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Aliases for SIGMAR1 Gene

Aliases for SIGMAR1 Gene

  • Sigma Non-Opioid Intracellular Receptor 1 2 3 5
  • Aging-Associated Gene 8 Protein 3 4
  • Sigma 1-Type Opioid Receptor 3 4
  • HSigmaR1 3 4
  • Sigma1R 3 4
  • SIG-1R 3 4
  • OPRS1 3 4
  • SR-BP 3 4
  • SRBP 3 4
  • SR31747 Binding Protein 1 3
  • Opioid Receptor, Sigma 1 2
  • SR31747-Binding Protein 4
  • Sigma1-Receptor 4
  • SR-BP1 3
  • ALS16 3
  • DSMA2 3

External Ids for SIGMAR1 Gene

Previous HGNC Symbols for SIGMAR1 Gene

  • OPRS1

Previous GeneCards Identifiers for SIGMAR1 Gene

  • GC09M034625
  • GC09M034589

Summaries for SIGMAR1 Gene

Entrez Gene Summary for SIGMAR1 Gene

  • 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]

GeneCards Summary for SIGMAR1 Gene

SIGMAR1 (Sigma Non-Opioid Intracellular Receptor 1) is a Protein Coding gene. Diseases associated with SIGMAR1 include Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 and Amyotrophic Lateral Sclerosis 16, Juvenile. Among its related pathways are Neuroscience. Gene Ontology (GO) annotations related to this gene include receptor activity and opioid receptor activity.

UniProtKB/Swiss-Prot for SIGMAR1 Gene

  • Functions in lipid transport from the endoplasmic reticulum and is involved in a wide array of cellular functions probably through regulation of the biogenesis of lipid microdomains at the plasma membrane. Involved in the regulation of different receptors it plays a role in BDNF signaling and EGF signaling. Also regulates ion channels like the potassium channel and could modulate neurotransmitter release. Plays a role in calcium signaling through modulation together with ANK2 of the ITP3R-dependent calcium efflux at the endoplasmic reticulum. Plays a role in several other cell functions including proliferation, survival and death. Originally identified for its ability to bind various psychoactive drugs it is involved in learning processes, memory and mood alteration (PubMed:16472803, PubMed:9341151). Necessary for proper mitochondrial axonal transport in motor neurons, in particular the retrograde movement of mitochondria (By similarity).

Tocris Summary for SIGMAR1 Gene

  • sigma1 receptors are members of the sigma family of receptors that also includes sigma2 receptors. They are distinguished from sigma2 receptors as they have high affinity and stereoselectivity for the (+)-isomers of pentazocine, SK&F 10047 and cyclazocine, and different subcellular localizations.

Gene Wiki entry for SIGMAR1 Gene

Additional gene information for SIGMAR1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SIGMAR1 Gene

Genomics for SIGMAR1 Gene

GeneHancer (GH) Regulatory Elements for SIGMAR1 Gene

Promoters and enhancers for SIGMAR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I034636 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 558 +0.0 26 2.3 HDGF ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 KLF13 SP3 GALT SIGMAR1 PIGO ENSG00000228352 ENSG00000230074 ARID3C
GH09I034635 Enhancer 0.2 Ensembl 550.8 +1.8 1825 0.4 SIGMAR1 ARID3C
GH09I034610 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 7.1 +25.7 25718 2.5 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 IRF4 ZNF48 YY1 POLR2B RPP25L GALT SIGMAR1 CNTFR
GH09I034619 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 6.9 +17.4 17440 1.5 HDGF PKNOX1 ATF1 ARID4B SIN3A DMAP1 BRCA1 ZNF48 YY1 ELK1 DCTN3 UBAP2 FAM205A RPP25L C9orf131 ATP8B5P VCP SIGMAR1
GH09I034645 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 5.7 -9.4 -9447 2.6 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 ZNF213 GALT ENSG00000258728 PIGO DCTN3 ENSG00000228352 SIGMAR1 IL11RA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SIGMAR1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SIGMAR1 gene promoter:

