PCSK7
Proprotein Convertase Subtilisin/Kexin Type 7
Gene Information Card
| Symbol | PCSK7 |
|---|---|
| Full Name | Proprotein Convertase Subtilisin/Kexin Type 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q23.3 |
| NCBI Gene ID | 9159 ncbi.nlm.nih.gov/gene/9159 |
| Ensembl ID | ENSG00000169679 |
| UniProt ID | Q16549 |
| OMIM ID | 604872 |
| HGNC ID | 8747 |
| Aliases | PC7, LPC, PC8, SPC7 |
Description
PCSK7 encodes a member of the subtilisin-like proprotein convertase family, which processes latent precursor proteins into their biologically active products. This calcium-dependent serine endoprotease cleaves proproteins at paired basic amino acid residues. PCSK7 is involved in lipid metabolism, iron homeostasis, and viral infectivity, particularly hepatitis C virus entry. It is widely expressed in liver, intestine, and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatitis C virus infection | PCSK7 facilitates HCV entry by processing viral envelope glycoproteins | ClinVar, NCBI |
| Hypertriglyceridemia | Variants in PCSK7 are associated with elevated triglyceride levels | ClinVar, OMIM |
| Iron overload / Hemochromatosis | PCSK7 modulates hepcidin processing and iron homeostasis | NCBI, OMIM |
| Non-alcoholic fatty liver disease (NAFLD) | PCSK7 polymorphisms linked to hepatic steatosis and fibrosis | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 22.5 | High |
| Kidney | 18.3 | High |
| Small intestine | 15.7 | Medium |
| Pancreas | 12.1 | Medium |
| Spleen | 8.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 25.0 | Hepatocellular carcinoma cell line |
| Caco-2 | 20.3 | Colorectal adenocarcinoma cell line |
| HEK293 | 14.5 | Embryonic kidney cell line |
| Huh7 | 22.8 | Hepatoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs236918 (c.1480G>A, p.Gly494Ser) | missense | 0.5% in European populations | Associated with increased triglycerides and iron markers |
| rs508487 (c.2117C>T, p.Thr706Met) | missense | 1.2% in East Asian populations | Reduced catalytic activity in vitro |
| rs142513484 (c.1A>G, p.Met1?) | start loss | <0.1% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
rs142513484 (start loss) and rs508487 (reduced activity) are loss-of-function variants.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in PCSK7.
Dominant Negative (DN)
No dominant-negative mutations described for PCSK7.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Proprotein convertase processing (Reactome: R-HSA-5694530)
• Lipoprotein metabolism (Reactome: R-HSA-174824)
• Iron uptake and transport (Reactome: R-HSA-917937)
Protein Summary
PCSK7 (PC7) is a 785-amino-acid calcium-dependent serine protease localized primarily in the Golgi apparatus and on the cell surface. It cleaves proproteins at paired basic residues (e.g., RXXR). Key substrates include prohepcidin, proalbumin, and viral envelope glycoproteins. PCSK7 plays roles in lipid metabolism, iron regulation, and hepatitis C virus entry. Its expression is highest in liver, kidney, and intestine.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCSK7 Knockout HEK293 Cell Line | EDJ-KQ6483 | Human | 9159 | Details Get a Quote |
| PCSK7 Knockout A-549 Cell Line | EDJ-KQ30597 | Human | 9159 | Details Get a Quote |
| PCSK7 Knockout HCT 116 Cell Line | EDJ-KQ30598 | Human | 9159 | Details Get a Quote |
| PCSK7 Knockout HeLa Cell Line | EDJ-KQ30599 | Human | 9159 | Details Get a Quote |
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