| Gene Symbol |
NPC1
|
| Entrez Gene |
4864
|
| Alt Symbol |
NPC
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
Niemann-Pick disease, type C1
|
| Other Description |
Niemann-Pick C1 protein
|
| Swissprots |
O15118 Q9P130 B4DET3
|
| Accessions |
AAD48006 AAK25791 EAX01158 O15118 AB209048 BAD92285 AB971140 BAQ08368 AF002020 AAB63982 AI242474 AK293779 BAG57194 AK295715 BAG58559 AK308491 BC063302 AAH63302 BP217319 CA438246 DR159421 XM_005258277 XP_005258334 XM_005258278 XP_005258335 XM_005258279 XP_005258336 XM_006722479 XP_006722542 XM_011526015 XP_011524317 NM_000271 NP_000262
|
| 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. Both NPC1 and NPC2 function as the cellular 'tag team duo' (TTD) to catalyze the mobilization of cholesterol within the multivesicular environment of the late endosome (LE) to effect egress through the limiting bilayer of the LE. NPC2 binds unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes and transfers it to the cholesterol-binding pocket of the N-terminal domain of NPC1. Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket and is exported from the limiting membrane of late endosomes/ lysosomes to the ER and plasma membrane by an unknown mechanism. 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 ne
|
| Subcellular Location |
Late endosome membrane {ECO:0000269|PubMed:17897319}; Multi-pass membrane protein {ECO:0000269|PubMed:17897319}. Lysosome membrane {ECO:0000269|PubMed:17897319}; Multi-pass membrane protein {ECO:0000269|PubMed:17897319}.
|
| Top Pathways |
Lysosome
|