InnateDB Protein
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IDBP-587606.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SIGMAR1
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Protein Name
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sigma non-opioid intracellular receptor 1
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Synonyms
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ALS16; hSigmaR1; OPRS1; SIG-1R; sigma1R; SR-BP; SR-BP1; SRBP;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000434453
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InnateDB Gene
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IDBG-60346 (SIGMAR1)
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Protein Structure
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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. {ECO:0000269PubMed:16472803, ECO:0000269PubMed:9341151}.
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Subcellular Localization |
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 and galactosylceramide-enriched domains of the endoplasmic reticulum. Enriched at cell-cell communication regions, growth cone and postsynaptic structures. Localization is modulated by ligand- binding.
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Disease Associations |
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:0000269PubMed:21842496}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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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. {ECO:0000269PubMed:11687279, ECO:0000269PubMed:8954936, ECO:0000269PubMed:9341151}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
8
[view]
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Protein-Protein |
6
[view]
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Protein-DNA |
2
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR006716
ERG2/sigma1 receptor-like
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PFAM |
PF04622
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q99720
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PhosphoSite |
PhosphoSite-Q99720
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
10280
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UniGene |
Hs.522087
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RefSeq |
NP_001269138
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HUGO |
HGNC:8157
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OMIM |
601978
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CCDS |
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HPRD |
03580
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IMGT |
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EMBL |
AF001976
AF001977
AF226604
AK098451
AK222899
AL450283
AY633611
BC004899
BC007839
CH471071
CR457075
DQ644568
DQ647702
DQ656583
U75283
U79528
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GenPept |
AAB50402
AAB51238
AAC04507
AAF64280
AAH04899
AAH07839
AAV33304
ABG29111
ABG36559
ABG46369
BAC05307
BAD96619
CAG33356
CAI14185
EAW58431
EAW58434
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