Pnpla6 patatin-like phospholipase domain containing 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pnpla6provided by MGI
Official Full Name: patatin-like phospholipase domain containing 6provided by MGI
Primary source: MGI:MGI:1354723
See related: Ensembl:ENSMUSG00000004565 AllianceGenome:MGI:1354723
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Nte; MSws
Summary: Enables lysophospholipase activity. Acts upstream of or within angiogenesis and animal organ morphogenesis. Located in membrane. Is expressed in several structures, including brain; cranial nerve; epithelium; extraembryonic component; and genitourinary system. Human ortholog(s) of this gene implicated in Boucher-Neuhauser syndrome; Laurence-Moon syndrome; Oliver-McFarlane syndrome; and hereditary spastic paraplegia 39. Orthologous to human PNPLA6 (patatin like phospholipase domain containing 6). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in ovary adult (RPKM 16.7), colon adult (RPKM 15.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 A1.1; 8 1.92 cM

Exon count:: 36

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (3565341..3594267)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (3515235..3544267)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Title: Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
the expression of CaMKIIalpha and pCREB exhibits a significant increase in cortex and hippocampus after treatment with PFOS, compared with the control.
Title: Expression of Neuropathy Target Esterase in mouse embryonic stem cells during differentiation.
We conclude that spongiform pathology in conditional NTE knockout mice is not mediated by PrPc, and that tubulovesicular inclusions can be seen in spongiform encephalopathy of other etiologies and are not pathognomonic of prion disease
Title: Spongiform pathology in mouse CNS lacking 'neuropathy target esterase' and cellular prion protein.
impairment of vasculogenesis in the yolk sacs and embryos of null mutant conceptuses suggested that NTE is required for normal blood vessel development
Title: Placental failure and impaired vasculogenesis result in embryonic lethality for neuropathy target esterase-deficient mice.
NTE has a role in neural development and in the neurodegeneration induced by organophosphate compounds in mice
Title: Loss of neuropathy target esterase in mice links organophosphate exposure to hyperactivity.
role in the nervous system and indicate that a loss-of-function mechanism may contribute to neurodegenerative diseases characterized by vacuolation and neuronal loss
Title: Brain-specific deletion of neuropathy target esterase/swisscheese results in neurodegeneration.
Increase of neuropathy target esterase (NTE) expression contributes to increased production and accumulation of glycerophosphocholine in mammalian renal cells in tissue culture and in vivo.
Title: Neuropathy target esterase catalyzes osmoprotective renal synthesis of glycerophosphocholine in response to high NaCl.
mouse brain neuropathy target esterase is a lysophospholipase
Title: Evidence that mouse brain neuropathy target esterase is a lysophospholipase.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI661849 (e-PCR)
- UniSTS:165570

PMC88885P2 (e-PCR)
- UniSTS:273609

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables carboxylic ester hydrolase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables lysophospholipase activity	IBA Inferred from Biological aspect of Ancestor more info
enables lysophospholipase activity	IDA Inferred from Direct Assay more info	PubMed
enables lysophospholipase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within animal organ morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid catabolic process	IEA Inferred from Electronic Annotation more info
involved_in phosphatidylcholine metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: patatin-like phospholipase domain-containing protein 6

