Pcsk9 Gene Summary [Mouse]
Enables apolipoprotein binding activity; lipoprotein particle binding activity; and low-density lipoprotein particle receptor binding activity. Involved in several processes, including cellular response to insulin stimulus; liver development; and regulation of neuron apoptotic process. Acts upstream of or within several processes, including low-density lipoprotein receptor particle metabolic process; regulation of low-density lipoprotein particle receptor catabolic process; and triglyceride metabolic process. Located in COPII-coated ER to Golgi transport vesicle; endoplasmic reticulum; and extracellular space. Is expressed in alimentary system; brain; genitourinary system; liver; and skin. Human ortholog(s) of this gene implicated in familial hypercholesterolemia and hypobetalipoproteinemia. Orthologous to human PCSK9 (proprotein convertase subtilisin/kexin type 9). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Pcsk9 |
| Official Name | proprotein convertase subtilisin/kexin type 9 [Source:MGI Symbol;Acc:MGI:2140260] |
| Ensembl ID | ENSMUSG00000044254 |
| Bio databases IDs | |
| Aliases | proprotein convertase subtilisin/kexin type 9 |
| Synonyms | FH3, FHCL3, HCHOLA3, LDLCQ1, NARC-1, PC9, proprotein convertase subtilisin/kexin type 9 |
| 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 Pcsk9 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PCSK9 catalytic C-terminal domain
- catalytic domain
- Subtilase family
- peptidase
- receptor inhibitor
- low-density lipoprotein receptor binding
- low-density lipoprotein binding
- protein binding
- receptor binding
- PCSK9_C-CRD
- sodium channel inhibitor
- Peptidase domain in the S8 and S53 families
- serine endopeptidase
- binding protein
- Peptidase inhibitor I9
- hinge domain
- cysteine-histidine rich domain
- Proprotein convertase subtilisin-like/kexin type 9 C-terminal domain
- pro domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- cancer
- neoplasia
- homozygous familial hypercholesterolemia
- sporadic hypercholesterolemia
- hypercholesterolemia
- abdominal aortic aneurysm
- coronary artery disease
- heterozygous familial hypercholesterolemia
- mixed dyslipidemia
role in cell
- expression in
- formation
- accumulation in
- quantity
- proliferation
- apoptosis
- number
- response
- phosphorylation in
- degradation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- Cytoplasm
- cell surface
- perinuclear region
- Plasma Membrane
- lysosome
- Golgi Apparatus
- Endoplasmic Reticulum
- endoplasmic reticulum lumen
- lysosome membrane
- endosomal membrane
- early endosomes
- late endosomes
- transport vesicles
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Pcsk9 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cholesterol metabolic process
- triglyceride metabolic process
- neurogenesis
- lipoprotein metabolic process
- phospholipid metabolic process
- regulation of neuron apoptotic process
- cholesterol homeostasis
- positive regulation of neuron apoptotic process
- cellular response to insulin stimulus
- low-density lipoprotein particle receptor catabolic process
- negative regulation of receptor recycling
- kidney development
- liver development
- positive regulation of low-density lipoprotein particle receptor catabolic process
- apoptotic process
- negative regulation of sodium ion transmembrane transporter activity
- negative regulation of receptor internalization
- neuron differentiation
- positive regulation of receptor internalization
- lysosomal transport
- cellular response to starvation
- negative regulation of low-density lipoprotein particle clearance
- protein autoprocessing
- regulation of receptor activity
Cellular Component
Where in the cell the gene product is active
- endolysosome membrane
- late endosome
- endoplasmic reticulum
- Golgi apparatus
- extracellular region
- plasma membrane
- lysosomal membrane
- lysosome
- cell surface
- endoplasmic reticulum lumen
- early endosome
- extracellular space
- perinuclear region of cytoplasm
- cytoplasm
- ER to Golgi transport vesicle
- extrinsic to external side of plasma membrane
Molecular Function
What the gene product does at the molecular level
- apolipoprotein binding
- receptor inhibitor activity
- RNA binding
- low-density lipoprotein particle receptor binding
- protein binding
- very-low-density lipoprotein particle binding
- serine-type endopeptidase activity
- sodium channel inhibitor activity
- low-density lipoprotein particle binding
- very-low-density lipoprotein particle receptor binding
- apolipoprotein receptor binding