FEATURES

FAMILY

DESCRIPTION

Also known as NPC1_HUMAN, NPC1. Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment (PubMed:9211849, PubMed:9927649, PubMed:10821832, PubMed:18772377, PubMed:27238017, PubMed:12554680). 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 (PubMed:9211849, PubMed:9927649, PubMed:18772377, PubMed:19563754, PubMed:27238017, PubMed:28784760). Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket (PubMed:19563754). 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)., (Microbial infection) Acts as an endosomal entry receptor for ebolavirus. Interacts (via the second lumenal domain) with NPC2 (PubMed:18772377, PubMed:27238017, PubMed:27551080). Interacts with TMEM97 (PubMed:19583955). Interacts with TIM1 (PubMed:25855742).

EXTERNAL LINKS

NPC1

Mutations

Mutation(s) distribution

Mutations table