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

Summary

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: mouse all
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Genomic context

Location:: 6p12.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (46704201..46735721, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (46541848..46573478, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (46671938..46703458, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Causal Effect of Lipoprotein-Associated Phospholipase A2 Activity on Ischemic Stroke: A Mendelian Randomization Study.
Title: Causal Effect of Lipoprotein-Associated Phospholipase A2 Activity on Ischemic Stroke: A Mendelian Randomization Study.
Gender-related and PUFA-related differences in lipoprotein-associated phospholipase A2 levels in patients with type 2 diabetes and atherosclerotic cardiovascular disease.
Title: Gender-related and PUFA-related differences in lipoprotein-associated phospholipase A2 levels in patients with type 2 diabetes and atherosclerotic cardiovascular disease.
The relationships between biological novel biomarkers Lp-PLA2 and CTRP-3 and CVD in patients with type 2 diabetes mellitus.
Title: The relationships between biological novel biomarkers Lp-PLA(2) and CTRP-3 and CVD in patients with type 2 diabetes mellitus.
Association of 25-hydroxyvitamin D, lipoprotein-associated phospholipase A2 and asymptomatic coronary artery disease in patients with type 2 diabetes mellitus.
Title: Association of 25-hydroxyvitamin D, lipoprotein-associated phospholipase A2 and asymptomatic coronary artery disease in patients with type 2 diabetes mellitus.
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.
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.
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.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (288)

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	not available

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 EBI GWAS CatalogPubMed
Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH70216 (e-PCR)
- UniSTS:47196

RH71209 (e-PCR)
- UniSTS:88013

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
enables protein binding	IPI Inferred from Physical Interaction 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

EC 3.1.1.47

NP_005075.3

EC 3.1.1.47

XP_005249465.1

EC 3.1.1.47

XP_047275315.1

EC 3.1.1.47

XP_047275316.1

EC 3.1.1.47

XP_054212394.1

EC 3.1.1.47

XP_054212395.1

EC 3.1.1.47

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

NG_016204.1 RefSeqGene

Range

5319..36493

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

46704201..46735721 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A8K2W6
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
XM_047419360.1 → XP_047275316.1 platelet-activating factor acetylhydrolase isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

46541848..46573478 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

A5HTT5, Q13093, Q15692, Q5VTT1, Q8IVA2

UniProtKB/TrEMBL

A8K2W6
XM_054356420.1 → XP_054212395.1 platelet-activating factor acetylhydrolase isoform X2