Scientific Name: Sus scrofa domestica
Taxonomy: Cellular organisms-> Eukaryota-> Opisthokonta-> Metazoa-> Eumetazoa-> Bilateria-> Deuterostomia-> Chordata-> Craniata-> Vertebrata-> Gnathostomata-> Teleostomi-> Euteleostomi-> Sarcopterygii-> Dipnotetrapodomorpha-> Tetrapoda-> Amniota-> Mammalia-> Theria-> Eutheria-> Boreoeutheria-> Laurasiatheria-> Artiodactyla-> Suina-> Suidae-> Sus-> Sus scrofa
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_0046 | 2021.04 | 10X Genomics | Lung | Normal | 21981 | Link |
Vthunter_0069 | 2021.04 | 10X Genomics | Frontal | Normal | 8812 | Link |
Vthunter_0070 | 2021.04 | 10X Genomics | Occipital | Normal | 6829 | Link |
Vthunter_0071 | 2021.04 | 10X Genomics | Parietal | Normal | 6162 | Link |
Vthunter_0072 | 2021.04 | 10X Genomics | Hypothalamus | Normal | 7302 | Link |
Vthunter_0073 | 2021.04 | 10X Genomics | Temporal | Normal | 3145 | Link |
Vthunter_0074 | 2021.04 | iDrop | Lung | Normal | 13580 | Link |
Vthunter_0074 | 2021.04 | iDrop | Lung | Normal | 13580 | Link |
Vthunter_0074 | 2021.04 | iDrop | Lung | Normal | 13580 | Link |
Vthunter_0074 | 2021.04 | iDrop | Lung | Normal | 13580 | Link |
Vthunter_0074 | 2021.04 | iDrop | Lung | Normal | 13580 | Link |
Vthunter_0074 | 2021.04 | iDrop | Lung | Normal | 13580 | Link |
Vthunter_0074 | 2021.04 | iDrop | Lung | Normal | 13580 | Link |
Vthunter_0074 | 2021.04 | iDrop | Lung | Normal | 13580 | Link |
Vthunter_0074 | 2021.04 | iDrop | Lung | Normal | 13580 | Link |
Vthunter_0074 | 2021.04 | iDrop | Lung | Normal | 13580 | Link |
Vthunter_1013 | 2019.12 | 10X Genomics | Lung | Normal | 7465 | Link |
Vthunter_1014 | 2019.12 | 10X Genomics | Lung | Normal | 3987 | Link |
Featureplot of receptors
Expression: Ubiquitous expression in adrenal (RPKM 13.9), brain (RPKM 10.0) and 24 other tissues?