PCSK6
Proprotein Convertase Subtilisin/Kexin Type 6
Gene Information Card
| Symbol | PCSK6 |
|---|---|
| Full Name | Proprotein Convertase Subtilisin/Kexin Type 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q26.3 |
| NCBI Gene ID | 5046 ncbi.nlm.nih.gov/gene/5046 |
| Ensembl ID | ENSG00000140479 |
| UniProt ID | P29122 |
| OMIM ID | 167410 |
| HGNC ID | 8741 |
| Aliases | PACE4, SPC4, PC6 |
Description
PCSK6 encodes a member of the subtilisin-like proprotein convertase family, which processes latent precursor proteins into their biologically active products. This enzyme is involved in the proteolytic activation of various proproteins, including growth factors, hormones, and receptors, and plays a role in development, homeostasis, and disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoarthritis | PCSK6 variants may alter proteolytic processing of extracellular matrix proteins, contributing to joint degeneration. | ClinVar, NCBI |
| Cancer (various) | Dysregulated PCSK6 expression can affect processing of growth factors and matrix metalloproteinases, influencing tumor progression and metastasis. | COSMIC, NCBI |
| Cardiovascular disease | PCSK6 processes proprotein convertase substrates involved in lipid metabolism and vascular remodeling. | NCBI, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Brain | 5.2 | Low |
| Heart | 4.1 | Low |
| Lung | 6.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.1 | Hepatocellular carcinoma cell line |
| HEK 293 | 9.4 | Embryonic kidney cells |
| A549 | 7.2 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | <0.01% | Unknown functional effect |
| c.567_569del (p.Phe190del) | Deletion | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Deletions or nonsense mutations that truncate the catalytic domain are predicted to reduce or abolish proprotein convertase activity.
Gain of Function (GOF)
Missense mutations that enhance catalytic efficiency or alter substrate specificity may lead to gain-of-function effects.
Dominant Negative (DN)
Mutations that produce a non-functional enzyme capable of interfering with wild-type PCSK6 or related convertases.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity | • proprotein convertase activity |
| • proteolysis | • protein processing |
| • extracellular region | • Golgi apparatus |
Pathways
• Proprotein convertase processing
• Notch signaling
• TGF-beta signaling
• Extracellular matrix organization
Protein Summary
PCSK6 (PACE4) is a calcium-dependent serine protease that cleaves precursor proteins at paired basic amino acid residues. It is synthesized as a zymogen and undergoes autocatalytic processing to generate the active enzyme. The protein localizes to the Golgi apparatus and extracellular space, where it activates substrates such as pro-NGF, pro-BMP, and pro-MT1-MMP.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCSK6 Knockout HEK293 Cell Line | EDJ-KQ5395 | Human | 5046 | Details Get a Quote |
| PCSK6 Knockout A-549 Cell Line | EDJ-KQ28539 | Human | 5046 | Details Get a Quote |
| PCSK6 Knockout HCT 116 Cell Line | EDJ-KQ28540 | Human | 5046 | Details Get a Quote |
| PCSK6 Knockout HeLa Cell Line | EDJ-KQ28541 | Human | 5046 | Details Get a Quote |
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