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FLASH GENE

Symbol

PPT1

contributors: mct - updated : 28-06-2016

HGNC name	palmitoyl-protein thioesterase 1
HGNC id	9325

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	24.76 kb     9 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

motif

repetitive sequence   ALU

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001142604 6 - 2195 NP_001136076 - 203 - - NM_000310 9 - 2504 NP_000301 34.2 306 - 2007 17261688

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Nervous brain         Respiratory lung       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Lymphoid         Muscular striatum cardiac     Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	lung, brain, heart

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	signal peptide
	3N linked glycosylation sites
	consensus motifs characteristic of thioesterase

conjugated

GlycoP , PhosphoP

HOMOLOGY

Homologene

FAMILY

palmitoyl-protein thioesterase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,organelle,lumen
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,lysosome
	intracellular,cytoplasm,cytosolic,vesicle
	intracellular,nucleus
text	lysosomal in neuronal and non-neuronal tissues
	synaptosomes and synaptic vesicles (at least in mouse)

basic FUNCTION	involved in synaptic reorganization and/or plasticy
	catabolism of lipid-modified proteins hydrolizing thioesters bonds that link fatty acids to cysteine residues in S-fatty acylated proteins
	involved in the degradation of fatty-acetylated proteins in the lysosome
	maybe also associated with the synaptic function in brain and may protect neurons from excitotoxicity (in status epilepticus)
	cleaving thioester linkages in S-acylated proteins and removing palmitate residues facilitating the degradation of these proteins
	essential for proper neuronal cell fates and organization, and to establish the local environment for proper axon guidance and fasciculation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with CASP4
	PPT2 proteins complement each other with respect to growth and apoptosis
	interaction partner for PPT1, the F1-complex of the mitochondrial ATP synthase
	binding of CLN5 to CLN1/PPT1 is suggested to be the most significant one, since over-expression of PPT1 was shown to influence on the intracellular trafficking of mutated CLN5, and they were shown to share a binding partner outside the NCL protein spectrum
	ZDHHC5 and ZDHHC23 catalyze PPT1 S-palmitoylation

cell & other

REGULATION

activated by

CASP4 (endoplasmic reticulum stress-induced CASP4 activation mediates apoptosis and neurodegeneration in PPT1)

ASSOCIATED DISORDERS

corresponding disease(s)

CLN1

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed metabolism lysosome   inhibition of caspase-4 activity protects PPT1 cells from undergoing apoptosis and from abnormal intracellular accumulation of fatty-acylated proteins and peptides leading to PPT1 pathogenesis metabolism lysosome   a source of recombinant PPT1 will also be useful for exploring alternative delivery methods, such as injection into brain ventricles, chemical modifications or chronic high-dose therapy metabolism lysosome   Combination small molecule PPT1 mimetic and CNS-directed gene therapy as a treatment for infantile neuronal ceroid lipofuscinosis

ANIMAL & CELL MODELS

knockout mice with neuronal ceroid lipofuscinosis