Genomic Locations for SIGMAR1 Gene

Genomic Locations for SIGMAR1 Gene
chr9:34,634,722-34,637,826
(GRCh38/hg38)
Size:
3,105 bases
Orientation:
Minus strand
chr9:34,634,719-34,637,806
(GRCh37/hg19)

Genomic View for SIGMAR1 Gene

Genes around SIGMAR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SIGMAR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SIGMAR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SIGMAR1 Gene

Proteins for SIGMAR1 Gene

  • Protein details for SIGMAR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99720-SGMR1_HUMAN
    Recommended name:
    Sigma non-opioid intracellular receptor 1
    Protein Accession:
    Q99720
    Secondary Accessions:
    • D3DRM7
    • O00673
    • O00725
    • Q0Z9W6
    • Q153Z1
    • Q2TSD1
    • Q53GN2
    • Q7Z653
    • Q8N7H3
    • Q9NYX0

    Protein attributes for SIGMAR1 Gene

    Size:
    223 amino acids
    Molecular mass:
    25128 Da
    Quaternary structure:
    • Homotrimer (PubMed:27042935). Forms a ternary complex with ANK2 and ITPR3. The complex is disrupted by agonists. Interacts with KCNA4 (By similarity). Interacts with KCNA2; cocaine consumption leads to increased interaction (By similarity).
    Miscellaneous:
    • Depletion by RNAi inhibits growth and survival signaling cascades and induces cell death. The antagonist rimcazole produces the same effect.
    • Sigma receptors are classified into two subtypes (Sigma-1 and Sigma-2) based on their different pharmacological profile.

    Three dimensional structures from OCA and Proteopedia for SIGMAR1 Gene

    Alternative splice isoforms for SIGMAR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SIGMAR1 Gene

Post-translational modifications for SIGMAR1 Gene

  • Ubiquitination at isoforms=2, 5142
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SIGMAR1 Gene

Domains & Families for SIGMAR1 Gene

Gene Families for SIGMAR1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted membrane proteins
  • Predicted secreted proteins
  • Transporters

Protein Domains for SIGMAR1 Gene

Graphical View of Domain Structure for InterPro Entry

Q99720

UniProtKB/Swiss-Prot:

SGMR1_HUMAN :
  • The C-terminal helices form a flat, hydrophobic surface that is probably tightly associated with the cytosolic surface of the endoplasmic reticulum membrane.
  • Belongs to the ERG2 family.
Domain:
  • The C-terminal helices form a flat, hydrophobic surface that is probably tightly associated with the cytosolic surface of the endoplasmic reticulum membrane.
Family:
  • Belongs to the ERG2 family.
genes like me logo Genes that share domains with SIGMAR1: view

Function for SIGMAR1 Gene

Molecular function for SIGMAR1 Gene

UniProtKB/Swiss-Prot Function:
Functions in lipid transport from the endoplasmic reticulum and is involved in a wide array of cellular functions probably through regulation of the biogenesis of lipid microdomains at the plasma membrane. Involved in the regulation of different receptors it plays a role in BDNF signaling and EGF signaling. Also regulates ion channels like the potassium channel and could modulate neurotransmitter release. Plays a role in calcium signaling through modulation together with ANK2 of the ITP3R-dependent calcium efflux at the endoplasmic reticulum. Plays a role in several other cell functions including proliferation, survival and death. Originally identified for its ability to bind various psychoactive drugs it is involved in learning processes, memory and mood alteration (PubMed:16472803, PubMed:9341151). Necessary for proper mitochondrial axonal transport in motor neurons, in particular the retrograde movement of mitochondria (By similarity).

