NPC1 — NPC intracellular cholesterol transporter 1
NPC1 belongs to a gene co-expression module in 4 of 28 SCUBA cell types. Each module groups genes that rise and fall together in that cell type; the genes it shares a module with are its closest co-expression partners there.
NPC1's module in each cell type
| Cell type | Module | Shares the module with | |
|---|---|---|---|
| CD4⁺ T cells | TCR Activation Signaling TCR/AP1/NFKb pathway | AKNA, ATP6V1A, BCL2L11, KIF20B, LAX1, NAA50, NEDD9, PRKAR1A +6 more | View in SCUBA |
| Endothelial | Inflammatory Lipid Metabolism Metabolite transfer | ACSL4, APOL1, CDK2AP2, COPS8, GBE1, GOLM1, MAPRE1, PDLIM7 +5 more | View in SCUBA |
| Lymphatic endothelial | TBK1-JAK Immune Signaling Inflammation | ADAM17, AGO2, ELL2, FNIP2, IQGAP1, JAK1, MAP4K4, NAMPT +6 more | View in SCUBA |
| Macrophages | Hypoxia-driven Activation Inflammatory | ACVR1B, ADAM10, ADAM9, ALCAM, ANO6, B3GNT2, BTG1, C5AR1 +33 more | View in SCUBA |
About the gene
| Synonyms | SLC65A1 |
|---|---|
| Chromosome | 18: 23506184-23586506 |
| Predicted location | Membrane |
| Essential gene | No |
| Protein class | Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters |
| Molecular function | Host cell receptor for virus entry, Receptor |
| Biological process | Cholesterol metabolism, Host-virus interaction, Lipid metabolism, Lipid transport, Steroid metabolism, Sterol metabolism, Transport |
Function
Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment. Unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes is transferred by NPC2 to the cholesterol-binding pocket in the N-terminal domain of NPC1. Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket. Binds oxysterol with higher affinity than cholesterol. May play a role in vesicular trafficking in glia, a process that may be crucial for maintaining the structural and functional integrity of nerve terminals (Probable). Inhibits cholesterol-mediated mTORC1 activation throught its interaction with SLC38A9. (Microbial infection) Acts as an endosomal entry receptor for ebolavirus.
Human Protein Atlas · Open Targets · UniProt
Gene annotation from the Human Protein Atlas and UniProt; see sources & licences.