Npc1l1 Gene Summary [Mouse]
Predicted to enable several functions, including cholesterol binding activity; myosin V binding activity; and protein homodimerization activity. Involved in cholesterol transport and intestinal cholesterol absorption. Acts upstream of or within cholesterol homeostasis. Predicted to be located in apical plasma membrane and brush border membrane. Predicted to be active in plasma membrane. Orthologous to human NPC1L1 (NPC1 like intracellular cholesterol transporter 1). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Npc1l1 |
| Official Name | NPC1 like intracellular cholesterol transporter 1 [Source:MGI Symbol;Acc:MGI:2685089] |
| Ensembl ID | ENSMUSG00000020447 |
| 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 | Mouse, Mus musculus |
| 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 mouse 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 mouse 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