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Guidelines

MIRAGE

patatin like domain 6, lysophospholipase

Summary

Gene Symbol

PNPLA6

Aliases

NTE
SPG39
iPLA2delta
neuropathy target esterase
sws

Organism

Homo sapiens (human)

External Links

NCBI Gene

10908

HGNC

16268

KEGG Gene ID

hsa:10908

PubChem

10908

Alliance of Genome Resources

HGNC:16268

Annotation

Keyword

Alternative splicing
Disease variant
Dwarfism
Endoplasmic reticulum
Glycoprotein
Hereditary spastic paraplegia
Hydrolase
Hypogonadotropic hypogonadism
Intellectual disability
Lipid degradation
Phosphoprotein
Proteomics identification
Reference proteome
Repeat
Retinitis pigmentosa
Transmembrane helix

Proteins

Displaying **all 2** entries
UniProt	Protein Name
A0A384DVU0
Q8IY17	Neuropathy target esterase

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 2** entries
GO Term	Evidence Code	PMID
phosphatidylcholine metabolic process	IEA
glycerophospholipid catabolic process	TAS

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

phosphatidylcholine metabolic process

catabolic process [inference]

cellular catabolic process [inference]

cellular lipid catabolic process [inference]

phospholipid catabolic process [inference]

glycerophospholipid catabolic process

glycerolipid catabolic process [inference]

glycerophospholipid catabolic process

organic substance catabolic process [inference]

lipid catabolic process [inference]

cellular lipid catabolic process [inference]

phospholipid catabolic process [inference]

glycerophospholipid catabolic process

glycerolipid catabolic process [inference]

glycerophospholipid catabolic process

organophosphate catabolic process [inference]

phospholipid catabolic process [inference]

glycerophospholipid catabolic process

cellular metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phospholipid catabolic process [inference]

glycerophospholipid catabolic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phospholipid catabolic process [inference]

glycerophospholipid catabolic process

organophosphate catabolic process [inference]

phospholipid catabolic process [inference]

glycerophospholipid catabolic process

cellular catabolic process [inference]

cellular lipid catabolic process [inference]

phospholipid catabolic process [inference]

glycerophospholipid catabolic process

glycerolipid catabolic process [inference]

glycerophospholipid catabolic process

cellular lipid metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phospholipid catabolic process [inference]

glycerophospholipid catabolic process

cellular lipid catabolic process [inference]

phospholipid catabolic process [inference]

glycerophospholipid catabolic process

glycerolipid catabolic process [inference]

glycerophospholipid catabolic process

glycerolipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerolipid catabolic process [inference]

glycerophospholipid catabolic process

primary metabolic process [inference]

lipid metabolic process [inference]

lipid catabolic process [inference]

cellular lipid catabolic process [inference]

phospholipid catabolic process [inference]

glycerophospholipid catabolic process

glycerolipid catabolic process [inference]

glycerophospholipid catabolic process

cellular lipid metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phospholipid catabolic process [inference]

glycerophospholipid catabolic process

cellular lipid catabolic process [inference]

phospholipid catabolic process [inference]

glycerophospholipid catabolic process

glycerolipid catabolic process [inference]

glycerophospholipid catabolic process

glycerolipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerolipid catabolic process [inference]

glycerophospholipid catabolic process

organic substance metabolic process [inference]

lipid metabolic process [inference]

lipid catabolic process [inference]

cellular lipid catabolic process [inference]

phospholipid catabolic process [inference]

glycerophospholipid catabolic process

glycerolipid catabolic process [inference]

glycerophospholipid catabolic process

cellular lipid metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phospholipid catabolic process [inference]

glycerophospholipid catabolic process

cellular lipid catabolic process [inference]

phospholipid catabolic process [inference]

glycerophospholipid catabolic process

glycerolipid catabolic process [inference]

glycerophospholipid catabolic process

glycerolipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerolipid catabolic process [inference]

glycerophospholipid catabolic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phospholipid catabolic process [inference]

glycerophospholipid catabolic process

organophosphate catabolic process [inference]

phospholipid catabolic process [inference]

glycerophospholipid catabolic process

organonitrogen compound metabolic process [inference]

phosphatidylcholine metabolic process

organic substance catabolic process [inference]

lipid catabolic process [inference]

cellular lipid catabolic process [inference]

phospholipid catabolic process [inference]

glycerophospholipid catabolic process

glycerolipid catabolic process [inference]

glycerophospholipid catabolic process

organophosphate catabolic process [inference]

phospholipid catabolic process [inference]

glycerophospholipid catabolic process

cellular process [inference]

cellular metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phospholipid catabolic process [inference]

