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PNPLA6
HPA
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  • PNPLA6
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

PNPLA6
Synonyms iPLA2delta, NTE, SPG39, sws
Gene descriptioni

Full gene name according to HGNC.

Patatin like phospholipase domain containing 6
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Enzymes
Human disease related genes
Metabolic proteins
Potential drug targets
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Membrane, Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 19
Cytoband p13.2
Chromosome location (bp) 7534004 - 7561764
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

14
Ensembl ENSG00000032444 (version 109)
Entrez gene 10908
HGNC HGNC:16268
UniProt Q8IY17 (UniProt - Evidence at protein level)
neXtProt NX_Q8IY17
GeneCards PNPLA6
Antibodypedia PNPLA6 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Catalyzes the hydrolysis of several naturally occurring membrane-associated lipids 1. Hydrolyzes lysophospholipids and monoacylglycerols, preferring the 1-acyl to the 2-acyl isomer. Does not catalyze hydrolysis of di-or triacylglycerols or fatty acid amides 2.... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Hydrolase
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Lipid degradation, Lipid metabolism
Gene summary (Entrez)i

Useful information about the gene from Entrez

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]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
PNPLA6-201
ENSP00000221249
ENST00000221249
Q8IY17
[Direct mapping] Patatin-like phospholipase domain-containing protein 6
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Metabolic proteins
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Potential drug targets
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Other nervous and sensory system diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0003824 [catalytic activity]
GO:0004622 [lysophospholipase activity]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005829 [cytosol]
GO:0006629 [lipid metabolic process]
GO:0016020 [membrane]
GO:0016042 [lipid catabolic process]
GO:0016787 [hydrolase activity]
GO:0046470 [phosphatidylcholine metabolic process]
GO:0046475 [glycerophospholipid catabolic process]
GO:0102545 [phosphatidyl phospholipase B activity]
Show all
1327 aa
146.2 kDa
No 1
PNPLA6-202
ENSP00000407509
ENST00000414982
Q8IY17
[Direct mapping] Patatin-like phospholipase domain-containing protein 6
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Metabolic proteins
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Potential drug targets
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Other nervous and sensory system diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0003824 [catalytic activity]
GO:0004622 [lysophospholipase activity]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005829 [cytosol]
GO:0006629 [lipid metabolic process]
GO:0016020 [membrane]
GO:0016042 [lipid catabolic process]
GO:0016787 [hydrolase activity]
GO:0046470 [phosphatidylcholine metabolic process]
GO:0046475 [glycerophospholipid catabolic process]
GO:0102545 [phosphatidyl phospholipase B activity]
Show all
1375 aa
151 kDa
No 1
PNPLA6-203
ENSP00000394348
ENST00000450331
Q8IY17
[Direct mapping] Patatin-like phospholipase domain-containing protein 6
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Metabolic proteins
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Potential drug targets
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Other nervous and sensory system diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0003824 [catalytic activity]
GO:0004622 [lysophospholipase activity]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005829 [cytosol]
GO:0006629 [lipid metabolic process]
GO:0016020 [membrane]
GO:0016042 [lipid catabolic process]
GO:0016787 [hydrolase activity]
GO:0046470 [phosphatidylcholine metabolic process]
GO:0046475 [glycerophospholipid catabolic process]
GO:0102545 [phosphatidyl phospholipase B activity]
Show all
1327 aa
146.2 kDa
No 1
PNPLA6-204
ENSP00000443323
ENST00000545201
Q8IY17
[Direct mapping] Patatin-like phospholipase domain-containing protein 6
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Metabolic proteins
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Potential drug targets
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Other nervous and sensory system diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0003824 [catalytic activity]
GO:0004622 [lysophospholipase activity]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005829 [cytosol]
GO:0006629 [lipid metabolic process]
GO:0016020 [membrane]
GO:0016042 [lipid catabolic process]
GO:0016787 [hydrolase activity]
GO:0046470 [phosphatidylcholine metabolic process]
GO:0046475 [glycerophospholipid catabolic process]
GO:0102545 [phosphatidyl phospholipase B activity]
Show all
1300 aa
143.4 kDa
No 1
PNPLA6-205
ENSP00000469794
ENST00000593924
M0QYF5
[Direct mapping] Patatin-like phospholipase domain-containing protein 6
Show all
Metabolic proteins
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Other nervous and sensory system diseases
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0016020 [membrane]
Show all
117 aa
13.2 kDa
No 1
PNPLA6-207
ENSP00000470060
ENST00000594551
M0QYT1
[Direct mapping] Patatin-like phospholipase domain-containing protein 6
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Other nervous and sensory system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
192 aa
21.4 kDa
No 0
PNPLA6-211
ENSP00000472456
ENST00000595264
M0R2C2
[Direct mapping] Patatin-like phospholipase domain-containing protein 6
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Other nervous and sensory system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
267 aa
29.1 kDa
No 0
PNPLA6-214
ENSP00000470461
ENST00000596515
M0QZD1
[Direct mapping] Patatin-like phospholipase domain-containing protein 6
Show all
Metabolic proteins
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Other nervous and sensory system diseases
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0016020 [membrane]
Show all
38 aa
3.9 kDa
No 1
PNPLA6-218
ENSP00000469171
ENST00000599947
M0QXH7
[Direct mapping] Patatin-like phospholipase domain-containing protein 6
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Other nervous and sensory system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
155 aa
17 kDa
No 0
PNPLA6-220
ENSP00000473211
ENST00000600737
A0A384DVU0
[Direct mapping] Patatin-like phospholipase domain-containing protein 6
Show all
Metabolic proteins
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Other nervous and sensory system diseases
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0003824 [catalytic activity]
GO:0004622 [lysophospholipase activity]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005829 [cytosol]
GO:0006629 [lipid metabolic process]
GO:0016020 [membrane]
GO:0016042 [lipid catabolic process]
GO:0016787 [hydrolase activity]
GO:0046470 [phosphatidylcholine metabolic process]
GO:0102545 [phosphatidyl phospholipase B activity]
Show all
1365 aa
149.9 kDa
No 1
PNPLA6-221
ENSP00000472572
ENST00000600942
M0R2H4
[Direct mapping] Patatin-like phospholipase domain-containing protein 6
Show all
Metabolic proteins
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Other nervous and sensory system diseases
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0016020 [membrane]
Show all
153 aa
17.2 kDa
No 1
PNPLA6-222
ENSP00000472631
ENST00000601001
M0R2K2
[Direct mapping] Patatin-like phospholipase domain-containing protein 6
Show all
Metabolic proteins
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Other nervous and sensory system diseases
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0016020 [membrane]
Show all
181 aa
20.5 kDa
No 1
PNPLA6-223
ENSP00000470608
ENST00000601668
M0QZK5
[Direct mapping] Patatin-like phospholipase domain-containing protein 6
Show all
Metabolic proteins
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Other nervous and sensory system diseases
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0016020 [membrane]
Show all
134 aa
14.9 kDa
No 1
PNPLA6-225
ENSP00000496219
ENST00000646984
A0A2R8Y7E1
[Direct mapping] Patatin-like phospholipase domain-containing protein 6
Show all
Metabolic proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
   Other nervous and sensory system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0004622 [lysophospholipase activity]
GO:0006629 [lipid metabolic process]
GO:0016042 [lipid catabolic process]
GO:0016787 [hydrolase activity]
GO:0046470 [phosphatidylcholine metabolic process]
Show all
224 aa
24.4 kDa
No 0

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