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85 kD Ca+2-independent phospholipase A2; CaI-PLA2; iPLA2; group VI phospholipase A2; GVI PLA2 (PLA2G6, IPLA2)
Function:
- catalyzes the release of fatty acids from phospholipids
- implicated in
a) normal phospholipid remodeling
b) nitric oxide-induced or vasopressin-induced arachidonic acid release
c) leukotriene & prostaglandin production
- may participate in Fas mediated apoptosis
- may participate in regulating transmembrane ion flux in glucose-stimulated B-cells
- role in cardiolipin deacylation
- isoform ankyrin-iPLA2-1 & isoform ankyrin-iPLA2-2, which lack the catalytic domain, are probably involved in the negative regulation of iPLA2 activity
phosphatidylcholine + H2O = 1-acylglycerophosphocholine + a carboxylate
Structure:
- forms large oligomeric 270-350 kD structures
- contains 7 ANK repeats
Compartment:
- isoform LH-iPLA2: peripheral membrane
- isoform SH-iPLA2: cytoplasm
Alternative splicing:
- named isoforms=4
- iPLA2, SH-iPLA2, ankyrin-iPLA2-1, ankyrin-iPLA2-2
Expression:
- four different transcripts expressed in a distinct tissue distribution
Pathology:
- defects in PLA2G6 are the cause of
a) neurodegeneration with brain iron accumulation type 2A
b) neurodegeneration with brain iron accumulation type 2B
c) Parkinson disease type 14
Pharmacology:
- potential target for therapeutic intervention of Barth syndrome
General
ankyrin repeat domain protein (ANKRD)
phospholipase A2; phosphatidylcholine 2-acylhydrolase (PLA2)
phosphoprotein
Properties
SIZE: entity length = 806 aa
MW = 90 kD
COMPARTMENT: cytoplasm
MOTIF: ankyrin repeat
NAME: ankyrin repeat
SITE: 151-181
ankyrin repeat
NAME: ankyrin repeat
SITE: 185-215
ankyrin repeat
NAME: ankyrin repeat
SITE: 219-248
ankyrin repeat
NAME: ankyrin repeat
SITE: 251-281
ankyrin repeat
NAME: ankyrin repeat
SITE: 286-312
ankyrin repeat
NAME: ankyrin repeat
SITE: 316-345
ankyrin repeat
NAME: ankyrin repeat
SITE: 349-378
serine residue {S519}
Thr phosphorylation site {T587}
Database Correlations
OMIM correlations
MORBIDMAP 603604
UniProt O60733
PFAM correlations
Entrez Gene 8398
KEGG correlations
ENZYME 3.1.1.4
References
- UniProt :accession O60733
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/PLA2G6
- NIEHS-SNPs
http://egp.gs.washington.edu/data/pla2g6/