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

Summary

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

Location:: 9p13.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (34634722..34637787, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (34653268..34656333, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (34634719..34637784, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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).
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.
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.
SIGMAR1 Confers Innate Resilience against Neurodegeneration.
Title: SIGMAR1 Confers Innate Resilience against Neurodegeneration.
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.
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.
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.
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.
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.
Sigma-1 Receptor in Retina: Neuroprotective Effects and Potential Mechanisms.
Title: Sigma-1 Receptor in Retina: Neuroprotective Effects and Potential Mechanisms.

Submit: New GeneRIF Correction See all GeneRIFs (113)

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	Compare labs
Autosomal recessive distal spinal muscular atrophy 2 MedGen: C1854023 OMIM: 605726 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH15753 (e-PCR)
- UniSTS:91710

RH16220 (e-PCR)
- UniSTS:46053

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled opioid receptor activity	IEA Inferred from Electronic Annotation more info
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

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 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

NG_029945.2 RefSeqGene

Range

4985..8050

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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
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

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

34634722..34637787 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

34653268..34656333 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.
NM_147159.1: Suppressed sequence

Description

NM_147159.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_147160.2: Suppressed sequence

Description

NM_147160.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.