| Gene Information | |
|---|---|
| Gene Name | SRBP |
| Organism | Homo sapiens (Human) |
| Gene Length | 223 |
| Protein Names | 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) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q99720 |
| Gene Card | SIGMAR1 |
| Uniprot ID | Q99720 |
| Pfam | PF04622 |
| In ASD | yes |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| 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:0000269|PubMed:11687279, ECO:0000269|PubMed:23314020, ECO:0000269|PubMed:8954936, ECO:0000269|PubMed:9341151}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.005108(Rat);0.063158(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 5HK1 (X-ray 2.51A ) 5HK2 (X-ray 3.20A ) 6DJZ (X-ray 3.08A ) 6DK0 (X-ray 2.90A ) 6DK1 (X-ray 3.12A ) |
| DBSNP | rs1800866 rs140376902 rs387906829 rs192644838 |
| Subcellular location [CC] | Nucleus inner membrane {ECO:0000269|PubMed:10406945}. Nucleus outer membrane {ECO:0000269|PubMed:10406945}. Nucleus envelope {ECO:0000269|PubMed:11476895, ECO:0000269|PubMed:9341151}. Cytoplasmic vesicle {ECO:0000269|PubMed:10406945}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:10406945}. Membrane {ECO:0000269|PubMed:11476895, ECO:0000269|PubMed:27042935, ECO:0000269|PubMed:9341151}; Single-pass membrane protein {ECO:0000269|PubMed:27042935}. Lipid droplet {ECO:0000250|UniProtKB:O55242}. Cell junction. Cell membrane {ECO:0000269|PubMed:23314020}. Cell projection, growth cone. Postsynaptic density membrane {ECO:0000269|PubMed:23314020}. 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}. |
| Mouse PG classification | NA |
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