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

Gene ID: 10280, updated on 9-Dec-2018

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
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; 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

Genomic context

See SIGMAR1 in Genome Data Viewer
Location:
9p13.3
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (34634722..34637826, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (34634719..34637805, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene dynactin subunit 3 Neighboring gene AT-rich interaction domain 3C Neighboring gene galactose-1-phosphate uridylyltransferase Neighboring gene interleukin 11 receptor subunit alpha Neighboring gene C-C motif chemokine ligand 27

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC3851, FLJ25585

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 in response to hydrogen peroxide ISS
Inferred from Sequence or Structural Similarity
more info
 
lipid transport IEA
Inferred from Electronic Annotation
more info
 
nervous system development IEA
Inferred from Electronic Annotation
more info
 
opioid receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
protein homotrimerization IPI
Inferred from Physical Interaction
more info
PubMed 
regulation of neuron apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
growth cone IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
lipid droplet 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
 
postsynaptic density IDA
Inferred from Direct Assay
more info
PubMed 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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
    4946..8050
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001282205.1NP_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
    UniProtKB/Swiss-Prot
    Q99720
    UniProtKB/TrEMBL
    B4DR71
    Conserved Domains (1) summary
    pfam04622
    Location:25149
    ERG2_Sigma1R; ERG2 and Sigma1 receptor like protein
  2. NM_001282206.1NP_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:19114
    ERG2_Sigma1R; ERG2 and Sigma1 receptor like protein
  3. NM_001282207.1NP_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
    UniProtKB/Swiss-Prot
    Q99720
    Conserved Domains (1) summary
    pfam04622
    Location:31194
    ERG2_Sigma1R; ERG2 and Sigma1 receptor like protein
  4. NM_001282208.1NP_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
    UniProtKB/Swiss-Prot
    Q99720
    UniProtKB/TrEMBL
    A2A3U5
    Conserved Domains (1) summary
    pfam04622
    Location:25117
    ERG2_Sigma1R; ERG2 and Sigma1 receptor like protein
  5. NM_001282209.1NP_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
    UniProtKB/Swiss-Prot
    Q99720
    UniProtKB/TrEMBL
    A2A3U5
    Conserved Domains (1) summary
    pfam04622
    Location:25102
    ERG2_Sigma1R; ERG2 and Sigma1 receptor like protein
  6. NM_005866.4NP_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
    Q99720
    Related
    ENSP00000277010.4, ENST00000277010.8
    Conserved Domains (1) summary
    pfam04622
    Location:24214
    ERG2_Sigma1R; ERG2 and Sigma1 receptor like protein
  7. NM_147157.2NP_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/Swiss-Prot
    Q99720
    UniProtKB/TrEMBL
    A2A3U5
    Related
    ENSP00000420022.1, ENST00000477726.1
    Conserved Domains (1) summary
    pfam04622
    Location:24183
    ERG2_Sigma1R; ERG2 and Sigma1 receptor like protein

RNA

  1. NR_104108.1 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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    34634722..34637826 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.
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