NPC1L1 Gene Summary [Human]
The protein encoded by this gene is a multi-pass membrane protein. It contains a conserved N-terminal Niemann-Pick C1 (NPC1) domain and a putative sterol-sensing domain (SSD) which includes a YQRL motif functioning as a plasma membrane to trans-Golgi network transport signal in other proteins. This protein takes up free cholesterol into cells through vesicular endocytosis and plays a critical role in the absorption of intestinal cholesterol. It also has the ability to transport alpha-tocopherol (vitamin E). The drug ezetimibe targets this protein and inhibits the absorption of intestinal cholesterol and alpha-tocopherol. In addition, this protein may play a critical role in regulating lipid metabolism. Polymorphic variations in this gene are associated with plasma total cholesterol and low-density lipoprotein cholesterol (LDL-C) levels and coronary heart disease (CHD) risk. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | NPC1L1 |
| Official Name | NPC1 like intracellular cholesterol transporter 1 [Source:HGNC Symbol;Acc:HGNC:7898] |
| Ensembl ID | ENSG00000015520 |
| Bio databases IDs | |
| Aliases | NPC1 like intracellular cholesterol transporter 1 |
| Synonyms | 9130221N23, 9130221N23Rik, Gm243, LDLCQ7, NPC11L1, NPC1 like intracellular cholesterol transporter 1, SLC65A2, SLC66A2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NPC1L1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- cholesterol binding
- tocopherol binding
- enzyme binding
- protein binding
- myosin binding
- binding protein
- Patched family
- Niemann-Pick C1 N terminus
- protein homodimerization
- Sterol-sensing domain of SREBP cleavage-activation
- Niemann-Pick C type protein family
- sterol sensing domain
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hepatocellular carcinoma
- liver cancer
- non-insulin-dependent diabetes mellitus
- hepatic steatosis
- dyslipidemia
- hypertension
- nonalcoholic fatty liver disease
- hypertriglyceridemia
- metabolic syndrome X
- epithelial cancer
role in cell
- binding
- internalization by
- movement
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intracellular compartment
- intracellular space
- apical compartment
- perinuclear region
- cellular membrane
- Plasma Membrane
- endosomes
- vesicles
- vesicle membrane
- apical membrane
- lysosomal compartment
- recycling endosomes
- brush border
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NPC1L1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- vitamin E metabolic process
- cellular response to sterol depletion
- cholesterol biosynthetic process
- intestinal cholesterol absorption
- lipoprotein metabolic process
- cholesterol transport
- vitamin transport
- cholesterol homeostasis
Cellular Component
Where in the cell the gene product is active
- cytoplasmic vesicle membrane
- apical plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein homodimerization activity
- cholesterol binding
- small GTPase binding
- vitamin E binding
- myosin V binding