SIGMAR1 Gene
protein-coding GIFtS: 56
GCID: GC09M034634
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sigma non-opioid intracellular receptor 1(Previous names: opioid receptor, sigma 1 ) (Previous symbol: OPRS1)
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Aliases for SIGMAR1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Sigma Non-Opioid Intracellular Receptor 11 2 | | HSigmaR11 | | OPRS11 2 3 | | Opioid Receptor, Sigma 11 | | SRBP2 3 5 | | ALS162 | | SR-BP11 2 | | Sigma1R3 | | Aging-Associated Gene 8 Protein2 3 | | SR31747 Binding Protein 12 | | Sigma 1-Type Opioid Receptor2 3 | | Sigma1-Receptor1 | | SIG-1R2 3 | | Sigma1R3 | | SR-BP2 3 | | SR31747-Binding Protein3 |
Export aliases for SIGMAR1 gene to outside databasesPrevious GC identifers: GC09M034625 GC09M034589 |
Summaries for SIGMAR1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for SIGMAR1: This gene encodes a receptor protein that interacts with a variety of psychotomimetic drugs, including cocaine andamphetamines. The receptor is believed to play an important role in the cellular functions of various tissuesassociated 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 anon-opioid receptor. Alternative splicing of this gene results in transcript variants encoding distinct isoforms.(provided by RefSeq, Dec 2008) UniProtKB/Swiss-Prot: SGMR1_HUMAN, Q99720Function: Functions in lipid transport from the endoplasmic reticulum and is involved in a wide array of cellularfunctions probably through regulation of the biogenesis of lipid microdomains at the plasma membrane. Involved in theregulation of different receptors it plays a role in BDNF signaling and EGF signaling. Also regulates ion channelslike the potassium channel and could modulate neurotransmitter release. Plays a role in calcium signaling throughmodulation together with ANK2 of the ITP3R-dependent calcium efflux at the endoplasmic reticulum. Plays a role inseveral other cell functions including proliferation, survival and death. Originally identified for its ability tobind various psychoactive drugs it is involved in learning processes, memory and mood alteration
summary
for SIGMAR1: Sigma1 receptors are members of the sigma family of receptors that also includes sigma2 receptors. Originally thought to be opioid receptors or the phencyclidine binding site on the NMDA receptor, they are now known to be distinct targets. These receptors are distinguished from sigma2 receptors as they exhibit high affinity and stereoselectivity for the (+)-isomers of pentazocine, SK&F 10047 and cyclazocine, as well as having different tissue distribution patterns and subcellular localizations. sigma1 receptors are distributed throughout the central nervous system (especially the hippocampal formation and other limbic areas) and in various peripheral tissues, including the liver, kidneys, lungs and muscles. These single transmembrane receptors are found on the plasma, mitochondrial and endoplasmic reticular membranes and are primarily associated with neuronal perikarya and dendrites. There has been extensive study of sigma receptors since their discovery over twenty years ago. Sigma ligands are thought to have potential as pharmacological agents in modulation of mood disorders, amnesic and cognitive deficits, the effects produced by drug abuse, tardive dyskinesia and the potentiation of analgesia. Gene Wiki entry for SIGMAR1 (Sigma-1 receptor)
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Genomic Views for SIGMAR1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000009.11 NC_018920.1 NT_008413.18
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the SIGMAR1 gene promoter: p53 AP-1 ATF-2 Other transcription factors
Search SABiosciences Chromatin IP Primers for SIGMAR1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SIGMAR1 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 9p13.3 Ensembl cytogenetic band: 9p13.3 HGNC cytogenetic band: 9p13.3SIGMAR1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 9 GeneLoc Exon Structure GeneLoc location for GC09M034634: view genomic region
(about GC identifiers)
Start:
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34,634,719 bp from pter |
End:
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34,637,806 bp from pter |
Size:
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3,088 bases |
Orientation:
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minus strand |
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Proteins for SIGMAR1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: SGMR1_HUMAN, Q99720 (See
