PTAFR platelet activating factor receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: PTAFRprovided by HGNC
Official Full Name: platelet activating factor receptorprovided by HGNC
Primary source: HGNC:HGNC:9582
See related: Ensembl:ENSG00000169403 MIM:173393; AllianceGenome:HGNC:9582
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: PAFR
Summary: This gene encodes a seven-transmembrane G-protein-coupled receptor for platelet-activating factor (PAF) that localizes to lipid rafts and/or caveolae in the cell membrane. PAF (1-0-alkyl-2-acetyl-sn-glycero-3-phosphorylcholine) is a phospholipid that plays a significant role in oncogenic transformation, tumor growth, angiogenesis, metastasis, and pro-inflammatory processes. Binding of PAF to the PAF-receptor (PAFR) stimulates numerous signal transduction pathways including phospholipase C, D, A2, mitogen-activated protein kinases (MAPKs), and the phosphatidylinositol-calcium second messenger system. Following PAFR activation, cells become rapidly desensitized and this refractory state is dependent on PAFR phosphorylation, internalization, and down-regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Expression: Broad expression in appendix (RPKM 15.7), bone marrow (RPKM 12.4) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p35.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (28147166..28193856, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (27988997..28035686, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (28473677..28520367, complement)

Chromosome 1 - NC_000001.11 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: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PAF-R on activated T cells: Role in the IL-23/Th17 pathway and relevance to multiple sclerosis.
Title: PAF-R on activated T cells: Role in the IL-23/Th17 pathway and relevance to multiple sclerosis.
The Platelet-Activating Factor Receptor's Association with the Outcome of Ovarian Cancer Patients and Its Experimental Inhibition by Rupatadine.
Title: The Platelet-Activating Factor Receptor's Association with the Outcome of Ovarian Cancer Patients and Its Experimental Inhibition by Rupatadine.
Thermal Burn Injury Generates Bioactive Microvesicles: Evidence for a Novel Transport Mechanism for the Lipid Mediator Platelet-Activating Factor (PAF) That Involves Subcellular Particles and the PAF Receptor.
Title: Thermal Burn Injury Generates Bioactive Microvesicles: Evidence for a Novel Transport Mechanism for the Lipid Mediator Platelet-Activating Factor (PAF) That Involves Subcellular Particles and the PAF Receptor.
Particulate matter exposure promotes Pseudomonas aeruginosa invasion into airway epithelia by upregulating PAFR via the ROS-mediated PI3K pathway.
Title: Particulate matter exposure promotes Pseudomonas aeruginosa invasion into airway epithelia by upregulating PAFR via the ROS-mediated PI3K pathway.
The PAF Receptor (PAFR) structures, combined with single-molecule FRET and cell-based functional assays, suggest that the conformational change in the helical bundle is ligand dependent and plays a critical role in PAFR activation, thus greatly extending knowledge about signaling by G-protein-coupled receptors
Title: Structural basis for signal recognition and transduction by platelet-activating-factor receptor.
he PAFR gene rs5938 or rs313152 polymorphisms might be a potential biomarker for susceptibility to coronary heart disease.
Title: Association of platelet-activating factor receptor gene rs5938 (G/T) and rs313152 (T/C) polymorphisms with coronary heart disease and blood stasis syndrome in a Chinese Han population.
Weighted gene co-expression network analysis of gene modules for the prognosis of esophageal cancer yielded PTAFR and FGR as the most important hub genes for predicting patient survival.
Title: Weighted gene co-expression network analysis of gene modules for the prognosis of esophageal cancer.
we demonstrate that PAFR inhibition can selectively enhances the sensitivity of radiotherapy in prostate cancer cells with elevated PAFR expression after irradiation exposure
Title: PAFR selectively mediates radioresistance and irradiation-induced autophagy suppression in prostate cancer cells.
PAFR overexpression is associated with pneumococcal infection.
Title: Pneumococcal infection of respiratory cells exposed to welding fumes; Role of oxidative stress and HIF-1 alpha.
WEB-2086 represents an innovative class of candidate drugs for inhibiting PAFr-dependent lung infections caused by the main bacterial drivers of smoking-related COPD.
Title: An antagonist of the platelet-activating factor receptor inhibits adherence of both nontypeable Haemophilus influenzae and Streptococcus pneumoniae to cultured human bronchial epithelial cells exposed to cigarette smoke.

