Gene Gene information from NCBI Gene database.
Entrez ID 10280
Gene name Sigma non-opioid intracellular receptor 1
Gene symbol SIGMAR1
Synonyms (NCBI Gene)
ALS16DSMA2HMNR2OPRS1SIG-1RSR-BPSR-BP1SRBPhSigmaR1sigma1R
Chromosome 9
Chromosome location 9p13.3
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,
SNPs SNP information provided by dbSNP.
9
SNP ID Visualize variation Clinical significance Consequence
rs387906829 C>G,T Pathogenic Intron variant, synonymous variant, missense variant, coding sequence variant
rs747285235 G>- Pathogenic Non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs780136067 ->G Pathogenic Coding sequence variant, intron variant, frameshift variant
rs796065352 C>A Pathogenic Splice donor variant, intron variant
rs1270528470 C>A,T Likely-pathogenic Coding sequence variant, missense variant, intron variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
228
miRTarBase ID miRNA Experiments Reference
MIRT004655 hsa-miR-205-5p Luciferase reporter assay 20065103
MIRT005041 hsa-let-7b-5p pSILAC 18668040
MIRT005041 hsa-let-7b-5p Microarray 17699775
MIRT023810 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT025728 hsa-miR-7-5p Microarray 19073608
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
ATF4 Activation 22079628
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0004985 Function G protein-coupled opioid receptor activity IEA
GO:0005515 Function Protein binding IPI 29876881, 32814053
GO:0005634 Component Nucleus IEA
GO:0005635 Component Nuclear envelope IDA 9341151, 10406945
GO:0005635 Component Nuclear envelope IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601978 8157 ENSG00000147955
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99720
Protein name Sigma non-opioid intracellular receptor 1 (Aging-associated gene 8 protein) (SR31747-binding protein) (SR-BP) (Sigma 1-type opioid receptor) (SIG-1R) (Sigma1-receptor) (Sigma1R) (hSigmaR1)
Protein 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
PDB 5HK1 , 5HK2 , 6DJZ , 6DK0 , 6DK1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04622 ERG2_Sigma1R 12 217 ERG2 and Sigma1 receptor like protein Family
Tissue specificity 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). {ECO:000
Sequence
Sequence length 223
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
328
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Amyotrophic lateral sclerosis type 16 Pathogenic; Likely pathogenic rs1242817438, rs2132329744, rs1449250083, rs2132323906, rs780136067, rs2492828821, rs2492811707, rs755994483, rs387906829, rs1554707680, rs1554707622, rs140376902, rs1564096761, rs747285235, rs1820836522
View all (2 more)
RCV001378556
RCV001378960
RCV001942103
RCV002273264
RCV000191128
RCV003002598
RCV003799189
RCV003800917
RCV000023162
RCV000496171
RCV000496131
RCV000697805
RCV000690078
RCV000805664
RCV001095535
RCV001095534
RCV001880117
Autosomal recessive distal spinal muscular atrophy 2 Pathogenic; Likely pathogenic rs1242817438, rs2132329744, rs1449250083, rs796065352, rs780136067, rs2492828821, rs2492811707, rs755994483, rs387906829, rs1554707680, rs140376902, rs1564096761, rs1564096221, rs747285235, rs757260058
View all (1 more)
RCV001378556
RCV001378960
RCV001942103
RCV000190343
RCV000819808
RCV003002598
RCV003799189
RCV003800917
RCV001852015
RCV002527125
RCV000697805
RCV000690078
RCV000761539
RCV000805664
RCV001856288
RCV001880117
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Conflicting classifications of pathogenicity rs192644838 RCV005901684
Gastric cancer Conflicting classifications of pathogenicity rs192644838 RCV005901685
SIGMAR1-related disorder Likely benign rs144813067 RCV003963311
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Lung Injury Associate 37714499
Alzheimer Disease Associate 39800452
Amyotrophic Lateral Sclerosis Associate 22739338, 40097075
Amyotrophic Lateral Sclerosis 2 Juvenile Associate 30079398
Brain Damage Chronic Associate 25261976
Brain Diseases Associate 39800452
Breast Neoplasms Associate 33832505
Cerebral Infarction Associate 25261976
Charcot Marie Tooth disease X linked recessive 2 Associate 31167812
Clubfoot Associate 30079398