PCSK9
| Gene Symbol | PCSK9 |
|---|---|
| Entrez Gene | 255738 |
| Alt Symbol | FH3, HCHOLA3, LDLCQ1, NARC-1, NARC1, PC9 |
| Species | Human |
| Gene Type | protein-coding |
| Description | proprotein convertase subtilisin/kexin type 9 |
| Other Description | convertase subtilisin/kexin type 9 preproprotein|neural apoptosis regulated convertase 1|subtilisin/kexin-like protease PC9 |
| Swissprots | Q8NBP7 Q5PSM5 C0JYY9 Q5SZQ2 A8T640 |
| Accessions | AAV67948 ACN81318 CAC38896 CAC60361 CDI44158 CDM55545 CDM55691 EAX06660 Q8NBP7 AK075365 BAC11572 AK122717 AK124635 BAC85910 AK293870 BAG57260 AK297473 BAG59894 BC042095 BC166619 AAI66619 DA738424 EF692496 ABV59216 XM_011541193 XP_011539495 NM_174936 NP_777596 NR_110451 |
| Function | Crucial player in the regulation of plasma cholesterol homeostasis. Binds to low-density lipid receptor family members: low density lipoprotein receptor (LDLR), very low density lipoprotein receptor (VLDLR), apolipoprotein E receptor (LRP1/APOER) and apolipoprotein receptor 2 (LRP8/APOER2), and promotes their degradation in intracellular acidic compartments. Acts via a non-proteolytic mechanism to enhance the degradation of the hepatic LDLR through a clathrin LDLRAP1/ARH-mediated pathway. May prevent the recycling of LDLR from endosomes to the cell surface or direct it to lysosomes for degradation. Can induce ubiquitination of LDLR leading to its subsequent degradation. Inhibits intracellular degradation of APOB via the autophagosome/lysosome pathway in a LDLR-independent manner. Involved in the disposal of non-acetylated intermediates of BACE1 in the early secretory pathway. Inhibits epithelial Na(+) channel (ENaC)-mediated Na(+) absorption by reducing ENaC surface expression primaril |
| Subcellular Location | Cytoplasm. Secreted. Endosome. Lysosome. Cell surface. Endoplasmic reticulum. Golgi apparatus. Note=Autocatalytic cleavage is required to transport it from the endoplasmic reticulum to the Golgi apparatus and for the secretion of the mature protein. Localizes to the endoplasmic reticulum in the absence of LDLR and colocalizes to the cell surface and to the endosomes/lysosomes in the presence of LDLR. The sorting to the cell surface and endosomes is required in order to fully promote LDLR degradation. |
| Tissue Specificity | Expressed in neuro-epithelioma, colon carcinoma, hepatic and pancreatic cell lines, and in Schwann cells. |
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