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MGP003543

UniProt Annotations

Entry Information

Gene Name	phospholipase A2, group VI (cytosolic, calcium-independent)
Protein Entry	PLPL9_HUMAN
UniProt ID	O60733
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=4; Name=LH-iPLA2; IsoId=O60733-1; Sequence=Displayed; Name=SH-iPLA2; IsoId=O60733-2; Sequence=VSP_000278; Name=Ankyrin-iPLA2-1; IsoId=O60733-3; Sequence=VSP_000281, VSP_000282; Name=Ankyrin-iPLA2-2; IsoId=O60733-4; Sequence=VSP_000277, VSP_000279, VSP_000280;
Catalytic Activity	Phosphatidylcholine + H(2)O = 1- acylglycerophosphocholine + a carboxylate.
Disease	Neurodegeneration with brain iron accumulation 2A (NBIA2A) [MIM:256600]: A neurodegenerative disease characterized by pathologic axonal swelling and spheroid bodies in the central nervous system. Onset is within the first 2 years of life with death by age 10 years. {ECO:0000269\|PubMed:16783378, ECO:0000269\|PubMed:17033970, ECO:0000269\|PubMed:23749988}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Neurodegeneration with brain iron accumulation 2B (NBIA2B) [MIM:610217]: A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by progressive extrapyramidal dysfunction leading to rigidity, dystonia, dysarthria and sensorimotor impairment. {ECO:0000269\|PubMed:16783378}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Parkinson disease 14 (PARK14) [MIM:612953]: An adult- onset progressive neurodegenerative disorder characterized by parkinsonism, dystonia, severe cognitive decline, cerebral and cerebellar atrophy and absent iron in the basal ganglia on magnetic resonance imaging. {ECO:0000269\|PubMed:18570303}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme Regulation	Inhibited by calcium-activated calmodulin. {ECO:0000250}.
Function	Catalyzes the release of fatty acids from phospholipids. It has been implicated in normal phospholipid remodeling, nitric oxide-induced or vasopressin-induced arachidonic acid release and in leukotriene and prostaglandin production. May participate in fas mediated apoptosis and in regulating transmembrane ion flux in glucose-stimulated B-cells. Has a role in cardiolipin (CL) deacylation. Required for both speed and directionality of monocyte MCP1/CCL2-induced chemotaxis through regulation of F- actin polymerization at the pseudopods.
Function	Isoform ankyrin-iPLA2-1 and isoform ankyrin-iPLA2-2, which lack the catalytic domain, are probably involved in the negative regulation of iPLA2 activity.
Pharmaceutical	Potential target for therapeutic intervention of Barth syndrome.
Similarity	Contains 1 patatin domain. {ECO:0000305}.
Similarity	Contains 7 ANK repeats. {ECO:0000255\|PROSITE- ProRule:PRU00023}.
Subcellular Location	Isoform LH-iPLA2: Membrane; Peripheral membrane protein. Note=Recruited to the membrane-enriched pseudopod upon MCP1/CCL2 stimulation in monocytes.
Subcellular Location	Isoform SH-iPLA2: Cytoplasm.
Subunit	Forms large oligomeric 270-350 kDa structures.
Tissue Specificity	Four different transcripts were found to be expressed in a distinct tissue distribution.
Web Resource	Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/pla2g6/";