Scientific Name: Danio rerio
Taxonomy: Cellular organisms-> Eukaryota-> Opisthokonta-> Metazoa-> Eumetazoa-> Bilateria-> Deuterostomia-> Chordata-> Craniata-> Vertebrata-> Gnathostomata-> Teleostomi-> Euteleostomi-> Actinopterygii-> Actinopteri-> Neopterygii-> Teleostei-> Osteoglossocephalai-> Clupeocephala-> Otomorpha-> Ostariophysi-> Otophysi-> Cypriniphysae-> Cypriniformes-> Cyprinoidei-> Danionidae-> Danioninae-> Danio
Summary: This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009] [NCBI] [Proteinatlas]
Data set information
| Project | Date | Technology | Tissue | Condition | Cell | PMID/DOI |
|---|---|---|---|---|---|---|
| Vthunter_1003 | 2017.09 | Smart-seq2 | KidneyMarrow | Normal | 245 | Link |
| Vthunter_1020 | 2018.11 | Smart-seq2 | Gut | Normal | 252 | Link |
| Vthunter_110071 | 2019.12 | MARS-seq | TotalBrain | Normal | 1920 | Link |
Featureplot of receptors
Expression: Ubiquitous expression in adrenal (RPKM 13.9), brain (RPKM 10.0) and 24 other tissues?
