Property Summary

NCBI Gene PubMed Count 40
Grant Count 87
R01 Count 38
Funding $24,379,346.14
PubMed Score 435.31
PubTator Score 275.75

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
osteosarcoma -1.535 0.000
non-small cell lung cancer -1.549 0.000
diabetes mellitus -1.100 0.002
group 3 medulloblastoma -1.200 0.012

Synonym

Accession Q8IY17 A6NGQ0 B4DFB9 B7Z7T2 F5H5K9 J3KQS3 O60859 Q86W58 Q9UG58
Symbols NTE
sws
BNHS
LNMS
OMCS
SPG39
NTEMND
iPLA2delta

Gene

PANTHER Protein Class (2)

 GO Function (1)

MLP Assay (3)

AID Type Active / Inconclusive / Inactive Description
651979 other 1 / 0 / 0 Late stage assay provider results from the probe development effort to identify selective inhibitors of LYPLA1: LCMS-based cell-based Activity-Based Protein Profiling (ABPP) SILAC selectivity analysis in situ
651980 other 1 / 0 / 0 Late stage assay provider results from the probe development effort to identify selective inhibitors of LYPLA2: LCMS-based cell-based Activity-Based Protein Profiling (ABPP) SILAC selectivity analysis in situ
743137 other 1 / 0 / 0 Late stage assay provider results from the extended probe development effort to identify inhibitors of LYPLA1 and LYPLA2: LCMS-based cell-based Activity-Based Protein Profiling (ABPP) SILAC selectivity analysis

Gene RIF (25)

PMID Text
26714052 Data indicate two novel homozygous mutations (one frameshift and one missense mutation) detected in CYP7B1 (SPG5A), while no disease-causing mutation was identified for PNPLA6 (SPG39) and C19orf12 (SPG43).
26671664 inducible, neuron-specific expression of full-length human wildtype NTE reduces vacuole formation and substantially rescues mobility.
25631098 we found a novel compound heterozygous mutation and a novel homozygous one in the PNPLA6 gene in two Japanese patients with BNS.
25574898 PNPLA6 has a role in photoreceptor survival; its mutations are linked to photoreceptor degeneration and various forms of childhood blindness
25480986 Eight mutations in six families with Oliver-McFarlane or Laurence-Moon syndrome were identified in the PNPLA6 gene, which encodes neuropathy target esterase.
25267340 Data confirm PNPLA6 mutations as the leading cause of Boucher-Neuhauser syndrome and suggest inquiring about a history of hypogonadism or visual changes in patients presenting with late-onset gait ataxia.
25033069 These results suggest that hypogonadism-dependent alteration of phospholipid homeostasis in Gordon Holmes syndrome causes both neurodegeneration and impaired LH release from pituitary gonadotropes, leading to the disease.
24355708 PNPLA6 influences a manifold of neuronal systems, from the retina to the cerebellum, upper and lower motor neurons and the neuroendocrine system
23418070 The activity of NTE was higher in Sick building syndrome patients compared with controls. Population with an AA genotype of a single nucleotide polymorphism, rs480208, in intron 21 of the PNPLA6 gene strongly reduced the activity of NTE.
22903185 Neuronal phospholipid deacylation is essential for axonal and synaptic integrity through the action of iPLA2 and NTE.
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AA Sequence

MGTSSHGLATNSSGAKVAERDGFQDVLAPGEGSAGRICGAQPVPFVPQVLGVMIGAGVAVVVTAVLILLV      1 - 70
VRRLRVPKTPAPDGPRYRFRKRDKVLFYGRKIMRKVSQSTSSLVDTSVSATSRPRMRKKLKMLNIAKKIL     71 - 140
RIQKETPTLQRKEPPPAVLEADLTEGDLANSHLPSEVLYMLKNVRVLGHFEKPLFLELCRHMVFQRLGQG    141 - 210
DYVFRPGQPDASIYVVQDGLLELCLPGPDGKECVVKEVVPGDSVNSLLSILDVITGHQHPQRTVSARAAR    211 - 280
DSTVLRLPVEAFSAVFTKYPESLVRVVQIIMVRLQRVTFLALHNYLGLTNELFSHEIQPLRLFPSPGLPT    281 - 350
RTSPVRGSKRMVSTSATDEPRETPGRPPDPTGAPLPGPTGDPVKPTSLETPSAPLLSRCVSMPGDISGLQ    351 - 420
GGPRSDFDMAYERGRISVSLQEEASGGSLAAPARTPTQEPREQPAGACEYSYCEDESATGGCPFGPYQGR    421 - 490
QTSSIFEAAKQELAKLMRIEDPSLLNSRVLLHHAKAGTIIARQGDQDVSLHFVLWGCLHVYQRMIDKAED    491 - 560
VCLFVAQPGELVGQLAVLTGEPLIFTLRAQRDCTFLRISKSDFYEIMRAQPSVVLSAAHTVAARMSPFVR    561 - 630
QMDFAIDWTAVEAGRALYRQGDRSDCTYIVLNGRLRSVIQRGSGKKELVGEYGRGDLIGVVEALTRQPRA    631 - 700
TTVHAVRDTELAKLPEGTLGHIKRRYPQVVTRLIHLLSQKILGNLQQLQGPFPAGSGLGVPPHSELTNPA    701 - 770
SNLATVAILPVCAEVPMVAFTLELQHALQAIGPTLLLNSDIIRARLGASALDSIQEFRLSGWLAQQEDAH    771 - 840
RIVLYQTDASLTPWTVRCLRQADCILIVGLGDQEPTLGQLEQMLENTAVRALKQLVLLHREEGAGPTRTV    841 - 910
EWLNMRSWCSGHLHLRCPRRLFSRRSPAKLHELYEKVFSRRADRHSDFSRLARVLTGNTIALVLGGGGAR    911 - 980
GCSHIGVLKALEEAGVPVDLVGGTSIGSFIGALYAEERSASRTKQRAREWAKSMTSVLEPVLDLTYPVTS    981 - 1050
MFTGSAFNRSIHRVFQDKQIEDLWLPYFNVTTDITASAMRVHKDGSLWRYVRASMTLSGYLPPLCDPKDG   1051 - 1120
HLLMDGGYINNLPADIARSMGAKTVIAIDVGSQDETDLSTYGDSLSGWWLLWKRLNPWADKVKVPDMAEI   1121 - 1190
QSRLAYVSCVRQLEVVKSSSYCEYLRPPIDCFKTMDFGKFDQIYDVGYQYGKAVFGGWSRGNVIEKMLTD   1191 - 1260
RRSTDLNESRRADVLAFPSSGFTDLAEIVSRIEPPTSYVSDGCADGEESDCLTEYEEDAGPDCSRDEGGS   1261 - 1330
PEGASPSTASEMEEEKSILRQRRCLPQEPPGSATDA                                     1331 - 1366
//

Text Mined References (48)

PMID Year Title
26714052 2016 Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia.
26671664 2015 Delayed Induction of Human NTE (PNPLA6) Rescues Neurodegeneration and Mobility Defects of Drosophila swiss cheese (sws) Mutants.
25631098 2015 Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome.
25574898 2015 Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.
25480986 2015 Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
25267340 2014 Compound heterozygous PNPLA6 mutations cause Boucher-Neuhäuser syndrome with late-onset ataxia.
25033069 2014 Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome.
24355708 2014 PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23418070 2014 Association of sick building syndrome with neuropathy target esterase (NTE) activity in Japanese.
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