ID:PLPL9_HUMAN DESCRIPTION: RecName: Full=85/88 kDa calcium-independent phospholipase A2; Short=CaI-PLA2; EC=3.1.1.4; AltName: Full=Group VI phospholipase A2; Short=GVI PLA2; AltName: Full=Intracellular membrane-associated calcium-independent phospholipase A2 beta; Short=iPLA2-beta; AltName: Full=Patatin-like phospholipase domain-containing protein 9; Short=PNPLA9; 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. CATALYTIC ACTIVITY: Phosphatidylcholine + H(2)O = 1- acylglycerophosphocholine + a carboxylate. ENZYME REGULATION: Inhibited by calcium-activated calmodulin (By similarity). SUBUNIT: Forms large oligomeric 270-350 kDa structures. 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. TISSUE SPECIFICITY: Four different transcripts were found to be expressed in a distinct tissue distribution. DISEASE: Defects in PLA2G6 are the cause of neurodegeneration with brain iron accumulation type 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. DISEASE: Defects in PLA2G6 are the cause of neurodegeneration with brain iron accumulation type 2A (NBIA2A) [MIM:256600]; also known as Seitelberger disease. NBIA2A is 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. DISEASE: Defects in PLA2G6 are the cause of Parkinson disease type 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. PHARMACEUTICAL: Potential target for therapeutic intervention of Barth syndrome. SIMILARITY: Contains 7 ANK repeats. SIMILARITY: Contains 1 patatin domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PLA2G6"; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/pla2g6/";
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.
ModBase Predicted Comparative 3D Structure on O60733
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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.
Biological Process: GO:0001934 positive regulation of protein phosphorylation GO:0006629 lipid metabolic process GO:0006935 chemotaxis GO:0007204 positive regulation of cytosolic calcium ion concentration GO:0007613 memory GO:0008152 metabolic process GO:0014832 urinary bladder smooth muscle contraction GO:0016042 lipid catabolic process GO:0019731 antibacterial humoral response GO:0032049 cardiolipin biosynthetic process GO:0034976 response to endoplasmic reticulum stress GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus GO:0036151 phosphatidylcholine acyl-chain remodeling GO:0036152 phosphatidylethanolamine acyl-chain remodeling GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis GO:0045921 positive regulation of exocytosis GO:0051967 negative regulation of synaptic transmission, glutamatergic GO:0060135 maternal process involved in female pregnancy GO:0090037 positive regulation of protein kinase C signaling GO:0090200 positive regulation of release of cytochrome c from mitochondria GO:0090238 positive regulation of arachidonic acid secretion GO:1901339 regulation of store-operated calcium channel activity GO:2000304 positive regulation of ceramide biosynthetic process
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
