PTAFR Gene (Protein Coding)

Platelet Activating Factor Receptor

GC01M028147
GIFtS:
44
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. Bin... See more...

Aliases for PTAFR Gene

Aliases for PTAFR Gene

  • Platelet Activating Factor Receptor 2 3 5
  • Platelet-Activating Factor Receptor 3 4
  • PAF-R 3 4
  • PAFR 3 4
  • PTAFR 5
  • PAFr 4

External Ids for PTAFR Gene

Previous GeneCards Identifiers for PTAFR Gene

  • GC01P026956
  • GC01M027486
  • GC01M027708
  • GC01M028080
  • GC01M028161
  • GC01M028346
  • GC01M028473
  • GC01M026730

Summaries for PTAFR Gene

Entrez Gene Summary for PTAFR Gene

  • 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]

GeneCards Summary for PTAFR Gene

PTAFR (Platelet Activating Factor Receptor) is a Protein Coding gene. Diseases associated with PTAFR include Bacterial Sepsis and Myringitis Bullosa Hemorrhagica. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and lipopolysaccharide binding. An important paralog of this gene is P2RY12.

UniProtKB/Swiss-Prot Summary for PTAFR Gene

  • Receptor for platelet activating factor, a chemotactic phospholipid mediator that possesses potent inflammatory, smooth-muscle contractile and hypotensive activity. Seems to mediate its action via a G protein that activates a phosphatidylinositol-calcium second messenger system.

Tocris Summary for PTAFR Gene

  • Platelet-activating factor receptor (PAF-R) is a Gq/G11-coupled-protein receptor that has a role in a wide range of biological processes such as vasodilation, superoxide formation, cell proliferation, angiogenesis and regulation of the inflammatory response.

Gene Wiki entry for PTAFR Gene

Additional gene information for PTAFR Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PTAFR Gene

Genomics for PTAFR Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PTAFR Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PTAFR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PTAFR

Top Transcription factor binding sites by QIAGEN in the PTAFR gene promoter:
  • C/EBPalpha
  • HTF
  • IRF-1
  • IRF-2
  • LyF-1
  • Nkx5-1
  • Pax-4a
  • Roaz
  • XBP-1

Genomic Locations for PTAFR Gene

Latest Assembly
chr1:28,147,166-28,193,936
(GRCh38/hg38)
Size:
46,771 bases
Orientation:
Minus strand

Previous Assembly
chr1:28,473,677-28,520,367
(GRCh37/hg19 by Entrez Gene)
Size:
46,691 bases
Orientation:
Minus strand

chr1:28,473,677-28,520,447
(GRCh37/hg19 by Ensembl)
Size:
46,771 bases
Orientation:
Minus strand

Genomic View for PTAFR Gene

Genes around PTAFR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTAFR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTAFR Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PTAFR Gene

Proteins for PTAFR Gene

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  • Protein details for PTAFR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P25105-PTAFR_HUMAN
    Recommended name:
    Platelet-activating factor receptor
    Protein Accession:
    P25105
    Secondary Accessions:
    • A3KMC8
    • A8K2H5

    Protein attributes for PTAFR Gene

    Size:
    342 amino acids
    Molecular mass:
    39203 Da
    Quaternary structure:
    • Interacts with ARRB1.

    Three dimensional structures from OCA and Proteopedia for PTAFR Gene

neXtProt entry for PTAFR Gene

Post-translational modifications for PTAFR Gene

  • Glycosylation at Asn169
  • Modification sites at PhosphoSitePlus

Other Protein References for PTAFR Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PTAFR Gene

Domains & Families for PTAFR Gene

Gene Families for PTAFR Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • G-protein coupled receptors
  • Predicted membrane proteins
  • Transporters

Protein Domains for PTAFR Gene

InterPro:
Blocks:
  • Platelet activating factor receptor signature
ProtoNet:

Suggested Antigen Peptide Sequences for PTAFR Gene

GenScript: Design optimal peptide antigens:
  • Platelet-activating factor receptor (PTAFR_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P25105

UniProtKB/Swiss-Prot:

PTAFR_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with PTAFR: view

Function for PTAFR Gene

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  6. Cell Lines for research

