Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10280
Gene name Gene Name - the full gene name approved by the HGNC.
Sigma non-opioid intracellular receptor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SIGMAR1
Synonyms (NCBI Gene) Gene synonyms aliases
ALS16, DSMA2, HMNR2, OPRS1, SIG-1R, SR-BP, SR-BP1, SRBP, hSigmaR1, sigma1R
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ALS16, HMNR2
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p13.3
Summary Summary of gene provided in NCBI Entrez 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,
SNPs SNP information provided by dbSNP.
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.
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 factor Regulation Reference
ATF4 Activation 22079628
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004985 Function Opioid receptor activity IEA
GO:0005515 Function Protein binding IPI 23637801, 29876881
GO:0005635 Component Nuclear envelope IDA 9341151, 10406945
GO:0005637 Component Nuclear inner membrane IEA
GO:0005640 Component Nuclear outer membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601978 8157 ENSG00000147955
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis, Amyotrophic Lateral Sclerosis, Guam Form, AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE, Juvenile amyotrophic lateral sclerosis rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733
View all (171 more)
24885036, 21842496, 27821430, 26078401, 26633545, 24085347
Distal hereditary motor neuronopathy Distal hereditary motor neuropathy, Jerash type rs104894345, rs104894351, rs137852970, rs137852972, rs267607143, rs267607145, rs28939680, rs29001571, rs28937568, rs28937569, rs104894020, rs121909112, rs121909113, rs121909342, rs786205090
View all (57 more)
Frontotemporal dementia Frontotemporal Lobar Degeneration rs63751273, rs63750376, rs63750424, rs63750972, rs1568327531, rs63750570, rs63750756, rs63751165, rs63750512, rs63751438, rs63750912, rs63750711, rs63750635, rs63750349, rs63750092
View all (31 more)
24885036
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
15298647, 21549171, 19439245, 14567761
Unknown
Disease term Disease name Evidence References Source
Distal amyotrophy Distal amyotrophy ClinVar
Amyotrophic Lateral Sclerosis amyotrophic lateral sclerosis type 16, juvenile amyotrophic lateral sclerosis GenCC
Distal Spinal Muscular Atrophy autosomal recessive distal spinal muscular atrophy 2 GenCC
Associations from Text Mining
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