Ppt1 Palmitoyl-protein thioesterase 1 [Drosophila melanogaster (fruit fly)] - Gene

Summary

Official Symbol: Ppt1provided by FlyBase
Official Full Name: Palmitoyl-protein thioesterase 1provided by FlyBase
Primary source: FLYBASE:FBgn0030057
Locus tag: Dmel_CG12108
See related: AllianceGenome:FB:FBgn0030057
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Drosophila melanogaster
Lineage: Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
Also known as: CG12108; Dmel\CG12108; DmPpt1; ppt1; PPT1
Summary: Enables palmitoyl-(protein) hydrolase activity. Involved in several processes, including determination of adult lifespan; neuron fate specification; and positive regulation of synaptic vesicle endocytosis. Located in lysosome. Is expressed in several structures, including adult heart; anterior-posterior subdivision of organism; gonad; larval brain; and larval central nervous system. Used to study neuronal ceroid lipofuscinosis and neuronal ceroid lipofuscinosis 1. 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, Dec 2024]
Orthologs: all
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Genomic context

Location:: 8A2-8A2; 1-24 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
Release 6.54	current	Release 6 plus ISO1 MT (GCF_000001215.4)	X	NC_004354.4 (8688627..8690227, complement)
Release 5.57	previous assembly	Release 5 (GCF_000001215.2)	X	NC_004354.3 (8582660..8584298, complement)

Chromosome X - NC_004354.4 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ppt1 has a role in synaptic vesicle exo- and endocytosis at motor nerve terminals of the Drosophila neuromuscular junction.
Title: Mutations in palmitoyl-protein thioesterase 1 alter exocytosis and endocytosis at synapses in Drosophila larvae.
Palmitoyl Protein Thioesterase 1 gene regulates neural specification and axon connectivity during Drosophila embryonic development
Title: The Batten disease Palmitoyl Protein Thioesterase 1 gene regulates neural specification and axon connectivity during Drosophila embryonic development.
An unbiased dominant loss-of-function genetic modifier screen is performed in Drosophila using a previously characterized Ppt1 gain-of-function system.
Title: Identifying cellular pathways modulated by Drosophila palmitoyl-protein thioesterase 1 function.
major lysosomal thioesterase; Ppt2 expression cannot rescue neural inclusion phenotypes associated with loss of Ppt1
Title: The Drosophila protein palmitoylome: characterizing palmitoyl-thioesterases and DHHC palmitoyl-transferases.
Modifier genes identified in this screen connect Ppt1 function to synaptic vesicle cycling, endo-lysosomal trafficking, synaptic development, and activity-dependent remodeling of the synapse.
Title: Genetic modifiers of Drosophila palmitoyl-protein thioesterase 1-induced degeneration.
Increased levels of DmPpt1 lead to neurodegeneration possibly via a detrimentl effect on some aspect of PPT1's normal function. This suggests that the precise levels of PPT1 activity are important for neuronal cell survival.
Title: An over-expression system for characterizing Ppt1 function in Drosophila.
Ppt1 has a role in accumulation of storage material and in life span but not in preventing neurodegeneration
Title: Palmitoyl-protein thioesterase 1 deficiency in Drosophila melanogaster causes accumulation of abnormal storage material and reduced life span.

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Pathways from PubChem

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

NCBI Orthologs

Orthologs from OrthoDB

Gene Ontology Provided by FlyBase

Function	Evidence Code	Pubs
enables long-chain fatty acyl-CoA hydrolase activity	IBA Inferred from Biological aspect of Ancestor 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	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables serine hydrolase activity	HDA more info	PubMed

Process	Evidence Code	Pubs
involved_in determination of adult lifespan	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in endocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron fate specification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of synaptic vesicle endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of axon guidance	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in extracellular region	IBA Inferred from Biological aspect of Ancestor 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	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: Palmitoyl-protein thioesterase 1

Names: CG12108-PA; CG12108-PB; Ppt1-PA; Ppt1-PB; palmitoyl protein thioesterase 1; palmitoyl-protein thioesterase 1

NP_001285024.1

EC 3.1.2.22

NP_727284.1

EC 3.1.2.22

NCBI Reference Sequences (RefSeq)

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Genome Annotation

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

Reference assembly

Genomic

NC_004354.4 Reference assembly

Range

8688627..8690227 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001298095.2 → NP_001285024.1 Palmitoyl-protein thioesterase 1, isoform B [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001285024.1

Status: REVIEWED

UniProtKB/Swiss-Prot

Q6NL60, Q8MT82, Q9W3C7

UniProtKB/TrEMBL

C0PV70, S5WMX5

Conserved Domains (1) summary

cl21494
Location:38 → 311

Abhydrolase; alpha/beta hydrolases
NM_167166.4 → NP_727284.1 Palmitoyl-protein thioesterase 1, isoform A [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_727284.1

Status: REVIEWED

UniProtKB/Swiss-Prot

Q6NL60, Q8MT82, Q9W3C7

UniProtKB/TrEMBL

C0PV70, S5WMX5

Related

FBpp0071170

Conserved Domains (1) summary

cl21494
Location:38 → 311

Abhydrolase; alpha/beta hydrolases