PLA2G7
Platelet-activating factor acetylhydrolase
Also known as: LDL-PLA2, PAFA_HUMAN, PAFAH
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q13093
- Gene
- PLA2G7
- Ensembl
- ENSG00000146070
- Chromosome
- 6
- Canonical length
- 441 aa
- Protein class
- Candidate cardiovascular disease genes, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted secreted proteins
- Secretome location
- Secreted to blood
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
441 residues, UniProt reviewed canonical sequence.
>Q13093|PLA2G7
1 MVPPKLHVLF CLCGCLAVVY PFDWQYINPV AHMKSSAWVN KIQVLMAAAS FGQTKIPRGN
61 GPYSVGCTDL MFDHTNKGTF LRLYYPSQDN DRLDTLWIPN KEYFWGLSKF LGTHWLMGNI
121 LRLLFGSMTT PANWNSPLRP GEKYPLVVFS HGLGAFRTLY SAIGIDLASH GFIVAAVEHR
181 DRSASATYYF KDQSAAEIGD KSWLYLRTLK QEEETHIRNE QVRQRAKECS QALSLILDID
241 HGKPVKNALD LKFDMEQLKD SIDREKIAVI GHSFGGATVI QTLSEDQRFR CGIALDAWMF
301 PLGDEVYSRI PQPLFFINSE YFQYPANIIK MKKCYSPDKE RKMITIRGSV HQNFADFTFA
361 TGKIIGHMLK LKGDIDSNVA IDLSNKASLA FLQKHLGLHK DFDQWDCLIE GDDENLIPGT
421 NINTTNQHIM LQNSSGIEKY NLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PLA2G7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.26
- Highest tissue expression
- 26 nTPM
Expression across tissuesHPA
Tissue
- spleen: 26 nTPM
- lymph node: 25 nTPM
- placenta: 22 nTPM
- appendix: 22 nTPM
- parathyroid gland: 20 nTPM
- thyroid gland: 19 nTPM
Single-cell type
- hofbauer cells: 504 nCPM
- decidual stromal cells: 124 nCPM
- macrophages: 87 nCPM
- kupffer cells: 83 nCPM
- prostatic glandular cells: 72 nCPM
- retinal pigment epithelial cells: 55 nCPM
Immune cell
- classical monocyte: 43 nTPM
- myeloid DC: 14 nTPM
- total PBMC: 12 nTPM
- intermediate monocyte: 9.2 nTPM
- neutrophil: 0.5 nTPM
- non-classical monocyte: 0.4 nTPM
Brain region
- thalamus: 21 nTPM
- white matter: 18 nTPM
- pons: 10 nTPM
- medulla oblongata: 9.8 nTPM
- basal ganglia: 8.9 nTPM
- spinal cord: 7.5 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PLA2G7.
Disease | AllUniProt
Conditions PLA2G7 is implicated in, by any mechanism.
- Platelet-activating factor acetylhydrolase deficiency (PAFAD) MIM:614278
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 118 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Platelet-activating factor acetylhydrolase deficiency
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.71
- gnomAD pLI
- 0
- gnomAD missense Z
- -1.05
- DepMap mean gene effect
- 0
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- lipid oxidation
- low-density lipoprotein particle remodeling
- peptide hormone processing
- phosphatidylcholine catabolic process
- platelet activating factor catabolic process
- platelet activating factor metabolic process
- positive regulation of inflammatory response
- positive regulation of monocyte chemotaxis
- plasma lipoprotein particle oxidation
Molecular functions
- 1-alkyl-2-acetylglycerophosphocholine esterase activity
- calcium-independent phospholipase A2 activity
- hydrolase activity, acting on ester bonds
- phospholipid binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PLA2G7 as an antibody target. Whether an autoantibody or antibody against PLA2G7 could matter depends on whether native PLA2G7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PLA2G7 is annotated as secreted, so native PLA2G7 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label PLA2G7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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