protein sequence)Recommended Name: Sigma non-opioid intracellular receptor 1 Size: 223 amino acids; 25128 Da
Subunit: Forms a ternary complex with ANK2 and ITPR3. The complex is disrupted by agonists. Interacts with KCNA4 (Bysimilarity)
Subcellular location: Nucleus inner membrane. Nucleus outer membrane. Endoplasmic reticulum membrane. Lipid droplet.Cell junction. Cell membrane. Cell projection, growth cone. Note=Targeted to lipid droplets, cholesterol andgalactosylceramide-enriched domains of the endoplasmic reticulum. Enriched at cell-cell communication regions, growthcone and postsynaptic structures. Localization is modulated by ligand-binding
Miscellaneous: Depletion by RNAi inhibits growth and survival signaling cascades and induces cell death. The antagonistrimcazole produces the same effect
Secondary accessions: D3DRM7 O00673 O00725 Q0Z9W6 Q153Z1 Q2TSD1 Q53GN2 Q7Z653 Q8N7H3 Q9NYX0Alternative splicing: 5 isoforms: Q99720-1 Q99720-2 Q99720-3 Q99720-4 Q99720-5 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for SIGMAR1: NX_Q99720
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q99720 SIGMAR1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_005857.1 NP_671513.1 ENSEMBL proteins: ENSP00000368170 ENSP00000434453 ENSP00000277010 ENSP00000420022 Human Recombinant Protein Products:
Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10): About this table
SIGMAR1 for ontologies About GeneDecksing
SIGMAR1 Antibody Products: Assay Products for SIGMAR1: |
Protein
Domains / Families for SIGMAR1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SIGMAR1 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q99720ProtoNet protein and cluster: Q99720 1 Blocks protein family: IPB006716 ERG2 and sigma1 receptor-like protein
UniProtKB/Swiss-Prot: SGMR1_HUMAN, Q99720Similarity: Belongs to the ERG2 family |
Function for SIGMAR1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: SGMR1_HUMAN, Q99720Function: Functions in lipid transport from the endoplasmic reticulum and is involved in a wide array of cellularfunctions probably through regulation of the biogenesis of lipid microdomains at the plasma membrane. Involved in theregulation of different receptors it plays a role in BDNF signaling and EGF signaling. Also regulates ion channelslike the potassium channel and could modulate neurotransmitter release. Plays a role in calcium signaling throughmodulation together with ANK2 of the ITP3R-dependent calcium efflux at the endoplasmic reticulum. Plays a role inseveral other cell functions including proliferation, survival and death. Originally identified for its ability tobind various psychoactive drugs it is involved in learning processes, memory and mood alteration
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SIGMAR1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SIGMAR1 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): SIGMAR1 (NM_147157) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SIGMAR1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SIGMAR1  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIGMAR1 |
Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table
SIGMAR1 for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for SIGMAR1: Animal Models: 1 MGI mutant phenotype (inferred from 2 alleles ) (MGI details for Sigmar1):
SIGMAR1 for phenotypes About GeneDecksing
|
Pathways & Interactions for SIGMAR1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SIGMAR1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
 5/27 Interacting proteins for SIGMAR1 (Q997203 ENSP000002770104) via UniProtKB, MINT, STRING, and/or I2D (see all 27)About this table
Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table
SIGMAR1 for ontologies About GeneDecksing
|
Drugs & Compounds for SIGMAR1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
SIGMAR1 for compounds About GeneDecksing
 |
Enzo Life Sciences drugs & compounds for SIGMAR1 |
Compounds for SIGMAR1 available from Tocris Bioscience About this table
2 HMDB Compounds for SIGMAR1 About this table
5 DrugBank Compounds for SIGMAR1 About this table
10/12 Novoseek chemical compound relationships for SIGMAR1 gene (see all 12) About this table
Search CenterWatch for drugs/clinical trials and news about SIGMAR1 / SGMR1 
|
