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Protein Page:
PLA2G6 (human)

Overview
PLA2G6 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. Defects in PLA2G6 are the cause of neurodegeneration with brain iron accumulation type 2B (NBIA2B). 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. Defects in PLA2G6 are the cause of neurodegeneration with brain iron accumulation type 2A (NBIA2A); 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. Defects in PLA2G6 are the cause of Parkinson disease type 14 (PARK14). 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. 4 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: EC 3.1.1.4; Lipid Metabolism - alpha-linolenic acid; Lipid Metabolism - arachidonic acid; Lipid Metabolism - ether lipid; Lipid Metabolism - glycerophospholipid; Lipid Metabolism - linoleic acid; Phospholipase
Chromosomal Location of Human Ortholog: 22q13.1
Cellular Component: cytoplasm; cytosol; extracellular space; microtubule organizing center
Molecular Function: hydrolase activity; phospholipase A2 activity
Biological Process: antibacterial humoral response; cardiolipin biosynthetic process
Disease: Neurodegeneration With Brain Iron Accumulation 2a; Neurodegeneration With Brain Iron Accumulation 2b; Parkinson Disease 14, Autosomal Recessive
Reference #:  O60733 (UniProtKB)
Alt. Names/Synonyms: 85 kDa calcium-independent phospholipase A2; CaI-PLA2; calcium-independent phospholipase A2; cytosolic, calcium-independent phospholipase A2; Group VI phospholipase A2; GVI; GVI PLA2; INAD1; IPLA2; IPLA2-VIA; NBIA2A; NBIA2B; PA2G6; PARK14; patatin-like phospholipase domain containing 9; phospholipase A2, group VI (cytosolic, calcium-independent); PLA2; PLA2G6; PNPLA9
Gene Symbols: PLA2G6
Molecular weight: 89,903 Da
Basal Isoelectric point: 6.86  Predict pI for various phosphorylation states
Select Structure to View Below

PLA2G6

Protein Structure Not Found.


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