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

Gene ID: 5197, updated on 27-Nov-2024

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
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Genomic context

See PF4V1 in Genome Data Viewer
Location:
4q13.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (73853296..73854483)
RS_2024_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_000004.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 152 Neighboring gene C-X-C motif chemokine ligand 6 Neighboring gene pro-platelet basic protein pseudogene 1 Neighboring gene C-X-C motif chemokine ligand 1 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 55

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 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 inflammatory response IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in neutrophil chemotaxis IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

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)

  1. NM_002620.4NP_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:4199
    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 ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    73853296..73854483
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    77196961..77198148
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)