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neuropathy target esterase (patatin-like phospholipase domain-containing protein 6, PNPLA6, NTE)
Function:
1) phospholipase B
2) deacylates intracellular phosphatidylcholine, generating glycerophosphocholine
3) deacylation occurs at both sn-2 & sn-1 positions
4) specific chemical modification by organophosphorus compounds leads to distal axonopathy
2-lysophosphatidylcholine + H2O glycerophosphocholine + a carboxylate
Inhibition:
- inhibited by a series a organophosphorus compounds, including mipafox, phenyl saligenin phosphate, phenyl dipentyl phosphinate, diisopropyl fluorophosphate & paraoxon
Structure:
- glycosylated
- contains 3 cyclic nucleotide-binding domains
- contains 1 patatin domain
Compartment:
- endoplasmic reticulum membrane
- anchored to the cytoplasmic face of endoplasmic reticulum by its amino-terminal transmembrane segment
Alternative splicing: named isoforms=3
Expression:
- expressed in brain, placenta, kidney, neuron & skeletal muscle
General
glycoprotein
membrane protein
patatin-like phospholipase domain-containing protein (PNPLA)
phospholipase B
Properties
SIZE: MW = 150 kD
entity length = 1366 aa
COMPARTMENT: cytoplasm
endoplasmic reticulum
MOTIF: N-glycosylation site {N11}
transmembrane domain {51-71}
Patatin {972-1138}
MOTIF: GXSXG {1003-1007}
serine residue {S1005}
Database Correlations
OMIM 603197
MORBIDMAP 603197
UniProt Q8IY17
PFAM correlations
ENZYME 3.1.1.5
References
UniProt :accession Q8IY17