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Gene name

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In atlas

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Reliability

Reliability

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PNPLA6
  • TISSUE

  • CELL

  • PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation


Dictionary


Tissue proteome

GENERAL INFORMATION

Gene name

PNPLA6

Gene description

Patatin-like phospholipase domain containing 6

Protein class

Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

13
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

Evidence at protein level

Protein expression

General nuclear and cytoplasmic expression.

DATA RELIABILITY

Data reliability
description

Antibody staining mainly consistent with RNA expression data. Sub cellular location is contradicted by external data.

Reliability score

Uncertain based on 1 antibody.
HPA007522
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM) Protein expression (score)
Brain
Cerebral cortex
Hippocampus
N/A
Caudate
N/A
Cerebellum
N/A
Endocrine tissues
Thyroid gland
Parathyroid gland
N/A
Adrenal gland
Bone marrow & immune system
Appendix
Bone marrow
Lymph node
Tonsil
Spleen
Muscle tissues
Heart muscle
Skeletal muscle
Smooth muscle
Lung
Nasopharynx
N/A
Bronchus
N/A
Lung
Liver & gallbladder
Liver
Gallbladder
Pancreas
Pancreas
Gastrointestinal tract
Oral mucosa
N/A
Salivary gland
Esophagus
Stomach
Duodenum
Small intestine
Colon
Rectum
Kidney & urinary bladder
Kidney
Urinary bladder
Male tissues
Testis
Epididymis
Prostate
Seminal vesicle
Female tissues
Breast
Vagina
N/A
Cervix, uterine
Endometrium
Fallopian tube
Ovary
Placenta
Adipose & soft tissue
Adipose tissue
Soft tissue
N/A
Skin
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Placenta

PROTEIN EXPRESSION OVERVIEW

Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW

HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

PNPLA6 (HGNC Symbol)

Synonyms

iPLA2delta, NTE, SPG39, 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

Cytoband

p13.2

Chromosome location (bp)

7534004 - 7561764

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000032444 (version 83.38)

Entrez gene

10908

UniProt

Q8IY17 (UniProt - Evidence at protein level)

neXtProt

NX_Q8IY17

Antibodypedia

PNPLA6 antibodies

PROTEIN BROWSER

«
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

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PNPLA6-001
ENSP00000221249
ENST00000221249
Q8IY17 [Direct mapping]
Neuropathy target esterase
Show all
Enzymes
   ENZYME proteins
   Hydrolases
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
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004622 [lysophospholipase activity]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0006629 [lipid metabolic process]
GO:0008152 [metabolic process]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016042 [lipid catabolic process]
GO:0032502 [developmental process]
GO:0046470 [phosphatidylcholine metabolic process]
Show all
1327 aa
146.2 kDa
No 1
PNPLA6-002
ENSP00000407509
ENST00000414982
Q8IY17 [Direct mapping]
Neuropathy target esterase
Show all
Enzymes
   ENZYME proteins
   Hydrolases
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
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001525 [angiogenesis]
GO:0004622 [lysophospholipase activity]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0006629 [lipid metabolic process]
GO:0008152 [metabolic process]
GO:0009887 [organ morphogenesis]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016042 [lipid catabolic process]
GO:0032502 [developmental process]
GO:0046470 [phosphatidylcholine metabolic process]
Show all
1375 aa
151 kDa
No 1
PNPLA6-003
ENSP00000443323
ENST00000545201
Q8IY17 [Direct mapping]
Neuropathy target esterase
Show all
Enzymes
   ENZYME proteins
   Hydrolases
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
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004622 [lysophospholipase activity]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0006629 [lipid metabolic process]
GO:0008152 [metabolic process]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016042 [lipid catabolic process]
GO:0032502 [developmental process]
GO:0046470 [phosphatidylcholine metabolic process]
Show all
1300 aa
143.4 kDa
No 1
PNPLA6-004
ENSP00000394348
ENST00000450331
Q8IY17 [Direct mapping]
Neuropathy target esterase
Show all
Enzymes
   ENZYME proteins
   Hydrolases
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
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004622 [lysophospholipase activity]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0006629 [lipid metabolic process]
GO:0008152 [metabolic process]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016042 [lipid catabolic process]
GO:0032502 [developmental process]
GO:0046470 [phosphatidylcholine metabolic process]
Show all
1327 aa
146.2 kDa
No 1
PNPLA6-005
ENSP00000470608
ENST00000601668
M0QZK5 [Direct mapping]
Neuropathy target esterase
Show all
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
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004622 [lysophospholipase activity]
GO:0005783 [endoplasmic reticulum]
GO:0016021 [integral component of membrane]
GO:0032502 [developmental process]
Show all
134 aa
14.9 kDa
No 1
PNPLA6-008
ENSP00000469794
ENST00000593924
M0QYF5 [Direct mapping]
Neuropathy target esterase
Show all
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
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004622 [lysophospholipase activity]
GO:0005783 [endoplasmic reticulum]
GO:0016021 [integral component of membrane]
GO:0032502 [developmental process]
Show all
118 aa
13.2 kDa
No 1
PNPLA6-009
ENSP00000472572
ENST00000600942
M0R2H4 [Direct mapping]
Neuropathy target esterase
Show all
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
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004622 [lysophospholipase activity]
GO:0005783 [endoplasmic reticulum]
GO:0016021 [integral component of membrane]
GO:0032502 [developmental process]
Show all
154 aa
17.3 kDa
No 1
PNPLA6-010
ENSP00000470461
ENST00000596515
M0QZD1 [Direct mapping]
Neuropathy target esterase
Show all
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
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004622 [lysophospholipase activity]
GO:0005783 [endoplasmic reticulum]
GO:0016021 [integral component of membrane]
GO:0032502 [developmental process]
Show all
38 aa
3.9 kDa
No 1
PNPLA6-011
ENSP00000472631
ENST00000601001
M0R2K2 [Direct mapping]
Neuropathy target esterase
Show all
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
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004622 [lysophospholipase activity]
GO:0005783 [endoplasmic reticulum]
GO:0016021 [integral component of membrane]
GO:0032502 [developmental process]
Show all
181 aa
20.5 kDa
No 1
PNPLA6-012
ENSP00000473211
ENST00000600737
Q8IY17 [Direct mapping]
Neuropathy target esterase
Show all
Enzymes
   ENZYME proteins
   Hydrolases
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
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004622 [lysophospholipase activity]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0006629 [lipid metabolic process]
GO:0008152 [metabolic process]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016042 [lipid catabolic process]
GO:0032502 [developmental process]
GO:0046470 [phosphatidylcholine metabolic process]
Show all
1365 aa
149.9 kDa
No 1
PNPLA6-015
ENSP00000470060
ENST00000594551
M0QYT1 [Direct mapping]
Neuropathy target esterase
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004622 [lysophospholipase activity]
GO:0005783 [endoplasmic reticulum]
GO:0032502 [developmental process]
Show all
192 aa
21.4 kDa
No 0
PNPLA6-016
ENSP00000472456
ENST00000595264
M0R2C2 [Direct mapping]
Neuropathy target esterase
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004622 [lysophospholipase activity]
GO:0005783 [endoplasmic reticulum]
GO:0032502 [developmental process]
Show all
267 aa
29.1 kDa
No 0
PNPLA6-024
ENSP00000469171
ENST00000599947
M0QXH7 [Direct mapping]
Neuropathy target esterase
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004622 [lysophospholipase activity]
GO:0005783 [endoplasmic reticulum]
GO:0032502 [developmental process]
Show all
155 aa
17 kDa
No 0

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