PF4V1 platelet factor 4 variant 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PF4V1provided by HGNC
Official Full Name: platelet factor 4 variant 1provided by HGNC
Primary source: HGNC:HGNC:8862
See related: Ensembl:ENSG00000109272 MIM:173461; AllianceGenome:HGNC:8862
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PF4A; CXCL4L1; CXCL4V1; PF4-ALT; SCYB4V1
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 can protect against blood-retinal barrier breakdown in diabetes patients. [provided by RefSeq, Nov 2015]
Expression: Biased expression in bone marrow (RPKM 2.7), spleen (RPKM 1.4) and 9 other tissues See more
Orthologs: all
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Genomic context

Location:: 4q13.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2025_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (73853296..73854483)
RS_2025_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (77196961..77198148)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (74719013..74720200)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Heterocomplexes between the atypical chemokine MIF and the CXC-motif chemokine CXCL4L1 regulate inflammation and thrombus formation.
Title: Heterocomplexes between the atypical chemokine MIF and the CXC-motif chemokine CXCL4L1 regulate inflammation and thrombus formation.
Differential Effects of Platelet Factor 4 (CXCL4) and Its Non-Allelic Variant (CXCL4L1) on Cultured Human Vascular Smooth Muscle Cells.
Title: Differential Effects of Platelet Factor 4 (CXCL4) and Its Non-Allelic Variant (CXCL4L1) on Cultured Human Vascular Smooth Muscle Cells.
CXCL4L1 promoter variants may protect against the development of renal inflammation in diabetes by increasing CXCL4L1 expression, which in turn activates the anti-inflammatory SMAD7 and IkappaBalpha factors in mesangial cells.
Title: CXCL4L1 Promoter Polymorphisms Are Associated with Improved Renal Function in Type 1 Diabetes.
CXCL4 and CXCL4L1 shift the angiogenic/angiostatic balance in favor of angiostasis. CXCL4L1 in particular was found to be a more potent angiostatic, anti-tumoral and anti-metastatic chemokine, which was verified in different in vivo models.
Title: CXCL4 and CXCL4L1 in cancer.
Fibstatin and CXCL4L1 cooperate to inhibit endothelial cell proliferation, migration and tubulogenesis in vitro.
Title: CXCL4L1-fibstatin cooperation inhibits tumor angiogenesis, lymphangiogenesis and metastasis.
CXCL4 and CXCL4L1 activated p38 MAPK, as well as Src kinase within 30 and 5 min, respectively. Extracellular signal-regulated kinase (ERK) phosphorylation occurred in activated lymphocytes.
Title: CXCL4L1 and CXCL4 signaling in human lymphatic and microvascular endothelial cells and activated lymphocytes: involvement of mitogen-activated protein (MAP) kinases, Src and p70S6 kinase.
fibstatin and CXCL4L1 have cooperative roles in inhibition of tumor invasion in lymph nodes
Title: CXCL4L1-fibstatin cooperation inhibits tumor angiogenesis, lymphangiogenesis and metastasis.
Structural insight into the novel functional properties of human CXCL4L1.
Title: Alternative C-terminal helix orientation alters chemokine function: structure of the anti-angiogenic chemokine, CXCL4L1.
PF-4var/CXCL4L1 predicts outcome in stable coronary artery disease patients with preserved left ventricular function
Title: PF-4var/CXCL4L1 predicts outcome in stable coronary artery disease patients with preserved left ventricular function.
Current knowledge on the role of CXCL4/PF-4 and CXCL4L1/PF-4var in physiological and pathological processes.
Title: The role of the CXC chemokines platelet factor-4 (CXCL4/PF-4) and its variant (CXCL4L1/PF-4var) in inflammation, angiogenesis and cancer.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Pf4 (e-PCR), detects polymorphism
- UniSTS:516554

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables CXCR chemokine receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables chemokine activity	IBA Inferred from Biological aspect of Ancestor more info
enables chemokine activity	IEA Inferred from Electronic Annotation more info
enables cytokine activity	IEA Inferred from Electronic Annotation more info
enables heparin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to lipopolysaccharide	IBA Inferred from Biological aspect of Ancestor more info
involved_in chemotaxis	IEA Inferred from Electronic Annotation more info
involved_in defense response	IEA Inferred from Electronic Annotation more info
involved_in immune response	IEA Inferred from Electronic Annotation more info
involved_in inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in neutrophil chemotaxis	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: platelet factor 4 variant

Names: C-X-C motif chemokine 4; PF4alt; PF4var1; platelet factor 4, variant 1 (PF4-like)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_002620.4 → NP_002611.1 platelet factor 4 variant precursor

See identical proteins and their annotated locations for NP_002611.1

Status: REVIEWED

Source sequence(s)

AC092438, BC130653

Consensus CDS

CCDS3561.1

UniProtKB/Swiss-Prot

A1L4S0, P10720

Related

ENSP00000226524.3, ENST00000226524.4

Conserved Domains (1) summary

cd00273
Location:41 → 99

Chemokine_CXC; Chemokine_CXC: 1 of 4 subgroup designations based on the arrangement of the two N-terminal cysteine residues; includes a number of secreted growth factors and interferons involved in mitogenic, chemotactic, and inflammatory activity; many members ...