Npc1 Gene Summary [Mouse]
Predicted to enable cholesterol binding activity. Involved in several processes, including cholesterol homeostasis; protein glycosylation; and symbiont entry into host cell. Acts upstream of or within several processes, including adult walking behavior; cholesterol efflux; and cyclodextrin metabolic process. Located in several cellular components, including lysosome; membrane raft; and nuclear envelope. Is expressed in several structures, including genitourinary system; liver; lung; spleen; and stomach. Used to study Niemann-Pick disease and Niemann-Pick disease type C1. Human ortholog(s) of this gene implicated in Niemann-Pick disease type C1. Orthologous to human NPC1 (NPC intracellular cholesterol transporter 1). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Retained Intron |
| Official Symbol | Npc1 |
| Official Name | NPC intracellular cholesterol transporter 1 [Source:MGI Symbol;Acc:MGI:1097712] |
| Ensembl ID | ENSMUSG00000024413 |
| Bio databases IDs | |
| Aliases | NPC intracellular cholesterol transporter 1 |
| Synonyms | A430089E03Rik, Cdig2, D18Ertd139e, D18Ertd723e, lcsd, nmf164, NPC, NPC intracellular cholesterol transporter 1, POGZ, SLC65A1, SLC66A1, spm |
| 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 Npc1 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
- signaling receptor activity
- leucine zipper domain
- protein binding
- lipid transporter
- Patched family
- cytoplasmic domain
- The Eukaryotic (Putative) Sterol Transporter (EST) Family
- lumenal domain
- Niemann-Pick C1 N terminus
- transmembrane domain
- Sterol-sensing domain of SREBP cleavage-activation
- Niemann-Pick C type protein family
- sterol sensing domain
- transmembrane receptor
- cysteine rich 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
- weight loss
- neoplasia
- non-insulin-dependent diabetes mellitus
- fibrosis
- heart failure
- cardiovascular disorder
- Niemann-Pick disease type C1
- coronary artery disease
- Niemann-Pick disease type C
- Niemann-Pick disease, type D
phenotypes
- decreased exploration in new environment
- preweaning lethality incomplete penetrance
- Purkinje cell degeneration
- abnormal CNS glial cell morphology
- abnormal Golgi apparatus morphology
- abnormal Purkinje cell dendrite morphology
- abnormal Purkinje cell morphology
- abnormal adenohypophysis morphology
- abnormal alveolar lamellar body morphology
- abnormal alveolar macrophage morphology
- abnormal astrocyte physiology
- abnormal cellular cholesterol metabolism
- abnormal ceramide level
- abnormal cerebellum anterior vermis morphology
- abnormal cerebellum posterior vermis morphology
- abnormal cerebral cortex morphology
- abnormal cholesterol homeostasis
- abnormal cholesterol level
- abnormal cornea morphology
- abnormal enzyme/coenzyme level
- abnormal exploration in a new environment
- abnormal female reproductive system morphology
- abnormal gait
- abnormal ganglioside level
- abnormal granulosa cell morphology
- abnormal hepatocyte morphology
- abnormal hippocampus CA3 region morphology
- abnormal lipid homeostasis
- abnormal lipid level
- abnormal liver morphology
- abnormal lung morphology
- abnormal lung vasculature morphology
- abnormal lysosome physiology
- abnormal macrophage morphology
- abnormal microglial cell activation
- abnormal microglial cell physiology
- abnormal mitochondrial crista morphology
- abnormal mitochondrial matrix morphology
- abnormal mitochondrial physiology
- abnormal mitochondrial shape
- abnormal mitochondrion morphology
- abnormal motor capabilities/coordination/movement
- abnormal myelination
- abnormal neocortex morphology
- abnormal neuron morphology
- abnormal object recognition memory
- abnormal olfactory bulb morphology
- abnormal olfactory epithelium morphology
- abnormal olfactory nerve morphology
- abnormal olfactory sensory neuron morphology
- abnormal olfactory system morphology
- abnormal ovarian follicle morphology
- abnormal ovarian secretion
- abnormal ovary morphology
- abnormal pain threshold
- abnormal phospholipid level
- abnormal plasma membrane sphingolipid content
- abnormal pons morphology
- abnormal primary cilium morphology
- abnormal respiratory system physiology
- abnormal response to novel object
- abnormal secondary ovarian follicle morphology
- abnormal sperm head morphology
- abnormal sperm physiology
- abnormal sphingolipid level
- abnormal sphingomyelin level
- abnormal surfactant composition
