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

    Gene ID: 5724, updated on 17-Sep-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PTAFR in Genome Data Viewer
    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_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 534 Neighboring gene RNA, U6 small nuclear 176, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:28474708-28475208 Neighboring gene RNA, U7 small nuclear 29 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 586 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 587 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 588 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 589 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 590 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 535 Neighboring gene DnaJ heat shock protein family (Hsp40) member C8 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:28559230-28559763 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:28561534-28562040 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 591 Neighboring gene ATP synthase inhibitory factor subunit 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: DNAJC8

    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

    Preferred Names
    platelet-activating factor receptor
    Names
    PAF-R

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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

    1. NG_029815.1 RefSeqGene

      Range
      22247..51771
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000952.5NP_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:16304
      7tmA_PAFR; platelet-activating factor receptor, member of the class A family of seven-transmembrane G protein-coupled receptors
    2. NM_001164721.2NP_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:16304
      7tmA_PAFR; platelet-activating factor receptor, member of the class A family of seven-transmembrane G protein-coupled receptors
    3. NM_001164722.3NP_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:16304
      7tmA_PAFR; platelet-activating factor receptor, member of the class A family of seven-transmembrane G protein-coupled receptors
    4. NM_001164723.3NP_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:16304
      7tmA_PAFR; platelet-activating factor receptor, member of the class A family of seven-transmembrane G protein-coupled receptors

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      28147166..28193856 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      27988997..28035686 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)