LMPD Database


UniProt Annotations

Entry Information
Gene NameNiemann-Pick disease, type C1
Protein EntryNPC1_HUMAN
UniProt IDO15118
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=O15118-1; Sequence=Displayed; Name=2; IsoId=O15118-2; Sequence=VSP_056431, VSP_056432, VSP_056433; Note=No experimental confirmation available.;
DiseaseNiemann-Pick disease C1 (NPC1) [MIM
DomainA cysteine-rich N-terminal domain and a C-terminal domain containing a di-leucine motif necessary for lysosomal targeting are critical for mobilization of cholesterol from lysosomes.
FunctionIntracellular 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 nerve terminals. {ECO
PtmGlycosylated. {ECO
SimilarityBelongs to the patched family.
SimilarityContains 1 SSD (sterol-sensing) domain.
Subcellular LocationLate endosome membrane ; Multi-pass membrane protein . Lysosome membrane ; Multi-pass membrane protein .
SubunitInteracts with TMEM97. Interacts (via the second lumenal domain) with NPC2 in a cholestrol-dependent manner (By similarity).
Web ResourceName=Niemann-Pick type C disease gene variation database; URL="http://npc.fzk.de";