PNPLA6

GENE INFORMATION

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Gene name

PNPLA6 (HGNC Symbol)

Synonyms

iPLA2delta, NTE, sws

Description

patatin-like phospholipase domain containing 6 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

19 (Chromosome progress)

Cytoband

p13.2

Chromosome location (bp)

7598890 - 7626650

Ensembl

ENSG00000032444 (version 73.37)

Entrez gene

10908

UniProt

Q8IY17 (UniProt - Evidence at protein level)

neXtProt

NX_Q8IY17

Antibodypedia

PNPLA6 antibodies
 

PROTEIN VIEW

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PNPLA6-001
 
PNPLA6-002
 
PNPLA6-003
 
PNPLA6-004
 
PNPLA6-005
 
PNPLA6-008
 
PNPLA6-009
 
PNPLA6-010
 
PNPLA6-011
 
PNPLA6-012
 
PNPLA6-015
 
PNPLA6-016
 
PNPLA6-024
 
 » 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PNPLA6-001 ENSP00000221249
ENST00000221249
Q8IY17
Show all »
Show » Show » 1327 146.2 No 1
PNPLA6-002 ENSP00000407509
ENST00000414982
Q8IY17
Show all »
Show » Show » 1375 151 No 1
PNPLA6-003 ENSP00000443323
ENST00000545201
Q8IY17
Show all »
Show » Show » 1300 143.4 No 1
PNPLA6-004 ENSP00000394348
ENST00000450331
Q8IY17
Show all »
Show » Show » 1327 146.2 No 1
PNPLA6-005 ENSP00000470608
ENST00000601668
M0QZK5
Show all »
Show » 134 14.9 No 1
PNPLA6-008 ENSP00000469794
ENST00000593924
M0QYF5
Show all »
Show » 118 13.2 No 1
PNPLA6-009 ENSP00000472572
ENST00000600942
M0R2H4
Show all »
Show » 154 17.3 No 1
PNPLA6-010 ENSP00000470461
ENST00000596515
M0QZD1
Show all »
Show » 38 3.9 No 1
PNPLA6-011 ENSP00000472631
ENST00000601001
M0R2K2
Show all »
Show » 181 20.5 No 1
PNPLA6-012 ENSP00000473211
ENST00000600737
Q8IY17
Show all »
Show » Show » 1365 149.9 No 1
PNPLA6-015 ENSP00000470060
ENST00000594551
192 21.4 No 0
PNPLA6-016 ENSP00000472456
ENST00000595264
267 29.1 No 0
PNPLA6-024 ENSP00000469171
ENST00000599947
155 17 No 0