Gene Ontology (GO) - Molecular Function for SIGMAR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004985 opioid receptor activity IEA --
GO:0008144 drug binding TAS 8954936
genes like me logo Genes that share ontologies with SIGMAR1: view
genes like me logo Genes that share phenotypes with SIGMAR1: view

Human Phenotype Ontology for SIGMAR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SIGMAR1 Gene

MGI Knock Outs for SIGMAR1:

Animal Model Products

  • Taconic Biosciences Mouse Models for SIGMAR1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for SIGMAR1 Gene

Localization for SIGMAR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SIGMAR1 Gene

Nucleus inner membrane. Nucleus outer membrane. Nucleus envelope. Cytoplasmic vesicle. Endoplasmic reticulum membrane. Membrane; Single-pass membrane protein. Lipid droplet. Cell junction. Cell membrane. Cell projection, growth cone. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Note=During interphase, detected at the inner and outer nuclear membrane and the endoplasmic reticulum. Detected on cytoplasmic vesicles during mitosis (PubMed:10406945). Targeted to lipid droplets, cholesterol and galactosylceramide-enriched domains of the endoplasmic reticulum. Accumulation at the endoplasmic reticulum is prominent in alpha-motor neurons of patients with amyotrophic lateral sclerosis (PubMed:23314020). Enriched at cell-cell communication regions, growth cone and postsynaptic structures. Localization is modulated by ligand-binding. In motor neurons it is enriched at cholinergic postsynaptic densities (By similarity). {ECO:0000250 UniProtKB:O55242, ECO:0000269 PubMed:10406945, ECO:0000269 PubMed:23314020}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SIGMAR1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
endoplasmic reticulum 5
extracellular 2
mitochondrion 2
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SIGMAR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IDA,IEA 9341151
GO:0005637 nuclear inner membrane IEA --
GO:0005640 nuclear outer membrane IEA --
GO:0005783 endoplasmic reticulum IDA,IEA 10406945
genes like me logo Genes that share ontologies with SIGMAR1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SIGMAR1 Gene

Pathways & Interactions for SIGMAR1 Gene

SuperPathways for SIGMAR1 Gene

SuperPathway Contained pathways
1 Neuroscience
genes like me logo Genes that share pathways with SIGMAR1: view

Pathways by source for SIGMAR1 Gene

1 Cell Signaling Technology pathway for SIGMAR1 Gene

Gene Ontology (GO) - Biological Process for SIGMAR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006869 lipid transport IEA --
GO:0007399 nervous system development IEA --
GO:0038003 opioid receptor signaling pathway IEA --
GO:0043523 regulation of neuron apoptotic process IMP 21842496
genes like me logo Genes that share ontologies with SIGMAR1: view

No data available for SIGNOR curated interactions for SIGMAR1 Gene

Drugs & Compounds for SIGMAR1 Gene

(53) Drugs for SIGMAR1 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dextromethorphan Approved Pharma Target, Target, agonist 140
Naltrexone Approved, Investigational, Vet_approved Pharma Antagonist, Target, antagonist Opioid receptor antagonist 406
Pentazocine Approved, Vet_approved Pharma Target, agonist 9
Remoxipride Approved, Withdrawn Pharma Target, antagonist 0
Cocaine Approved, Illicit Pharma Target 533

(5) Additional Compounds for SIGMAR1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for SIGMAR1 Gene

Compound Action Cas Number
(+-)-PPCC oxalate Selective sigma (sigma) agonist (sigma1> sigma2) 932736-91-9
(+)-SK&F 10047 hydrochloride sigma1 selective agonist 133005-41-1
DMT Endogenous sigma1 ligand. Also 5-HT2A agonist 61-50-7
PRE-084 hydrochloride Highly selective sigma1 agonist 138847-85-5
SA 4503 dihydrochloride Selective sigma1 receptor agonist 165377-44-6