Names: Swiss-cheese; neuropathy target esterase

NP_001116290.2

EC 3.1.1.5

NP_001346050.1

EC 3.1.1.5

NP_001346051.1

EC 3.1.1.5

NP_001346052.1

EC 3.1.1.5

NP_001346053.1

EC 3.1.1.5

NP_001365880.1

EC 3.1.1.5

NP_001365881.1

EC 3.1.1.5

NP_001365882.1

EC 3.1.1.5

NP_001365883.1

EC 3.1.1.5

NP_001365884.1

EC 3.1.1.5

NP_056616.2

EC 3.1.1.5

XP_006508888.3

EC 3.1.1.5

XP_006508890.1

EC 3.1.1.5

XP_006508891.1

EC 3.1.1.5

XP_006508892.1

EC 3.1.1.5

XP_006508894.1

EC 3.1.1.5

XP_006508895.1

EC 3.1.1.5

XP_036010046.1

EC 3.1.1.5

XP_036010047.1

EC 3.1.1.5

XP_036010048.1

EC 3.1.1.5

XP_036010049.1

EC 3.1.1.5

XP_036010050.1

EC 3.1.1.5

XP_036010051.1

EC 3.1.1.5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001122818.3 → NP_001116290.2 patatin-like phospholipase domain-containing protein 6 isoform 1

See identical proteins and their annotated locations for NP_001116290.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AC170806

Consensus CDS

CCDS85487.1

UniProtKB/TrEMBL

A0A140LI54

Related

ENSMUSP00000146680.2, ENSMUST00000208002.2

Conserved Domains (2) summary

cd07225
Location:934 → 1239

Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7

cd00038
Location:606 → 714

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
NM_001359121.2 → NP_001346050.1 patatin-like phospholipase domain-containing protein 6 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3), as well as variant 9, encodes isoform 3.

Source sequence(s)

AC170806

Conserved Domains (2) summary

cd07225
Location:912 → 1217

Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7

cd00038
Location:584 → 692

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
NM_001359122.2 → NP_001346051.1 patatin-like phospholipase domain-containing protein 6 isoform 4

Status: VALIDATED

Source sequence(s)

AC170806

Conserved Domains (2) summary

cd07225
Location:938 → 1243

Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7

cd00038
Location:610 → 718

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
NM_001359123.2 → NP_001346052.1 patatin-like phospholipase domain-containing protein 6 isoform 5

Status: VALIDATED

Source sequence(s)

AC170806

Conserved Domains (2) summary

cd07225
Location:948 → 1253

Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7

cd00038
Location:620 → 728

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
NM_001359124.2 → NP_001346053.1 patatin-like phospholipase domain-containing protein 6 isoform 6

Status: VALIDATED

Source sequence(s)

AC170806

Conserved Domains (2) summary

cd07225
Location:948 → 1253

Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7

cd00038
Location:620 → 728

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
NM_001378951.1 → NP_001365880.1 patatin-like phospholipase domain-containing protein 6 isoform 13

Status: VALIDATED

Description

Transcript Variant: This variant (8) encodes a protein (isoform 13) that is the same length as isoform 1 but has a distinct peptide sequence.

Source sequence(s)

AC170806

Conserved Domains (2) summary

cd07225
Location:934 → 1239

Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7

cd00038
Location:606 → 714

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
NM_001378952.1 → NP_001365881.1 patatin-like phospholipase domain-containing protein 6 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (9), as well as variant 3, encodes isoform 3.

Source sequence(s)

AC170806

Conserved Domains (2) summary

cd07225
Location:912 → 1217

Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7

cd00038
Location:584 → 692

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
NM_001378953.1 → NP_001365882.1 patatin-like phospholipase domain-containing protein 6 isoform 7

Status: VALIDATED

Source sequence(s)

AC170806

UniProtKB/Swiss-Prot

Q3TRM4, Q7TQD6, Q9R114

Conserved Domains (2) summary

cd07225
Location:944 → 1249

Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7

cd00038
Location:616 → 724

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
NM_001378954.1 → NP_001365883.1 patatin-like phospholipase domain-containing protein 6 isoform 8

Status: VALIDATED

Source sequence(s)

AC170806

Conserved Domains (2) summary

cd07225
Location:911 → 1216

Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7

cd00038
Location:583 → 691

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
NM_001378955.1 → NP_001365884.1 patatin-like phospholipase domain-containing protein 6 isoform 9

Status: VALIDATED

Source sequence(s)

AC170806

UniProtKB/TrEMBL

A0A140LHU9

Related

ENSMUSP00000146555.2, ENSMUST00000207941.2

Conserved Domains (2) summary

cd07225
Location:944 → 1210

Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7

cd00038
Location:616 → 724

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
NM_015801.3 → NP_056616.2 patatin-like phospholipase domain-containing protein 6 isoform 2

