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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. 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

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

Genomics for SIGMAR1 Gene

Regulatory Elements for SIGMAR1 Gene

Enhancers for SIGMAR1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F034575 1.3 FANTOM5 Ensembl ENCODE 10.7 +59.6 59599 5.1 ZNF263 CTCF RNF2 CBX2 REST ZFHX2 JUND ZNF366 POLR2A ZNF341 GALT RPP25L ENSG00000230074 ENHO FAM219A ENSG00000232983 ARID3C CNTFR ENSG00000230729 SIGMAR1
GH09F034437 0.4 ENCODE 10.6 +200.3 200279 0.2 CTCF ZNF654 MAX TRIM22 MIER2 REST RAD21 ZNF692 ZNF143 SMC3 FAM219A NUDT2 ENSG00000230729 RPP25L ENHO ARID3C SIGMAR1 GALT DCTN3 DNAI1
GH09F034430 0.5 Ensembl ENCODE 10.6 +206.8 206810 0.4 KLF16 MIER1 GLIS1 SIN3A MIER2 REST DNAI1 FAM219A ENSG00000230729 RPP25L ENHO ARID3C GALT SIGMAR1 DCTN3 C9orf24
GH09F034573 0.2 ENCODE 10.4 +63.2 63224 1.8 GALT ENSG00000232983 RPP25L ENHO ENSG00000230729 DCTN3 ARID3C SIGMAR1 NUDT2 GC09P034579
GH09F034512 0.9 Ensembl ENCODE 10.2 +124.5 124463 1.3 CTCF SOX13 RAD21 THRB RARA ZNF335 FOXK2 RERE NR2F6 ZNF652 CNTFR FAM219A DNAI1 RPP25L ARID3C GALT SIGMAR1 FANCG PIR54959 RN7SKP24
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SIGMAR1 on UCSC Golden Path with GeneCards custom track

Promoters for SIGMAR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001908511 526 2201 HDGF ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 ZNF263
ENSR00001302665 -874 201

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

Genomic Location for SIGMAR1 Gene

Chromosome:
9
Start:
34,634,722 bp from pter
End:
34,637,826 bp from pter
Size:
3,105 bases
Orientation:
Minus strand

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.

    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 Lys 142
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for SIGMAR1

No data available for DME Specific Peptides for SIGMAR1 Gene

Domains & Families for SIGMAR1 Gene

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

No data available for Gene Families for SIGMAR1 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for SIGMAR1 Gene COMPARTMENTS Subcellular localization image for SIGMAR1 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 4
plasma membrane 4
extracellular 2
golgi apparatus 1
lysosome 1
mitochondrion 1
vacuole 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 IEA,IDA 9341151
GO:0005637 nuclear inner membrane IEA --
GO:0005640 nuclear outer membrane IEA --
GO:0005783 endoplasmic reticulum IEA,IDA 10406945
genes like me logo Genes that share ontologies with SIGMAR1: view

Pathways & Interactions for SIGMAR1 Gene

SuperPathways for SIGMAR1 Gene

No Data Available

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 Pathways by source and SIGNOR curated interactions for SIGMAR1 Gene

Drugs & Compounds for SIGMAR1 Gene

(54) 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 agonist, Target, Target 129
Pentazocine Approved, Vet_approved Pharma Target, agonist 9
Remoxipride Approved, Withdrawn Pharma Target, antagonist 0
Naltrexone Approved, Investigational, Vet_approved Pharma Antagonist, antagonist, Target Opioid receptor antagonist 378
Amitriptyline Approved Pharma Antagonist, Target, agonist 107

(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
(+)-SK&F 10047 hydrochloride sigma1 selective agonist 133005-41-1
BD 1047 dihydrobromide sigma1 selective antagonist 138356-21-5
NE 100 hydrochloride Selective sigma1 antagonist 149409-57-4
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:

Inhibitory RNA Products

Flow Cytometry 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 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).
genes like me logo Genes that share expression patterns with SIGMAR1: view

Primer Products

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 34 35
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia SIGMAR1 34 35
  • 93.72 (n)
cow
(Bos Taurus)
Mammalia SIGMAR1 34 35
  • 92.64 (n)
rat
(Rattus norvegicus)
Mammalia Sigmar1 34
  • 88.04 (n)
mouse
(Mus musculus)
Mammalia Sigmar1 34 16 35
  • 86.19 (n)
oppossum
(Monodelphis domestica)
Mammalia SIGMAR1 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves SIGMAR1 34 35
  • 75.79 (n)
lizard
(Anolis carolinensis)
Reptilia SIGMAR1 35
  • 66 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.14555 34
zebrafish
(Danio rerio)
Actinopterygii sigmar1 34 35
  • 70.26 (n)
zgc56378 34
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL181C 34
  • 49.87 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG2 34 35
  • 48.6 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F06336g 34
  • 41.53 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU04156 34
  • 48.41 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erg2 34
  • 41.87 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5805 35
  • 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 Sequence Context AA Info Type
rs387906829 Amyotrophic lateral sclerosis 16, juvenile (ALS16) [MIM:614373], Pathogenic 34,637,268(-) TGTCC(C/G)AGTAT intron-variant, reference, synonymous-codon, missense
rs780136067 Pathogenic 34,637,288(+) CAGAA(-/G)GGCAC intron-variant, reference, frameshift-variant
rs796065352 Pathogenic 34,637,546(-) CGCTG(G/T)TGAGC intron-variant, splice-donor-variant
rs4879809 Uncertain significance 34,635,601(+) CTGTC(C/T)ATCCG nc-transcript-variant, utr-variant-3-prime
rs10580085 -- 34,634,803(+) TGATA(-/TG)TGTGT nc-transcript-variant, upstream-variant-2KB, utr-variant-3-prime

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)

Relevant External Links 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

(7) MalaCards diseases for SIGMAR1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spinal muscular atrophy, distal, autosomal recessive, 2
  • neuropathy, distal hereditary motor, jerash type
amyotrophic lateral sclerosis 16, juvenile
  • amyotrophic lateral sclerosis type 16
juvenile amyotrophic lateral sclerosis
  • amyotrophic lateral sclerosis, juvenile
sigmar1-related amyotrophic lateral sclerosis
  • amyotrophic lateral sclerosis 16, juvenile
lateral sclerosis
  • adult-onset primary lateral sclerosis
- 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SIGMAR1

Genetic Association Database (GAD)
SIGMAR1
Human Genome Epidemiology (HuGE) Navigator
SIGMAR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SIGMAR1
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. (Eur. J. Biochem. 1999) 3 4 22 64
  2. Exon-intron structure, analysis of promoter region, and chromosomal localization of the human type 1 sigma receptor gene. (PMID: 9453537) Prasad P.D. … Ganapathy V. (J. Neurochem. 1998) 2 3 4 64
  3. Cloning and functional expression of the human type 1 sigma receptor (hSigmaR1). (PMID: 8954936) Kekuda R. … Ganapathy V. (Biochem. Biophys. Res. Commun. 1996) 2 3 4 64
  4. Crystal structure of the human sigma1 receptor. (PMID: 27042935) Schmidt H.R. … Kruse A.C. (Nature 2016) 3 4 64
  5. A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy. (PMID: 26078401) Li X. … Zhang R. (Neurology 2015) 3 4 64

Products for SIGMAR1 Gene

Sources for SIGMAR1 Gene

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