Transcripts for SIGMAR1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for SIGMAR1 gene (5 alternative transcripts): NM_005866.2 NM_147157.1 NM_147158.1 NM_147159.1 NM_147160.2 Unigene Cluster for SIGMAR1: Sigma non-opioid intracellular receptor 1 Hs.522087 [show with all ESTs]Unigene Representative Sequence: AK1305028 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000378892(uc003zuz.3) ENST00000353468 ENST00000277010(uc003zva.4 uc003zvb.3 uc003zvc.3 uc003zvd.3 uc011loo.1) ENST00000476705 ENST00000477726 ENST00000461426 ENST00000497006 ENST00000478146
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SIGMAR1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SIGMAR1 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): SIGMAR1 (NM_147157) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SIGMAR1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SIGMAR1  |
Additional cDNA sequence: AF226604.1 AK098451.1 AK130502.1 AK222899.1 AK291092.1 AK299130.1 AY633611.1 BC004899.2 BC007839.2 CR457075.1 DQ644568.1 DQ647702.1 DQ656583.1 U75283.1 U79528.1 22 DOTS entries: DT.100884984 DT.216839 DT.92455053 DT.99985706 DT.101985446 DT.100884994 DT.100045181 DT.75154631 DT.121165570 DT.95270500 DT.100884998 DT.100885001 DT.100885009 DT.92455046 DT.100884989 DT.100885004 DT.100885007 DT.100885011 DT.121165534 DT.95270523 DT.100885010 DT.40123046 24/574 AceView cDNA sequences (see all 574): AF226604 BE255885 BU174340 BI822247 BQ009227 BM973970 BU845959 CR609235 AL527309 AA316259 BX418964 BI090530 BE794509 BU557093 BC010104 BQ018910 CR603042 CR624845 BQ643117 CR619527 BU682669 BE894797 NM_005866 CR622156 GeneLoc Exon Structure
5/11 Alternative Splicing Database (ASD) splice patterns (SP) for SIGMAR1 (see all 11) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | · | 5c | · | 5d | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | - |   | - |   | - |   | - |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | - |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for SIGMAR1
|
Expression for SIGMAR1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| SIGMAR1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: CACTCACACC
About this image See SIGMAR1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for SIGMAR1
SOURCE GeneReport for Unigene cluster: Hs.522087 UniProtKB/Swiss-Prot: SGMR1_HUMAN, Q99720Tissue specificity: Widely expressed with higher expression in liver, colon, prostate, placenta, small intestine, heartand pancreas. Expressed in the retina by retinal pigment epithelial cells SABiosciences Expression via Pathway-Focused PCR Arrays including SIGMAR1:
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SIGMAR1 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SIGMAR1 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SIGMAR1 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SIGMAR1 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIGMAR1 |
Orthologs for SIGMAR1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals and fungi.
Orthologs for SIGMAR1 gene from 6/21 species (see all 21) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
mouse (Mus musculus) |
Mammalia |
Sigmar11 , 5 |
sigma non-opioid intracellular receptor 11, 5 |
86.19(n)1 90.54(a)1 |
  |
4 (22.05 cM)5 183911 NM_011014.21 NP_035144.11 417384935 |
chicken (Gallus gallus) |
Aves |
SIGMAR11 |
sigma non-opioid intracellular receptor 1 |
74.26(n) 70.79(a) |
  |
100859748 XM_003642979.1 XP_003643027.1 |
lizard (Anolis carolinensis) |
Reptilia |
SIGMAR16 |
-- |
66(a) |
1 ↔ 1 |
GL343305.1(60722-68887) |
African clawed frog (Xenopus laevis) |
Amphibia |
Xl.145552 |
Xenopus laevis transcribed sequence with weak similarity more |
83.23(n) |
  |
CF549299.1 |
zebrafish (Danio rerio) |
Actinopterygii |
zgc563782 |
similar to opioid receptor, sigma 1 |
77.43(n) |
  |
393952 BC049416.1 |
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes |
ERG21 |
Erg2p |
48.6(n) 41.98(a) |
  |
855242 NP_013929.1 |
ENSEMBL Gene Tree for SIGMAR1 (if available) TreeFam Gene Tree for SIGMAR1 (if available)  |
Paralogs for SIGMAR1 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| -- |
Genomic Variants for SIGMAR1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 9 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for SIGMAR1 (34634719 - 34637806 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for SIGMAR1 1 CNV: 9615 Human Gene Mutation Database (HGMD): SIGMAR1
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SIGMAR1 |
|
Disorders
/ Diseases for SIGMAR1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SIGMAR1 for disorders About GeneDecksing
OMIM gene information: 601978
OMIM disorders: --
UniProtKB/Swiss-Prot: SGMR1_HUMAN, Q99720