Status: VALIDATED

Source sequence(s)

AC170806

Consensus CDS

CCDS40206.1

UniProtKB/Swiss-Prot

Q3TRM4

Related

ENSMUSP00000004681.8, ENSMUST00000004681.14

Conserved Domains (4) summary

cd07225
Location:916 → 1221

Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7

COG0664
Location:141 → 283

Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]

COG1752
Location:921 → 1205

RssA; Predicted acylesterase/phospholipase RssA, containd patatin domain [General function prediction only]

cd00038
Location:588 → 696

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...

RNA

NR_152827.2 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC170806

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000074.7 Reference GRCm39 C57BL/6J

Range

3565341..3594267

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006508831.5 → XP_006508894.1 patatin-like phospholipase domain-containing protein 6 isoform X3

See identical proteins and their annotated locations for XP_006508894.1

UniProtKB/TrEMBL

A0A140LI54

Conserved Domains (2) summary

cd07225
Location:934 → 1239

Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7

cd00038
Location:606 → 714

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
XM_006508827.5 → XP_006508890.1 patatin-like phospholipase domain-containing protein 6 isoform X2

See identical proteins and their annotated locations for XP_006508890.1

Conserved Domains (2) summary

cd07225
Location:938 → 1243

Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7

cd00038
Location:610 → 718

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
XM_036154158.1 → XP_036010051.1 patatin-like phospholipase domain-containing protein 6 isoform X6

Conserved Domains (2) summary

cd07225
Location:903 → 1208

Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7

cd00038
Location:575 → 683

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
XM_036154155.1 → XP_036010048.1 patatin-like phospholipase domain-containing protein 6 isoform X3

UniProtKB/TrEMBL

A0A140LI54

Conserved Domains (2) summary

cd07225
Location:934 → 1239

Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7

cd00038
Location:606 → 714

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
XM_036154153.1 → XP_036010046.1 patatin-like phospholipase domain-containing protein 6 isoform X2

Conserved Domains (2) summary

cd07225
Location:938 → 1243

Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7

cd00038
Location:610 → 718

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
XM_036154157.1 → XP_036010050.1 patatin-like phospholipase domain-containing protein 6 isoform X5

Conserved Domains (2) summary

cd07225
Location:927 → 1232

Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7

cd00038
Location:599 → 707

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
XM_006508825.5 → XP_006508888.3 patatin-like phospholipase domain-containing protein 6 isoform X1

Conserved Domains (2) summary

cd07225
Location:940 → 1245

Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7

cd00038
Location:612 → 720

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
XM_006508828.1 → XP_006508891.1 patatin-like phospholipase domain-containing protein 6 isoform X2

See identical proteins and their annotated locations for XP_006508891.1

Conserved Domains (2) summary

cd07225
Location:938 → 1243

Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7

cd00038
Location:610 → 718

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
XM_006508829.2 → XP_006508892.1 patatin-like phospholipase domain-containing protein 6 isoform X2

See identical proteins and their annotated locations for XP_006508892.1

Conserved Domains (2) summary

cd07225
Location:938 → 1243

Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7

cd00038
Location:610 → 718

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
XM_036154154.1 → XP_036010047.1 patatin-like phospholipase domain-containing protein 6 isoform X2

Conserved Domains (2) summary

cd07225
Location:938 → 1243

Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7

cd00038
Location:610 → 718

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
XM_036154156.1 → XP_036010049.1 patatin-like phospholipase domain-containing protein 6 isoform X4

Conserved Domains (2) summary

cd07225
Location:923 → 1228

Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7

cd00038
Location:595 → 703

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
XM_006508832.5 → XP_006508895.1 patatin-like phospholipase domain-containing protein 6 isoform X7

Conserved Domains (2) summary

cd07225
Location:889 → 1194

Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7

cd00038
Location:561 → 669

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...