Tbio PNPLA6 Neuropathy target esterase

Protein Summary

Description

Phospholipase 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. This gene encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neuronal differentiation. The protein is anchored to the cytoplasmic face of the endoplasmic reticulum in both neurons and non-neuronal cells. Mutations in this gene result in autosomal recessive spastic paraplegia, and the protein is the target for neurodegeneration induced by organophosphorus compounds and chemical warfare agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

Uniprot Accession IDs

• Q8IY17
• A6NGQ0
• B4DFB9
• B7Z7T2
• F5H5K9
• J3KQS3
• O60859
• Q86W58
• Q9UG58

Gene Name

• PNPLA6

Ensembl ID

• ENST00000221249
• ENSP00000221249
• ENSG00000032444
• ENST00000414982
• ENSP00000407509
• ENST00000450331
• ENSP00000394348
• ENST00000545201
• ENSP00000443323

Symbol

• NTE
• NTE
• sws
• BNHS
• LNMS
• OMCS
• SPG39
• NTEMND
• iPLA2delta

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
transcription factor binding site profile	0.86
protein domain	0.85
transcription factor	0.8
metabolite	0.78
interacting protein	0.74

Protein Classes

PANTHER Classes

Protein / Hydrolase / Esterase / Neuropathy Target Esterase

DTO Classes

Protein / Enzyme / Hydrolase / Esterase / Neuropathy Target Esterase

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 372.16   (req: < 5)

Gene RIFs: 37   (req: <= 3)

Antibodies: 223   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 372.16   (req: >= 5)

Gene RIFs: 37   (req: > 3)

Antibodies: 223   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 3

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0