Scientific Name: Manis javanica
Taxonomy: Cellular organisms-> Eukaryota-> Opisthokonta-> Metazoa-> Eumetazoa-> Bilateria-> Deuterostomia-> Chordata-> Craniata-> Vertebrata-> Gnathostomata-> Teleostomi-> Euteleostomi-> Sarcopterygii-> Dipnotetrapodomorpha-> Tetrapoda-> Amniota-> Mammalia-> Theria-> Eutheria-> Boreoeutheria-> Laurasiatheria-> Pholidota-> Manidae-> Manis
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_0035 | 2021.04 | 10X Genomics | Duodenum | Normal | 1482 | Link |
| Vthunter_0036 | 2021.04 | 10X Genomics | Esophagus | Normal | 24581 | Link |
| Vthunter_0037 | 2021.04 | 10X Genomics | Heart | Normal | 12958 | Link |
| Vthunter_0038 | 2021.04 | 10X Genomics | Kidney | Normal | 4481 | Link |
| Vthunter_0039 | 2021.04 | 10X Genomics | LargeIntestine | Normal | 3328 | Link |
| Vthunter_0040 | 2021.04 | 10X Genomics | Liver | Normal | 5694 | Link |
| Vthunter_0041 | 2021.04 | 10X Genomics | Lung | Normal | 13720 | Link |
| Vthunter_0042 | 2021.04 | 10X Genomics | Spleen | Normal | 3207 | Link |
| Vthunter_0043 | 2021.04 | 10X Genomics | Stomach | Normal | 12485 | Link |
Featureplot of receptors
Expression: Ubiquitous expression in adrenal (RPKM 13.9), brain (RPKM 10.0) and 24 other tissues?
