)
    AK130502, AL450283, BC007839, BE018138, DQ644568
    Consensus CDS
    CCDS94402.1
    UniProtKB/Swiss-Prot
    Q99720
    Related
    ENSP00000505634.1, ENST00000679597.1
    Conserved Domains (1) summary
    pfam04622
    Location:31 → 194
    ERG2_Sigma1R; ERG2 and Sigma1 receptor like protein

  4. NM_001282208.2 → NP_001269137.1  sigma non-opioid intracellular receptor 1 isoform 9

    See identical proteins and their annotated locations for NP_001269137.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) uses an alternate splice site in the central coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (9) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK291092, AL450283, BC007839, BE018138, BI596428
    Consensus CDS
    CCDS94400.1
    UniProtKB/TrEMBL
    A0A7P0Z4C2
    Related
    ENSP00000505742.1, ENST00000680277.1
    Conserved Domains (1) summary
    pfam04622
    Location:25 → 117
    ERG2_Sigma1R; ERG2 and Sigma1 receptor like protein

  5. NM_001282209.2 → NP_001269138.1  sigma non-opioid intracellular receptor 1 isoform 10

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) uses an alternate splice site and lacks an alternate exon in the central coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (10) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK291092, AL450283, BC007839, BE018138
    Consensus CDS
    CCDS94401.1
    UniProtKB/TrEMBL
    A0A7P0T9D5
    Related
    ENSP00000505588.1, ENST00000680730.1
    Conserved Domains (1) summary
    pfam04622
    Location:25 → 102
    ERG2_Sigma1R; ERG2 and Sigma1 receptor like protein

  6. NM_005866.4 → NP_005857.1  sigma non-opioid intracellular receptor 1 isoform 1

    See identical proteins and their annotated locations for NP_005857.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK130502, AL450283, BC007839
    Consensus CDS
    CCDS6562.1
    UniProtKB/Swiss-Prot
    D3DRM7, O00673, O00725, Q0Z9W6, Q153Z1, Q2TSD1, Q53GN2, Q7Z653, Q8N7H3, Q99720, Q9NYX0
    Related
    ENSP00000277010.4, ENST00000277010.9
    Conserved Domains (1) summary
    pfam04622
    Location:24 → 214
    ERG2_Sigma1R; ERG2 and Sigma1 receptor like protein

  7. NM_147157.3 → NP_671513.1  sigma non-opioid intracellular receptor 1 isoform 2

    See identical proteins and their annotated locations for NP_671513.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AK291092, AL450283, BC007839, BE018138
    Consensus CDS
    CCDS6563.1
    UniProtKB/TrEMBL
    A2A3U5
    Related
    ENSP00000420022.1, ENST00000477726.1
    Conserved Domains (1) summary
    pfam04622
    Location:24 → 183
    ERG2_Sigma1R; ERG2 and Sigma1 receptor like protein

RNA

  1. NR_104108.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK130502, AL450283, BC007839, BE018138
    Related
    ENST00000353468.4

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    34634722..34637787 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    34653268..34656333 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_147158.1: Suppressed sequence

    Description
    NM_147158.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

  2. NM_147159.1: Suppressed sequence

    Description
    NM_147159.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

  3. NM_147160.2: Suppressed sequence

    Description
    NM_147160.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99720.1 GenPept UniProtKB/Swiss-Prot:Q99720

Gene LinkOut

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