(23) ApexBio Compounds for SIGMAR1 Gene

Compound Action Cas Number
(+)-Igmesine hydrochloride σ1 receptor ligand 130152-35-1
(+)-SK&F 10047 hydrochloride prototypical σ1 receptor agonist 133005-41-1
(±)-PPCC oxalate 932736-91-9
4-IBP 155798-08-6
4-PPBP maleate 201216-39-9
BD 1008 dihydrobromide δ1-receptor antagonist,potent and selective 138356-09-9
BD 1047 dihydrobromide σ1 receptor antagonist 138356-21-5
BD 1063 dihydrochloride σ1 receptor antagonist,potent and selective 206996-13-6
DTG 97-39-2
IPAG 193527-91-2
L-693,403 maleate 207455-21-8
Metaphit 96316-00-6
N-[2-(Piperidinylamino)ethyl]-4-iodobenzamide 155054-42-5
NE 100 hydrochloride 149409-57-4
PB 28 dihydrochloride 172907-03-8
PD 144418 oxalate 154130-99-1
PRE-084 hydrochloride selective σ1 receptor agonist 75136-54-8
Rimcazole dihydrochloride 75859-03-9
S1RA σ1R antagonist 878141-96-9
S1RA hydrochloride σ1R antagonist 1265917-14-3
SA 4503 dihydrochloride 165377-44-6
Siramesine Sigma (σ) receptor agonist 147817-50-3
TC 1 362512-81-0
genes like me logo Genes that share compounds with SIGMAR1: view

Drug Products

Transcripts for SIGMAR1 Gene

Unigene Clusters for SIGMAR1 Gene

Sigma non-opioid intracellular receptor 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SIGMAR1 Gene

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: - - - -
SP6: - - -
SP7: -
SP8: -
SP9: - - - -
SP10: - - -
SP11:

Relevant External Links for SIGMAR1 Gene

GeneLoc Exon Structure for
SIGMAR1
ECgene alternative splicing isoforms for
SIGMAR1

Expression for SIGMAR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SIGMAR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SIGMAR1 Gene

This gene is overexpressed in Liver (x4.5).

Protein differential expression in normal tissues from HIPED for SIGMAR1 Gene

This gene is overexpressed in Bone (14.4) and Gallbladder (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SIGMAR1 Gene



Protein tissue co-expression partners for SIGMAR1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SIGMAR1 Gene:

SIGMAR1

SOURCE GeneReport for Unigene cluster for SIGMAR1 Gene:

Hs.522087

mRNA Expression by UniProt/SwissProt for SIGMAR1 Gene:

Q99720-SGMR1_HUMAN
Tissue specificity: Widely expressed with higher expression in liver, colon, prostate, placenta, small intestine, heart and pancreas. Expressed in the retina by retinal pigment epithelial cells. Expressed in alpha-motor neurons (PubMed:23314020).

Evidence on tissue expression from TISSUES for SIGMAR1 Gene

  • Nervous system(4.9)
  • Liver(4.5)
  • Kidney(4.3)
  • Muscle(4.3)
  • Blood(4.2)
  • Thyroid gland(4.2)
  • Skin(3.9)
  • Eye(2.1)
  • Heart(2.1)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SIGMAR1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • pharynx
  • salivary gland
  • skull
  • tongue
Thorax:
  • esophagus
  • lung
Abdomen:
  • stomach
Limb:
  • arm
  • digit
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • toe
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with SIGMAR1: view

Orthologs for SIGMAR1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SIGMAR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SIGMAR1 33 34
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia SIGMAR1 33 34
  • 93.72 (n)
cow
(Bos Taurus)
Mammalia SIGMAR1 33 34
  • 92.64 (n)
rat
(Rattus norvegicus)
Mammalia Sigmar1 33
  • 88.04 (n)
mouse
(Mus musculus)
Mammalia Sigmar1 33 16 34
  • 86.19 (n)
oppossum
(Monodelphis domestica)
Mammalia SIGMAR1 34
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves SIGMAR1 33 34
  • 75.79 (n)
lizard
(Anolis carolinensis)
Reptilia SIGMAR1 34
  • 66 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.14555 33
zebrafish
(Danio rerio)
Actinopterygii sigmar1 33 34
  • 70.26 (n)
zgc56378 33
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL181C 33
  • 49.87 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG2 33 34
  • 48.6 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F06336g 33
  • 41.53 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU04156 33
  • 48.41 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erg2 33
  • 41.87 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5805 34
  • 22 (a)
OneToOne
Species where no ortholog for SIGMAR1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SIGMAR1 Gene

