HGNC ID: 20001
Target Abstract:
The preprotein convertase chymotrypsin (PCSK9) is a member of the proteinase K subfamily of the secreted Bacillus subtilis protease family. It undergoes intramolecular autocatalytic processing in the endoplasmic reticulum and is synthesized as a soluble zymogen.PCSK9 binds to the low-density lipoprotein (LDL) cholesterol receptor and induces degradation of the LDLR.PCSK9 variants can lower or raise circulating cholesterol. Other variants are associated with the very rare autosomal dominant familial hypercholesterolemia (HCHOLA3). Mutations enhance their protease activity, lowering LDLR levels and preventing cellular uptake of cholesterol.
PCSK9 Target Infomation Overview
- Target Symbol: PCSK9, proprotein convertase subtilisin/kexin type 9
- Gene Groups: Proprotein convertase subtilisin/kexin family
- Alias: NARC-1; FH3
- Previous Names: HCHOLA3
- Alias Names: hypercholesterolemia, autosomal dominant 3
PCSK9, proprotein convertase subtilisin/kexin type 9 Target Infomation by Species
- Human
- Mouse
- Rat
Human PCSK9 Target Information
- Target Symbol: PCSK9, proprotein convertase subtilisin/kexin type 9
- Alias:
- convertase subtilisin/kexin type 9 preproprotein
- FH3
- FHCL3
- HCHOLA3
- LDLCQ1
- NARC-1
- NARC1
- neural apoptosis regulated convertase 1
- neural apoptosis-regulated convertase 1
- PC9
- proprotein convertase 9
- subtilisin/kexin-like protease PC9
- NCBI_Gene: 255738
- UniProtKB: Q8NBP7
Human PCSK9 Predicted Functions
Enables several functions, including lipoprotein particle receptor binding activity; serine-type endopeptidase activity; and sodium channel inhibitor activity. Involved in several processes, including cholesterol homeostasis; low-density lipoprotein particle receptor catabolic process; and regulation of receptor-mediated endocytosis. Located in several cellular components, including Golgi apparatus; endosome; and perinuclear region of cytoplasm. Part of PCSK9-AnxA2 complex and PCSK9-LDLR complex. Implicated in familial hypercholesterolemia and hypobetalipoproteinemia.
Mouse Pcsk9 Target Information
- Target Symbol: Pcsk9, proprotein convertase subtilisin/kexin type 9
- Alias:
- AI415265
- AI747682
- expressed sequence AI415265
- expressed sequence AI747682
- Narc1
- NCBI_Gene: 100102
Mouse Pcsk9 Predicted Functions
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; cellular response to starvation; 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 several structures, including alimentary system; cerebellum; genitourinary system; liver; and telencephalon. Human ortholog(s) of this gene implicated in familial hypercholesterolemia and hypobetalipoproteinemia. Orthologous to human PCSK9 (proprotein convertase subtilisin/kexin type 9).
Rat Pcsk9 Target Information
- Target Symbol: Pcsk9, proprotein convertase subtilisin/kexin type 9
- Alias:
- NARC-1
- Narc1
- neural apoptosis regulated convertase 1
- neural apoptosis-regulated convertase 1
- PC9
- proprotein convertase 9
- proprotein convertase PC9
- subtilisin/kexin-like protease PC9
- NCBI_Gene: 298296
- UniProtKB: P59996
Rat Pcsk9 Predicted Functions
Predicted to enable several functions, including lipoprotein particle binding activity; lipoprotein particle receptor binding activity; and serine-type endopeptidase activity. Involved in several processes, including cellular response to insulin stimulus; cholesterol homeostasis; and protein autoprocessing. Located in extracellular space and rough endoplasmic reticulum. Human ortholog(s) of this gene implicated in familial hypercholesterolemia and hypobetalipoproteinemia. Orthologous to human PCSK9 (proprotein convertase subtilisin/kexin type 9).