glycerophospholipid catabolic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phospholipid catabolic process [inference]

glycerophospholipid catabolic process

organophosphate catabolic process [inference]

phospholipid catabolic process [inference]

glycerophospholipid catabolic process

cellular catabolic process [inference]

cellular lipid catabolic process [inference]

phospholipid catabolic process [inference]

glycerophospholipid catabolic process

glycerolipid catabolic process [inference]

glycerophospholipid catabolic process

cellular lipid metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phospholipid catabolic process [inference]

glycerophospholipid catabolic process

cellular lipid catabolic process [inference]

phospholipid catabolic process [inference]

glycerophospholipid catabolic process

glycerolipid catabolic process [inference]

glycerophospholipid catabolic process

glycerolipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerolipid catabolic process [inference]

glycerophospholipid catabolic process

Displaying **all 5** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum	IDA
endoplasmic reticulum	IBA
endoplasmic reticulum membrane	TAS
cytosol	IDA
membrane	HDA	19946888

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cytosol

organelle membrane [inference]

endoplasmic reticulum membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

Displaying **all 3** entries
GO Term	Evidence Code	PMID
lysophospholipase activity	ISS
lysophospholipase activity	EXP	12514188 15044461
lysophospholipase activity	IBA

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity [inference]

hydrolase activity, acting on ester bonds [inference]

lipase activity [inference]

phospholipase activity [inference]

lysophospholipase activity

carboxylic ester hydrolase activity [inference]

lysophospholipase activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Patatin-like phospholipase domain-containing protein

Functional Category

E: Amino acid transport and metabolism
G: Carbohydrate transport and metabolism
T: Signal transduction mechanisms

Displaying **all 3** entries
Gene Ontology
hydrolase activity
lipid metabolic process
phosphatidylcholine metabolic process

Displaying **all 5** entries
InterPro
Acyl transferase/acyl hydrolase/lysophospholipase
Cyclic nucleotide-binding domain superfamily
Cyclic nucleotide-binding domain
Patatin-like phospholipase domain
RmlC-like jelly roll fold

Human Protein Atlas

ENSG00000032444

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K14676

Name

lysophospholipid hydrolase [EC:3.1.1.5]

References

Rhea

H₂O + a 1-acyl-sn-glycero-3-phosphocholine

H⁺ + sn-glycerol 3-phosphocholine + a fatty acid

Enzyme

3.1.1.5

PMID

Disease

Disease Ontology

Displaying **all 4** entries
DO ID	Disease Name	Source
DOID:0110790	hereditary spastic paraplegia 39	Alliance of Genome Resources
DOID:0111265	Boucher-Neuhauser syndrome	Alliance of Genome Resources
DOID:0111271	Oliver-McFarlane syndrome	Alliance of Genome Resources
DOID:1930	Laurence-Moon syndrome	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 96 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000044	Hypogonadotropic hypogonadism
HP:0000046	Small scrotum
HP:0000054	Micropenis
HP:0000083	Renal insufficiency
HP:0000135	Hypogonadism
HP:0000144	Decreased fertility
HP:0000164	Abnormality of the dentition
HP:0000248	Brachycephaly

Displaying **all 9** entries
Disease ID	Disease Name
OMIM:245800	Laurence-Moon syndrome
OMIM:215470	ataxia-hypogonadism-choroidal dystrophy syndrome
ORPHA:1173	cerebellar ataxia-hypogonadism syndrome
ORPHA:1180	ataxia-hypogonadism-choroidal dystrophy syndrome
OMIM:275400	trichomegaly-retina pigmentary degeneration-dwarfism syndrome
ORPHA:3363	trichomegaly-retina pigmentary degeneration-dwarfism syndrome
ORPHA:139480	hereditary spastic paraplegia 39
ORPHA:2377	Laurence-Moon syndrome
OMIM:612020	hereditary spastic paraplegia 39

PubChem Disease

GHR Health Conditions

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP006668
Gene Name: patatin-like phospholipase domain containing 6

Ortholog

Displaying entries **41 - 50** of 79 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Neolamprologus brichardi	102777264		NEOBR10681
Poecilia formosa	103148729		POEFO15029
Chlorocebus sabaeus	103233801		CHLSB15207
Cynoglossus semilaevis	103384113		CYNSE30557
Poecilia reticulata	103466496		POERE15712
Ursus maritimus	103681896		URSMA23893
Nannospalax galili	103743306		NANGA20345
Rhinopithecus roxellana	104679487		RHIRO30367
Macaca nemestrina	105484447		MACNE12397
Cercocebus atys	105589146		CERAT44053

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 8, 2025