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

    Gene ID: 10280, updated on 8-Jul-2018
    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; 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; 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
    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

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    Products Interactant Other Gene Complex Source Pubs Description

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

    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, OTTHUMP00000021287, ENST00000378892.5, OTTHUMT00000052205
      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_005866.3NP_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, BE018138
      Consensus CDS
      CCDS6562.1
      UniProtKB/Swiss-Prot
      Q99720
      Related
      ENSP00000277010.4, OTTHUMP00000021286, ENST00000277010.8, OTTHUMT00000052204
      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, OTTHUMP00000159911, ENST00000477726.1, OTTHUMT00000251704
      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, OTTHUMT00000052206

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    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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