Human Gene PLA2G7 (ENST00000274793.12_7) from GENCODE V47lift37
  Description: phospholipase A2 group VII, transcript variant 1 (from RefSeq NM_005084.4)
Gencode Transcript: ENST00000274793.12_7
Gencode Gene: ENSG00000146070.17_9
Transcript (Including UTRs)
   Position: hg19 chr6:46,671,938-46,703,112 Size: 31,175 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr6:46,672,297-46,690,628 Size: 18,332 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:46,671,938-46,703,112)mRNA (may differ from genome)Protein (441 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PAFA_HUMAN
DESCRIPTION: RecName: Full=Platelet-activating factor acetylhydrolase; Short=PAF acetylhydrolase; EC=3.1.1.47; AltName: Full=1-alkyl-2-acetylglycerophosphocholine esterase; AltName: Full=2-acetyl-1-alkylglycerophosphocholine esterase; AltName: Full=Group-VIIA phospholipase A2; Short=gVIIA-PLA2; AltName: Full=LDL-associated phospholipase A2; Short=LDL-PLA(2); AltName: Full=PAF 2-acylhydrolase; Flags: Precursor;
FUNCTION: Modulates the action of platelet-activating factor (PAF) by hydrolyzing the sn-2 ester bond to yield the biologically inactive lyso-PAF. Has a specificity for substrates with a short residue at the sn-2 position. It is inactive against long-chain phospholipids.
CATALYTIC ACTIVITY: 1-alkyl-2-acetyl-sn-glycero-3-phosphocholine + H(2)O = 1-alkyl-sn-glycero-3-phosphocholine + acetate.
SUBCELLULAR LOCATION: Secreted, extracellular space.
TISSUE SPECIFICITY: Plasma.
DISEASE: Defects in PLA2G7 are the cause of platelet-activating factor acetylhydrolase deficiency (PAFAD) [MIM:614278]. An enzymatic deficiency that results in exacerbated bodily response to inflammatory agents. Asthmatic individuals affected by this condition may manifest severe respiratory symptoms.
DISEASE: Defects in PLA2G7 are a cause of susceptibility to asthma (ASTHMA) [MIM:600807]. The most common chronic disease affecting children and young adults. It is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment. It is characterized by recurrent attacks of paroxysmal dyspnea, with weezing due to spasmodic contraction of the bronchi. Note=PLA2G7 variants can be a risk factor for the development of asthma and PLA2G7 may act as a modifier gene that modulates the severity of this disease.
DISEASE: Defects in PLA2G7 are a cause of susceptibility to atopic hypersensitivity (ATOPY) [MIM:147050]. A condition characterized by predisposition to develop hypersensitivity reactions. Atopic individuals can develop eczema, allergic rhinitis and allergic asthma.
SIMILARITY: Belongs to the AB hydrolase superfamily. Lipase family.
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/pla2g7/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PLA2G7
Diseases sorted by gene-association score: platelet-activating factor acetylhydrolase deficiency* (1253), atopy* (333), asthma* (191), asthma susceptibility, pla2g7-related* (100), acute respiratory distress syndrome (11), isolated 17-linked lissencephaly (10), intracranial thrombosis (6), perinatal necrotizing enterocolitis (6), lipoprotein lipase deficiency (5), hyperalphalipoproteinemia (4), coronary artery disease (4), vascular disease (3), obesity (2), myocardial infarction (2), hypercholesterolemia, familial (1), stroke, ischemic (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.20 RPKM in Spleen
Total median expression: 43.89 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -106.50230-0.463 Picture PostScript Text
3' UTR -57.40359-0.160 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016715 - Ac_Ohase_PAF
IPR005065 - PAF_acetylhydro

Pfam Domains:
PF00326 - Prolyl oligopeptidase family
PF00561 - alpha/beta hydrolase fold
PF03403 - Platelet-activating factor acetylhydrolase, isoform II
PF12740 - Chlorophyllase enzyme

