PF4V1 (platelet factor 4 variant 1)

Gene

• Entrez ID: 5197
• Gene name: Platelet factor 4 variant 1
• Gene symbol: PF4V1
• Synonyms (NCBI Gene): CXCL4L1, CXCL4V1, PF4-ALT, PF4A, SCYB4V1
• Chromosome: 4
• Chromosome location: 4q13.3
• Summary: The protein encoded by this gene is a chemokine that is highly similar to platelet factor 4. The encoded protein displays a strong antiangiogenic function and is regulated by chemokine (C-X-C motif) receptor 3. This protein also impairs tumor growth and c

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2392423	hsa-miR-1278	CLIP-seq
MIRT2392424	hsa-miR-217	CLIP-seq
MIRT2392425	hsa-miR-3646	CLIP-seq
MIRT2392426	hsa-miR-4418	CLIP-seq
MIRT2392427	hsa-miR-509-3-5p	CLIP-seq
MIRT2392428	hsa-miR-509-5p	CLIP-seq
MIRT2392429	hsa-miR-548k	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005125	Function	Cytokine activity	IEA
GO:0005515	Function	Protein binding	IPI	28381538
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0006935	Process	Chemotaxis	IEA
GO:0006952	Process	Defense response	IEA
GO:0006954	Process	Inflammatory response	IBA
GO:0006955	Process	Immune response	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0008009	Function	Chemokine activity	IBA
GO:0008009	Function	Chemokine activity	IEA
GO:0008201	Function	Heparin binding	IEA
GO:0030593	Process	Neutrophil chemotaxis	IBA
GO:0045236	Function	CXCR chemokine receptor binding	IBA
GO:0061844	Process	Antimicrobial humoral immune response mediated by antimicrobial peptide	IBA
GO:0071222	Process	Cellular response to lipopolysaccharide	IBA

Other IDs

• MIM: 173461
• HGNC: 8862
• e!Ensembl: ENSG00000109272

Protein

• UniProt ID: P10720
• Protein name: Platelet factor 4 variant (C-X-C motif chemokine 4 variant) (CXCL4L1) (PF4alt) (PF4var1) [Cleaved into: Platelet factor 4 variant(4-74); Platelet factor 4 variant(5-74); Platelet factor 4 variant(6-74)]
• Protein function: Inhibitor of angiogenesis. Inhibitor of endothelial cell chemotaxis (in vitro).
• PDB: 4HSV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00048	IL8	42 → 100	Small cytokines (intecrine/chemokine), interleukin-8 like	Domain

• Sequence:

  MSSAARSRLTRATRQEMLFLALLLLPVVVAFARAEAEEDGDLQCLCVKTTSQVRPRHITS
  LEVIKAGPHCPTAQLIATLKNGRKICLDLQALLYKKIIKEHLES

• Sequence length: 104

Pathways

KEGG:

Cytokine-cytokine receptor interaction
Viral protein interaction with cytokine and cytokine receptor
Chemokine signaling pathway

Reactome:

Common Pathway of Fibrin Clot Formation
Cell surface interactions at the vascular wall

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
IGA GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Arthritis Juvenile	Associate	39699225	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Associate	30721642	★☆☆☆☆ Found in Text Mining only
Calcinosis	Associate	35054772	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Associate	22384011	★☆☆☆☆ Found in Text Mining only
Endometriosis	Associate	22555803	★☆☆☆☆ Found in Text Mining only
Inflammation	Associate	36094626	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Associate	29698332	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Inhibit	30860083	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	22555803	★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	23536183, 30860083	★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Associate	40294019	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Inhibit	22555803	★☆☆☆☆ Found in Text Mining only
Periprosthetic Fractures	Associate	35306116	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Inhibit	30860083	★☆☆☆☆ Found in Text Mining only
Thrombosis	Associate	22384011, 30721642, 36094626	★☆☆☆☆ Found in Text Mining only