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

Summary

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Official Symbol: SIGMAR1provided by HGNC
Official Full Name: sigma non-opioid intracellular receptor 1provided by HGNC
Primary source: HGNC:8157
Locus tag: RP11-443P11.3
See related: Ensembl:ENSG00000147955; HPRD:03580; MIM:601978; Vega:OTTHUMG00000019829
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; OPRS1; SR-BP1
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. Alternative splicing of this gene results in transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2008]

Genomic context

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Location :: 9p13.3

Sequence :: Chromosome: 9; NC_000009.11 (34634719..34637768, complement)

See SIGMAR1 in Epigenomics, MapViewer

Chromosome 9 - NC_000009.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

This study demonistrated that association between the SIGMAR1 Gln2Pro polymorphism and schizophrenia in our Japanese population.
Title: Supportive evidence for the association between the Gln2Pro polymorphism in the SIGMAR1 gene and schizophrenia in the Japanese population: a case-control study and an updated meta-analysis.
Each set of six transmembrane regions in Nav1.5 likely constitutes a Sig1R binding site, suggesting that the Sig1R interacts with the transmembrane regions of its binding partners.
Title: The sigma-1 receptor binds to the Nav1.5 voltage-gated Na+ channel with 4-fold symmetry.
Sigma1R likely interacts with different domains of Kv ion channel family proteins resulting in distinct modulation of different channels.
Title: Sigma-1 receptor alters the kinetics of Kv1.3 voltage gated potassium channels but not the sensitivity to receptor ligands.
Our data demonstrates an association between the SIGMAR1 TT-P variant and the risk for developing Alzheimer's diseasE
Title: Association between a variant of the sigma-1 receptor gene and Alzheimer's disease.
sigma1R may serve as a potential predictive factor for pTNM classification and tumor development in esophageal squamous cell carcinoma.
Title: Overexpression of sigma1 receptor and its positive associations with pathologic TNM classification in esophageal squamous cell carcinoma.
The sigma-1 receptor plays an important role in modifying the function of transmembrane proteases.
Title: Overexpression of sigma-1 receptor inhibits ADAM10 and ADAM17 mediated shedding in vitro.
Sig1R protein regulates hERG channel expression through a post-translational mechanism in leukemic cells.
Title: Sig1R protein regulates hERG channel expression through a post-translational mechanism in leukemic cells.
SIGMAR1 and APOE interact to influence Alzheimer's disease severity across ethnic populations.
Title: Genetic polymorphisms in sigma-1 receptor and apolipoprotein E interact to influence the severity of Alzheimer's disease.
Sigma-1 receptor antagonists, but not agonists, show GTP- and suramin-sensitive high-affinity binding.
Title: Antagonists show GTP-sensitive high-affinity binding to the sigma-1 receptor.
This study demonistrated that A mutation in sigma-1 receptor(E102Q ) causes juvenile amyotrophic lateral sclerosis
Title: A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis.

Submit: New GeneRIF Correction See all (32)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Amyotrophic lateral sclerosis 16, juvenile

MIM: 614373

Genetic Testing Registry

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
Q99720	Q01484	ANK2	HPRD	PubMed
Q99720	Q14573	ITPR3	HPRD	PubMed
BioGRID:115569	BioGRID:106784	ANK2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:115569	BioGRID:107506	CFTR	BioGRID	PubMed	Affinity Capture-MS
BioGRID:115569	BioGRID:107612	CLN3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:115569	BioGRID:109915	ITPR3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:115569	BioGRID:119405	PDZD11	BioGRID	PubMed	Two-hybrid
BioGRID:115569	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

General gene information

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Markers

RH15753 (e-PCR)
- UniSTS:91710

RH16220 (e-PCR)
- UniSTS:46053

Homology

Homologs of the SIGMAR1 gene: The SIGMAR1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, and N.crassa.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
C-8 sterol isomerase activity	IEA Inferred from Electronic Annotation more info
drug binding	TAS Traceable Author Statement more info	PubMed
opioid receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cell death	IEA Inferred from Electronic Annotation more info
ergosterol biosynthetic process	IEA Inferred from Electronic Annotation more info
lipid transport	IEA Inferred from Electronic Annotation more info
nervous system development	IEA Inferred from Electronic Annotation more info
regulation of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info

Component	Evidence Code	Pubs
cell junction	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
growth cone	IEA Inferred from Electronic Annotation more info
integral to membrane	TAS Traceable Author Statement more info	PubMed
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
lipid particle	IEA Inferred from Electronic Annotation more info
nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
nuclear inner membrane	IEA Inferred from Electronic Annotation more info
nuclear outer membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: sigma non-opioid intracellular receptor 1

Names: sigma non-opioid intracellular receptor 1; SR-BP; SIG-1R; sigma1R; hSigmaR1; SR31747 binding protein 1; sigma 1-type opioid receptor; aging-associated gene 8 protein

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_029945.1 RefSeqGene

Range

5001..8050

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005866.2 → NP_005857.1 sigma non-opioid intracellular receptor 1 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

U79528

Consensus CDS

CCDS6562.1

UniProtKB/Swiss-Prot

Q99720

Related

ENSP00000277010, OTTHUMP00000021286, ENST00000277010, OTTHUMT00000052204

Conserved Domains (1) summary

pfam04622
Location:31 – 219
Blast Score: 691

ERG2_Sigma1R; ERG2 and Sigma1 receptor like protein
NM_147157.1 → NP_671513.1 sigma non-opioid intracellular receptor 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon compared to variant 1. The encoded isoform (2) is missing an internal region relative to isoform 1, which may contribute to its lack of sigma 1 binding activity.

Source sequence(s)

AF226604, BC010104, U79528

Consensus CDS

CCDS6563.1

UniProtKB/TrEMBL

A2A3U5

UniProtKB/Swiss-Prot

Q99720

Conserved Domains (1) summary

pfam04622
Location:31 – 188
Blast Score: 527

ERG2_Sigma1R; ERG2 and Sigma1 receptor like protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000009.11 Reference GRCh37.p10 Primary Assembly

Range

34634719..34637768, complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000141.1 Alternate HuRef

Range

34589001..34592050, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018920.1 Alternate CHM1_1.0

Range

34603064..34606109, complement

Download

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.

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01065009.1 (4557..7606)	None
genomic	AF001975.1	None
genomic	AF001976.1	AAC04507.1
genomic	AF001977.1	AAC04507.1
genomic	AL450283.16 (22259..25308)	None
genomic	AMYH01019338.1 (111749..114794)	None
genomic	CH471071.2	EAW58431.1
		EAW58434.1
		EAW58435.1
		EAW58436.1
mRNA	AF226604.1	AAF64280.1
mRNA	AK098451.1	BAC05307.1
mRNA	AK130502.1	None
mRNA	AK222899.1	BAD96619.1
mRNA	AK291092.1	BAF83781.1
mRNA	AK299130.1	BAG61183.1
mRNA	AY633611.1	AAV33304.1
mRNA	BC004899.2	AAH04899.1
mRNA	BC006307.1	None
mRNA	BC007839.2	AAH07839.1
mRNA	BC010104.1	None
mRNA	CR457075.1	CAG33356.1
mRNA	DQ644568.1	ABG29111.1
mRNA	DQ647702.1	ABG36559.1
mRNA	DQ656583.1	ABG46369.1
mRNA	U75283.1	AAB50402.1
mRNA	U79528.1	AAB51238.1
other-genetic	DQ892881.2	ABM83807.1
other-genetic	DQ896130.2	ABM87129.1