RBP Type	Non-canonical_RBPs
Diseases	Disease
Drug	N.A.
Main interacting RNAs	N.A.
Moonlighting functions	Metabolic enzyme
Localizations	N.A.
BulkPerturb-seq

Ensembl ID	ENSG00000032444	Gene ID	10908	Accession	16268
Symbol	PNPLA6	Alias	NTE;sws;BNHS;LNMS;OMCS;SPG39;NTEMND;iPLA2delta	Full Name	patatin like phospholipase domain containing 6
Status	Confidence	Length	27761 bases	Strand	Plus strand
Position	19 : 7534004 - 7561764	RNA binding domain	N.A.
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]

Protein	Domain	Pfam ID	E-value	Domain number

Pubmed ID	Full Name	Cell	Author	Time	Doi

Pubmed ID	Title	Author	Time	Journal

Name	Transcript ID	bp	Protein	Translation ID
PNPLA6-201	ENST00000221249	4617	1327aa	ENSP00000221249
PNPLA6-208	ENST00000594754	989	No protein	-
PNPLA6-223	ENST00000601668	753	134aa	ENSP00000470608
PNPLA6-206	ENST00000594098	505	No protein	-
PNPLA6-222	ENST00000601001	866	181aa	ENSP00000472631
PNPLA6-204	ENST00000545201	4502	1300aa	ENSP00000443323
PNPLA6-214	ENST00000596515	543	38aa	ENSP00000470461
PNPLA6-202	ENST00000414982	4522	1375aa	ENSP00000407509
PNPLA6-203	ENST00000450331	4457	1327aa	ENSP00000394348
PNPLA6-221	ENST00000600942	562	153aa	ENSP00000472572
PNPLA6-205	ENST00000593924	584	117aa	ENSP00000469794
PNPLA6-220	ENST00000600737	4372	1365aa	ENSP00000473211
PNPLA6-224	ENST00000602191	542	No protein	-
PNPLA6-216	ENST00000598462	585	No protein	-
PNPLA6-211	ENST00000595264	800	267aa	ENSP00000472456
PNPLA6-207	ENST00000594551	574	192aa	ENSP00000470060
PNPLA6-217	ENST00000599311	1005	No protein	-
PNPLA6-210	ENST00000595176	999	No protein	-
PNPLA6-213	ENST00000595889	602	No protein	-
PNPLA6-209	ENST00000594864	565	No protein	-
PNPLA6-219	ENST00000599951	534	No protein	-
PNPLA6-225	ENST00000646984	672	224aa	ENSP00000496219
PNPLA6-212	ENST00000595352	563	No protein	-
PNPLA6-218	ENST00000599947	669	155aa	ENSP00000469171
PNPLA6-215	ENST00000597202	658	No protein	-

Pathway ID	Pathway Name	Source

ensgID	Trait	pValue	Pubmed ID
42982	Platelet Function Tests	1.8073100E-005	-
42983	Platelet Function Tests	1.8243500E-005	-
45129	Platelet Function Tests	1.0271100E-005	-
45130	Platelet Function Tests	1.6213600E-005	-
45131	Platelet Function Tests	1.0292800E-005	-

ensgID	SNP	Chromosome	Position	Trait	PubmedID	Or or BEAT	EFO ID

Ensembl ID	Source				Target
	Species	Protein ID	Perc_pos	Perc_id	Species	Protein ID	Perc_pos	Perc_id

Ensembl ID	Source				Target
	Species	Protein ID	Perc_pos	Perc_id	Species	Protein ID	Perc_pos	Perc_id

Go ID	Go term	No. evidence	Entries	Species	Category
GO:0004622	enables lysophospholipase activity	3	EXP,IBA,ISS	Homo_sapiens(9606)	Function
GO:0005783	is_active_in endoplasmic reticulum	2	IBA,IDA	Homo_sapiens(9606)	Component
GO:0005789	located_in endoplasmic reticulum membrane	1	TAS	Homo_sapiens(9606)	Component
GO:0005829	located_in cytosol	1	IDA	Homo_sapiens(9606)	Component
GO:0016020	located_in membrane	1	HDA	Homo_sapiens(9606)	Component
GO:0046470	involved_in phosphatidylcholine metabolic process	1	IEA	Homo_sapiens(9606)	Process
GO:0046475	involved_in glycerophospholipid catabolic process	1	TAS	Homo_sapiens(9606)	Process
GO:0102545	enables phosphatidyl phospholipase B activity	1	IEA	Homo_sapiens(9606)	Function