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

Gene ID: 7941, updated on 3-Apr-2024

Summary

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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; AllianceGenome:HGNC:9040
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]
Expression
Broad expression in appendix (RPKM 6.4), lymph node (RPKM 5.5) and 18 other tissues See more
Orthologs
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Genomic context

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Location:
6p12.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (46704201..46735721, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (46541848..46573478, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (46671938..46703458, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene cytochrome P450 family 39 subfamily A member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:46542802-46543302 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:46543303-46543803 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24652 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24653 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24654 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17273 Neighboring gene solute carrier family 25 member 27 Neighboring gene TDRD6 and SLC25A27 antisense RNA 1 Neighboring gene tudor domain containing 6 Neighboring gene ankyrin repeat domain 66 Neighboring gene meprin A subunit alpha

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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 Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Bioinformatics analysis of PLA2G7 as an immune-related biomarker in COPD by promoting expansion and suppressive functions of MDSCs. Zhao X, et al. Int Immunopharmacol, 2023 Jul. PMID 37270927
  2. [Serum lipoprotein-associated phospholipase A2 level is positively correlated with the recurrence risk of acute ischemic cerebral infarction in hypertensive patients]. Liang L, et al. Nan Fang Yi Ke Da Xue Xue Bao, 2023 Feb 20. PMID 36946054, Free PMC Article
  3. PLA2G7/PAF-AH as Potential Negative Regulator of the Wnt Signaling Pathway Mediates Protective Effects in BRCA1 Mutant Breast Cancer. Liao Y, et al. Int J Mol Sci, 2023 Jan 3. PMID 36614323, Free PMC Article
  4. Correlation of lipoprotein-associated phospholipase A2 and cerebral microbleeds in patients with acute ischaemic stroke. Zhang X, et al. BMC Neurol, 2022 Dec 14. PMID 36517761, Free PMC Article
  5. Association Lp-PLA2 Gene Polymorphisms with Coronary Heart Disease. Ma S, et al. Dis Markers, 2022. PMID 35818585, Free PMC Article

See all (325) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Bioinformatics Analysis Identifies PLA2G7 as a Key Antigen-Presenting Prognostic Related Gene Promoting Hepatocellular Carcinoma through the STAT1/PD-L1 Axis.
    Title: Bioinformatics Analysis Identifies PLA2G7 as a Key Antigen-Presenting Prognostic Related Gene Promoting Hepatocellular Carcinoma through the STAT1/PD-L1 Axis.
  2. Lipoprotein-associated phospholipase A2 predicts cardiovascular death in patients on maintenance hemodialysis: a 7-year prospective cohort study.
    Title: Lipoprotein-associated phospholipase A2 predicts cardiovascular death in patients on maintenance hemodialysis: a 7-year prospective cohort study.
  3. The association between circulating Hcy and Lp-PLA2 levels and poststroke depression: A meta-analysis.
    Title: The association between circulating Hcy and Lp-PLA2 levels and poststroke depression: A meta-analysis.
  4. The value of serum lipoprotein-associated phospholipase A2, ischemia-modified albumin, and cystatin C in predicting coronary heart disease risk: a single center retrospective cohort study.
    Title: The value of serum lipoprotein-associated phospholipase A2, ischemia-modified albumin, and cystatin C in predicting coronary heart disease risk: a single center retrospective cohort study.
  5. Sudden Sensorineural Hearing Loss Is Related to Endothelial Progenitor Cells and Lipoprotein-Associated Phospholipase A2.
    Title: Sudden Sensorineural Hearing Loss Is Related to Endothelial Progenitor Cells and Lipoprotein-Associated Phospholipase A2.
  6. Lipoprotein-Associated Phospholipase A2 has Comparable Ability as Anthropometric Indices to Discriminate Cardiovascular Disease Risk: A Cross-Sectional Study.
    Title: Lipoprotein-Associated Phospholipase A2 has Comparable Ability as Anthropometric Indices to Discriminate Cardiovascular Disease Risk: A Cross-Sectional Study.
  7. Lipoprotein-Associated Phospholipase A2 Correlates with Reduced Left Ventricle Ejection Fraction in Hemodialysis Patients.
    Title: Lipoprotein-Associated Phospholipase A2 Correlates with Reduced Left Ventricle Ejection Fraction in Hemodialysis Patients.
  8. The diagnostic value of lipoprotein-associated phospholipase A2 in early diabetic nephropathy.
    Title: The diagnostic value of lipoprotein-associated phospholipase A2 in early diabetic nephropathy.
  9. Bioinformatics analysis of PLA2G7 as an immune-related biomarker in COPD by promoting expansion and suppressive functions of MDSCs.
    Title: Bioinformatics analysis of PLA2G7 as an immune-related biomarker in COPD by promoting expansion and suppressive functions of MDSCs.
  10. [Serum lipoprotein-associated phospholipase A2 level is positively correlated with the recurrence risk of acute ischemic cerebral infarction in hypertensive patients].
    Title: [Serum lipoprotein-associated phospholipase A2 level is positively correlated with the recurrence risk of acute ischemic cerebral infarction in hypertensive patients].
Submit: New GeneRIF Correction See all GeneRIFs (284)