Molecular function for PTAFR Gene

UniProtKB/Swiss-Prot Function:
Receptor for platelet activating factor, a chemotactic phospholipid mediator that possesses potent inflammatory, smooth-muscle contractile and hypotensive activity. Seems to mediate its action via a G protein that activates a phosphatidylinositol-calcium second messenger system.
UniProtKB/Swiss-Prot Induction:
By CSF2/GM-CSF, IL5/interleukin-5 and n-butyrate.
GENATLAS Biochemistry:
platelet activating factor,receptor,G protein coupled receptor superfamilu

Phenotypes From GWAS Catalog for PTAFR Gene

Gene Ontology (GO) - Molecular Function for PTAFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001530 lipopolysaccharide binding IEA --
GO:0001875 lipopolysaccharide receptor activity IEA --
GO:0004930 G protein-coupled receptor activity TAS 1322356
GO:0004992 platelet activating factor receptor activity IDA 1281995
GO:0005515 protein binding IPI 28298427
genes like me logo Genes that share ontologies with PTAFR: view
genes like me logo Genes that share phenotypes with PTAFR: view

Animal Models for PTAFR Gene

MGI Knock Outs for PTAFR:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTAFR

Clone products for research

  • Addgene plasmids for PTAFR

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PTAFR Gene

Localization for PTAFR Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTAFR Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PTAFR gene
Compartment Confidence
plasma membrane 5
nucleus 3
extracellular 2
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Nucleoplasm (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PTAFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8168510
GO:0016020 membrane IEA,IDA 1374385
GO:0016021 integral component of membrane NAS 1281995
GO:0030667 secretory granule membrane TAS --
genes like me logo Genes that share ontologies with PTAFR: view

Pathways & Interactions for PTAFR Gene

genes like me logo Genes that share pathways with PTAFR: view

SIGNOR curated interactions for PTAFR Gene

Activates:

Gene Ontology (GO) - Biological Process for PTAFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002693 positive regulation of cellular extravasation IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0006935 chemotaxis TAS,IEA --
GO:0006954 inflammatory response IEA --
GO:0006955 immune response TAS 8892648
genes like me logo Genes that share ontologies with PTAFR: view

Drugs & Compounds for PTAFR Gene

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(56) Drugs for PTAFR Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Rupatadine Approved Pharma Target, antagonist 0
Etizolam Experimental Pharma Target, antagonist 0
Platelet Activating Factor Experimental Pharma Target 0
PCA 4248 Pharma Antagonist PAF receptor antagonist 0
WEB 2086 Pharma Antagonist Potent PAF receptor antagonist 0

(34) Additional Compounds for PTAFR Gene - From: Novoseek and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
52770 RP
Antagonist
SR 27417
Antagonist
Y-24180
Antagonist

(4) Tocris Compounds for PTAFR Gene

Compound Action Cas Number
Ginkgolide B PAF receptor antagonist 15291-77-7
PAF (C16) Endogenous platelet-activating factor (PAF) 74389-68-7
PCA 4248 PAF receptor antagonist 123875-01-4
WEB 2086 Potent PAF receptor antagonist 105219-56-5

(4) ApexBio Compounds for PTAFR Gene

Compound Action Cas Number
Ginkgolide B PAF receptor antagonist 15291-77-7
PAF (C16) ligand for PAF receptors 74389-68-7
PCA 4248 123875-01-4
WEB 2086 105219-56-5
genes like me logo Genes that share compounds with PTAFR: view

Drug products for research

Transcripts for PTAFR Gene

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mRNA/cDNA for PTAFR Gene

4 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTAFR

Clone products for research

  • Addgene plasmids for PTAFR

Alternative Splicing Database (ASD) splice patterns (SP) for PTAFR Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d
SP1: - -
SP2: - -
SP3: -
SP4: - - -

Relevant External Links for PTAFR Gene

GeneLoc Exon Structure for
PTAFR

Expression for PTAFR Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PTAFR Gene

mRNA expression in normal human tissues for PTAFR Gene
mRNA expression by GTEx for PTAFR GenemRNA expression by BioGPS for PTAFR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PTAFR Gene

This gene is overexpressed in Whole Blood (x30.8).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PTAFR

SOURCE GeneReport for Unigene cluster for PTAFR Gene:

Hs.77542

mRNA Expression by UniProt/SwissProt for PTAFR Gene:

P25105-PTAFR_HUMAN
Tissue specificity: Expressed in the placenta, lung, left and right heart ventricles, heart atrium, leukocytes and differentiated HL-60 granulocytes.

