Gene info: ID 5538

Gene: PPT1

GENE ID: 5538

Synonyms: CLN1|INCL|PPT

Description: palmitoyl-protein thioesterase 1

Gene type: protein-coding

Location: 1p34.2

dbXrefs: Ensembl:ENSG00000131238 MIM:600722 Vega:OTTHUMG00000004495 UniprotKB:P50897

RefSeq: NG_009192.1

Retrived from: SNP Mapped

SNPs: 1 ANCO-SNPs

Phenotype: AD

# Publications: 0

Sherlock p-value : NA (AD) NA (ND) (Frontal_Cortex)

Pascal p-value : 1.475e-1 (AD) 6.453e-1 (ND)

ANCO-SNPs

SNP ID	Position	Alleles	Trait	Variation Type
rs6688203	chr1:40084258 (GRCh38.p7)	C>A	alcohol dependence	SNV(Single Nucleotide Variation)

DNA Methylation

There is no related methylation information for this gene.

Gene Expression in Different Tissues

Temporal and Spatial Expressions (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes average value of the expressions.

Top Co-expressed Genes in Brain-Frontal Cortex (BA9) (GTEx v7)

Top 10 positively co-expressed genes

Gene Symbol	Pearson Correlation Coefficient
UQCRC2	0.952
GHITM	0.952
VDAC2	0.951
HNRNPH2	0.95
RAB1A	0.949
PEX19	0.948
APLP2	0.946
ARL3	0.945
APEX1	0.945
MRPL15	0.944

Top 10 negatively co-expressed genes

Gene Symbol	Pearson Correlation Coefficient
OR4F5	-0.808
OR4F29	-0.752
MTRNR2L6	-0.303
MTRNR2L9	-0.275
MTRNR2L10	-0.271
C8orf74	-0.266
TRPV5	-0.264
PPBP	-0.26
CTNNA3	-0.254
KLRB1	-0.251

ID	Drug Name	Drug Type	CAS Num	Status	Role
DB02035	1-Hexadecylsulfonyl Fluoride	Small Molecule		Experimental	Target
DB03796	Palmitic Acid	Small Molecule	57-10-3	Approved\|Experimental	Target

