| Gene Information | |
|---|---|
| Gene Name | SWELL1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 810 |
| Protein Names | Volume-regulated anion channel subunit LRRC8A (Leucine-rich repeat-containing protein 8A) (HsLRRC8A) (Swelling protein 1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q8IWT6 |
| Gene Card | LRRC8A |
| Uniprot ID | Q8IWT6 |
| Pfam | PF13855; PF12534 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed in brain, kidney, ovary, lung, liver, heart, and fetal brain and liver. Found at high levels in bone marrow; lower levels are detected in peripheral blood cells. Expressed on T-cells as well as on B-lineage cells. {ECO:0000269|PubMed:10718198, ECO:0000269|PubMed:14660746}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);NULL(Rat);0.066667(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 5ZSU (EM 4.25A ) 6DJB (EM 4.40A ) |
| DBSNP | rs769167142 |
| Subcellular location [CC] | Cell membrane {ECO:0000269|PubMed:24725410, ECO:0000269|PubMed:24782309, ECO:0000269|PubMed:24790029, ECO:0000269|PubMed:26824658, ECO:0000305|PubMed:29769723}; Multi-pass membrane protein {ECO:0000269|PubMed:24725410, ECO:0000269|PubMed:24782309, ECO:0000269|PubMed:24790029, ECO:0000269|PubMed:30095067, ECO:0000269|PubMed:30127360}. Lysosome membrane {ECO:0000269|PubMed:33139539}; Multi-pass membrane protein {ECO:0000269|PubMed:24725410, ECO:0000269|PubMed:24782309, ECO:0000269|PubMed:24790029, ECO:0000269|PubMed:30095067, ECO:0000269|PubMed:30127360}. Note=Mainly localizes to the cell membrane, with some intracellular localization to lysosomes. {ECO:0000269|PubMed:33139539}. |
| Mouse PG classification | NA |
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