Niemann-Pick C1 protein (NPC1)

Function

• role in the intracellular trafficking of cholesterol
• may play a role in vesicular trafficking in glia, a process that may be crucial for maintaining the structural & functional integrity of nerve terminals

Structure

• glycosylated
• cysteine-rich N-terminal domain & a C-terminal domain containing di-leucine motif necessary for lysosomal targeting are critical for mobilization of cholesterol from lysosomes
• belongs to the patched family
• contains 1 SSD (sterol-sensing) domain
• has homology to resistance-nodulation-division (RND) family of prokaryotic permeases
• also has similarity to patched family of proteins

Compartment

• late endosome membrane; multi-pass membrane protein
• lysosome membrane; multi-pass membrane protein

Pathology

• mutations associated with Niemann-Pick disease type 2
  • Niemann-Pick disease type C1
  • Niemann-Pick disease type D

Laboratory

• NPC1 gene mutation

More general terms

• transmembrane 11 protein
• glycoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4864
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4864
• OMIM: https://mirror.omim.org/entry/257220
• OMIM: https://mirror.omim.org/entry/607623
• UniProt: http://www.uniprot.org/uniprot/O15118.html