Ppt1 palmitoyl-protein thioesterase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ppt1provided by MGI
Official Full Name: palmitoyl-protein thioesterase 1provided by MGI
Primary source: MGI:MGI:1298204
See related: Ensembl:ENSMUSG00000028657 AllianceGenome:MGI:1298204
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: PPT; CLN1; INCL; D4Ertd184e; 9530043G02Rik
Summary: Enables palmitoyl-(protein) hydrolase activity. Acts upstream of or within several processes, including grooming behavior; protein catabolic process; and regulation of phospholipase A2 activity. Located in several cellular components, including dendrite; lysosome; and neuronal cell body. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Used to study neuronal ceroid lipofuscinosis 1 and neuronal ceroid lipofuscinosis 3. Human ortholog(s) of this gene implicated in neuronal ceroid lipofuscinosis 1. Orthologous to human PPT1 (palmitoyl-protein thioesterase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis adult (RPKM 41.9), cerebellum adult (RPKM 27.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D2.2; 4 57.27 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (122729879..122752968)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (122836077..122859175)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Seizures in PPT1 Knock-In Mice Are Associated with Inflammatory Activation of Microglia.
Title: Seizures in PPT1 Knock-In Mice Are Associated with Inflammatory Activation of Microglia.
Ppt1-deficiency dysregulates lysosomal Ca(++) homeostasis contributing to pathogenesis in a mouse model of CLN1 disease.
Title: Ppt1-deficiency dysregulates lysosomal Ca(++) homeostasis contributing to pathogenesis in a mouse model of CLN1 disease.
In a mouse model of INCL reduced S-palmitoylation of cytosolic thioesterase APT1 contributes to microglia proliferation and neuroinflammation.
Title: In a mouse model of INCL reduced S-palmitoylation of cytosolic thioesterase APT1 contributes to microglia proliferation and neuroinflammation.
Ablation of microRNA-155 and neuroinflammation in a mouse model of CLN1-disease.
Title: Ablation of microRNA-155 and neuroinflammation in a mouse model of CLN1-disease.
Cln1-mutations suppress Rab7-RILP interaction and impair autophagy contributing to neuropathology in a mouse model of infantile neuronal ceroid lipofuscinosis.
Title: Cln1-mutations suppress Rab7-RILP interaction and impair autophagy contributing to neuropathology in a mouse model of infantile neuronal ceroid lipofuscinosis.
Mice deficient in the lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1) display a complex retinal phenotype.
Title: Mice deficient in the lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1) display a complex retinal phenotype.
PPT1 affects sperm quality and male fertility through regulating lysosomal function and cholesterol metabolism in Sertoli cells.
Title: Functional importance of palmitoyl protein thioesterase 1 (PPT1) expression by Sertoli cells in mediating cholesterol metabolism and maintenance of sperm quality.
PPT1 acts as a molecular rheostat that allows Conventional type 1 dendritic cells to crossprime efficiently without compromising viral resistance.
Title: Thioesterase PPT1 balances viral resistance and efficient T cell crosspriming in dendritic cells.
The authors demonstrate that the developmental N-methyl-D-aspartate receptor (NMDAR) subunit switch from GluN2B to GluN2A is stagnated in Ppt1(-/-) mice. Correspondingly, Ppt1(-/-) neurons exhibit immature evoked NMDAR currents and dendritic spine morphology in vivo.
Title: Developmental NMDA receptor dysregulation in the infantile neuronal ceroid lipofuscinosis mouse model.
Thes findings of this stuidy suggest that both Ppt1(-/-) microglia and astrocytes are dysfunctional and may contribute to the neurodegeneration observed in infantile neuronal ceroid lipofuscinosis disease
Title: Compromised astrocyte function and survival negatively impact neurons in infantile neuronal ceroid lipofuscinosis.

Submit: New GeneRIF Correction See all GeneRIFs (34)

Variation

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Alleles

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

Targeted (5) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH126388 (e-PCR)
- UniSTS:163096

Ppt1 (e-PCR), detects polymorphism
- UniSTS:507171

AA960502 (e-PCR)
- UniSTS:159287

RH126249 (e-PCR)
- UniSTS:162957

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables long-chain fatty acyl-CoA hydrolase activity	ISO Inferred from Sequence Orthology more info
enables lysophosphatidic acid binding	ISO Inferred from Sequence Orthology more info
enables palmitoyl hydrolase activity	IEA Inferred from Electronic Annotation more info
enables palmitoyl-(protein) hydrolase activity	IBA Inferred from Biological aspect of Ancestor more info
enables palmitoyl-(protein) hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables palmitoyl-(protein) hydrolase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables palmitoyl-(protein) hydrolase activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sulfatide binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within adult locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within associative learning	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in brain development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within grooming behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid catabolic process	ISO Inferred from Sequence Orthology more info
involved_in lysosomal lumen acidification	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lysosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within macromolecule catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within macromolecule depalmitoylation	IDA Inferred from Direct Assay more info	PubMed
involved_in membrane raft organization	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell growth	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of neuron apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in nervous system development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neurotransmitter secretion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pinocytosis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of pinocytosis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of receptor-mediated endocytosis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein depalmitoylation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein depalmitoylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein depalmitoylation	ISO Inferred from Sequence Orthology more info
involved_in protein transport	ISO Inferred from Sequence Orthology more info
involved_in receptor-mediated endocytosis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within receptor-mediated endocytosis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of phospholipase A2 activity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within visual perception	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in axon	IDA Inferred from Direct Assay more info	PubMed
located_in axon	ISO Inferred from Sequence Orthology more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	ISO Inferred from Sequence Orthology more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
is_active_in lysosome	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	IMP Inferred from Mutant Phenotype more info	PubMed
located_in lysosome	ISO Inferred from Sequence Orthology more info
located_in membrane raft	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
is_active_in presynaptic cytosol	IDA Inferred from Direct Assay more info	PubMed
is_active_in presynaptic cytosol	IEP Inferred from Expression Pattern more info	PubMed
located_in synaptic vesicle	ISO Inferred from Sequence Orthology more info
is_active_in synaptic vesicle membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: palmitoyl-protein thioesterase 1

Names: PPT-1; palmitoyl-protein hydrolase 1

NP_032943.2

EC 3.1.2.22

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.