Defects in SIGMAR1 are the cause of amyotrophic lateral sclerosis type 16, juvenile (ALS16) [MIM:614373].ALS16 is a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brainstem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of thedisease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positiveinclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophiclateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease isinherited in 5-10% of the cases 20/24 diseases for SIGMAR1 (see all 24): About MalaCardstardive dyskinesia mood disorder thoracic aortic aneurysm aortic aneurysm cocaine abuse major depressive disorder anorexia nervosa neuronitis motor neuron disease neurodegenerative disease lateral sclerosis parkinson's disease alzheimer's disease breast cancer glioblastoma hypertension cholesterol retinitis neuroblastoma schizophrenia
2 Novoseek disease relationships for SIGMAR1 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| neurodegenerative diseases |
15.4 |
1 |
18076369 (1) |
| cancer |
0 |
5 |
16388898 (3), 17534441 (1) |
Human Genome Epidemiology (HuGE) Navigator: SIGMAR1 (11 documents) Export disorders for SIGMAR1 gene to outside databases
|
Publications for SIGMAR1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for SIGMAR1 gene, integrated from 9 sources (see all 122): (articles sorted by number of sources associating them with SIGMAR1) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Exon-intron structure, analysis of promoter region, and chromosomal localization of the human type 1 sigma receptor gene. (PubMed id 9453537)1, 2, 3 Prasad P.D....Ganapathy V. (1998)
- Cloning and functional expression of the human type 1 sigma receptor (hSigmaR1). (PubMed id 8954936)1, 2, 3 Kekuda R.... Ganapathy V. (1996)
- Colocalization of sterol isomerase and sigma(1) receptor at endoplasmic reticulum and nuclear envelope level. (PubMed id 10406945)1, 2, 9 Dussossoy D.... Casellas P. (1999)
- A mutation in sigma-1 receptor causes juvenile amyotr ophic lateral sclerosis. (PubMed id 21842496)1, 2 Al-Saif A....Bohlega S. (2011)
- Silencing of sigma-1 receptor induces cell death in human lens cells. (PubMed id 16472803)1, 2 Wang L. and Duncan G. (2006)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Lack of association between sigma receptor gene variants and schizophrenia. (PubMed id 15298647)1, 2 Satoh F.... Suwaki H. (2004)
- Expression pattern of the type 1 sigma receptor in the brain and identity of critical anionic amino acid residues in the ligand-binding domain of the receptor. (PubMed id 11476895)1, 2 Seth P.... Ganapathy V. (2001)
|
External Searches for SIGMAR1 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing SIGMAR1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SIGMAR1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SIGMAR1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for SIGMAR1 | Pharmacogenomics, SNPs, Pathways | | Wikipedia | http://en.wikipedia.org/wiki/Sigma_1_Receptor |
|
| | |
About This Section
| Patent Information for SIGMAR1 gene: Search GeneIP for patents involving SIGMAR1
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products for SIGMAR1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
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| | | | OriGene Antibodies for SIGMAR1 | | OriGene shRNA RFP for SIGMAR1 | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SIGMAR1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SIGMAR1 | | OriGene Protein Over-expression Lysate for SIGMAR1 | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for SIGMAR1 | | OriGene 3'-UTR Clone for SIGMAR1 | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SIGMAR1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SIGMAR1 | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | OriGene Purified Protein for SIGMAR1 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | OriGene Custom Antibody Services for SIGMAR1 | | OriGene Custom Protein Services for SIGMAR1 | | OriGene Custom Immunoassay Development | | |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SIGMAR1 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SIGMAR1 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SIGMAR1 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SIGMAR1 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SIGMAR1 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SIGMAR1 |
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 | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIGMAR1 |
|  |  |  | | | ThermoFisher Antibodies for SIGMAR1 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SIGMAR1 |
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