PCSK4
Proprotein Convertase Subtilisin/Kexin Type 4
Gene Information Card
| Symbol | PCSK4 |
|---|---|
| Full Name | proprotein convertase subtilisin/kexin type 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 54760 ncbi.nlm.nih.gov/gene/54760 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q6UW60 |
| OMIM ID | 600487 |
| HGNC ID | 8745 |
| Aliases | PC4, SPC5 |
Description
PCSK4 encodes a member of the subtilisin-like proprotein convertase family, which processes latent precursor proteins into their biologically active products. This protease is primarily expressed in reproductive tissues and is involved in fertilization and early embryonic development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | PCSK4 deficiency impairs sperm capacitation and acrosome reaction | OMIM 600487; mouse knockout models |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Placenta | 5.1 | Low |
| Ovary | 3.8 | Low |
| Prostate | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (testicular embryonal carcinoma) | 8.7 | Medium expression |
| HeLa (cervical adenocarcinoma) | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Loss of start codon; likely loss of function |
| c.1234C>T (p.Arg412Trp) | missense | Rare | Potential impact on catalytic activity |
Mutation functional classification
Loss of Function (LOF)
c.1A>G (p.Met1?) is predicted to abolish translation initiation, leading to loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity | • proprotein convertase activity |
| • proteolysis | • peptide hormone processing |
| • fertilization |
Pathways
• Proprotein convertase processing of proproteins
• Fertilization and sperm-egg fusion
Protein Summary
PCSK4 (PC4) is a calcium-dependent serine protease that cleaves proproteins at paired basic amino acid residues. It is essential for processing of pro-ADAM and other substrates involved in sperm-egg fusion. The protein is synthesized as a zymogen and undergoes autocatalytic activation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCSK4 Knockout HEK293 Cell Line | EDJ-KQ2965 | Human | 54760 | Details Get a Quote |
| PCSK4 Knockout HCT 116 Cell Line | EDJ-KQ18079 | Human | 54760 | Details Get a Quote |
| PCSK4 Knockout A-549 Cell Line | EDJ-KQ25496 | Human | 54760 | Details Get a Quote |
| PCSK4 Knockout HeLa Cell Line | EDJ-KQ25499 | Human | 54760 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
