PF4V1 (Platelet Factor 4 Variant 1)
Chemokine (C-X-C motif) ligand 4 variant 1; also known as CXCL4L1 or PF4alt
Gene Information Card
| Symbol | PF4V1 |
|---|---|
| Full Name | Platelet Factor 4 Variant 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q13.3 |
| NCBI Gene ID | 5197 ncbi.nlm.nih.gov/gene/5197 |
| Ensembl ID | ENSG00000138685 |
| UniProt ID | P10720 |
| OMIM ID | 173461 |
| HGNC ID | 8862 |
| Aliases | CXCL4L1, PF4alt, SCYB4V1 |
Description
PF4V1 (Platelet Factor 4 Variant 1) is a member of the CXC chemokine family. It is a variant of platelet factor 4 (PF4/CXCL4) with a single amino acid substitution (Leu instead of Pro at position 58). PF4V1 is expressed in platelets and megakaryocytes and functions as a potent inhibitor of angiogenesis and a modulator of immune responses. It binds to CXCR3B receptor and exhibits anti-tumor and anti-angiogenic properties.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Thrombosis | PF4V1 inhibits angiogenesis and may modulate thrombus formation via chemokine signaling | PMID: 14576052 |
| Cancer (angiogenesis-dependent) | PF4V1 suppresses tumor growth by inhibiting endothelial cell proliferation and migration | PMID: 17690171 |
| Inflammatory disorders | PF4V1 modulates leukocyte recruitment and inflammation via CXCR3B binding | PMID: 19864675 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 0.0 | Not detected |
| Platelets | 0.0 | Not detected (nTPM not applicable; protein detected by ELISA) |
| Lung | 0.0 | Not detected |
| Spleen | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Megakaryocytes | N/A | PF4V1 is specifically expressed in megakaryocytes and platelets |
| HEK293 | N/A | Used for recombinant expression studies |
| HUVEC | N/A | PF4V1 inhibits endothelial cell proliferation in vitro |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.173C>T (p.Pro58Leu) | Missense | 100% (variant defining PF4V1 vs PF4) | Alters chemokine activity; enhances anti-angiogenic potency |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations reported in PF4V1.
Gain of Function (GOF)
The Pro58Leu substitution confers enhanced anti-angiogenic activity compared to PF4.
Dominant Negative (DN)
No dominant-negative effects described.
View complete mutation data：
Gene Ontology (GO)
| • chemokine activity (GO:0008009) | • immune response (GO:0006955) |
| • angiogenesis (GO:0001525) | • lymphocyte chemotaxis (GO:0048247) |
| • extracellular region (GO:0005576) |
Pathways
• Chemokine signaling pathway (KEGG: hsa04062)
• CXCR3-mediated signaling (Reactome: R-HSA-380108)
Protein Summary
PF4V1 is a 104-amino acid chemokine (C-X-C motif) ligand 4 variant 1, also known as CXCL4L1. It differs from PF4/CXCL4 by a single amino acid (Pro58Leu). PF4V1 is stored in platelet alpha-granules and released upon platelet activation. It binds to CXCR3B with high affinity and exerts potent anti-angiogenic effects by inhibiting endothelial cell proliferation, migration, and tube formation. PF4V1 also modulates immune responses and has been studied for its potential in cancer therapy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PF4V1 Knockout HEK293 Cell Line | EDJ-KQ5441 | Human | 5197 | Details Get a Quote |
| PF4V1 Knockout HeLa Cell Line | EDJ-KQ54120 | Human | 5197 | Details Get a Quote |
| PF4V1 Knockout A-549 Cell Line | EDJ-KQ62608 | Human | 5197 | Details Get a Quote |
| PF4V1 Knockout HCT 116 Cell Line | EDJ-KQ71082 | Human | 5197 | Details Get a Quote |
