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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]
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.
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.
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 |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Peptide ligand-binding receptors | ||
2 | Signaling by GPCR | ||
3 | Innate Immune System |
.61
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|
4 | Cytokine Signaling in Immune system | ||
5 | RET signaling |
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 |
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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
52770 RP |
|
Antagonist |
|
|||
SR 27417 |
|
Antagonist |
|
|||
Y-24180 |
|
Antagonist |
|
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 |
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 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | · | 4c | · | 4d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||
SP2: | - | - | |||||||||||||||||
SP3: | - | ||||||||||||||||||
SP4: | - | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PTAFR 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PTAFR 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PTAFR 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ptafr 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ptafr 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PTAFR 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PTAFR 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PTAFR 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PTAFR 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ptafr 30 |
|
||
Str.5217 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC52896 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100002627 30 |
|
||
PTAFR 31 |
|
OneToOne |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
bacterial sepsis |
|
|
myringitis bullosa hemorrhagica |
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|