LMPD Database

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LMP006668

UniProt Annotations

Entry Information
Gene Namepatatin-like phospholipase domain containing 6
Protein EntryPLPL6_HUMAN
UniProt IDQ8IY17
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q8IY17-1; Sequence=Displayed; Name=2; IsoId=Q8IY17-2; Sequence=VSP_026388; Name=3; IsoId=Q8IY17-3; Sequence=VSP_026389; Note=No experimental confirmation available.; Name=4; IsoId=Q8IY17-4; Sequence=VSP_046064; Note=No experimental confirmation available.; Name=5; IsoId=Q8IY17-5; Sequence=VSP_026388, VSP_046975, VSP_026389;
Catalytic Activity2-lysophosphatidylcholine + H(2)O = glycerophosphocholine + a carboxylate.
DiseaseBoucher-Neuhauser syndrome (BNHS) [MIM
DiseaseSpastic paraplegia 39, autosomal recessive (SPG39) [MIM
Enzyme RegulationInhibited by a series a OPs such as mipafox (MPX), phenyl saligenin phosphate (PSP), phenyl dipentyl phosphinate (PDPP), diisopropyl fluorophosphate and paraoxon.
FunctionPhospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Its specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy.
PtmGlycosylated.
SimilarityBelongs to the NTE family.
SimilarityContains 1 patatin domain.
SimilarityContains 3 cyclic nucleotide-binding domains.
Subcellular LocationEndoplasmic reticulum membrane ; Single-pass type I membrane protein ; Cytoplasmic side . Note=Anchored to the cytoplasmic face of the endoplasmic reticulum by its amino-terminal transmembrane segment.
Tissue SpecificityExpressed in brain, placenta, kidney, neuron and skeletal muscle.