SCOP Domains:
48498 - Tetracyclin repressor-like, C-terminal domain
53383 - PLP-dependent transferases
53474 - alpha/beta-Hydrolases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3D59 - X-ray MuPIT 3D5E - X-ray MuPIT 3F96 - X-ray MuPIT 3F97 - X-ray MuPIT 3F98 - X-ray MuPIT 3F9C - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q13093
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003847 1-alkyl-2-acetylglycerophosphocholine esterase activity
GO:0005543 phospholipid binding
GO:0016787 hydrolase activity
GO:0016788 hydrolase activity, acting on ester bonds
GO:0047499 calcium-independent phospholipase A2 activity

Biological Process:
GO:0006629 lipid metabolic process
GO:0016042 lipid catabolic process
GO:0034374 low-density lipoprotein particle remodeling
GO:0034440 lipid oxidation
GO:0034441 plasma lipoprotein particle oxidation
GO:0046469 platelet activating factor metabolic process
GO:0050729 positive regulation of inflammatory response
GO:0090026 positive regulation of monocyte chemotaxis

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0034362 low-density lipoprotein particle


-  Descriptions from all associated GenBank mRNAs
  BC025674 - Homo sapiens cDNA clone IMAGE:5203018, containing frame-shift errors.
AK290381 - Homo sapiens cDNA FLJ76248 complete cds, highly similar to Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), mRNA.
BC038452 - Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma), mRNA (cDNA clone MGC:46165 IMAGE:5216829), complete cds.
U24577 - Human LDL-phospholipase A2 mRNA, complete cds.
U20157 - Human platelet-activating factor acetylhydrolase mRNA, complete cds.
HQ448549 - Synthetic construct Homo sapiens clone IMAGE:100071985; CCSB011150_01 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7) gene, encodes complete protein.
KJ897795 - Synthetic construct Homo sapiens clone ccsbBroadEn_07189 PLA2G7 gene, encodes complete protein.
KR711006 - Synthetic construct Homo sapiens clone CCSBHm_00018923 PLA2G7 (PLA2G7) mRNA, encodes complete protein.
KR711007 - Synthetic construct Homo sapiens clone CCSBHm_00018925 PLA2G7 (PLA2G7) mRNA, encodes complete protein.
KR711008 - Synthetic construct Homo sapiens clone CCSBHm_00018928 PLA2G7 (PLA2G7) mRNA, encodes complete protein.
CU691578 - Synthetic construct Homo sapiens gateway clone IMAGE:100021168 5' read PLA2G7 mRNA.
AK294471 - Homo sapiens cDNA FLJ50138 complete cds, highly similar to Platelet-activating factor acetylhydrolase precursor (EC 3.1.1.47).
AK297066 - Homo sapiens cDNA FLJ52187 complete cds, highly similar to Platelet-activating factor acetylhydrolaseprecursor (EC 3.1.1.47).
LF210842 - JP 2014500723-A/18345: Polycomb-Associated Non-Coding RNAs.
LF341474 - JP 2014500723-A/148977: Polycomb-Associated Non-Coding RNAs.
JD442098 - Sequence 423122 from Patent EP1572962.
MA446419 - JP 2018138019-A/18345: Polycomb-Associated Non-Coding RNAs.
MA577051 - JP 2018138019-A/148977: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q13093 (Reactome details) participates in the following event(s):

R-HSA-9023619 Platelet-activating factor acetylhydrolase (PLA2G7) hydrolyzes acyl Ghrelin
R-HSA-422085 Synthesis, secretion, and deacylation of Ghrelin
R-HSA-2980736 Peptide hormone metabolism
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: A5HTT5, ENST00000274793.1, ENST00000274793.10, ENST00000274793.11, ENST00000274793.2, ENST00000274793.3, ENST00000274793.4, ENST00000274793.5, ENST00000274793.6, ENST00000274793.7, ENST00000274793.8, ENST00000274793.9, NM_005084, PAFAH, PAFA_HUMAN, Q13093, Q15692, Q5VTT1, Q8IVA2, uc317jgl.1, uc317jgl.2
UCSC ID: ENST00000274793.12_7
RefSeq Accession: NM_005084.4
Protein: Q13093 (aka PAFA_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.