Submit: New GeneRIF Correction See all GeneRIFs (59)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Pre-incubation of podocytes with two platelet-activating factor (PAF) receptor antagonists prevents the loss and redistribution of nephrin induced by Tat, suggesting that PAF is an intracellular mediator of Tat action	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

GDB:455460 (e-PCR)
- UniSTS:157464

PTAFR (e-PCR)
- UniSTS:479776

L18426 (e-PCR)
- UniSTS:34648

L17709 (e-PCR)
- UniSTS:42599

WI-7771 (e-PCR)
- UniSTS:19562

RH68225 (e-PCR)
- UniSTS:69491

D1S1423 (e-PCR)
- UniSTS:149619

D11S3114 (e-PCR)
- UniSTS:152207

SHGC-74513 (e-PCR)
- UniSTS:50081

RH93431 (e-PCR)
- UniSTS:89005

A006N37 (e-PCR)
- UniSTS:56248

RH104513 (e-PCR)
- UniSTS:98813

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled purinergic nucleotide receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables G protein-coupled receptor activity	TAS Traceable Author Statement more info	PubMed
enables lipopolysaccharide binding	IEA Inferred from Electronic Annotation more info
enables lipopolysaccharide immune receptor activity	IEA Inferred from Electronic Annotation more info
enables mitogen-activated protein kinase binding	IEA Inferred from Electronic Annotation more info
enables phospholipid binding	IDA Inferred from Direct Assay more info	PubMed
enables platelet activating factor receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled purinergic nucleotide receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to 2-O-acetyl-1-O-hexadecyl-sn-glycero-3-phosphocholine	IEA Inferred from Electronic Annotation more info
involved_in cellular response to cAMP	IEA Inferred from Electronic Annotation more info
involved_in cellular response to fatty acid	IEA Inferred from Electronic Annotation more info
involved_in cellular response to gravity	IEA Inferred from Electronic Annotation more info
involved_in chemotaxis	IEA Inferred from Electronic Annotation more info
involved_in immune response	TAS Traceable Author Statement more info	PubMed
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in inositol trisphosphate biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in lipopolysaccharide-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of blood pressure	IEA Inferred from Electronic Annotation more info
involved_in parturition	IEA Inferred from Electronic Annotation more info
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cellular extravasation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gastro-intestinal system smooth muscle contraction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of inositol phosphate biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of interleukin-6 production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of leukocyte tethering or rolling	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of maternal process involved in parturition	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neutrophil degranulation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of smooth muscle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcytosis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of translation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of tumor necrosis factor production	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in response to dexamethasone	IEA Inferred from Electronic Annotation more info
involved_in response to symbiotic bacterium	IEA Inferred from Electronic Annotation more info
involved_in transcytosis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in secretory granule membrane	TAS Traceable Author Statement more info
located_in tertiary granule membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: platelet-activating factor receptor

Names: PAF-R

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.

Genomic

NG_029815.1 RefSeqGene

Range

22247..51771

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000952.5 → NP_000943.1 platelet-activating factor receptor

See identical proteins and their annotated locations for NP_000943.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks the 5' exon, but has an alternate 5' segment, as compared to variant 1. Variants 1-4 encode the same protein.

Source sequence(s)

AL137792, BC063000, DA923972

Consensus CDS

CCDS318.1

UniProtKB/Swiss-Prot

A3KMC8, A8K2H5, P25105

UniProtKB/TrEMBL

A8K7N8, B2R7Z4

Related

ENSP00000362965.3, ENST00000373857.8

Conserved Domains (1) summary

cd15147
Location:16 → 304

7tmA_PAFR; platelet-activating factor receptor, member of the class A family of seven-transmembrane G protein-coupled receptors
NM_001164721.2 → NP_001158193.1 platelet-activating factor receptor

See identical proteins and their annotated locations for NP_001158193.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) is composed of three exons. Variants 1-4 encode the same protein.

Source sequence(s)

AL137792, BC063000, DA705644

Consensus CDS

CCDS318.1

UniProtKB/Swiss-Prot

A3KMC8, A8K2H5, P25105

UniProtKB/TrEMBL

A8K7N8, B2R7Z4

Related

ENSP00000442658.1, ENST00000539896.1

Conserved Domains (1) summary

cd15147
Location:16 → 304

7tmA_PAFR; platelet-activating factor receptor, member of the class A family of seven-transmembrane G protein-coupled receptors
NM_001164722.3 → NP_001158194.1 platelet-activating factor receptor

See identical proteins and their annotated locations for NP_001158194.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an internal 5' UTR exon, as compared to variant 1. Variants 1-4 encode the same protein.

Source sequence(s)

AL137792, DA705644

Consensus CDS

CCDS318.1

UniProtKB/Swiss-Prot

A3KMC8, A8K2H5, P25105

UniProtKB/TrEMBL

A8K7N8, B2R7Z4

Related

ENSP00000301974.3, ENST00000305392.3

Conserved Domains (1) summary

cd15147
Location:16 → 304

7tmA_PAFR; platelet-activating factor receptor, member of the class A family of seven-transmembrane G protein-coupled receptors
NM_001164723.3 → NP_001158195.1 platelet-activating factor receptor

See identical proteins and their annotated locations for NP_001158195.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks the 5' exon, but has an additional exon in the 5' region, as compared to variant 1. Variants 1-4 encode the same protein.

Source sequence(s)

AL137792, AL353354, CD013879

Consensus CDS

CCDS318.1

UniProtKB/Swiss-Prot

A3KMC8, A8K2H5, P25105

UniProtKB/TrEMBL

A8K7N8, B2R7Z4

Conserved Domains (1) summary

cd15147
Location:16 → 304

7tmA_PAFR; platelet-activating factor receptor, member of the class A family of seven-transmembrane G protein-coupled receptors