PCSK5
Proprotein Convertase Subtilisin/Kexin Type 5
Gene Information Card
| Symbol | PCSK5 |
|---|---|
| Full Name | Proprotein Convertase Subtilisin/Kexin Type 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q21.13 |
| NCBI Gene ID | 5125 ncbi.nlm.nih.gov/gene/5125 |
| Ensembl ID | ENSG00000107175 |
| UniProt ID | Q92824 |
| OMIM ID | 600488 |
| HGNC ID | 8747 |
| Aliases | PC5, PC6, SPC6, LPC, PC5/6 |
Description
PCSK5 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. It is involved in the maturation of hormones, growth factors, and receptors, and plays roles in development, homeostasis, and disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ovarian Cancer | Altered PCSK5 expression may affect processing of growth factors and matrix metalloproteinases, influencing tumor progression. | ClinVar, COSMIC |
| Colorectal Cancer | PCSK5 mutations and expression changes reported; potential role in processing of proprotein substrates involved in cell adhesion and invasion. | COSMIC, NCBI |
| Cardiovascular Disease | PCSK5 processes pro-B-type natriuretic peptide (proBNP) and other cardiovascular peptides; variants may affect peptide maturation. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adrenal Gland | 12.5 | Medium |
| Small Intestine | 8.3 | Medium |
| Kidney | 6.7 | Medium |
| Liver | 4.2 | Low |
| Heart | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 9.8 | Medium expression |
| HepG2 | 5.4 | Low expression |
| MCF7 | 7.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Unknown functional impact; rare variant |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Predicted loss of function; truncation |
| c.890A>G (p.Asn297Ser) | Missense | <0.01% | Likely benign |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to premature stop codons or truncated protein.
Gain of Function (GOF)
Not well documented; no confirmed gain-of-function variants reported.
Dominant Negative (DN)
Not established for PCSK5.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity | • calcium ion binding |
| • proprotein convertase activity | • proteolysis |
| • protein processing | • extracellular space |
Pathways
• Proprotein convertase processing of hormones and growth factors
• Regulation of peptide hormone maturation
• Notch signaling pathway (via processing of Notch receptors)
Protein Summary
PCSK5 (PC5/6) is a calcium-dependent serine protease that cleaves proproteins at paired basic residues. It is synthesized as a zymogen and undergoes autocatalytic processing. The protein contains a signal peptide, prodomain, catalytic domain, P domain, and a C-terminal domain that may mediate membrane association. It is widely expressed and processes diverse substrates including proBNP, prorenin, and various growth factors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCSK5 Knockout HEK293 Cell Line | EDJ-KQ5419 | Human | 5125 | Details Get a Quote |
| PCSK5 Knockout A-549 Cell Line | EDJ-KQ28584 | Human | 5125 | Details Get a Quote |
| PCSK5 Knockout HCT 116 Cell Line | EDJ-KQ28585 | Human | 5125 | Details Get a Quote |
| PCSK5 Knockout HeLa Cell Line | EDJ-KQ54095 | Human | 5125 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