ID	Drug Name	Action	PubMed
C049325	1,2-dithiol-3-thione	"1,2-dithiol-3-thione results in decreased expression of PPT1 mRNA"	19162173
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	"2',3,3',4',5-pentachloro-4-hydroxybiphenyl affects the expression of PPT1 mRNA"	19114083
C009505	4,4'-diaminodiphenylmethane	"4,4'-diaminodiphenylmethane results in increased expression of PPT1 mRNA"	18648102
D000082	Acetaminophen	Acetaminophen results in increased expression of PPT1 mRNA	22230336
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of PPT1 mRNA	16483693
D018501	Antirheumatic Agents	Antirheumatic Agents results in decreased expression of PPT1 mRNA	24449571
C547126	AZM551248	AZM551248 results in increased expression of PPT1 mRNA	22323515
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of PPT1 mRNA	26001963
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of PPT1 mRNA	22228805
C038328	BEP protocol	BEP protocol results in increased expression of PPT1 mRNA	18987330
C095105	bexarotene	bexarotene results in decreased expression of PPT1 mRNA	16648578
C006780	bisphenol A	bisphenol A affects the expression of PPT1 mRNA	21786754
C006780	bisphenol A	bisphenol A results in increased expression of PPT1 mRNA	20678512
C006780	bisphenol A	bisphenol A affects the expression of PPT1 mRNA	21786754
C006780	bisphenol A	bisphenol A affects the expression of PPT1 mRNA	25181051
D002104	Cadmium	Cadmium results in increased expression of PPT1 mRNA	23256528
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of PPT1 mRNA	17484886
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of PPT1 mRNA	20938992
D002994	Clofibrate	Clofibrate results in decreased expression of PPT1 mRNA	22300585
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of PPT1 mRNA	19320972
D009243	NAD	PPT1 gene mutant form affects the abundance of NAD	21224254
D016572	Cyclosporine	Cyclosporine results in decreased expression of PPT1 mRNA	20106945\|2556210
D003907	Dexamethasone	Dexamethasone results in increased expression of PPT1 mRNA	21356098
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of PPT1 mRNA	17361019\|2126653
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of PPT1 mRNA	21266533
D004026	Dieldrin	Dieldrin results in increased expression of PPT1 mRNA	28385952
D004147	Dioxins	Dioxins affects the expression of PPT1 mRNA	20463971
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of PPT1 mRNA	17555576
D018120	Finasteride	Finasteride results in increased expression of PPT1 mRNA	24136188
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of PPT1 mRNA	20938992
C039281	furan	furan results in increased methylation of PPT1 gene	22079235
D005897	Glafenine	Glafenine results in decreased expression of PPT1 mRNA	24136188
C010974	glyphosate	glyphosate results in decreased expression of PPT1 mRNA	26302742
C010176	halofuginone	halofuginone results in increased expression of PPT1 mRNA	17180598
C410337	K 7174	K 7174 results in decreased expression of PPT1 mRNA	24086573
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of PPT1 mRNA	20938992
C004925	methylmercuric chloride	methylmercuric chloride affects the expression of PPT1 protein	27012723
D008777	Methyltestosterone	Methyltestosterone results in increased expression of PPT1 mRNA	29191790
D010416	Pentachlorophenol	Pentachlorophenol results in increased expression of PPT1 mRNA	23892564
D011374	Progesterone	Progesterone results in decreased expression of PPT1 mRNA	23012394
D011794	Quercetin	Quercetin results in increased expression of PPT1 mRNA	21356098
C059514	resveratrol	resveratrol inhibits the reaction [PPT1 gene mutant form results in decreased expression of SYP protein]	21224254
C059514	resveratrol	resveratrol inhibits the reaction [PPT1 gene mutant form results in increased expression of GFAP protein]	21224254
C059514	resveratrol	resveratrol inhibits the reaction [PPT1 gene mutant form results in increased expression of PARP1 protein modified form]	21224254
D012524	Sarin	Sarin results in decreased expression of PPT1 mRNA	19522546
C017947	sodium arsenite	sodium arsenite affects the expression of PPT1 mRNA	29319823
D012969	Sodium Fluoride	Sodium Fluoride results in decreased expression of PPT1 protein	28918527
D013467	Sulindac	Sulindac results in decreased expression of PPT1 mRNA	24136188
C025462	sulindac sulfide	sulindac sulfide results in decreased expression of PPT1 mRNA	16184548
D013629	Tamoxifen	Tamoxifen affects the expression of PPT1 mRNA	17555576
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of PPT1 mRNA	24680724
D015647	2,3,4,5-Tetrahydro-7,8-dihydroxy-1-phenyl-1H-3-benzazepine	"2,3,4,5-Tetrahydro-7,8-dihydroxy-1-phenyl-1H-3-benzazepine results in increased expression of PPT1 protein"	25852303
C082097	tocotrienol, delta	"tocotrienol, delta results in increased expression of PPT1 mRNA"	21356098
C012589	trichostatin A	trichostatin A results in increased expression of PPT1 mRNA	15901671
C005445	triphenyl phosphate	triphenyl phosphate results in decreased expression of PPT1 mRNA	26898711
C016805	tris(1,3-dichloro-2-propyl)phosphate	"tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of PPT1 mRNA"	26179874
D014635	Valproic Acid	Valproic Acid results in increased expression of PPT1 mRNA	15901671
D014635	Valproic Acid	Valproic Acid results in decreased expression of PPT1 mRNA	23179753
D014635	Valproic Acid	Valproic Acid results in increased expression of PPT1 mRNA	29154799
D001335	Vehicle Emissions	Vehicle Emissions results in decreased expression of PPT1 mRNA	19165385
D012256	Riboflavin	Riboflavin results in increased expression of PPT1 mRNA	21356098

