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    PLA2G7 phospholipase A2 group VII [ Homo sapiens (human) ]

    Gene ID: 7941, updated on 20-Feb-2017
    Official Symbol
    PLA2G7provided by HGNC
    Official Full Name
    phospholipase A2 group VIIprovided by HGNC
    Primary source
    HGNC:HGNC:9040
    See related
    Ensembl:ENSG00000146070 MIM:601690; Vega:OTTHUMG00000014789
    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
    PAFAD; PAFAH; LP-PLA2; LDL-PLA2
    Summary
    The protein encoded by this gene is a secreted enzyme that catalyzes the degradation of platelet-activating factor to biologically inactive products. Defects in this gene are a cause of platelet-activating factor acetylhydrolase deficiency. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2009]
    Orthologs
    Location:
    6p12.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (46700954..46735836, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (46672053..46703430, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene cytochrome P450 family 39 subfamily A member 1 Neighboring gene solute carrier family 25 member 27 Neighboring gene uncharacterized LOC101926934 Neighboring gene tudor domain containing 6 Neighboring gene ankyrin repeat domain 66 Neighboring gene meprin A subunit alpha

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Asthma, susceptibility to
    MedGen: C1869116 OMIM: 600807 GeneReviews: Not available
    Compare labs
    Ige responsiveness, atopic
    MedGen: C1840253 OMIM: 147050 GeneReviews: Not available
    Compare labs
    Platelet-activating factor acetylhydrolase deficiency
    MedGen: C1866472 OMIM: 614278 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies.
    NHGRI GWA Catalog
    Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.
    NHGRI GWA Catalog
    Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 downregulates the expression of phospholipase A2, group VII (PLA2G7) in human B cells PubMed
    env HIV-1 gp120 induces a specific phospholipase A2 (PLA2) activation in lymphocytes through binding to CD4, but this effect is not sufficient to accomplish virus/cell fusion PubMed
    env HIV-1 gp120 causes an activation of phospholipase A2, resulting in the increased release of arachidonic acid, which may sensitize the NMDA receptor PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    lipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    lipid oxidation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    low-density lipoprotein particle remodeling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma lipoprotein particle oxidation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    platelet activating factor metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of inflammatory response TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of monocyte chemotaxis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region TAS
    Traceable Author Statement
    more info
     
    low-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    platelet-activating factor acetylhydrolase
    Names
    1-alkyl-2-acetylglycerophosphocholine esterase
    2-acetyl-1-alkylglycerophosphocholine esterase
    LDL-PLA(2)
    LDL-associated phospholipase A2
    PAF 2-acylhydrolase
    PAF acetylhydrolase
    gVIIA-PLA2
    group-VIIA phospholipase A2
    lipoprotein-associated phospholipase A2
    phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
    NP_001161829.1
    NP_005075.3

    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_016204.1 RefSeqGene

      Range
      5001..36378
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001168357.1NP_001161829.1  platelet-activating factor acetylhydrolase precursor

      See identical proteins and their annotated locations for NP_001161829.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AL591242, BC025674, BC038452
      Consensus CDS
      CCDS4917.1
      UniProtKB/Swiss-Prot
      Q13093
      Related
      ENSP00000445666, ENST00000537365
      Conserved Domains (2) summary
      COG1073
      Location:124294
      FrsA; Fermentation-respiration switch protein FrsA, has esterase activity, DUF1100 family [Signal transduction mechanisms]
      pfam03403
      Location:48416
      PAF-AH_p_II; Platelet-activating factor acetylhydrolase, isoform II
    2. NM_005084.3NP_005075.3  platelet-activating factor acetylhydrolase precursor

      See identical proteins and their annotated locations for NP_005075.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AL591242, BC025674, BP326231, U20157
      Consensus CDS
      CCDS4917.1
      UniProtKB/Swiss-Prot
      Q13093
      Related
      ENSP00000274793, OTTHUMP00000016555, ENST00000274793, OTTHUMT00000040802
      Conserved Domains (2) summary
      COG1073
      Location:124294
      FrsA; Fermentation-respiration switch protein FrsA, has esterase activity, DUF1100 family [Signal transduction mechanisms]
      pfam03403
      Location:48416
      PAF-AH_p_II; Platelet-activating factor acetylhydrolase, isoform II

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      46700954..46735836 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005249408.4XP_005249465.1  platelet-activating factor acetylhydrolase isoform X1

      See identical proteins and their annotated locations for XP_005249465.1

      UniProtKB/Swiss-Prot
      Q13093
      Conserved Domains (2) summary
      COG1073
      Location:124294
      FrsA; Fermentation-respiration switch protein FrsA, has esterase activity, DUF1100 family [Signal transduction mechanisms]
      pfam03403
      Location:48416
      PAF-AH_p_II; Platelet-activating factor acetylhydrolase, isoform II

    RNA

    1. XR_001743639.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      46675466..46706812 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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