- abnormal trigeminal ganglion morphology
- abnormal type II pneumocyte morphology
- absent corpus luteum
- absent estrous cycle
- absent mature ovarian follicles
- absent sperm flagellum
- absent sperm head
- adenohypophysis hypoplasia
- anovulation
- arrest of spermatogenesis
- astrocytosis
- ataxia
- axonal spheroids
- corneal deposits
- decreased Purkinje cell number
- decreased abdominal fat pad weight
- decreased anxiety-related response
- decreased body size
- decreased body weight
- decreased brain cholesterol level
- decreased brain size
- decreased brain weight
- decreased circulating prolactin level
- decreased corpus callosum size
- decreased endometrial gland number
- decreased food intake
- decreased grip strength
- decreased lactotroph cell number
- decreased liver cholesterol level
- decreased ovary weight
- decreased prepulse inhibition
- decreased prolactin level
- demyelination
- endometrium atrophy
- enlarged alveolar lamellar bodies
- enlarged liver
- enlarged liver sinusoidal spaces
- enlarged spleen
- female infertility
- foam cell reticulosis
- hepatic steatosis
- hyperactivity
- hypoactivity
- hypoalgesia
- impaired binding of sperm to zona pellucida
- impaired coordination
- impaired fertilization
- impaired learning
- impaired olfaction
- increased brain cholesterol level
- increased ceramide level
- increased cholesterol level
- increased circulating cholesterol level
- increased circulating follicle stimulating hormone level
- increased circulating luteinizing hormone level
- increased grip strength
- increased liver cholesterol level
- increased liver weight
- increased lung weight
- increased macrophage cell number
- increased macrophage derived foam cell number
- increased microglial cell activation
- increased plasma membrane sphingolipid content
- increased startle reflex
- infertility
- lethality incomplete penetrance
- lipidosis
- male infertility
- microgliosis
- nasal inflammation
- neurodegeneration
- oligozoospermia
- pale liver
- premature death
- prenatal lethality incomplete penetrance
- pulmonary alveolar proteinosis
- reduced fertility
- seminiferous tubule degeneration
- slow postnatal weight gain
- small cerebellum
- small ovary
- sphingomyelinosis
- teratozoospermia
- thick pulmonary interalveolar septum
- thin endometrium
- thin myometrium
- thin uterus
- tremors
- uterus atrophy
- weight loss
role in cell
- growth
- cell death
- expression in
- accumulation in
- apoptosis
- cellular infiltration by
- necrosis
- proliferation
- phosphorylation in
- survival
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
- membrane fraction
- endoplasmic reticulum mitochondria contact site
- Extracellular Space
- cell periphery
- perinuclear region
- cellular membrane
- Plasma Membrane
- endosomes
- vesicles
- lysosome
- Golgi Apparatus
- Endoplasmic Reticulum
- granules
- trans Golgi network
- lysosome membrane
- endosomal membrane
- nuclear envelope
- late endosomes
- cytoplasmic vesicles
- endocytotic vesicle
- membrane rafts
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Npc1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- viral entry into host cell
- protein glycosylation
- cholesterol metabolic process
- neurogenesis
- response to xenobiotic stimulus
- cholesterol homeostasis
- bile acid metabolic process
- establishment of protein localization in membrane
- adult walking behavior
- cholesterol storage
- autophagy
- liver development
- intracellular cholesterol transport
- intracellular lipid transport
- cholesterol transport
- membrane raft organization
- macroautophagy
- lysosomal transport
- response to cadmium ion
- endocytosis
- cellular response to steroid hormone stimulus
- cyclodextrin metabolic process
- gene expression
- negative regulation of macroautophagy
- intestinal cholesterol absorption
- cholesterol efflux
- programmed cell death
- cellular response to low-density lipoprotein particle stimulus
Cellular Component
Where in the cell the gene product is active
- Golgi apparatus
- endoplasmic reticulum
- extracellular region
- plasma membrane
- lysosomal membrane
- lysosome
- nuclear envelope
- late endosome membrane
- perinuclear region of cytoplasm
- extracellular vesicular exosome
- membrane raft
- membrane
Molecular Function
What the gene product does at the molecular level
- transmembrane signaling receptor activity
- protein binding
- cholesterol binding
- lipid transporter activity
- signaling receptor activity
- viral receptor activity