GO/Pathway

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0005515	protein binding	-	IPI	19941651 25544563
GO:0008474	palmitoyl-(protein) hydrolase activity	-	IBA	21873635
GO:0008474	palmitoyl-(protein) hydrolase activity	-	IDA	10658183 10737604
GO:0008474	palmitoyl-(protein) hydrolase activity	-	IMP	7637805
GO:0008474	palmitoyl-(protein) hydrolase activity	-	ISS	-
GO:0008474	palmitoyl-(protein) hydrolase activity	-	TAS	-
GO:0016290	palmitoyl-CoA hydrolase activity	-	IDA	10658183
GO:0016290	palmitoyl-CoA hydrolase activity	-	ISS	-
GO:0016790	thiolester hydrolase activity	-	IBA	21873635

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0002084	protein depalmitoylation	-	IBA	21873635
GO:0002084	protein depalmitoylation	-	IDA	10658183 10737604
GO:0002084	protein depalmitoylation	-	ISS	-
GO:0006898	receptor-mediated endocytosis	-	IBA	21873635
GO:0006898	receptor-mediated endocytosis	-	IMP	16542649
GO:0006907	pinocytosis	-	IMP	16542649
GO:0007042	lysosomal lumen acidification	-	IMP	11722572
GO:0007269	neurotransmitter secretion	-	IEA	-
GO:0007399	nervous system development	-	IBA	21873635
GO:0007399	nervous system development	-	IMP	7637805
GO:0007420	brain development	-	IMP	7637805
GO:0007601	visual perception	-	IEA	-
GO:0007625	grooming behavior	-	IEA	-
GO:0008306	associative learning	-	IEA	-
GO:0008344	adult locomotory behavior	-	IEA	-
GO:0015031	protein transport	-	IMP	10737604
GO:0016042	lipid catabolic process	-	IDA	8816748
GO:0030149	sphingolipid catabolic process	-	TAS	16542649
GO:0030163	protein catabolic process	-	NAS	10740217
GO:0030308	negative regulation of cell growth	-	IMP	10737604
GO:0031579	membrane raft organization	-	IMP	15929065
GO:0032429	regulation of phospholipase A2 activity	-	IEA	-
GO:0043066	negative regulation of apoptotic process	-	IDA	15929065
GO:0043524	negative regulation of neuron apoptotic process	-	IMP	10737604 11020216
GO:0044257	cellular protein catabolic process	-	IEA	-
GO:0046949	fatty-acyl-CoA biosynthetic process	-	TAS	-
GO:0048260	positive regulation of receptor-mediated endocytosis	-	IMP	16542649
GO:0048549	positive regulation of pinocytosis	-	IMP	16542649
GO:0048666	neuron development	-	TAS	11136716
GO:0050803	regulation of synapse structure or activity	-	NAS	11136716
GO:0050896	response to stimulus	-	IEA	-
GO:0051181	cofactor transport	-	IMP	16542649
GO:0051186	cofactor metabolic process	-	IMP	16542649

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0005576	extracellular region	-	IDA	8895569
GO:0005576	extracellular region	-	ISS	-
GO:0005634	nucleus	-	IDA	10992246
GO:0005764	lysosome	-	IBA	21873635
GO:0005764	lysosome	-	IDA	8895569 11020216 19941651
GO:0005764	lysosome	-	ISS	-
GO:0005794	Golgi apparatus	-	IDA	7637805
GO:0005829	cytosol	-	ISS	-
GO:0008021	synaptic vesicle	-	IDA	12483688
GO:0016020	membrane	-	HDA	19946888
GO:0030424	axon	-	IDA	12483688
GO:0030425	dendrite	-	IEA	-
GO:0043025	neuronal cell body	-	IEA	-
GO:0043202	lysosomal lumen	-	TAS	-
GO:0043231	intracellular membrane-bounded organelle	-	IBA	21873635
GO:0045121	membrane raft	-	IDA	15929065
GO:0070062	extracellular exosome	-	HDA	23533145

KEGG ID	KEGG Term
hsa00062	Fatty acid elongation
hsa01100	Metabolic pathways
hsa04142	Lysosome

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-556833	Metabolism of lipids	TAS
R-HSA-75105	Fatty acyl-CoA biosynthesis	TAS
R-HSA-8978868	Fatty acid metabolism	TAS

Interactions (STRING v10.5, Interaction Score >= 0.400)

Publications (Co-occurrence of gene symbol strings and ANCO-Dependence terms)

PMID	Title (Year)	Author	Journal