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

Associated conditions

Description Tests
Platelet-activating factor acetylhydrolase deficiency
MedGen: C3280315 OMIM: 614278 GeneReviews: Not available
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EBI 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.
EBI GWAS Catalog
Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.
EBI GWAS Catalog
Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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

Pathways from PubChem

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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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 1-alkyl-2-acetylglycerophosphocholine esterase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables 1-alkyl-2-acetylglycerophosphocholine esterase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables calcium-independent phospholipase A2 activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables hydrolase activity, acting on ester bonds TAS
Traceable Author Statement
more info
  
enables phospholipid binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in lipid oxidation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in low-density lipoprotein particle remodeling IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in peptide hormone processing TAS
Traceable Author Statement
more info
  
involved_in phosphatidylcholine catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in plasma lipoprotein particle oxidation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in platelet activating factor catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in platelet activating factor metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of inflammatory response TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of monocyte chemotaxis IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in extracellular region TAS
Traceable Author Statement
more info
  
part_of high-density lipoprotein particle IDA
Inferred from Direct Assay
more info
 PubMed 
part_of low-density lipoprotein particle IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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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
XP_005249465.1
XP_047275315.1
XP_047275316.1
XP_054212394.1
XP_054212395.1

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

  1. NG_016204.1 RefSeqGene

    Range
    5319..36493
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001168357.2 → NP_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)
    AL451143, AL591242, BC025674, BC038452
    Consensus CDS
    CCDS4917.1
    UniProtKB/Swiss-Prot
    A5HTT5, Q13093, Q15692, Q5VTT1, Q8IVA2
    UniProtKB/TrEMBL
    A8K2W6
    Related
    ENSP00000445666.1, ENST00000537365.1
    Conserved Domains (2) summary
    COG1073
    Location:124 → 294
    FrsA; Fermentation-respiration switch protein FrsA, has esterase activity, DUF1100 family [Signal transduction mechanisms]
    pfam03403
    Location:48 → 416
    PAF-AH_p_II; Platelet-activating factor acetylhydrolase, isoform II

  2. NM_005084.4 → NP_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
    A5HTT5, Q13093, Q15692, Q5VTT1, Q8IVA2
    UniProtKB/TrEMBL
    A8K2W6
    Related
    ENSP00000274793.7, ENST00000274793.12
    Conserved Domains (2) summary
    COG1073
    Location:124 → 294
    FrsA; Fermentation-respiration switch protein FrsA, has esterase activity, DUF1100 family [Signal transduction mechanisms]
    pfam03403
    Location:48 → 416
    PAF-AH_p_II; Platelet-activating factor acetylhydrolase, isoform II

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    46704201..46735721 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047419359.1 → XP_047275315.1  platelet-activating factor acetylhydrolase isoform X3

  2. XM_005249408.5 → XP_005249465.1  platelet-activating factor acetylhydrolase isoform X1

    See identical proteins and their annotated locations for XP_005249465.1

    UniProtKB/Swiss-Prot
    A5HTT5, Q13093, Q15692, Q5VTT1, Q8IVA2
    UniProtKB/TrEMBL
    A8K2W6
    Conserved Domains (2) summary
    COG1073
    Location:124 → 294
    FrsA; Fermentation-respiration switch protein FrsA, has esterase activity, DUF1100 family [Signal transduction mechanisms]
    pfam03403
    Location:48 → 416
    PAF-AH_p_II; Platelet-activating factor acetylhydrolase, isoform II

  3. XM_047419360.1 → XP_047275316.1  platelet-activating factor acetylhydrolase isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    46541848..46573478 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054356419.1 → XP_054212394.1  platelet-activating factor acetylhydrolase isoform X1

    UniProtKB/Swiss-Prot
    A5HTT5, Q13093, Q15692, Q5VTT1, Q8IVA2

  2. XM_054356420.1 → XP_054212395.1  platelet-activating factor acetylhydrolase isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13093.1 GenPept UniProtKB/Swiss-Prot:Q13093

Gene LinkOut

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