ENSEMBL:
Gene Tree for SIGMAR1 (if available)
TreeFam:
Gene Tree for SIGMAR1 (if available)

Paralogs for SIGMAR1 Gene

No data available for Paralogs for SIGMAR1 Gene

Variants for SIGMAR1 Gene

Sequence variations from dbSNP and Humsavar for SIGMAR1 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs10972178 benign, Amyotrophic lateral sclerosis 16, juvenile, Distal spinal muscular atrophy, autosomal recessive 2 34,637,332(-) C/T 5_prime_UTR_variant, coding_sequence_variant, splice_donor_variant, synonymous_variant
rs11559048 benign, Amyotrophic lateral sclerosis 16, juvenile, Distal spinal muscular atrophy, autosomal recessive 2 34,635,682(-) G/A 3_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs12115733 benign, Amyotrophic lateral sclerosis 16, juvenile, Distal spinal muscular atrophy, autosomal recessive 2 34,637,419(-) C/A/T 5_prime_UTR_variant, coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs140376902 Distal spinal muscular atrophy, autosomal recessive, 2 (DSMA2) [MIM:605726] 34,637,378(-) A/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs200076129 uncertain-significance, Amyotrophic lateral sclerosis 16, juvenile, Distal spinal muscular atrophy, autosomal recessive 2 34,635,841(-) C/A/T 3_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SIGMAR1 Gene

Variant ID Type Subtype PubMed ID
dgv12659n54 CNV loss 21841781
esv3620335 CNV gain 21293372
nsv1125318 OTHER inversion 24896259
nsv1161857 CNV deletion 26073780
nsv818699 CNV gain 17921354

Variation tolerance for SIGMAR1 Gene

Residual Variation Intolerance Score: 40.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.72; 86.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SIGMAR1 Gene

Human Gene Mutation Database (HGMD)
SIGMAR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SIGMAR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SIGMAR1 Gene

Disorders for SIGMAR1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for SIGMAR1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spinal muscular atrophy, distal, autosomal recessive, 2
  • dsma2
amyotrophic lateral sclerosis 16, juvenile
  • als16
juvenile amyotrophic lateral sclerosis
  • amyotrophic lateral sclerosis, juvenile
lateral sclerosis
  • motor neuron disease
cocaine abuse
  • cocaine-related disorders
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SGMR1_HUMAN
  • Amyotrophic lateral sclerosis 16, juvenile (ALS16) [MIM:614373]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269 PubMed:21842496}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Distal spinal muscular atrophy, autosomal recessive, 2 (DSMA2) [MIM:605726]: An autosomal recessive neuromuscular disorder characterized by onset of distal muscle weakness and wasting affecting the lower and upper limbs in the first decade. There is no sensory involvement. {ECO:0000269 PubMed:26078401, ECO:0000269 PubMed:27629094}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SIGMAR1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SIGMAR1: view

No data available for Genatlas for SIGMAR1 Gene

Publications for SIGMAR1 Gene

  1. Colocalization of sterol isomerase and sigma(1) receptor at endoplasmic reticulum and nuclear envelope level. (PMID: 10406945) Dussossoy D … Casellas P (European journal of biochemistry 1999) 3 4 22 58
  2. Exon-intron structure, analysis of promoter region, and chromosomal localization of the human type 1 sigma receptor gene. (PMID: 9453537) Prasad PD … Ganapathy V (Journal of neurochemistry 1998) 2 3 4 58
  3. Cloning and functional expression of the human type 1 sigma receptor (hSigmaR1). (PMID: 8954936) Kekuda R … Ganapathy V (Biochemical and biophysical research communications 1996) 2 3 4 58
  4. Crystal structure of the human σ1 receptor. (PMID: 27042935) Schmidt HR … Kruse AC (Nature 2016) 3 4 58
  5. A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy. (PMID: 26078401) Li X … Zhang R (Neurology 2015) 3 4 58

Products for SIGMAR1 Gene

Sources for SIGMAR1 Gene

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