PNPLA6

GENERAL INFORMATION

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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
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General nuclear and cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

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

Data reliability

Uncertain based on 1 antibody.
HPA007522
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Placenta



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

10908

UniProt

Q8IY17 (UniProt - Evidence at protein level)

neXtProt

NX_Q8IY17

Antibodypedia

PNPLA6 antibodies


PROTEIN BROWSER

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ENST00000221249
 
ENST00000414982
 
ENST00000450331
 
ENST00000545201
 
ENST00000593924
 
ENST00000594551
 
ENST00000595264
 
ENST00000596515
 
ENST00000599947
 
ENST00000600737
 
ENST00000600942
 
ENST00000601001
 
ENST00000601668
 
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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
Show » 192 21.4 No 0
PNPLA6-016 ENSP00000472456
ENST00000595264
Show » 267 29.1 No 0
PNPLA6-024 ENSP00000469171
ENST00000599947
Show » 155 17 No 0