Evidence on tissue expression from TISSUES for PTAFR Gene

  • Blood(4.7)
  • Nervous system(4.5)
  • Heart(4.4)
  • Lung(2.7)
  • Intestine(2.3)
  • Bone marrow(2.1)
  • Spleen(2.1)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with PTAFR: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PTAFR Gene

Orthologs for PTAFR Gene

This gene was present in the common ancestor of chordates.

Orthologs for PTAFR Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia PTAFR 30 31
  • 99.42 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PTAFR 30 31
  • 87.29 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PTAFR 30 31
  • 87.22 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ptafr 30
  • 82.5 (n)
Mouse
(Mus musculus)
 Mammalia Ptafr 30 17 31
  • 82.31 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia PTAFR 31
  • 74 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia PTAFR 31
  • 73 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves PTAFR 30 31
  • 66.99 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia PTAFR 31
  • 56 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ptafr 30
  • 60.12 (n)
Str.5217 30
African clawed frog
(Xenopus laevis)
 Amphibia MGC52896 30
Zebrafish
(Danio rerio)
 Actinopterygii LOC100002627 30
  • 55.52 (n)
PTAFR 31
  • 42 (a)
 OneToOne
Species where no ortholog for PTAFR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PTAFR Gene

ENSEMBL:
Gene Tree for PTAFR (if available)
TreeFam:
Gene Tree for PTAFR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PTAFR: view image

Paralogs for PTAFR Gene

Paralogs for PTAFR Gene

(20) SIMAP similar genes for PTAFR Gene using alignment to 1 proteins:

  • PTAFR_HUMAN
genes like me logo Genes that share paralogs with PTAFR: view

Variants for PTAFR Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PTAFR Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs140866472 Benign: not provided 28,150,202(-) C/T
NM_000952.5(PTAFR):c.820G>A (p.Ala274Thr) 		MISSENSE
rs5938 - p.Ala224Asp
rs5939 - p.Asn338Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PTAFR Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PTAFR Gene

Variant ID Type Subtype PubMed ID
esv2678105 CNV deletion 23128226
esv3359002 CNV duplication 20981092
esv3370107 CNV insertion 20981092
esv3585573 CNV loss 21293372
esv3585574 CNV loss 21293372
nsv473375 CNV novel sequence insertion 20440878
nsv7546 CNV deletion 18451855

Variation tolerance for PTAFR Gene

Residual Variation Intolerance Score: 51% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.49; 55.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PTAFR Gene

Human Gene Mutation Database (HGMD)
PTAFR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTAFR

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTAFR Gene

Disorders for PTAFR Gene

MalaCards: The human disease database

(2) MalaCards diseases for PTAFR Gene - From: COP and GCD

Disorder Aliases PubMed IDs
bacterial sepsis
myringitis bullosa hemorrhagica
  • bullous myringitis
- elite association - COSMIC cancer census association via MalaCards
Search PTAFR in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PTAFR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PTAFR: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PTAFR Gene

Publications for PTAFR Gene

  1. The human platelet-activating factor receptor gene (PTAFR) contains no introns and maps to chromosome 1. (PMID: 1322356) Seyfried CE … Gray PW (Genomics 1992) 2 3 4 23
  2. Platelet-activating factor-induced clathrin-mediated endocytosis requires beta-arrestin-1 recruitment and activation of the p38 MAPK signalosome at the plasma membrane for actin bundle formation. (PMID: 16709866) McLaughlin NJ … Silliman CC (Journal of immunology (Baltimore, Md. : 1950) 2006) 3 4 23
  3. Platelet-activating factor receptor gene polymorphism in Japanese patients with multiple sclerosis. (PMID: 15748960) Osoegawa M … Kira J (Journal of neuroimmunology 2005) 3 23 41
  4. Platelet-activating factor-acetylhydrolase and PAF-receptor gene haplotypes in relation to future cardiovascular event in patients with coronary artery disease. (PMID: 15115767) Ninio E … Tiret L (Human molecular genetics 2004) 3 23 41
  5. Amino acid residues critical for endoplasmic reticulum export and trafficking of platelet-activating factor receptor. (PMID: 20007715) Hirota N … Nakamura M (The Journal of biological chemistry 2010) 3 23

ExternalLinks

View latest publications for PTAFR gene in Mastermind

Products for PTAFR Gene

  • Addgene plasmids for PTAFR

Sources for PTAFR Gene