NPC1L1

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NPC1L1
Properties of human protein
Mass / length primary structure 1338 amino acids
Secondary to quaternary structure Multipass membrane protein (13 TMS)
Isoforms 3
Identifier
Gene name NPC1L1
External IDs
Transporter classification
TCDB 2.A.6.6.6
designation RND super family
Occurrence
Homology family Niemann-Pick C-Type
Parent taxon Euteleostomi

NPC1L1 (from: Niemann-Pick C1-like protein 1 ) is the protein in the cell membrane that facilitates the transport of cholesterol , phytosterols and other lipids into the cell. It is a transporter , although the way of importing it has not yet been fully clarified. NPC1L1 is formed in mammals in many tissue types, in humans mainly in the liver and in the small intestine - enterocytes (where it is mainly responsible for cholesterol absorption from food), but also in the pancreas , kidneys , lungs , spleen , heart , gall bladder , and brain , Testicles , stomach and muscles .

NPC1L1 is the target of the drug ezetimibe and is completely inactivated by it. Mutations in NPC1L1 - gene are thought to be responsible for resistance to ezetimibe.

Individual evidence

  1. a b UniProt Q9UHC9
  2. D'Eustachio / Jassal / reactome.org: NPC1L1-mediated cholesterol uptake  ( page no longer available , search in web archivesInfo: The link was automatically marked as defective. Please check the link according to the instructions and then remove this notice.@1@ 2Template: dead link / reactome.org  
  3. D'Eustachio / Jassal / reactome.org: NPC1L1-mediated phytosterol uptake  ( page no longer available , search in web archivesInfo: The link was automatically marked as defective. Please check the link according to the instructions and then remove this notice.@1@ 2Template: dead link / reactome.org  
  4. D'Eustachio / Jassal / reactome.org: NPC1L1 inactivation by ezetimibe  ( page no longer available , search in web archivesInfo: The link was automatically marked as defective. Please check the link according to the instructions and then remove this notice.@1@ 2Template: dead link / reactome.org